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>>THANK YOU FOR

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JOINING US TODAY.

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WE WELCOME YOU TO OUR 2022

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VIRTUAL RARE DISEASE DAY AT NIH.

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AS IT IS EACH YEAR THE PLANNING

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COMMITTEE HAS BEEN WORKING HARD

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FOR MANY MONTHS TO BRING YOU

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TODAY'S EXCITING AND PACKED

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AGENDA.

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MY NAME IS ALICE CHEN, I'M A

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PROGRAM OFFICER IN THE OFFICE OF

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RARE DISEASES RESEARCH, LOCATED

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IN THE NATIONAL CENTER FOR

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ADVANCING TRANSLATIONAL SCIENCES

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AT THE NATIONAL INSTITUTES OF

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HEALTH.

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I AM PRESENTING ON BEHALF OF MY

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PLANNING CO-LEADS WHO ARE ALSO

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PART OF THE OFFICE OF RARE

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DISEASES RESEARCH.

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WE'RE KICKING OFF WITH AN

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OVERVIEW HOW YOU CAN STILL

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ENGAGE WITH SPEAKERS,

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EXHIBITORS, POSTER AUTHORS AND

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ATTENDEES THROUGHOUT THE DAY.

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TAKE NOTE OF THE FOUR WAYS YOU

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CAN SUBMIT QUESTIONS, FIRST YOU

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CAN USE THE Q&A FEATURE IN THIS

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YEAR'S NEW EVENT APP, I WILL

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SHARE MORE DETAILS ABOUT THIS

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SHORTLY.

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SECOND, YOU CAN USE THE SEND

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LIVE FEEDBACK BUTTON AT THE

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BOTTOM OF THE SCREEN.

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THIRD, YOU CAN DIRECTLY E-MAIL

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OUR OFFICE AT ORDR@NIH.GOV.

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FINALLY, YOU CAN TWEET US YOUR

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QUESTIONS USING THE EVENT

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HASHTAG #RDD NIH.

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SEND YOUR QUESTIONS EARLY, THERE

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COULD BE A ONE-MINUTE DELAY.

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I WILL SPEND A FEW MINUTES

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SHARING MORE ABOUT OUR NEW EVENT

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APP.

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ALL OF YOU ARE CURRENTLY

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WATCHING THROUGH NIH VIDEOCAST,

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HOWEVER BY USING THE APP YOU

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WILL STILL BE ABLE TO SUBMIT

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QUESTIONS, CONNECT WITH

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SPEAKERS, AND OTHER ATTENDEES,

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ENGAGE WITH EXHIBITORS, POSTER

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AUTHORS, VIEW ART, AND MORE.

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THERE ARE A COUPLE OPTIONS TO

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FIND IT.

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IF YOU WOULD LIKE TO ACCESS THE

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APP VIA WEB BROWSER CLICK ON THE

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YELLOW LINK IN THE VIDEOCAST

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DESCRIPTION BELOW.

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CHROME, FIREFOX AND EDGE ARE THE

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RECOMMENDED BROWSERS.

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IF YOU WOULD LIKE TO USE A

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MOBILE DEVICE, GO TO YOUR MOBILE

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APP STORE AND DOWNLOAD THE BLUE

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WHOVA APP, OR SCAN THE QR CODE

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SEEN HERE.

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NEXT SIGN IN USING THE SAME

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E-MAIL ADDRESS YOU USED IN

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REGISTRATION.

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IF YOU'VE NOT SIGNED IN BEFORE,

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USE THE SIGN-UP HERE FEATURE.

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AFTER YOU CREATE A PASSWORD AND

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SIGN UP YOU'LL BE IN.

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THE EVENT APP IS ONLY OPEN TO

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REGISTERED ATTENDEES.

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ONCE YOU'RE SIGNED IN, YOU'LL BE

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TAKEN TO THE EVENT HOME PAGE.

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I WILL WALK THROUGH SEVERAL

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FEATURES LOCATED IN THE LEFT

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NAVIGATION MENU.

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UNDER THE AGENDA, YOU CAN EXPAND

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IT TO VIEW EACH SESSION FOR THIS

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YEAR'S EVENT.

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FOR EXAMPLE, THIS IS A SCREEN

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SHOT OF OUR TALK NOW.

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YOU CAN ADD IT TO MY PERSONAL

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AGENDA, AND VIEW MORE DETAILS

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ABOUT THE SESSION.

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WHEN YOU VIEW THE SESSION

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DETAILS YOU'LL SEE THIS BUTTON

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TO JOIN THE STREAM.

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CLICKING ON THIS WILL TAKE YOU

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TO THE VIDEOCAST, BUT NOTE A

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SECOND BROWSER TAB WILL OPEN.

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UNFORTUNATELY, IT WILL NOT PLAY

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DIRECTLY EMBEDDED WITHIN THE

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APP.

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ON THE RIGHT YOU WILL SEE THE

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Q&A AND CHAT.

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THIS IS WHAT YOU CAN USE TO ASK

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QUESTIONS AND CHAT WITH OTHERS

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ABOUT THE SESSION.

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MANY OF OUR SPEAKERS WILL BE

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AVAILABLE TODAY TO ANSWER YOUR

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QUESTIONS WITHIN THE APP.

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WHEN YOU SCROLL DOWN ON THE PAGE

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YOU'LL SEE EACH SPEAKER FOR THAT

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SESSION.

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IF YOU CLICK ON THE NAME, MORE

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INFORMATION ABOUT THE SPEAKER

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WILL APPEAR.

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ANOTHER FEATURE TO NOTE ARE

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THESE ICONS ON THE SIDE, YOU CAN

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BOOK MARK SPEAKERS, MESSAGE

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THEM, SET UP A VIDEO CALL.

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GOING BACK TO THE LEFT

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NAVIGATION MENU, THE NEXT ITEM

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DOWN IS THE SPEAKERS.

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THEY ARE LISTED IN ALPHABETICAL

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ORDER, YOU CAN ALSO USE THE

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SEARCH BAR TO FIND SPEAKERS MORE

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QUICKLY.

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FOR EACH SPEAKER LU YOU'LL SEE 

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THE ABILITY TO BOOKMARK, VIEW

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MESSAGE, CONSIDER A VIDEO CALL.

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NEXT IS THE ATTENDEES.

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IF YOU GO HERE, YOU CAN FIND

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OTHERS TUNING IN AND LOOK FOR

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NETWORKING OPPORTUNITIES.

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NAMES ARE IN ALPHABETICAL ORDER

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WITH A CONVENIENT SEARCH BAR TO

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USE.

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THE COMMUNITY BOARD ALLOWS FOR

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ADDITIONAL ENGAGEMENT AROUND A

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TOPIC.

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FOR EXAMPLE, SOME OF YOU HAVE

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ALREADY POSTED ICE BREAKERS, AND

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THERE'S SHARING OF OTHER

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CONFERENCES AS WELL AS RELATED

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ARTICLES.

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YOUR MESSAGES WITH OTHERS CAN BE

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FOUND NEXT ALONG THE NAVIGATION

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MENU. 

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AND WE HAVE ADDED THIS TO MAKE

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THIS MORE FUN.

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CHECK IN FOR A CHANCE TO HAVE

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YOUR NAME ANNOUNCED AT THE END

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OF THE DAY.

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A BIG ITEM IN THE EVENT APP IS

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VIRTUAL EXHIBITS AND POSTERS.

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WHEN YOU SELECT EXHIBITORS FROM

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THE LEFT, YOU WILL SEE A LIST OF

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ALL THE VIRTUAL BOOTHS

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AVAILABLE.

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IF YOU SELECT THE DROPDOWN MENU

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YOU CAN FILTER FROM NIH OR

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NIH-FUNDED PROGRAMS.

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OR UTILIZE THE SEARCH BAR.

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WE ENCOURAGE YOU TO CLICK ON THE

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BLUE BUTTON TO VISIT THE BOOTHS

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AND LEARN MORE.

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ONCE YOU ENTER, YOU'LL SEE A

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CHAT FEATURE ON THE RIGHT FOR

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YOU TO USE, YOU CAN ALSO SHARE

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YOUR CONTACT INFORMATION, 

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CONNECT WITH BOOTH STAFF, HOURS

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ARE POSTED FOR WHEN YOU CAN TALK

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TO SOMEONE LIVE.

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THERE'S CHANCE TO VIEW VIDEOS,

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HANDOUTS AND PHOTOS OR

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INFOGRAPHICS.

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AGAIN, ALL AVAILABLE BOOTH STAFF

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CAN BE FOUND AT THE BOTTOM.

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THE LAST SECTION IS THE

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RESOURCES MENU HERE.

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WE ENCOURAGE YOU TO CLICK AROUND

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AND BECOME FAMILIAR WITH THE

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OPTIONS.

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IN PARTICULAR, NCATS HAS A NEW

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RARE DISEASES WEBSITE, THAT WE

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ENCOURAGE YOU TO EXPLORE.

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THIS IS  A ONE-STOP SHOP FOR

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PROGRAMS AND RESEARCH

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OPPORTUNITIES YOU'LL HEAR ABOUT

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TODAY.

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IF YOU HAVEN'T HAD A CHANCE TO

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CHECK OUT OUR RARE DISEASE DAY

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NIH WEBSITE YOU CAN FIND IT

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HERE.

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ONE ITEM TO NOTE SINCE WE GET

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THIS QUESTION EVERY YEAR, THE

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VIDEOCAST STREAM OF TODAY'S

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EVENT WILL BE SAVED AND ARCHIVED

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FOR YOU TO WATCH AGAIN AT YOUR

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OWN PACE.

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IN FACT, NOTICE WE ACTUALLY HAVE

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ALL PAST EVENTS READILY

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AVAILABLE FOR YOU.

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THIS BULLET WILL TAKE YOU TO THE

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MATERIALS FOR PAST YEARS.

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THIS EVENT APP WILL BE AVAILABLE

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UNTIL THE END OF MAY SO YOU CAN

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COME BACK AT ANY TIME.

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EXHIBITORS MAY EVEN BE AVAILABLE

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OUTSIDE OF TODAY'S EVENT TIME.

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AS I REMIND YOU EACH YEAR FEEL

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FREE TO PROVIDE FEEDBACK.

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YOU CAN SELECT FEEDBACK TO

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PROVIDE COMMENTS ON EACH SESSION

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WITHIN THE AGENDA, AND ABOUT

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OVERALL RARE DISEASE DAY AT NIH

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EVENT THIS YEAR.

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LASTLY, THE WHOVA GUIDES ARE AT

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THE BOTTOM, IF YOU NEED MORE

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SUPPORT AFTER VIEWING THE GUIDES

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YOU CAN E-MAIL

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SUPPORT@WHOVA.COM.

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BEFORE WE JUMP TO WELCOMING

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RATERS  -- REMARKS, I WANT TO

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THANK YOU FOR JOINING US AND

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EMPHASIZE THERE WAS A TEAM

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BEHIND THIS YEAR'S PLANNING

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EFFORTS, MANY PEOPLE REPRESENTED

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NCATS.

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OTHERS IN THE 2022 PLANNING

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COMMITTEE WERE THE CLINICAL

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CENTER, NIH, NHLBI, NIAAA,

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NINDS, U.S. FDA, CHILDREN'S INN

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AT NIH, EVERYLIFE FOUNDATION,

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NORD, UBC.

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TO HELP US PRODUCE THE SECOND

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EVER VIRTUAL EVENT THANKS TO THE

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TECHNICAL TEAM ESPECIALLY THESE

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KEY MEMBERS FROM NIH EVENTS

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MANAGER.

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YOU HELP MAKE EVERYTHING

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POSSIBLE.

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NOW THAT WE'VE HAD A BRIEF

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OVERVIEW OF THE EVENT AND

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VARIOUS ENGAGEMENT FEATURES,

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ENJOY OUR EXCELLENT LINEUP OF

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SPEAKERS TODAY.

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>> THANK YOU, ALICE.

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WE HAVE A SLIDE TO SHOW ALL OF

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THE PEOPLE INVOLVED.

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I WANT TO SAY A HEARTFELT THANKS

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TO ALL OF YOU.

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AND I WANT TO GIVE ALICE A BIG

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SHOUT OUT AS WELL.

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ALICE, THANKS FOR YOUR

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LEADERSHIP AND TIRELESS WORK ON

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BRINGING TOGETHER THIS RICH

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AGENDA.

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I KNOW IT'S A TEAM EFFORT AND

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ALL OF THE ORGANIZERS HAVE MADE

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RARE DISEASE DAY TODAY AT THE

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NIH SHINE.

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SO THANK YOU.

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HELLO, EVERYONE.

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WELCOME TO RARE DISEASE DAY AT

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NIH.

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I'M JONI RUTTER, ACTING DIRECTOR

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OF THE NATIONAL CENTER FOR

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ADVANCING TRANSLATIONAL

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SCIENCES, NCATS.

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IT'S MY PLEASURE TO WELCOME YOU

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TODAY.

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WE'RE ONCE AGAIN UNFORTUNATELY

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00:09:25,520 --> 00:09:27,560
IN A VIRTUAL SPACE FOR THIS

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00:09:27,560 --> 00:09:28,280
EVENT.

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00:09:28,280 --> 00:09:29,440
OF COURSE, WE'D PREFER TO SEE

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00:09:29,440 --> 00:09:31,200
YOU ALL IN PERSON BUT WE'RE

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00:09:31,200 --> 00:09:33,160
DELIGHTED WE CAN MEET SAFELY AND

274
00:09:33,160 --> 00:09:36,560
PROVIDE A FORUM FOR PATIENTS AND

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00:09:36,560 --> 00:09:37,120
ADVOCATES AND RESEARCHERS,

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00:09:37,120 --> 00:09:38,880
POLICYMAKERS AND THE PUBLIC TO

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00:09:38,880 --> 00:09:41,360
LEARN ABOUT RARE DISEASES AND

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00:09:41,360 --> 00:09:42,760
THEIR IMPACT ON PATIENTS' LIVES.

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00:09:42,760 --> 00:09:44,280
WE HAVE FOLKS JOINING US FROM

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00:09:44,280 --> 00:09:45,720
ALL OVER THE COUNTRY AND AROUND

281
00:09:45,720 --> 00:09:46,160
THE WORLD.

282
00:09:46,160 --> 00:09:48,320
THANK YOU SO MUCH FOR TUNING IN.

283
00:09:48,320 --> 00:09:50,280
NOW BEFORE WE BEGIN I WANT TO

284
00:09:50,280 --> 00:09:51,520
RECOGNIZE AND GIVE A THANK YOU

285
00:09:51,520 --> 00:09:53,720
ALSO TO THREE OTHER PEOPLE WHO

286
00:09:53,720 --> 00:09:55,080
MADE REMARKABLE CONTRIBUTIONS TO

287
00:09:55,080 --> 00:09:57,880
RARE DISEASE RESEARCH AT NIH.

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00:09:57,880 --> 00:09:59,200
FIRST, FRANCIS COLLINS.

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00:09:59,200 --> 00:10:01,480
DURING HIS TENURE AS NIH

290
00:10:01,480 --> 00:10:02,560
DIRECTOR HE EMPHASIZED RARE

291
00:10:02,560 --> 00:10:04,480
DISEASES AND VOICE OF PATIENTS

292
00:10:04,480 --> 00:10:06,200
AND FAMILIES, AND NOW IN HIS NIH

293
00:10:06,200 --> 00:10:10,360
LAB HE WILL CONTINUE HIS WORK ON

294
00:10:10,360 --> 00:10:10,880
PROGERIA.

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00:10:10,880 --> 00:10:12,160
SECOND IS CHRIS AUSTIN, WHO

296
00:10:12,160 --> 00:10:14,120
STEPPED DOWN LAST APRIL, AFTER

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00:10:14,120 --> 00:10:16,840
TEN YEARS AS THE FIRST DIRECTOR

298
00:10:16,840 --> 00:10:17,120
OF NCATS.

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00:10:17,120 --> 00:10:18,920
CHRIS WAS INSTRUMENTAL IN MAKING

300
00:10:18,920 --> 00:10:21,360
RARE DISEASE RESEARCH A TOP

301
00:10:21,360 --> 00:10:22,280
PRIORITY FOR NCATS.

302
00:10:22,280 --> 00:10:27,880
AND LAST BUT NOT LEAST, ANNE

303
00:10:27,880 --> 00:10:29,360
PARISER WHO RETIRED AFTER

304
00:10:29,360 --> 00:10:31,720
LEADING THE OFFICE OF RARE

305
00:10:31,720 --> 00:10:32,720
DISEASE RESEARCH.

306
00:10:32,720 --> 00:10:34,360
I'VE ASKED P.J. BROOKS TO BE IN

307
00:10:34,360 --> 00:10:35,600
THE ACTING DIRECTOR ROLE FOR

308
00:10:35,600 --> 00:10:35,760
NOW.

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00:10:35,760 --> 00:10:38,280
YOU KNOW HE WON'T SKIP A BEAT.

310
00:10:38,280 --> 00:10:41,240
SO THANK YOU TO DR. COLLINS, DR.

311
00:10:41,240 --> 00:10:42,560
AUSTIN, AND DR. PARISSER FOR

312
00:10:42,560 --> 00:10:44,760
YOUR CONTRIBUTIONS TO RARE

313
00:10:44,760 --> 00:10:45,760
DISEASES AND MAKING RARE DISEASE

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00:10:45,760 --> 00:10:47,960
DAY AT NIH A MAIN EVENT, AND

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00:10:47,960 --> 00:10:50,840
RARE DISEASE RESEARCH A VITAL

316
00:10:50,840 --> 00:10:51,880
PART OF NCATS.

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00:10:51,880 --> 00:10:55,400
AT NCATS OUR MISSION IS TO TURN

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00:10:55,400 --> 00:10:56,800
BIOLOGIC OBSERVATIONS INTO

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00:10:56,800 --> 00:10:58,120
HEALTH SOLUTIONS.

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00:10:58,120 --> 00:11:00,840
AND RIGHT NOW, ONLY ABOUT 1 OUT

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00:11:00,840 --> 00:11:02,720
OF EVERY 10 PROMISING ADVANCES

322
00:11:02,720 --> 00:11:03,960
BECOMES A NEW THERAPY.

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00:11:03,960 --> 00:11:05,800
IT CAN TAKE 15 TO 30 YEARS TO

324
00:11:05,800 --> 00:11:07,040
BRING IT TO MARKET.

325
00:11:07,040 --> 00:11:10,920
WE NEED TO CHANGE THOSE NUMBERS.

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00:11:10,920 --> 00:11:13,360
OUR NCATS APPROACH ADDRESSES

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00:11:13,360 --> 00:11:14,600
LONGSTANDING CRIMPS IN THERAPY

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00:11:14,600 --> 00:11:15,560
DEVELOPMENT PIPELINE.

329
00:11:15,560 --> 00:11:17,760
OUR VISION IS TO BRING MORE

330
00:11:17,760 --> 00:11:20,320
TREATMENTS TO ALL PEOPLE, MORE

331
00:11:20,320 --> 00:11:20,800
QUICKLY.

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00:11:20,800 --> 00:11:23,240
AND RARE DISEASES ARE A BIG PART

333
00:11:23,240 --> 00:11:25,040
OF THAT VISION.

334
00:11:25,040 --> 00:11:27,160
THERE'S AN URGENCY HERE, YOU'LL

335
00:11:27,160 --> 00:11:28,360
HEAR TODAY ABOUT THE ENORMITY OF

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00:11:28,360 --> 00:11:31,160
THE BURDEN OF RARE DISEASES ON

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00:11:31,160 --> 00:11:33,520
OUR SOCIETY.

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00:11:33,520 --> 00:11:35,160
ON PATIENTS, FAMILIES,

339
00:11:35,160 --> 00:11:36,880
CAREGIVERS, ON OUR HEALTH CARE

340
00:11:36,880 --> 00:11:38,000
SYSTEM.

341
00:11:38,000 --> 00:11:39,640
RARE DISEASES ARE COLLECTIVELY

342
00:11:39,640 --> 00:11:42,080
COMMON AND COSTLY, BUT ARE ALSO

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00:11:42,080 --> 00:11:42,360
ACTIONABLE.

344
00:11:42,360 --> 00:11:45,680
IT STARTS WITH THE DIAGNOSIS.

345
00:11:45,680 --> 00:11:47,080
GETTING AN ACCURATE DIAGNOSIS

346
00:11:47,080 --> 00:11:50,720
EARLY, EASILY, SPA  EXPEDITIOUS

347
00:11:50,720 --> 00:11:52,720
BIIS A CRITICAL STEP BRINGING

348
00:11:52,720 --> 00:11:54,520
THE BEST POSSIBLE CARE.

349
00:11:54,520 --> 00:11:56,440
FOR RARE DISEASES, THIS

350
00:11:56,440 --> 00:11:57,760
DIAGNOSTIC ODYSSEY TAKES AN

351
00:11:57,760 --> 00:12:00,360
AVERAGE OF ABOUT 7 YEARS.

352
00:12:00,360 --> 00:12:02,640
IT CAN INCLUDE MISDIAGNOSES AND

353
00:12:02,640 --> 00:12:04,400
ASSOCIATED INAPPROPRIATE RARE OR

354
00:12:04,400 --> 00:12:06,360
UNNECESSARY TESTS AND PROCEDURES

355
00:12:06,360 --> 00:12:07,760
OR DELAYS AND MISSED

356
00:12:07,760 --> 00:12:13,280
OPPORTUNITIES TO GET EFFECTIVE 

357
00:12:13,280 --> 00:12:13,640
INTERVENTIONS.

358
00:12:13,640 --> 00:12:14,560
NCATS AIMS TO SHORTEN BY MORE

359
00:12:14,560 --> 00:12:15,440
THAN HALF.

360
00:12:15,440 --> 00:12:19,520
SINCE RARE DISEASES ARE NOT

361
00:12:19,520 --> 00:12:20,840
RARE, THEIR TREATMENTS SHOULDN'T

362
00:12:20,840 --> 00:12:21,920
BE RARE EITHER.

363
00:12:21,920 --> 00:12:24,760
ONLY 5% OF DISEASES HAVE A

364
00:12:24,760 --> 00:12:25,440
TREATMENT.

365
00:12:25,440 --> 00:12:27,640
THAT HAS BEEN STAGNANT FOR

366
00:12:27,640 --> 00:12:27,880
DECADES.

367
00:12:27,880 --> 00:12:29,360
LET'S WORK TO GET THAT NUMBER UP

368
00:12:29,360 --> 00:12:32,440
SO IN THE NEXT DECADE WE CAN SAY

369
00:12:32,440 --> 00:12:35,080
25% OF RARE DISEASES HAVE A

370
00:12:35,080 --> 00:12:36,880
TREATMENT IN THE PIPELINE.

371
00:12:36,880 --> 00:12:38,680
WITH MORE THAN 7,000 RARE

372
00:12:38,680 --> 00:12:39,960
DISEASES, AND 30 MILLION PEOPLE

373
00:12:39,960 --> 00:12:43,160
WHO HAVE ONE, THIS IS A DAUNTING

374
00:12:43,160 --> 00:12:43,880
TASK.

375
00:12:43,880 --> 00:12:46,520
WE NEED TECHNOLOGIES THAT BETTER

376
00:12:46,520 --> 00:12:47,680
PREDICT TOXICITY AND EFFICACY,

377
00:12:47,680 --> 00:12:48,920
WE NEED THERAPEUTIC APPROACHES

378
00:12:48,920 --> 00:12:52,000
THAT WORK FOR MULTIPLE DISEASES.

379
00:12:52,000 --> 00:12:53,560
WE NEED INNOVATIVE AND INCLUSIVE

380
00:12:53,560 --> 00:12:55,360
CLINICAL TRIALS.

381
00:12:55,360 --> 00:12:57,080
AND STREAMLINED REGULATORY

382
00:12:57,080 --> 00:12:59,200
PROCESSES THAT CAN ACCOMMODATE A

383
00:12:59,200 --> 00:13:01,560
TRIAL DESIGN AROUND ONE

384
00:13:01,560 --> 00:13:02,720
INDIVIDUAL.

385
00:13:02,720 --> 00:13:04,640
WE NEED DATA-DRIVEN TOOLS TO

386
00:13:04,640 --> 00:13:06,760
FACILITATE RESEARCH, AND SPEED

387
00:13:06,760 --> 00:13:09,200
RARE DISEASE DIAGNOSES.

388
00:13:09,200 --> 00:13:10,480
AND TELEHEALTH AND TELEMEDICINE

389
00:13:10,480 --> 00:13:11,160
APPROACHES TO TREAT PEOPLE WHERE

390
00:13:11,160 --> 00:13:12,560
THEY ARE.

391
00:13:12,560 --> 00:13:13,560
WE CAN DO THIS.

392
00:13:13,560 --> 00:13:15,840
THERE ARE NEW INITIATIVES JUST

393
00:13:15,840 --> 00:13:18,160
GETTING STARTED THAT WILL

394
00:13:18,160 --> 00:13:19,760
DEMOCRATIZE AND DISSEMINATE NEW

395
00:13:19,760 --> 00:13:21,720
TREATMENT APPROACHES, WHERE

396
00:13:21,720 --> 00:13:23,160
THERE'S CURRENTLY LITTLE TO NO

397
00:13:23,160 --> 00:13:24,400
COMMERCIAL INTEREST.

398
00:13:24,400 --> 00:13:27,320
PROGRAMS LIKE THE PLATFORM

399
00:13:27,320 --> 00:13:30,960
VECTOR GENE THERAPY APPROACH AND

400
00:13:30,960 --> 00:13:31,680
BESPOKE GENE THERAPY CONSORTIUM,

401
00:13:31,680 --> 00:13:33,160
SOMATIC CELL GENE EDITING

402
00:13:33,160 --> 00:13:34,920
INITIATIVE ARE ALL PROGRAMS THAT

403
00:13:34,920 --> 00:13:38,000
ARE POISED TO TRANSFORM THE

404
00:13:38,000 --> 00:13:38,800
PIPELINE FOR GENE-TARGETED

405
00:13:38,800 --> 00:13:39,080
THERAPIES.

406
00:13:39,080 --> 00:13:42,160
AND BY BREAKING DOWN THE

407
00:13:42,160 --> 00:13:43,800
BARRIERS OF PRE-CLINICAL AND

408
00:13:43,800 --> 00:13:44,960
CLINICAL MANUFACTURING, AND

409
00:13:44,960 --> 00:13:46,920
REGULATORY HURDLES IN THE

410
00:13:46,920 --> 00:13:48,320
PIPELINE, THESE APPROACHES WILL

411
00:13:48,320 --> 00:13:50,400
BRING HOPE TO THE 80% OF RARE

412
00:13:50,400 --> 00:13:53,040
DISEASES THAT ARE CAUSED BY A

413
00:13:53,040 --> 00:13:54,280
SINGLE GENE MUTATION.

414
00:13:54,280 --> 00:13:57,080
TO CHANGE THE RARE DISEASE

415
00:13:57,080 --> 00:13:58,080
LANDSCAPE FOREVER, WE ALSO MUST

416
00:13:58,080 --> 00:14:00,360
PULL IN THE SAME DIRECTION.

417
00:14:00,360 --> 00:14:02,720
WE NEED TO ENSURE THAT ALL

418
00:14:02,720 --> 00:14:05,160
PEOPLE AND ALL COMMUNITIES

419
00:14:05,160 --> 00:14:05,400
BENEFIT.

420
00:14:05,400 --> 00:14:07,880
WE CAN'T JUST STOP DEVELOPING

421
00:14:07,880 --> 00:14:08,840
DIAGNOSTICS AND THERAPEUTICS.

422
00:14:08,840 --> 00:14:11,320
WE ALSO HAVE TO RAISE AWARENESS

423
00:14:11,320 --> 00:14:13,560
AND ADDRESS INEQUITIES IN RARE

424
00:14:13,560 --> 00:14:14,480
DISEASES WITHIN RURAL

425
00:14:14,480 --> 00:14:15,920
COMMUNITIES AND IN COMMUNITIES

426
00:14:15,920 --> 00:14:17,760
OF COLOR.

427
00:14:17,760 --> 00:14:19,360
THAT MEANS ACCESS TO NEWBORN

428
00:14:19,360 --> 00:14:21,040
SCREENING, TO CARE, ACCESS TO

429
00:14:21,040 --> 00:14:23,800
TREATMENTS, AND ALL THAT GOES

430
00:14:23,800 --> 00:14:24,360
WITH IT.

431
00:14:24,360 --> 00:14:26,760
THESE ARE ITEMS ON OUR NCATS

432
00:14:26,760 --> 00:14:28,080
TO-DO LIST WHERE WE FOCUS ON

433
00:14:28,080 --> 00:14:29,040
RARE DISEASES EVERY DAY.

434
00:14:29,040 --> 00:14:31,000
IF YOU'D LIKE TO LEARN MORE,

435
00:14:31,000 --> 00:14:34,560
CHECK OUT OUR NEW NCATS RARE

436
00:14:34,560 --> 00:14:38,800
DISEASES LANDING PAGE,

437
00:14:38,800 --> 00:14:39,640
NCATS.NIH.GOV/RARE-DISEASES.

438
00:14:39,640 --> 00:14:42,360
AND HERE YOU CAN FIND

439
00:14:42,360 --> 00:14:43,360
INFORMATION ABOUT RESEARCH

440
00:14:43,360 --> 00:14:45,480
ADVANCES, RESOURCES, CLINICAL

441
00:14:45,480 --> 00:14:46,400
TRIALS, FUNDING OPPORTUNITIES,

442
00:14:46,400 --> 00:14:50,040
EVEN STAFF TO CONNECT WITH.

443
00:14:50,040 --> 00:14:53,120
IN SPEAKING TO YOU TODAY AS

444
00:14:53,120 --> 00:14:54,080
ACTING NCATS DIRECTOR, I'M ALSO

445
00:14:54,080 --> 00:14:56,000
PERSONALLY PART OF THE RARE

446
00:14:56,000 --> 00:14:58,040
DISEASES COMMUNITY, I'M IN THE

447
00:14:58,040 --> 00:15:00,960
AUDIENCE WITH YOU MY MOTHER HAD

448
00:15:00,960 --> 00:15:03,720
A RARE DISEASE CALLED PRIMARY

449
00:15:03,720 --> 00:15:04,200
MYELOFIBROSIS.

450
00:15:04,200 --> 00:15:05,360
HER NAME WAS DOROTHY.

451
00:15:05,360 --> 00:15:08,240
AS YOU GUESSED, WE'RE FROM A

452
00:15:08,240 --> 00:15:09,720
SMALL TOWN IN KANSAS.

453
00:15:09,720 --> 00:15:12,200
IT TOOK HER ABOUT 15 YEARS TO BE

454
00:15:12,200 --> 00:15:12,920
DIAGNOSED.

455
00:15:12,920 --> 00:15:16,960
AND ONCE SHE WAS, THERE WEREN'T

456
00:15:16,960 --> 00:15:17,360
ANY TREATMENTS.

457
00:15:17,360 --> 00:15:17,960
EVENTUALLY THERE WERE CLINICAL

458
00:15:17,960 --> 00:15:19,840
TRIAL OPTIONS BUT THAT REQUIRED

459
00:15:19,840 --> 00:15:26,960
HER TO TRAVEL 800 MILES BY CAR,

460
00:15:26,960 --> 00:15:29,120
OR 8.5 HOURS BY PLANE FREQUENTLY

461
00:15:29,120 --> 00:15:29,960
AND ALONE.

462
00:15:29,960 --> 00:15:31,920
SHE WASN'T ABLE TO PAY THAT

463
00:15:31,920 --> 00:15:32,120
PRICE.

464
00:15:32,120 --> 00:15:33,200
ODYSSEY, WAIT FOR TREATMENT

465
00:15:33,200 --> 00:15:34,840
OPTIONS, ONLY TO HAVE THOSE

466
00:15:34,840 --> 00:15:36,840
OPTIONS BE DIFFICULT TO ACCESS,

467
00:15:36,840 --> 00:15:38,560
IT'S A STORY THAT'S EXHAUSTING.

468
00:15:38,560 --> 00:15:40,840
ONE THAT I'VE SHARED WITH MANY

469
00:15:40,840 --> 00:15:42,160
OF YOU HERE TODAY.

470
00:15:42,160 --> 00:15:43,640
SO I AM DEDICATED TO FINDING

471
00:15:43,640 --> 00:15:45,760
WAYS TO IMPROVE ALL OF THESE

472
00:15:45,760 --> 00:15:46,040
FACTORS.

473
00:15:46,040 --> 00:15:48,280
AND I KNOW I'M NOT ALONE IN THAT

474
00:15:48,280 --> 00:15:48,760
SENTIMENT.

475
00:15:48,760 --> 00:15:50,600
THAT'S WHAT GIVES ME HOPE.

476
00:15:50,600 --> 00:15:52,320
SO THANK YOU SO MUCH FOR BEING

477
00:15:52,320 --> 00:15:54,960
PART OF RARE DISEASE DAY AT NIH.

478
00:15:54,960 --> 00:15:57,400
LET'S MAKE A DIFFERENCE

479
00:15:57,400 --> 00:15:57,680
TOGETHER.

480
00:15:57,680 --> 00:15:59,760
I'D LIKE TO INVITE TO THE STAGE

481
00:15:59,760 --> 00:16:03,040
MY COLLEAGUE, DR. JIM GILMAN,

482
00:16:03,040 --> 00:16:07,160
CHIEF EXECUTIVE OFFICER OF NIH

483
00:16:07,160 --> 00:16:08,840
CLINICAL CENTER, INCREDIBLE

484
00:16:08,840 --> 00:16:09,760
PARTNER FOR RARE DISEASE

485
00:16:09,760 --> 00:16:15,200
RESEARCH AT NIH.

486
00:16:15,200 --> 00:16:19,600
 

487
00:16:19,600 --> 00:16:19,960
>> WELCOME.

488
00:16:19,960 --> 00:16:22,440
I WANT TO BEGIN BY THANKING THE

489
00:16:22,440 --> 00:16:24,240
SPONSORS OF TODAY'S MEETING AS

490
00:16:24,240 --> 00:16:26,760
THE CLINICAL CENTER JOINS THE

491
00:16:26,760 --> 00:16:29,920
NATIONAL CENTER FOR ADVANCING

492
00:16:29,920 --> 00:16:30,960
TRANSLATIONAL SCIENCES, NCATS,

493
00:16:30,960 --> 00:16:32,760
OFFICE OF RARE DISEASES RESEARCH

494
00:16:32,760 --> 00:16:34,280
ALONG WITH MANY OTHER PARTNER

495
00:16:34,280 --> 00:16:36,840
ORGANIZATIONS IN PUTTING ON THIS

496
00:16:36,840 --> 00:16:37,040
EVENT.

497
00:16:37,040 --> 00:16:38,360
THESE INCLUDE THE NATIONAL

498
00:16:38,360 --> 00:16:39,160
CANCER INSTITUTE, NATIONAL

499
00:16:39,160 --> 00:16:40,840
HEART, LUNG AND BLOOD INSTITUTE,

500
00:16:40,840 --> 00:16:43,720
NATIONAL INSTITUTE ON ALCOHOL

501
00:16:43,720 --> 00:16:45,000
ABUSE AND ALCOHOLISM, NATIONAL

502
00:16:45,000 --> 00:16:46,880
INSTITUTE OF NEUROLOGICAL

503
00:16:46,880 --> 00:16:49,920
DISORDERS AND STROKE, THE RARE

504
00:16:49,920 --> 00:16:50,920
DISEASES CLINICAL RESEARCH

505
00:16:50,920 --> 00:16:52,160
NETWORKS COALITION OF PATIENT

506
00:16:52,160 --> 00:16:54,760
ADVOCACY GROUPS, U.S. FOOD AND

507
00:16:54,760 --> 00:16:57,920
DRUG ADMINISTRATION, CHILDREN'S

508
00:16:57,920 --> 00:16:59,760
INN AT NIH, EVERYLIFE FOUNDATION

509
00:16:59,760 --> 00:17:01,960
FOR RARE DISEASES, NATIONAL

510
00:17:01,960 --> 00:17:04,240
ORGANIZATION FOR RARE DISORDERS,

511
00:17:04,240 --> 00:17:05,920
AND UNITED BIOSOURCE LLC.

512
00:17:05,920 --> 00:17:08,640
THIS IS OUR SECOND GO-ROUND, AS

513
00:17:08,640 --> 00:17:09,760
A VIRTUAL RARE DISEASE DAY.

514
00:17:09,760 --> 00:17:10,960
FOR YEARS THE CLINICAL CENTER

515
00:17:10,960 --> 00:17:12,360
WAS THE PROUD HOME TO RARE

516
00:17:12,360 --> 00:17:14,920
DISEASE DAY ON THE NIH CAMPUS.

517
00:17:14,920 --> 00:17:19,200
IT WAS A LITTLE BITTERSWEET WHEN

518
00:17:19,200 --> 00:17:20,760
RARE DISEASE DAY OUTGREW MASUR

519
00:17:20,760 --> 00:17:22,400
AUDITORIUM AND WENT TO THE NIH

520
00:17:22,400 --> 00:17:23,360
CONFERENCE CENTER A FEW YEARS

521
00:17:23,360 --> 00:17:23,880
BACK.

522
00:17:23,880 --> 00:17:25,680
NOW WITH THE VIRTUAL EVENT WE'RE

523
00:17:25,680 --> 00:17:27,760
ABLE TO ACCOMMODATE MORE PEOPLE

524
00:17:27,760 --> 00:17:29,680
THAN EVER DESPITE THE

525
00:17:29,680 --> 00:17:31,160
CHALLENGING CIRCUMSTANCES.

526
00:17:31,160 --> 00:17:32,760
I WILL MISS TOURING PARTICIPANTS

527
00:17:32,760 --> 00:17:34,400
AROUND THE HOSPITAL AT LUNCH AS

528
00:17:34,400 --> 00:17:36,040
WE DID IN YEARS PAST.

529
00:17:36,040 --> 00:17:37,480
YET PLEASE BE ASSURED THE

530
00:17:37,480 --> 00:17:39,240
CLINICAL CENTER IS SAFELY

531
00:17:39,240 --> 00:17:41,360
CARRYING ON ITS RESEARCH AND

532
00:17:41,360 --> 00:17:43,160
PATIENT CARE MISSION, EVEN

533
00:17:43,160 --> 00:17:44,760
THROUGH THE PANDEMIC.

534
00:17:44,760 --> 00:17:45,400
OUTSTANDING RESEARCHERS WORKING

535
00:17:45,400 --> 00:17:47,560
AT THE CLINICAL CENTER SUCH AS

536
00:17:47,560 --> 00:17:50,760
DR. TIFT AND DR. BEVANS WILL

537
00:17:50,760 --> 00:17:52,160
TAKE THE STAGE TODAY.

538
00:17:52,160 --> 00:17:53,760
RESEARCH AT THE CLINICAL CENTER

539
00:17:53,760 --> 00:17:56,560
IS A TEAM EFFORT, AND WE MUST

540
00:17:56,560 --> 00:17:57,760
ACKNOWLEDGE KEY ROLES PLAYED BY

541
00:17:57,760 --> 00:17:59,040
RESEARCH NURSES AND OTHER TEAM

542
00:17:59,040 --> 00:17:59,280
MEMBERS.

543
00:17:59,280 --> 00:18:02,360
PERHAPS SOME OF YOU SAW THE

544
00:18:02,360 --> 00:18:03,080
CLINICAL CENTER'S PATIENT

545
00:18:03,080 --> 00:18:04,560
RECRUITMENT OFFICE WAS ACTIVE IN

546
00:18:04,560 --> 00:18:05,360
THE TWITTER CHAT.

547
00:18:05,360 --> 00:18:07,080
IF YOU AREN'T A PATIENT HERE,

548
00:18:07,080 --> 00:18:09,040
I'D LIKE TO INVITE YOU TO

549
00:18:09,040 --> 00:18:10,520
CONSIDER EXPLORING A CLINICAL

550
00:18:10,520 --> 00:18:11,080
TRIAL.

551
00:18:11,080 --> 00:18:12,920
YOU CAN FIND INFORMATION ABOUT

552
00:18:12,920 --> 00:18:14,640
NIH'S CLINICAL TRIALS ON THE

553
00:18:14,640 --> 00:18:16,760
RARE DISEASE DAY EVENT APP, AND

554
00:18:16,760 --> 00:18:21,880
ON THE HOSPITAL'S WEBSITE AT

555
00:18:21,880 --> 00:18:22,280
CC.NIH.GOV.

556
00:18:22,280 --> 00:18:24,800
THE CLINICAL CENTER'S QUEST FOR

557
00:18:24,800 --> 00:18:27,160
DISCOVERIES IN A SAFE,

558
00:18:27,160 --> 00:18:27,920
HIGH-QUALITY CARE ENVIRONMENT

559
00:18:27,920 --> 00:18:29,880
GENERALLY HOLDS THREE AREAS OF

560
00:18:29,880 --> 00:18:32,160
EMPHASIS, STUDY OF THE

561
00:18:32,160 --> 00:18:33,760
PATHOPHYSIOLOGY OF DISEASE,

562
00:18:33,760 --> 00:18:35,720
DEVELOPMENT OF NEW

563
00:18:35,720 --> 00:18:37,800
FIRST-IN-HUMAN THERAPEUTICS, AND

564
00:18:37,800 --> 00:18:39,240
DEDICATED RESEARCH ON RARE

565
00:18:39,240 --> 00:18:39,520
DISEASES.

566
00:18:39,520 --> 00:18:40,840
IN FOCUSING ON THESE THREE AREAS

567
00:18:40,840 --> 00:18:43,120
WE STRIVE TO PROVIDE HOPE TO

568
00:18:43,120 --> 00:18:44,520
PATIENTS AND THEIR FAMILIES.

569
00:18:44,520 --> 00:18:46,400
MORE PATIENTS WITH RARE DISEASES

570
00:18:46,400 --> 00:18:49,360
ARE SEEN AT OUR HOSPITAL THAN

571
00:18:49,360 --> 00:18:50,040
ANYWHERE ELSE.

572
00:18:50,040 --> 00:18:52,640
WHY DO WE STUDY RARE DISEASES?

573
00:18:52,640 --> 00:18:55,160
FIRST OF ALL, THEY ARE NOT SO

574
00:18:55,160 --> 00:18:56,840
RARE, ABOUT 7,000 TO 10,000 RARE

575
00:18:56,840 --> 00:18:58,040
DISEASES AFFECT HUMANS OF WHICH

576
00:18:58,040 --> 00:19:00,840
ONLY A FEW HUNDRED HAVE ANY

577
00:19:00,840 --> 00:19:02,760
TREATMENT AVAILABLE IN THE U.S.

578
00:19:02,760 --> 00:19:05,000
EACH RARE DISEASE DAY AFFECTS

579
00:19:05,000 --> 00:19:11,360
FEWER THAN 200,000 INDIVIDUALS, 

580
00:19:11,360 --> 00:19:12,120
HOWEVER THESE AFFECT

581
00:19:12,120 --> 00:19:13,160
COLLECTIVELY 30 MILLION PEOPLE

582
00:19:13,160 --> 00:19:14,640
NATIONWIDE, INCREASING EVERY DAY

583
00:19:14,640 --> 00:19:17,240
AS GENETIC BASIS FOR COMMON

584
00:19:17,240 --> 00:19:18,440
DISORDERS ARE DISCOVERED.

585
00:19:18,440 --> 00:19:19,880
OFTEN REVEALING COMMON DISEASES

586
00:19:19,880 --> 00:19:21,720
ARE ACTUALLY A COLLECTION OF

587
00:19:21,720 --> 00:19:22,800
DIFFERENT RARE DISEASES.

588
00:19:22,800 --> 00:19:26,360
BREAST CANCER IS ONE SUCH

589
00:19:26,360 --> 00:19:26,800
EXAMPLE.

590
00:19:26,800 --> 00:19:28,280
SECOND, AS AMERICA'S RESEARCH

591
00:19:28,280 --> 00:19:30,000
HOSPITAL, THE CLINICAL CENTER IS

592
00:19:30,000 --> 00:19:30,800
UNIQUELY POISED TO BRING

593
00:19:30,800 --> 00:19:32,560
TOGETHER PATIENTS WITH RARE

594
00:19:32,560 --> 00:19:34,560
DISEASES FROM ALL OVER THE

595
00:19:34,560 --> 00:19:35,760
NATION, AND INDEED PATIENTS FROM

596
00:19:35,760 --> 00:19:38,360
ALL OVER THE WORLD.

597
00:19:38,360 --> 00:19:40,520
WE CAN STUDY PATIENTS FOR LONG

598
00:19:40,520 --> 00:19:43,240
PERIODS OF TIME, WE'RE GOOD AT

599
00:19:43,240 --> 00:19:48,440
UNDERSTANDING DETAILS OF

600
00:19:48,440 --> 00:19:49,160
PATIENT'S DISEASE, PHENOTYPING,

601
00:19:49,160 --> 00:19:51,160
MAKING THIS A UNIQUE PLACE TO

602
00:19:51,160 --> 00:19:52,760
STUDY RARE DISEASES.

603
00:19:52,760 --> 00:19:55,240
THIRD, IN ADDITION TO PROVIDING

604
00:19:55,240 --> 00:19:56,760
HOPE TO INDIVIDUALS, STUDY OF

605
00:19:56,760 --> 00:19:59,120
RARE DISEASES CAN OFTEN HELP US

606
00:19:59,120 --> 00:20:00,520
UNDERSTAND MORE COMMON AILMENT

607
00:20:00,520 --> 00:20:00,800
THE.

608
00:20:00,800 --> 00:20:02,400
SOMETIMES LOSS OF FUNCTION OF

609
00:20:02,400 --> 00:20:04,160
ONE GENE PRODUCT AS MAY BE SEEN

610
00:20:04,160 --> 00:20:06,000
IN A RARE DISEASE TELLS US

611
00:20:06,000 --> 00:20:07,160
SOMETHING IMPORTANT ABOUT A

612
00:20:07,160 --> 00:20:07,760
COMMON DISEASE.

613
00:20:07,760 --> 00:20:09,640
ONE OFTEN TALKED ABOUT EXAMPLE

614
00:20:09,640 --> 00:20:12,040
FROM THE CLINICAL CENTER

615
00:20:12,040 --> 00:20:14,560
INVOLVES PATIENTS WITH CHRONIC

616
00:20:14,560 --> 00:20:16,040
GRANULOMATOUS DISEASE, PATIENTS

617
00:20:16,040 --> 00:20:18,160
WITH CGD HAVE WHITE BLOOD CELLS

618
00:20:18,160 --> 00:20:20,440
THAT FAIL TO MAKE REACTIVE

619
00:20:20,440 --> 00:20:22,360
OXYGEN PRODUCTS, AS A RESULT THE

620
00:20:22,360 --> 00:20:25,400
PATIENT CAN HAVE RECURRING

621
00:20:25,400 --> 00:20:26,920
LIFE-THREATENING INFECTIONS.

622
00:20:26,920 --> 00:20:30,560
WE FOUND DESPITE SERIOUS MEDICAL

623
00:20:30,560 --> 00:20:32,520
PROBLEMS, CGD PATIENTS ARE

624
00:20:32,520 --> 00:20:34,360
PROTECTED FROM ATHEROSCLEROSIS

625
00:20:34,360 --> 00:20:35,720
IN CAROTID ARTERIES, SUGGESTING

626
00:20:35,720 --> 00:20:37,200
THE MISSING ENZYME COULD NEED TO

627
00:20:37,200 --> 00:20:40,920
A NEW METHOD OF TREATING OR

628
00:20:40,920 --> 00:20:41,520
PREVENTING ATHEROSCLEROSIS IN

629
00:20:41,520 --> 00:20:43,160
THE GENERAL POPULATION.

630
00:20:43,160 --> 00:20:51,120
RARE DISEASE DAY IS ABOUT

631
00:20:51,120 --> 00:20:53,360
SCIENCE AND MEDICINE THEY MUST

632
00:20:53,360 --> 00:20:54,760
ENCOMPASS STORIES OF PEOPLE

633
00:20:54,760 --> 00:20:58,560
COPING WITH RARE DISEASE,

634
00:20:58,560 --> 00:21:00,840
FAMILIES LIVING A RARE DISEASE

635
00:21:00,840 --> 00:21:04,120
SUFFERER, COMMUNITIES AND

636
00:21:04,120 --> 00:21:06,040
MEMBERS OF ADVOCACY

637
00:21:06,040 --> 00:21:07,040
ORGANIZATIONS, NARRATIVES MATTER

638
00:21:07,040 --> 00:21:10,520
AND IT'S VITAL YOU'RE OUR

639
00:21:10,520 --> 00:21:12,120
PARTNERS.

640
00:21:12,120 --> 00:21:15,160
THANK YOU FOR PARTICIPATING AND

641
00:21:15,160 --> 00:21:17,360
BEING PARTNERS WITH THE NIH IN

642
00:21:17,360 --> 00:21:21,720
THIS IMPORTANT WORK.

643
00:21:21,720 --> 00:21:28,240
 

644
00:21:28,240 --> 00:21:29,560
>> HELLO, EVERYONE.

645
00:21:29,560 --> 00:21:32,320
WELCOME TO RARE DISEASE DAY

646
00:21:32,320 --> 00:21:32,880
2022.

647
00:21:32,880 --> 00:21:34,880
I'M HONORED TO BE HERE TODAY TO

648
00:21:34,880 --> 00:21:38,280
HELP YOU SHINE A LIGHT ON RARE

649
00:21:38,280 --> 00:21:38,560
DISEASES.

650
00:21:38,560 --> 00:21:40,960
AND FOR THE NEXT 15 MINUTES, TO

651
00:21:40,960 --> 00:21:46,080
SHINE A LIGHT ON CAREGIVERS OF 

652
00:21:46,080 --> 00:21:48,680
INDIVIDUALS WITH RARE DISEASES.

653
00:21:48,680 --> 00:21:50,520
THE JOURNEY WITH A RARE DISEASE

654
00:21:50,520 --> 00:21:52,760
CAN BE UNIQUE FOR EACH

655
00:21:52,760 --> 00:21:54,840
INDIVIDUAL, AND CAN HAVE SOME

656
00:21:54,840 --> 00:22:02,040
VERY COMMON ELEMENTS THAT MANY

657
00:22:02,040 --> 00:22:02,360
EXPERIENCE.

658
00:22:02,360 --> 00:22:03,560
OBVIOUSLY, RARE DISEASES IMPACT

659
00:22:03,560 --> 00:22:04,640
300 MILLION PEOPLE GLOBALLY.

660
00:22:04,640 --> 00:22:09,320
30 MILLION OF THEM HERE IN THE

661
00:22:09,320 --> 00:22:09,600
U.S. ALONE.

662
00:22:09,600 --> 00:22:10,800
MANY RARE DISEASES ARE

663
00:22:10,800 --> 00:22:14,440
ASSOCIATED WITH A LENGTHY TIME

664
00:22:14,440 --> 00:22:17,040
TO DIAGNOSIS, AND MANY ARE MORE

665
00:22:17,040 --> 00:22:19,160
CHRONIC IN NATURE WITH ELEMENTS

666
00:22:19,160 --> 00:22:20,920
THAT ALTHOUGH MANAGED MAY ALWAYS

667
00:22:20,920 --> 00:22:25,520
BE PART OF ONE'S LIFE.

668
00:22:25,520 --> 00:22:27,720
ANOTHER COMMONALITY IS THAT RARE

669
00:22:27,720 --> 00:22:29,320
DISEASES AFFECT MORE THAN THE

670
00:22:29,320 --> 00:22:31,960
INDIVIDUAL WITH THE DISEASE.

671
00:22:31,960 --> 00:22:33,680
THEY AFFECT MANY OTHERS,

672
00:22:33,680 --> 00:22:35,360
INCLUDING FAMILY MEMBERS, OFTEN

673
00:22:35,360 --> 00:22:38,200
PARENTS, WHO SERVE AS CAREGIVERS

674
00:22:38,200 --> 00:22:39,400
FOR THESE INDIVIDUALS.

675
00:22:39,400 --> 00:22:42,840
THESE ARE CAREGIVERS WHO ARE NOT

676
00:22:42,840 --> 00:22:45,200
PROFESSIONALLY PAID, THEY ARE

677
00:22:45,200 --> 00:22:46,560
NOT SPECIFICALLY TRAINED.

678
00:22:46,560 --> 00:22:49,320
THEY ARE GIVING OF THEMSELVES

679
00:22:49,320 --> 00:22:50,320
UNCONDITIONALLY TO THOSE THEY

680
00:22:50,320 --> 00:22:53,360
LOVE TO MAKE A DIFFERENCE IN

681
00:22:53,360 --> 00:22:53,960
THEIR LIFE.

682
00:22:53,960 --> 00:22:56,160
NOW, THERE ARE MANY RARE

683
00:22:56,160 --> 00:22:57,320
DISEASES BUT I JUST WANT TO

684
00:22:57,320 --> 00:22:59,240
CENTER US BY STARTING THE

685
00:22:59,240 --> 00:23:03,160
CONVERSATION WITH ONE.

686
00:23:03,160 --> 00:23:06,240
THAT IS POMPE'S DISEASE, THE

687
00:23:06,240 --> 00:23:08,760
METABOLIC DISORDER ALSO KNOWN AS

688
00:23:08,760 --> 00:23:12,160
GLYCOGEN STORAGE DISORDER.

689
00:23:12,160 --> 00:23:13,360
IT AFFECTS 1 IN 40,000

690
00:23:13,360 --> 00:23:17,480
INDIVIDUALS IN THE UNITED STATES

691
00:23:17,480 --> 00:23:18,280
ALONE.

692
00:23:18,280 --> 00:23:19,400
IT RESULTS FROM PATHOLOGICAL

693
00:23:19,400 --> 00:23:23,160
MUTATION IN THE GAA GENE, WHICH

694
00:23:23,160 --> 00:23:26,160
IS RESPONSIBLE FOR FOR PRODUCING

695
00:23:26,160 --> 00:23:28,280
AN ENZYME THAT HELPS TO TAKE

696
00:23:28,280 --> 00:23:29,520
GLYCOGEN AND CONVERT TO GLUCOSE,

697
00:23:29,520 --> 00:23:33,000
WHICH IS A SOURCE OF ENERGY FOR

698
00:23:33,000 --> 00:23:34,560
THE BODY.

699
00:23:34,560 --> 00:23:39,040
IT COMES FROM -- CONSIDERED AN

700
00:23:39,040 --> 00:23:39,640
AUTONOMIC RECESSIVE DISORDER,

701
00:23:39,640 --> 00:23:42,240
MEANING THAT TWO INDIVIDUALS WHO

702
00:23:42,240 --> 00:23:46,120
ARE CARRIERS, WHEN THEY MAKE AN

703
00:23:46,120 --> 00:23:47,760
OFFSPRING, EACH OFFSPRING HAS

704
00:23:47,760 --> 00:23:49,320
25% CHANCE OF BEING AFFECTED BY

705
00:23:49,320 --> 00:23:50,560
THAT DISEASE, EVEN THOUGH THE

706
00:23:50,560 --> 00:23:54,120
PARENTS DID NOT HAVE THE

707
00:23:54,120 --> 00:23:55,080
DISEASE.

708
00:23:55,080 --> 00:23:55,560
THEY WERE ONLY CARRIERS.

709
00:23:55,560 --> 00:23:59,560
THERE ARE TWO TYPES OR TWO

710
00:23:59,560 --> 00:24:01,320
FORMS, ONE BEGINS AS AN INFANT,

711
00:24:01,320 --> 00:24:03,320
THE OTHER IS LATER IN LIFE

712
00:24:03,320 --> 00:24:05,000
USUALLY AFTER 12 MONTHS.

713
00:24:05,000 --> 00:24:07,560
IT CAN INVOLVE MANY DIFFERENT

714
00:24:07,560 --> 00:24:10,920
PARTS OF THE BODY, THE HEART AS

715
00:24:10,920 --> 00:24:13,080
WELL AS MANY MUSCLES CREATING

716
00:24:13,080 --> 00:24:14,840
SIGNIFICANT WEAKNESS INCLUDING

717
00:24:14,840 --> 00:24:17,160
MUSCLES OF THE RESPIRATORY

718
00:24:17,160 --> 00:24:17,600
SYSTEM.

719
00:24:17,600 --> 00:24:20,000
IN 2006, THERE WAS A LIGHT

720
00:24:20,000 --> 00:24:22,360
SHINED ON POMPE'S DISEASE WHEN

721
00:24:22,360 --> 00:24:24,400
THE FDA APPROVED A SPECIFIC

722
00:24:24,400 --> 00:24:26,560
TREATMENT, THE ONLY TREATMENT,

723
00:24:26,560 --> 00:24:28,400
WHICH IS AN ENZYME REPLACEMENT

724
00:24:28,400 --> 00:24:30,560
THERAPY THAT IS GIVEN EVERY

725
00:24:30,560 --> 00:24:33,280
OTHER WEEK THROUGH AN IV TO

726
00:24:33,280 --> 00:24:34,960
INDIVIDUALS WITH THIS DISEASE.

727
00:24:34,960 --> 00:24:39,040
AND WITH THAT, THEN FOLLOWED

728
00:24:39,040 --> 00:24:40,320
NEWBORN SCREENING, CURRENTLY IN

729
00:24:40,320 --> 00:24:43,880
20 STATES PLUS DISTRICT OF

730
00:24:43,880 --> 00:24:45,360
COLUMBIA FOR POMPE'S DISEASE

731
00:24:45,360 --> 00:24:46,360
UPON BIRTH.

732
00:24:46,360 --> 00:24:48,200
ANOTHER WAY TO TELL THIS STORY

733
00:24:48,200 --> 00:24:52,160
IS TO INTRODUCE YOU TO LENA, MY

734
00:24:52,160 --> 00:24:53,680
GRANDDAUGHTER, BORN IN JULY OF

735
00:24:53,680 --> 00:24:57,720
2019, HERE IN THE STATE OF

736
00:24:57,720 --> 00:24:58,880
MARYLAND, WHO IMPLEMENTED

737
00:24:58,880 --> 00:25:02,040
NEWBORN SCREENING, ONE MONTH

738
00:25:02,040 --> 00:25:03,200
BEFORE SHE WAS BORN.

739
00:25:03,200 --> 00:25:06,560
I'D LIKE TO ALSO INTRODUCE YOU

740
00:25:06,560 --> 00:25:06,960
TO HER CAREGIVERS.

741
00:25:06,960 --> 00:25:09,760
THIS IS HER MOM, MY DAUGHTER,

742
00:25:09,760 --> 00:25:12,760
WHO IS A PRIMARY CAREGIVER FOR

743
00:25:12,760 --> 00:25:13,120
LENA.

744
00:25:13,120 --> 00:25:13,960
THIS WAS JUST ONE EXPERIENCE

745
00:25:13,960 --> 00:25:15,760
WHERE THEY WERE IN THE HOSPITAL,

746
00:25:15,760 --> 00:25:18,240
AND GOT TO SEE THE SUNRISE WHEN

747
00:25:18,240 --> 00:25:20,120
THEY WERE AT CHILDREN'S AS IT

748
00:25:20,120 --> 00:25:22,960
CAME UP IN THE MORNING WHEN LENA

749
00:25:22,960 --> 00:25:24,680
WAS ADMITTED FOR ADDITIONAL

750
00:25:24,680 --> 00:25:24,880
CARE.

751
00:25:24,880 --> 00:25:26,400
THIS IS HER POP-POP, MY HUSBAND,

752
00:25:26,400 --> 00:25:27,760
WHO SPENDS EVERY TUESDAY WITH

753
00:25:27,760 --> 00:25:28,120
HER.

754
00:25:28,120 --> 00:25:29,720
AND ONE OF THOSE TUESDAYS EVERY

755
00:25:29,720 --> 00:25:31,600
OTHER MONTH IS HER TREATMENT

756
00:25:31,600 --> 00:25:36,840
TUESDAY WE CALL IT WHERE SHE

757
00:25:36,840 --> 00:25:42,240
IS -- HER INJECTION IN A PORT SO

758
00:25:42,240 --> 00:25:42,880
SHE CAN RECEIVE ENZYME

759
00:25:42,880 --> 00:25:44,920
REPLACEMENT, HE SITS WITH HER.

760
00:25:44,920 --> 00:25:46,240
THERE'S HER FATHER, ALEX, WHO ON

761
00:25:46,240 --> 00:25:48,200
THIS PARTICULAR DAY IS MAKING

762
00:25:48,200 --> 00:25:50,640
SURE SHE FEELS LIKE EVERY OTHER

763
00:25:50,640 --> 00:25:52,480
CHILD, NOT ONE NECESSARILY WHO

764
00:25:52,480 --> 00:25:54,360
IS UNIQUE IN ANY SPECIFIC WAY.

765
00:25:54,360 --> 00:25:56,760
BUT A CHILD JUST HAVING FUN WITH

766
00:25:56,760 --> 00:25:58,320
HER DOG IN THE SNOW WHICH MEANT

767
00:25:58,320 --> 00:26:02,320
A LOT TO ALL OF US.

768
00:26:02,320 --> 00:26:04,240
SO NOW LET'S SHINE A LOT ON ALL

769
00:26:04,240 --> 00:26:05,760
OF THESE CAREGIVERS, ALL OF YOU

770
00:26:05,760 --> 00:26:07,000
OUT THERE WHO ARE CAREGIVERS FOR

771
00:26:07,000 --> 00:26:08,920
JUST A FEW MINUTES BEFORE YOU

772
00:26:08,920 --> 00:26:11,440
GET BACK TO SHINING A LIGHT ON

773
00:26:11,440 --> 00:26:14,120
ALL THE RESEARCH UPDATES FOR

774
00:26:14,120 --> 00:26:15,160
RARE DISEASE TODAY.

775
00:26:15,160 --> 00:26:16,960
CARING FOR PEOPLE WITH RARE

776
00:26:16,960 --> 00:26:20,160
DISEASE IS AS UNIQUE AS THE

777
00:26:20,160 --> 00:26:20,560
DISEASE ITSELF.

778
00:26:20,560 --> 00:26:22,680
THERE ARE DIFFERENT LEVELS OF

779
00:26:22,680 --> 00:26:24,760
CARE THAT INDIVIDUALS MAY NEED.

780
00:26:24,760 --> 00:26:26,480
THERE MAY BE TREATMENTS.

781
00:26:26,480 --> 00:26:27,440
THERE MAY NOT BE TREATMENTS

782
00:26:27,440 --> 00:26:28,760
AVAILABLE AT THIS TIME.

783
00:26:28,760 --> 00:26:30,040
IT MAY BE THAT YOU'RE THE ONLY

784
00:26:30,040 --> 00:26:32,520
CAREGIVER OR YOU MAY HAVE A TEAM

785
00:26:32,520 --> 00:26:33,240
AROUND YOU.

786
00:26:33,240 --> 00:26:34,880
THERE ARE OTHER THINGS THAT CAN

787
00:26:34,880 --> 00:26:36,400
BE COMPETING FOR THAT CARE,

788
00:26:36,400 --> 00:26:38,600
WHETHER CARE FOR OTHER CHILDREN

789
00:26:38,600 --> 00:26:39,960
OR OLDER FAMILY MEMBERS WHO ARE

790
00:26:39,960 --> 00:26:42,160
LIVING IN THE SAME HOME.

791
00:26:42,160 --> 00:26:45,480
THERE ARE MANY ROLES AND

792
00:26:45,480 --> 00:26:46,680
RESPONSIBILITIES ASSOCIATED WITH

793
00:26:46,680 --> 00:26:47,960
THIS PARTICULAR ROLE OF

794
00:26:47,960 --> 00:26:48,680
CAREGIVING FOR INDIVIDUALS WITH

795
00:26:48,680 --> 00:26:49,160
RARE DISEASE.

796
00:26:49,160 --> 00:26:53,280
AND YOU MAY BE WORKING OR NOT

797
00:26:53,280 --> 00:26:53,520
WORKING.

798
00:26:53,520 --> 00:26:54,600
EVERY SITUATION IS DIFFERENT.

799
00:26:54,600 --> 00:26:55,840
OF COURSE, THE CAREGIVER

800
00:26:55,840 --> 00:26:57,400
THEMSELVES MAY HAVE ISSUES WITH

801
00:26:57,400 --> 00:27:01,640
THEIR HEALTH THAT ALSO NEED

802
00:27:01,640 --> 00:27:01,920
ATTENTION.

803
00:27:01,920 --> 00:27:03,360
WELL, ALL OF THE EXPERIENCE MAY

804
00:27:03,360 --> 00:27:06,240
BE UNIQUE FOR EACH CAREGIVER AND

805
00:27:06,240 --> 00:27:06,760
RELATED PATIENT.

806
00:27:06,760 --> 00:27:09,560
A COMMON LET IS THAT CAREGIVING

807
00:27:09,560 --> 00:27:10,960
IS A CHRONIC STRESSOR.

808
00:27:10,960 --> 00:27:15,360
IT IS A COMPLEX AND COMPLICATED

809
00:27:15,360 --> 00:27:18,160
EXPERIENCE THAT INCLUDES

810
00:27:18,160 --> 00:27:18,880
MULTIPLE COMPETING PRIORITIES.

811
00:27:18,880 --> 00:27:20,120
OFTEN THERE ARE SIGNS AND

812
00:27:20,120 --> 00:27:22,360
SYMPTOMS PRESENT OF THIS STRESS

813
00:27:22,360 --> 00:27:24,920
THAT COULD INCLUDE ANXIETY,

814
00:27:24,920 --> 00:27:28,560
DEPRESSION, WORRY, FEELINGS OF

815
00:27:28,560 --> 00:27:29,080
LONELINESS.

816
00:27:29,080 --> 00:27:32,040
OFTEN, THE CAREGIVERS NEED TO

817
00:27:32,040 --> 00:27:32,720
MODIFY LIFESTYLE AND RESTRICT

818
00:27:32,720 --> 00:27:34,080
LEISURE ACTIVITY TO BE ABLE TO

819
00:27:34,080 --> 00:27:37,920
CARE FOR THEIR LOVED ONES.

820
00:27:37,920 --> 00:27:40,280
AND OFTEN THERE ARE MANY

821
00:27:40,280 --> 00:27:42,640
HEALTH-RELATED PROBLEMS THAT CAN

822
00:27:42,640 --> 00:27:44,360
PRESENT THEMSELVES, WHETHER IT'S

823
00:27:44,360 --> 00:27:45,640
FATIGUE OR DIFFICULTY SLEEPING

824
00:27:45,640 --> 00:27:48,960
THAT CAN CARRY OVER FOR THOSE

825
00:27:48,960 --> 00:27:50,320
CAREGIVERS.

826
00:27:50,320 --> 00:27:52,960
AND MANY OF THESE CREATE CHANGES

827
00:27:52,960 --> 00:27:55,160
IN OUR BODY THAT CAN AFFECT OUR

828
00:27:55,160 --> 00:27:56,680
IMMUNE SYSTEM, AS WELL AS OUR

829
00:27:56,680 --> 00:27:57,600
HEART.

830
00:27:57,600 --> 00:27:58,960
AND THESE ARE STUDIES -- AREAS

831
00:27:58,960 --> 00:28:01,560
THAT ARE BEING STUDIED MORE AND

832
00:28:01,560 --> 00:28:04,000
MORE TRYING TO UNDERSTAND WHAT

833
00:28:04,000 --> 00:28:06,280
THIS CHRONIC STRESSOR DOES TO

834
00:28:06,280 --> 00:28:09,560
INDIVIDUALS AND THEIR OVERALL

835
00:28:09,560 --> 00:28:09,760
HEALTH.

836
00:28:09,760 --> 00:28:12,920
SO WE KNOW THIS EXPOSURE TO THIS

837
00:28:12,920 --> 00:28:14,560
STRESSOR OF CAREGIVING CAN ALSO

838
00:28:14,560 --> 00:28:16,200
IMPACT ONE'S QUALITY OF LIFE.

839
00:28:16,200 --> 00:28:17,880
AND THE FINDINGS ON THE SLIDE

840
00:28:17,880 --> 00:28:19,720
ARE FROM A STUDY THAT WAS DONE

841
00:28:19,720 --> 00:28:23,760
IN PARENTS OF CHILDREN WITH RARE

842
00:28:23,760 --> 00:28:24,360
DISEASE.

843
00:28:24,360 --> 00:28:26,240
WE SEE THAT PARENTS OF

844
00:28:26,240 --> 00:28:27,520
INDIVIDUALS WITH RARE DISEASE

845
00:28:27,520 --> 00:28:32,560
WILL HAVE A QUALITY OF LIFE THAT

846
00:28:32,560 --> 00:28:35,040
IS SLIGHTLY LOWER THAN

847
00:28:35,040 --> 00:28:36,360
UNAFFECTED BY RARE DISEASE.

848
00:28:36,360 --> 00:28:39,080
WE ALSO KNOW FROM THIS STUDY

849
00:28:39,080 --> 00:28:40,840
THAT THE AREAS OF PSYCHOSOCIAL

850
00:28:40,840 --> 00:28:42,600
QUALITY OF LIFE ARE MORE

851
00:28:42,600 --> 00:28:43,480
AFFECTED IN THESE CAREGIVERS

852
00:28:43,480 --> 00:28:45,920
THAN PHYSICAL QUALITY OF LIFE.

853
00:28:45,920 --> 00:28:47,440
AND YOU CAN SEE HERE ON THE

854
00:28:47,440 --> 00:28:50,400
SLIDE AS WELL, A LIST OF

855
00:28:50,400 --> 00:28:51,800
PREDICTORS, THINGS THAT IF

856
00:28:51,800 --> 00:28:53,800
PRESENT MAY IMPACT THE

857
00:28:53,800 --> 00:28:55,160
CAREGIVER'S QUALITY OF LIFE MORE

858
00:28:55,160 --> 00:28:58,000
THAN IF THEY ARE NOT CURRENTLY

859
00:28:58,000 --> 00:29:01,400
PART OF THE CAREGIVING JOURNEY.

860
00:29:01,400 --> 00:29:03,480
SO IN SUMMARY, CARING FOR

861
00:29:03,480 --> 00:29:05,040
ANOTHER PERSON, NO MATTER HOW

862
00:29:05,040 --> 00:29:07,760
MUCH YOU LOVE THEM, IS HEAVY.

863
00:29:07,760 --> 00:29:09,960
AND YES, THERE ARE MANY POSITIVE

864
00:29:09,960 --> 00:29:12,720
ASPECTS OF CARING FOR PEOPLE WE

865
00:29:12,720 --> 00:29:13,560
LOVE, FINDING MEANING, AND BEING

866
00:29:13,560 --> 00:29:15,080
CONNECTED WITH THEM IN WAYS WE

867
00:29:15,080 --> 00:29:16,760
MAY NOT HAVE BEEN WHICH ARE ALL

868
00:29:16,760 --> 00:29:18,960
VERY MUCH A PART OF THE JOURNEY

869
00:29:18,960 --> 00:29:19,720
AS WELL.

870
00:29:19,720 --> 00:29:21,720
BUT I AM HERE TO MAKE SURE THAT

871
00:29:21,720 --> 00:29:24,640
YOU UNDERSTAND TODAY THAT

872
00:29:24,640 --> 00:29:27,280
BALANCING IS A KEY PART OF

873
00:29:27,280 --> 00:29:28,760
BUILDING RESILIENCE SO THAT YOU

874
00:29:28,760 --> 00:29:32,840
CAN BE THERE FOR YOUR LOVED ONE.

875
00:29:32,840 --> 00:29:35,560
SO CARING FOR SELF IS CRITICALLY

876
00:29:35,560 --> 00:29:35,960
IMPORTANT.

877
00:29:35,960 --> 00:29:38,360
AND SO THAT MEANS NOT ONLY ARE

878
00:29:38,360 --> 00:29:40,200
YOU CARING FOR YOUR LOVED ONE

879
00:29:40,200 --> 00:29:43,880
EVERY DAY, BUT YOU ARE SETTING

880
00:29:43,880 --> 00:29:45,680
SPECIFIC SELF-CARE OBJECTIVES OR

881
00:29:45,680 --> 00:29:46,720
GOALS AS WELL.

882
00:29:46,720 --> 00:29:48,960
THAT YOU'RE GIVING ATTENTION TO

883
00:29:48,960 --> 00:29:51,240
YOUR OWN EMOTIONAL HEALTH AND

884
00:29:51,240 --> 00:29:52,240
SPIRITUAL HEALTH.

885
00:29:52,240 --> 00:29:55,080
YOU ARE PAYING ATTENTION TO YOUR

886
00:29:55,080 --> 00:29:57,120
PHYSICAL HEALTH WITH NUTRITION

887
00:29:57,120 --> 00:29:58,200
AND ACTIVITY.

888
00:29:58,200 --> 00:30:00,000
YOU ARE MAKING SURE THAT IF

889
00:30:00,000 --> 00:30:03,080
THERE ARE ANY AREAS OF THAT

890
00:30:03,080 --> 00:30:05,160
MEDICAL CARE OR CARE YOU PROVIDE

891
00:30:05,160 --> 00:30:06,440
THAT YOU DON'T UNDERSTAND, THAT

892
00:30:06,440 --> 00:30:09,360
YOU TALK WITH YOUR PROVIDERS AND

893
00:30:09,360 --> 00:30:14,440
LEARN AND GET TRAINED SO YOU CAN

894
00:30:14,440 --> 00:30:16,960
BE CONFIDENT WITH CARE YOU

895
00:30:16,960 --> 00:30:17,560
PROVIDE.

896
00:30:17,560 --> 00:30:18,240
STRESS MANAGEMENT OVERALL, SINCE

897
00:30:18,240 --> 00:30:21,320
THIS IS A CHRONIC STRESSOR, THAT

898
00:30:21,320 --> 00:30:24,160
YOU PAY ATTENTION TO YOUR LEVEL

899
00:30:24,160 --> 00:30:25,360
OF STRESS AND FIND THAT BALANCE,

900
00:30:25,360 --> 00:30:29,760
SO THAT YOU CAN BE STRONG.

901
00:30:29,760 --> 00:30:31,840
SO TO HELP WITH THIS BALANCE,

902
00:30:31,840 --> 00:30:33,480
YOU'RE NOT ALONE.

903
00:30:33,480 --> 00:30:35,360
THERE ARE MANY PROFESSIONAL

904
00:30:35,360 --> 00:30:36,000
INTERVENTIONS THAT YOUR

905
00:30:36,000 --> 00:30:37,560
PROVIDERS CAN REFER YOU FOR

906
00:30:37,560 --> 00:30:40,280
WHICH CAN HELP SUPPORT YOU AND

907
00:30:40,280 --> 00:30:41,040
BUILD RESILIENCE.

908
00:30:41,040 --> 00:30:42,160
THE INFORMATION HERE ON THIS

909
00:30:42,160 --> 00:30:46,240
SLIDE COMES FROM A PAPER THAT

910
00:30:46,240 --> 00:30:48,360
REVIEWED 34 STUDIES INCLUDING

911
00:30:48,360 --> 00:30:49,760
PSYCHOSOCIAL INTERVENTIONS FOR

912
00:30:49,760 --> 00:30:51,840
CAREGIVERS OF INDIVIDUALS WITH

913
00:30:51,840 --> 00:30:52,360
RARE DISEASE.

914
00:30:52,360 --> 00:30:54,440
AND YOU CAN SEE THERE ARE MANY

915
00:30:54,440 --> 00:30:55,560
DIFFERENT TYPES OF

916
00:30:55,560 --> 00:30:56,440
INTERVENTIONS.

917
00:30:56,440 --> 00:30:58,520
AND MANY ARE ASSOCIATED WITH

918
00:30:58,520 --> 00:31:00,200
IMPROVED OUTCOMES.

919
00:31:00,200 --> 00:31:01,960
REDUCING STRESS, AS WELL AS

920
00:31:01,960 --> 00:31:04,600
DECREASING THE OVERALL SENSE OF

921
00:31:04,600 --> 00:31:07,240
BURDEN, AND IMPROVING FEELINGS

922
00:31:07,240 --> 00:31:08,360
OF ISOLATION.

923
00:31:08,360 --> 00:31:10,600
IT'S IMPORTANT TO NOTE, HOWEVER,

924
00:31:10,600 --> 00:31:14,080
THAT TO HELP OUR CAREGIVERS FIND

925
00:31:14,080 --> 00:31:16,120
AND MAINTAIN PARTICIPATION IN

926
00:31:16,120 --> 00:31:16,760
THESE SUCCESSFUL INTERVENTIONS,

927
00:31:16,760 --> 00:31:18,840
THEY NEED TO BE APPROPRIATELY

928
00:31:18,840 --> 00:31:22,360
ALIGNED WITH THE NEEDS OF THAT

929
00:31:22,360 --> 00:31:24,640
CAREGIVER, OR THOSE CAREGIVERS,

930
00:31:24,640 --> 00:31:28,240
AND BE ACCESSIBLE.

931
00:31:28,240 --> 00:31:30,240
ADDITIONALLY, THERE ARE EVERYDAY

932
00:31:30,240 --> 00:31:31,320
INTERVENTIONS TO SUPPORT

933
00:31:31,320 --> 00:31:31,560
BALANCE.

934
00:31:31,560 --> 00:31:33,920
AND I JUST WANT TO TAKE A MINUTE

935
00:31:33,920 --> 00:31:37,800
TO START THIS SLIDE BY SAYING

936
00:31:37,800 --> 00:31:39,520
PERMISSION GRANTED, TO ALL OF

937
00:31:39,520 --> 00:31:41,960
YOU CAREGIVERS OUT THERE, TO

938
00:31:41,960 --> 00:31:44,120
TAKE CARE OF YOURSELF.

939
00:31:44,120 --> 00:31:45,680
CAREGIVERS WILL NOT GIVE

940
00:31:45,680 --> 00:31:46,760
THEMSELVES PERMISSION TO TAKE

941
00:31:46,760 --> 00:31:49,280
CARE OF THEMSELVES ON A ROUTINE

942
00:31:49,280 --> 00:31:49,480
BASIS.

943
00:31:49,480 --> 00:31:52,760
SO I'M HERE TODAY TO MAKE A

944
00:31:52,760 --> 00:31:54,400
UNIVERSAL STATEMENT OF

945
00:31:54,400 --> 00:31:56,120
PERMISSION FOR ALL CAREGIVERS,

946
00:31:56,120 --> 00:31:58,840
OF THOSE WITH RARE DISEASE, TO

947
00:31:58,840 --> 00:32:00,600
PARTICIPATE IN THESE EVERYDAY

948
00:32:00,600 --> 00:32:02,880
SELF-CARE ACTIVITIES, SO THAT

949
00:32:02,880 --> 00:32:07,160
YOU CAN MAINTAIN AND GROW YOUR

950
00:32:07,160 --> 00:32:07,920
RESILIENCE.

951
00:32:07,920 --> 00:32:09,440
FINDING SUPPORT FOR JUST YOU, SO

952
00:32:09,440 --> 00:32:10,760
THAT YOU CAN SHARE YOUR

953
00:32:10,760 --> 00:32:14,480
FEELINGS, CAN BE VERY HELPFUL.

954
00:32:14,480 --> 00:32:16,120
IMPROVING THE COMMUNICATION

955
00:32:16,120 --> 00:32:18,520
STRATEGIES WITH YOUR FAMILY,

956
00:32:18,520 --> 00:32:21,000
FRIENDS, AND PROVIDERS.

957
00:32:21,000 --> 00:32:22,360
DELEGATING TO FRIENDS AND

958
00:32:22,360 --> 00:32:24,520
FAMILY, ON AREAS THAT YOU CAN

959
00:32:24,520 --> 00:32:27,600
LET GO OF, SO THAT YOU CAN FIND

960
00:32:27,600 --> 00:32:30,000
TIME FOR YOU TO EXERCISE, TO GET

961
00:32:30,000 --> 00:32:31,120
THOSE 30 MINUTES -- THAT

962
00:32:31,120 --> 00:32:33,120
30-MINUTE WALK OUT IN NATURE,

963
00:32:33,120 --> 00:32:36,480
WHICH IS KNOWN TO HELP US REDUCE

964
00:32:36,480 --> 00:32:37,320
STRESS.

965
00:32:37,320 --> 00:32:39,960
FINDING TIME FOR YOUR SPIRITUAL

966
00:32:39,960 --> 00:32:41,080
GROWTH, AND MOST IMPORTANTLY,

967
00:32:41,080 --> 00:32:45,200
FINDING TIME TO BE MINDFUL.

968
00:32:45,200 --> 00:32:46,320
BEING PRESENT IN EVERY DAY,

969
00:32:46,320 --> 00:32:47,720
EVERY MOMENT OF EVERY DAY, TO

970
00:32:47,720 --> 00:32:49,800
THE BEST OF YOUR ABILITY, SO

971
00:32:49,800 --> 00:32:53,960
THAT YOU CAN HAVE THAT STRESS

972
00:32:53,960 --> 00:32:57,760
MANAGED.

973
00:32:57,760 --> 00:32:59,200
THE NIH CLINICAL CENTER ALSO

974
00:32:59,200 --> 00:33:00,840
CARES VERY MUCH ABOUT HOW YOU'RE

975
00:33:00,840 --> 00:33:01,720
DOING.

976
00:33:01,720 --> 00:33:03,160
AND THERE ARE MANY RESOURCES

977
00:33:03,160 --> 00:33:05,320
RIGHT HERE AT THE CLINICAL

978
00:33:05,320 --> 00:33:05,560
CENTER.

979
00:33:05,560 --> 00:33:07,160
THERE'S A WEBSITE, THE ADDRESS

980
00:33:07,160 --> 00:33:08,880
IS LISTED THERE.

981
00:33:08,880 --> 00:33:11,680
YOU CAN GO AND LINK TO THEIR

982
00:33:11,680 --> 00:33:12,960
RESOURCES, AND THEY HAVE

983
00:33:12,960 --> 00:33:13,960
CLINICAL CENTER RESOURCES AS

984
00:33:13,960 --> 00:33:16,280
WELL AS FEDERAL AND NON-FEDERAL

985
00:33:16,280 --> 00:33:18,000
RESOURCES THAT YOU MIGHT FIND

986
00:33:18,000 --> 00:33:21,280
HELPFUL.

987
00:33:21,280 --> 00:33:25,840
SO IN SUMMARY, AS THE CAREGIVER

988
00:33:25,840 --> 00:33:28,520
YOU ARE, A KEY MEMBER, A VERY

989
00:33:28,520 --> 00:33:30,080
IMPORTANT MEMBER OF THE TEAM,

990
00:33:30,080 --> 00:33:32,360
AND SO YOU NEED TO STAY STRONG,

991
00:33:32,360 --> 00:33:34,600
SO THAT YOU SHOW UP WITH YOUR

992
00:33:34,600 --> 00:33:38,440
BEST TO HELP THOSE YOU LOVE.

993
00:33:38,440 --> 00:33:41,960
SO AS YOU PRIORITIZE YOUR

994
00:33:41,960 --> 00:33:43,360
SELF-CARE, REMEMBER THE ACRONYM

995
00:33:43,360 --> 00:33:45,240
TO REST.

996
00:33:45,240 --> 00:33:48,160
TO RELAX, EAT HEALTHY, AND STAY

997
00:33:48,160 --> 00:33:48,400
ACTIVE.

998
00:33:48,400 --> 00:33:51,720
SLEEP, AND TAKE CARE OF

999
00:33:51,720 --> 00:33:51,960
YOURSELF.

1000
00:33:51,960 --> 00:33:53,080
AND NATIONAL HEART, LUNG AND

1001
00:33:53,080 --> 00:33:54,800
BLOOD INSTITUTE HAS MANY, MANY

1002
00:33:54,800 --> 00:33:56,960
RESOURCES ON THEIR WEBSITE AS

1003
00:33:56,960 --> 00:33:59,960
WELL, TO HELP WITH SLEEP, AND

1004
00:33:59,960 --> 00:34:01,360
STRATEGIES FOR HEALTHY HEART.

1005
00:34:01,360 --> 00:34:03,360
AND IN ADDITION, I JUST WANT TO

1006
00:34:03,360 --> 00:34:05,560
TAKE TIME TO CALL OUT TO OUR

1007
00:34:05,560 --> 00:34:06,920
PROVIDERS WHO ARE CARING AND

1008
00:34:06,920 --> 00:34:09,880
ENGAGING WITH OUR FAMILY

1009
00:34:09,880 --> 00:34:10,160
CAREGIVERS.

1010
00:34:10,160 --> 00:34:12,080
THERE ARE NOT A LOT OF VERY

1011
00:34:12,080 --> 00:34:13,400
SPECIFIC STRATEGIES IN THE

1012
00:34:13,400 --> 00:34:14,880
LITERATURE THAT HAVE BEEN

1013
00:34:14,880 --> 00:34:15,480
DEVELOPED SPECIFICALLY FOR

1014
00:34:15,480 --> 00:34:17,760
CAREGIVERS OF THOSE WITH RARE

1015
00:34:17,760 --> 00:34:18,160
DISEASE.

1016
00:34:18,160 --> 00:34:19,720
HOWEVER, THERE IS AN EXTENSIVE

1017
00:34:19,720 --> 00:34:21,720
BODY OF LITERATURE ON CAREGIVERS

1018
00:34:21,720 --> 00:34:24,360
MORE BROADLY, AND MANY OF THOSE

1019
00:34:24,360 --> 00:34:25,400
PRINCIPLES ARE THE SAME.

1020
00:34:25,400 --> 00:34:27,280
AND ONE I WANTED TO HIGHLIGHT

1021
00:34:27,280 --> 00:34:31,760
OUT OF A PAPER IN JAMA, IS THAT

1022
00:34:31,760 --> 00:34:33,720
ASKING, ARE YOU OKAY, IS JUST

1023
00:34:33,720 --> 00:34:34,480
NOT ENOUGH.

1024
00:34:34,480 --> 00:34:36,960
WE NEED TO GO DEEP WITH OUR

1025
00:34:36,960 --> 00:34:37,560
CAREGIVERS.

1026
00:34:37,560 --> 00:34:39,240
SHINE THE LIGHT ON THEM WHENEVER

1027
00:34:39,240 --> 00:34:43,880
WE HAVE AN ENCOUNTER WITH OUR

1028
00:34:43,880 --> 00:34:44,160
PATIENTS.

1029
00:34:44,160 --> 00:34:46,600
AND ASK SPECIFIC QUESTIONS TO

1030
00:34:46,600 --> 00:34:48,640
MAKE SURE WE UNDERSTAND, REALLY,

1031
00:34:48,640 --> 00:34:50,200
HOW THEY ARE DOING.

1032
00:34:50,200 --> 00:34:52,760
SO WITH THAT, I WILL CLOSE AND

1033
00:34:52,760 --> 00:34:54,480
THANK YOU ALL FOR GIVING ME THE

1034
00:34:54,480 --> 00:34:56,360
OPPORTUNITY TO BE HERE TODAY.

1035
00:34:56,360 --> 00:34:59,560
AND I HOPE YOU CONTINUE TO ENJOY

1036
00:34:59,560 --> 00:35:01,720
SHINING A LIGHT ON RARE DISEASES

1037
00:35:01,720 --> 00:35:03,920
IN 2022.

1038
00:35:03,920 --> 00:35:04,120
FAREWELL.

1039
00:35:04,120 --> 00:35:08,360
>> GOOD MORNING.

1040
00:35:08,360 --> 00:35:10,840
I'M LARRY TABAK, ACTING DIRECTOR

1041
00:35:10,840 --> 00:35:11,440
OF NIH.

1042
00:35:11,440 --> 00:35:14,720
IT IS MY HONOR TO WELCOME YOU TO

1043
00:35:14,720 --> 00:35:19,200
THIS YEAR'S RARE DISEASE DAY AT

1044
00:35:19,200 --> 00:35:19,400
NIH.

1045
00:35:19,400 --> 00:35:21,960
NIH IS PROUD TO BE A LONGTIME

1046
00:35:21,960 --> 00:35:24,560
SUPPORTER OF RARE DISEASE

1047
00:35:24,560 --> 00:35:27,400
RESEARCH, AND WE'RE DELIGHTED TO

1048
00:35:27,400 --> 00:35:30,800
REAFFIRM THAT COMMITMENT TODAY

1049
00:35:30,800 --> 00:35:32,360
AND EVERY DAY.

1050
00:35:32,360 --> 00:35:33,720
EVIDENCE OF OUR COMMITMENT CAN

1051
00:35:33,720 --> 00:35:38,240
BE SEEN ACROSS OUR RESEARCH

1052
00:35:38,240 --> 00:35:39,480
PORTFOLIO, IT'S REFLECTED, FOR

1053
00:35:39,480 --> 00:35:46,360
EXAMPLE, IN THE DEPTH TO

1054
00:35:46,360 --> 00:35:48,880
UNDERSTAND RESEARCH DISEASES, IN

1055
00:35:48,880 --> 00:35:51,680
THIS FEET ESPECIALLY TANGIBLE

1056
00:35:51,680 --> 00:35:53,160
PROGRESS HAS BEEN MADE.

1057
00:35:53,160 --> 00:35:56,760
FOR EXAMPLE, TAKE THE RECENTLY

1058
00:35:56,760 --> 00:36:00,960
LAUNCHED BESPOKE GENE THERAPY

1059
00:36:00,960 --> 00:36:03,960
CONSORTIUM, BGTC, WHICH IS PART

1060
00:36:03,960 --> 00:36:09,760
OF NIH'S ACCELERATING MEDICINE'S

1061
00:36:09,760 --> 00:36:12,400
PARTNERSHIP PROGRAM. 

1062
00:36:12,400 --> 00:36:14,480
IT'S A PUBLIC/PRIVATE

1063
00:36:14,480 --> 00:36:17,360
PARTNERSHIP AMONG 11 NIH

1064
00:36:17,360 --> 00:36:19,960
INSTITUTES, CENTERS, AND

1065
00:36:19,960 --> 00:36:23,480
OFFICES, FDA, TEN PHARMACEUTICAL

1066
00:36:23,480 --> 00:36:30,400
COMPANIES, SEVEN NOT FOR PROFIT.

1067
00:36:30,400 --> 00:36:31,200
AMPBGDC IS ESTABLISHING

1068
00:36:31,200 --> 00:36:33,640
PLATFORMS AND STANDARDS TO SPEED

1069
00:36:33,640 --> 00:36:36,920
THE DEVELOPMENT AND DELIVERY OF

1070
00:36:36,920 --> 00:36:40,400
CUSTOMIZED OR BESPOKE GENE

1071
00:36:40,400 --> 00:36:40,920
THERAPIES.

1072
00:36:40,920 --> 00:36:42,720
THERAPIES THAT COULD TREAT

1073
00:36:42,720 --> 00:36:45,560
MILLIONS OF PEOPLE AFFECTED BY

1074
00:36:45,560 --> 00:36:47,400
RARE DISEASES, INCLUDING THOSE

1075
00:36:47,400 --> 00:36:51,360
DISEASES TOO RARE TO BE OF

1076
00:36:51,360 --> 00:36:53,480
COMMERCIAL INTEREST.

1077
00:36:53,480 --> 00:36:56,160
IT'S THE FIRST AMP INITIATIVE

1078
00:36:56,160 --> 00:36:58,760
FOCUSED ON RARE DISEASES, AND

1079
00:36:58,760 --> 00:37:03,800
THE FIRST TO FOCUS ON A

1080
00:37:03,800 --> 00:37:04,440
THERAPEUTIC PLATFORM.

1081
00:37:04,440 --> 00:37:06,400
NIH'S COMMITMENT TO RARE

1082
00:37:06,400 --> 00:37:08,280
DISEASES RESEARCH IS ALSO

1083
00:37:08,280 --> 00:37:15,000
EVIDENT IN THE RARE DISEASES

1084
00:37:15,000 --> 00:37:15,720
CLINICAL RESEARCH NETWORK,

1085
00:37:15,720 --> 00:37:21,720
RDCRN, WHICH INVOLVES TEN NIH 

1086
00:37:21,720 --> 00:37:25,360
INSTITUTES, CENTERS AND OFFICES,

1087
00:37:25,360 --> 00:37:27,840
166 PATIENT ADVOCACY GROUPS, 20

1088
00:37:27,840 --> 00:37:30,200
CONSORTIA, AND A SINGLE DATA

1089
00:37:30,200 --> 00:37:33,080
MANAGEMENT AND COORDINATING 

1090
00:37:33,080 --> 00:37:36,960
CENTER FOR THE NETWORK.

1091
00:37:36,960 --> 00:37:40,280
THROUGH THE RDCRN CONSORTIA,

1092
00:37:40,280 --> 00:37:43,320
PHYSICIAN-SCIENTISTS AND THEIR

1093
00:37:43,320 --> 00:37:43,960
MULTI-DISCIPLINARY TEAMS WORK

1094
00:37:43,960 --> 00:37:44,840
TOGETHER WITH PATIENT

1095
00:37:44,840 --> 00:37:48,160
ORGANIZATIONS AS ACTIVE RESEARCH

1096
00:37:48,160 --> 00:37:51,080
PARTNERS TO STUDY 181 RARE

1097
00:37:51,080 --> 00:37:55,480
DISEASES AT SITES ACROSS THE

1098
00:37:55,480 --> 00:37:55,960
NATION.

1099
00:37:55,960 --> 00:37:59,080
AMONG THE DISEASES BEING STUDIED

1100
00:37:59,080 --> 00:38:05,640
BY THE CONSORTIA ARE 

1101
00:38:05,640 --> 00:38:06,760
GLYCOPROTEIN-RELATED RARE

1102
00:38:06,760 --> 00:38:07,280
DISEASE.

1103
00:38:07,280 --> 00:38:08,920
GAUCHER IS AN INHERITED DISORDER

1104
00:38:08,920 --> 00:38:12,160
THAT CAN IMPACT LIVES OF

1105
00:38:12,160 --> 00:38:14,960
INDIVIDUALS ACROSS THE LIFESPAN.

1106
00:38:14,960 --> 00:38:18,440
IT CAN BE DEVASTATING.

1107
00:38:18,440 --> 00:38:19,960
THE PERINATAL LETHAL FORM LEADS

1108
00:38:19,960 --> 00:38:23,040
TO INFANTS SURVIVING ONLY A FEW

1109
00:38:23,040 --> 00:38:23,480
DAYS.

1110
00:38:23,480 --> 00:38:26,800
GAUCHER'S CAN IMPACT MANY OF THE

1111
00:38:26,800 --> 00:38:30,400
BODY'S ORGANS AND TISSUES

1112
00:38:30,400 --> 00:38:32,280
INCLUDING BONE, LUNG, BLOOD,

1113
00:38:32,280 --> 00:38:35,760
CENTRAL NERVOUS SYSTEM, EYES,

1114
00:38:35,760 --> 00:38:36,360
SKIN.

1115
00:38:36,360 --> 00:38:38,400
A BROAD SCOPE IS NEEDED TO TRULY

1116
00:38:38,400 --> 00:38:42,320
GAIN A BETTER UNDERSTANDING OF

1117
00:38:42,320 --> 00:38:45,760
THE DISORDER.

1118
00:38:45,760 --> 00:38:49,120
THROUGH THE RDCRN LYSOSOMAL

1119
00:38:49,120 --> 00:38:52,000
DISEASE NETWORK, MULTIPLE NIH

1120
00:38:52,000 --> 00:38:56,800
INSTITUTES INCLUDING NINDS,

1121
00:38:56,800 --> 00:39:01,280
NIDDK AND IN THE CATS -- AND

1122
00:39:01,280 --> 00:39:02,040
NCATS TO HELP UNDERSTAND THE

1123
00:39:02,040 --> 00:39:06,600
FULL NATURE OF THE DIFFERENT 

1124
00:39:06,600 --> 00:39:08,280
TYPES OF GAUCHER'S DISEASE.

1125
00:39:08,280 --> 00:39:10,800
NOW, WE'RE ALL AWARE OF HOW THE

1126
00:39:10,800 --> 00:39:13,760
ONGOING COVID PANDEMIC HAS

1127
00:39:13,760 --> 00:39:15,800
AFFECTED RESEARCH ON AND PATIENT

1128
00:39:15,800 --> 00:39:19,560
SUFFERING FROM DISEASES THAT ARE

1129
00:39:19,560 --> 00:39:20,880
NOT DIRECTLY COVID RELATED.

1130
00:39:20,880 --> 00:39:24,560
I DO WANT TO ASSURE YOU THAT NIH

1131
00:39:24,560 --> 00:39:27,160
CONTINUES TO ADDRESS OTHER

1132
00:39:27,160 --> 00:39:29,040
PRIORITIES AND DISEASES FOR

1133
00:39:29,040 --> 00:39:30,800
PATIENTS IN NEED, INCLUDING OF

1134
00:39:30,800 --> 00:39:35,440
COURSE THOSE WITH RARE DISEASES.

1135
00:39:35,440 --> 00:39:37,560
IN ADDITION, THERE ARE MANY

1136
00:39:37,560 --> 00:39:39,640
IMPORTANT LESSONS LEARNED FROM

1137
00:39:39,640 --> 00:39:44,360
COVID, INCLUDING PROGRESS IN

1138
00:39:44,360 --> 00:39:45,440
TELEMEDICINE, REMOTE CAPTURE,

1139
00:39:45,440 --> 00:39:48,080
SEAMLESS SCIENTIFIC SHARING, ALL

1140
00:39:48,080 --> 00:39:49,840
OF WHICH PROMISE TO ACCELERATE

1141
00:39:49,840 --> 00:39:54,200
PROMISE FOR RARE DISEASES AND

1142
00:39:54,200 --> 00:39:56,600
OTHER FAMILIES.

1143
00:39:56,600 --> 00:39:57,800
PATIENTS, FAMILIES, AND

1144
00:39:57,800 --> 00:40:01,240
PRACTITIONERS SHOULD LONG 

1145
00:40:01,240 --> 00:40:02,760
BENEFITS FROM THESE ADVANCES.

1146
00:40:02,760 --> 00:40:06,760
TO CLOSE I'D LIKE TO OFFER A FEW

1147
00:40:06,760 --> 00:40:09,280
THANK YOUS, FIRST I WANT TO

1148
00:40:09,280 --> 00:40:14,760
THANK THE RARE DISEASE CAUCUS

1149
00:40:14,760 --> 00:40:20,320
CO-CHAIRS, SENATORS KLOBUCHAR

1150
00:40:20,320 --> 00:40:21,320
AND WICKER, REPRESENTATIVES

1151
00:40:21,320 --> 00:40:23,800
BUTTERFIELD AND BILIRAKIS.

1152
00:40:23,800 --> 00:40:27,960
WE APPRECIATE THEIR CONTINUED

1153
00:40:27,960 --> 00:40:28,200
SUPPORT.

1154
00:40:28,200 --> 00:40:32,080
I WOULD LIKE TO OFFER A SPECIAL

1155
00:40:32,080 --> 00:40:34,120
THANK YOU TO DR. ANNE PARISER,

1156
00:40:34,120 --> 00:40:38,760
WHO LED OUR OFFICE OF RARE

1157
00:40:38,760 --> 00:40:40,160
DISEASES RESEARCH.

1158
00:40:40,160 --> 00:40:43,440
SHE IS RECENTLY RETIRED FROM

1159
00:40:43,440 --> 00:40:45,200
FEDERAL SERVICE, AFTER DEVOTING

1160
00:40:45,200 --> 00:40:47,800
MUCH OF HER CAREER AT BOTH NIH

1161
00:40:47,800 --> 00:40:54,920
AND FDA TO RARE DISEASES.

1162
00:40:54,920 --> 00:40:55,920
THANK YOU, ANNE.

1163
00:40:55,920 --> 00:40:58,840
WE LOOK YOU AND THANK YOU FOR

1164
00:40:58,840 --> 00:41:02,040
ALL HELPING US HEIGHTEN PUBLIC

1165
00:41:02,040 --> 00:41:03,680
AWARENESS OF RARE DISEASES.

1166
00:41:03,680 --> 00:41:06,280
I UNDERSTAND THERE ARE A FEW

1167
00:41:06,280 --> 00:41:07,160
QUESTIONS THAT HAVE BEEN POSED,

1168
00:41:07,160 --> 00:41:09,800
SO I'D LIKE TO JUST TAKE A

1169
00:41:09,800 --> 00:41:11,480
COUPLE MINUTES, I PROMISE TO

1170
00:41:11,480 --> 00:41:13,560
KEEP US ON TIME, BUT I'D LIKE TO

1171
00:41:13,560 --> 00:41:14,960
TAKE A COUPLE MINUTES TO JUST

1172
00:41:14,960 --> 00:41:18,120
ANSWER A FEW OF THEM.

1173
00:41:18,120 --> 00:41:19,440
ONE OF THE QUESTIONS WHICH I

1174
00:41:19,440 --> 00:41:28,200
KNOW IS ON MANY PEOPLE'S MIND IS

1175
00:41:28,200 --> 00:41:31,440
WHAT PROGRESS IS BEING MADE TO

1176
00:41:31,440 --> 00:41:32,840
FIND THE PERMANENT DIRECTOR OF

1177
00:41:32,840 --> 00:41:35,600
THE NIH.

1178
00:41:35,600 --> 00:41:41,840
AS YOU KNOW, DR. INSURE STEPPED

1179
00:41:41,840 --> 00:41:45,240
DOWN IN LATE DECEMBER LAST YEAR.

1180
00:41:45,240 --> 00:41:49,360
THE QUESTIONER IS ASKING THE

1181
00:41:49,360 --> 00:41:52,000
PROCESS THAT OCCURS.

1182
00:41:52,000 --> 00:41:54,520
THE NIH DIRECTOR IS A

1183
00:41:54,520 --> 00:41:58,160
PRESIDENTIAL APPOINTMENT THAT

1184
00:41:58,160 --> 00:42:01,080
REQUIRES SENATE CONFIRMATION.

1185
00:42:01,080 --> 00:42:02,960
AND SO INDIVIDUALS WILL BE

1186
00:42:02,960 --> 00:42:04,360
PROVIDED, NAMES OF INDIVIDUALS

1187
00:42:04,360 --> 00:42:08,280
WILL BE PROVIDED TO THE

1188
00:42:08,280 --> 00:42:09,360
PRESIDENT FOR HIS CONSIDERATION,

1189
00:42:09,360 --> 00:42:11,160
HE WILL OF COURSE MAKE THE FINAL

1190
00:42:11,160 --> 00:42:14,640
DECISION AS TO WHO TO NOMINATE,

1191
00:42:14,640 --> 00:42:16,960
AND THEN THAT INDIVIDUAL WILL

1192
00:42:16,960 --> 00:42:21,320
NEED TO BE CONFIRMED BY THE U.S.

1193
00:42:21,320 --> 00:42:21,680
SENATE.

1194
00:42:21,680 --> 00:42:24,160
THE QUESTIONER GOES ON TO ASK IF

1195
00:42:24,160 --> 00:42:25,680
WHETHER OR NOT I'M A CANDIDATE

1196
00:42:25,680 --> 00:42:26,760
FOR THE POSITION.

1197
00:42:26,760 --> 00:42:30,000
AND I CAN INDICATE THAT I AM

1198
00:42:30,000 --> 00:42:30,240
NOT.

1199
00:42:30,240 --> 00:42:34,360
I AM DEEPLY PRIVILEGED TO SERVE

1200
00:42:34,360 --> 00:42:36,360
AS THE ACTING NIH DIRECTOR, BUT,

1201
00:42:36,360 --> 00:42:37,760
YOU KNOW, NO DOUBT THE PRESIDENT

1202
00:42:37,760 --> 00:42:44,320
WILL BE ABLE TO FIND AN 

1203
00:42:44,320 --> 00:42:46,720
OUTSTANDING INDIVIDUAL TO ASSUME

1204
00:42:46,720 --> 00:42:48,160
THE, YOU KNOW, THE ROLE,

1205
00:42:48,160 --> 00:42:55,240
PERMANENT ROLE OF NIH DIRECTOR.

1206
00:42:55,240 --> 00:42:58,120
TIME PERHAPS FOR ONE OTHER

1207
00:42:58,120 --> 00:42:58,760
QUESTION.

1208
00:42:58,760 --> 00:43:01,440
AND THAT IS ASKING WHAT THE

1209
00:43:01,440 --> 00:43:03,760
NIH'S NUMBER ONE PRIORITY IS IN

1210
00:43:03,760 --> 00:43:04,280
2022.

1211
00:43:04,280 --> 00:43:06,680
AND I HAVE TO CONFESS, I CAN'T

1212
00:43:06,680 --> 00:43:10,280
DISTILL IT DOWN TO A SINGLE

1213
00:43:10,280 --> 00:43:10,560
PRIORITY.

1214
00:43:10,560 --> 00:43:13,600
BUT OBVIOUSLY, ALL OF US ARE

1215
00:43:13,600 --> 00:43:16,800
HERE IN SERVICE OF PATIENTS.

1216
00:43:16,800 --> 00:43:20,760
AND SO ALL THE THINGS THAT WE

1217
00:43:20,760 --> 00:43:23,560
DO, EITHER DIRECTLY OR

1218
00:43:23,560 --> 00:43:24,880
INDIRECTLY, ARE DESIGNED TO

1219
00:43:24,880 --> 00:43:28,360
IMPROVE THE LIVES OF OUR

1220
00:43:28,360 --> 00:43:28,720
PATIENTS.

1221
00:43:28,720 --> 00:43:33,480
WE HAVE A SERIES OF PRIORITIES

1222
00:43:33,480 --> 00:43:35,880
GOING FORWARD.

1223
00:43:35,880 --> 00:43:37,120
OBVIOUSLY WE'RE STILL WORKING

1224
00:43:37,120 --> 00:43:39,400
THROUGH ISSUES RELATED TO THE

1225
00:43:39,400 --> 00:43:41,040
PANDEMIC.

1226
00:43:41,040 --> 00:43:46,680
AS YOU JUST HEARD,

1227
00:43:46,680 --> 00:43:47,600
ADMINISTRATIVELY, WE WILL BE

1228
00:43:47,600 --> 00:43:51,120
GETTING READY TO WELCOME A NEW

1229
00:43:51,120 --> 00:43:51,880
PERMANENT NIH DIRECTOR.

1230
00:43:51,880 --> 00:43:56,240
AND AS MANY OF YOU KNOW,

1231
00:43:56,240 --> 00:43:59,000
STARTING WITH DR. COLLINS, NIH

1232
00:43:59,000 --> 00:44:02,560
MADE A MAJOR PRIORITY TO ENSURE

1233
00:44:02,560 --> 00:44:07,160
THAT WE HAVE EQUITY, BOTH IN

1234
00:44:07,160 --> 00:44:08,720
TERMS OF OUR RESEARCH EFFORTS,

1235
00:44:08,720 --> 00:44:11,760
BUT ALSO IN TERMS OF OUR

1236
00:44:11,760 --> 00:44:12,040
WORKFORCE.

1237
00:44:12,040 --> 00:44:15,040
AND SO CERTAINLY THESE ARE ALL

1238
00:44:15,040 --> 00:44:19,880
THINGS THAT WE WILL CONTINUE TO 

1239
00:44:19,880 --> 00:44:24,120
WORK THROUGH VERY CLOSELY

1240
00:44:24,120 --> 00:44:25,000
THROUGHOUT THE YEAR 2022.

1241
00:44:25,000 --> 00:44:28,160
I WANT TO KEEP US ALL ON TIME.

1242
00:44:28,160 --> 00:44:31,960
AND SO I'M GOING TO TURN IT BACK

1243
00:44:31,960 --> 00:44:34,480
NOW TO THE ORGANIZERS OF THIS

1244
00:44:34,480 --> 00:44:34,720
MEETING.

1245
00:44:34,720 --> 00:44:37,880
BUT I DO WANT TO THANK YOU ALL

1246
00:44:37,880 --> 00:44:41,280
FOR JOINING AND LOOK FORWARD TO

1247
00:44:41,280 --> 00:44:44,960
GETTING A READOUT OF THE FULL

1248
00:44:44,960 --> 00:44:45,760
PROGRAM.

1249
00:44:45,760 --> 00:44:46,680
THANKS VERY MUCH.

1250
00:44:46,680 --> 00:44:47,440
>> I'M SENATOR ROGER WICKER FROM

1251
00:44:47,440 --> 00:44:48,720
MISSISSIPPI.

1252
00:44:48,720 --> 00:44:49,640
IT'S MY HONOR TO PARTNER WITH

1253
00:44:49,640 --> 00:44:51,280
YOU IN THE FIGHT AGAINST RARE

1254
00:44:51,280 --> 00:44:53,400
DISEASES. 

1255
00:44:53,400 --> 00:44:55,640
THE NIH HAS PLAYED AN

1256
00:44:55,640 --> 00:44:57,440
INDISPENSABLE ROLE IN THE FIGHT

1257
00:44:57,440 --> 00:44:59,480
BRINGING HOPE TO MILLIONS OF

1258
00:44:59,480 --> 00:45:00,480
AMERICANS.

1259
00:45:00,480 --> 00:45:03,000
BY INVESTING IN THE NIH WE EQUIP

1260
00:45:03,000 --> 00:45:05,200
OUR BEST SCIENTISTS TO DEVELOP

1261
00:45:05,200 --> 00:45:07,240
CURES AND TREATMENTS THAT COULD

1262
00:45:07,240 --> 00:45:08,600
SAVE LIVES.

1263
00:45:08,600 --> 00:45:12,480
WITH OVER 25 MILLION AMERICANS

1264
00:45:12,480 --> 00:45:14,040
LIVING WITH RARE DISEASES, AND

1265
00:45:14,040 --> 00:45:14,880
350 MILLION AFFECTED WORLDWIDE,

1266
00:45:14,880 --> 00:45:18,000
IT IS ESSENTIAL THAT WE CONTINUE

1267
00:45:18,000 --> 00:45:19,280
THIS IMPORTANT WORK.

1268
00:45:19,280 --> 00:45:21,840
IN 2016, THE NIH SAW ITS LARGEST

1269
00:45:21,840 --> 00:45:24,120
FUNDING INCREASE IN A DECADE,

1270
00:45:24,120 --> 00:45:27,040
AND HAS CONTINUED TO RECEIVE

1271
00:45:27,040 --> 00:45:27,920
SUBSTANTIAL FUNDING EACH

1272
00:45:27,920 --> 00:45:29,040
SUBSEQUENT YEAR.

1273
00:45:29,040 --> 00:45:31,320
EVERY DOLLAR IS CRITICAL TO

1274
00:45:31,320 --> 00:45:32,600
FINDING SOLUTIONS TO THE MORE

1275
00:45:32,600 --> 00:45:34,480
THAN 7,000 TYPES OF RARE

1276
00:45:34,480 --> 00:45:38,520
DISEASES IN THE UNITED STATES.

1277
00:45:38,520 --> 00:45:39,840
MANY OF WHICH DISPROPORTIONATELY

1278
00:45:39,840 --> 00:45:40,880
AFFECT CHILDREN.

1279
00:45:40,880 --> 00:45:43,120
ALTHOUGH THE FOOD AND DRUG

1280
00:45:43,120 --> 00:45:44,400
ADMINISTRATION HAS APPROVED OVER

1281
00:45:44,400 --> 00:45:46,640
800 DRUGS AND PRODUCTS FOR THE

1282
00:45:46,640 --> 00:45:48,360
TREATMENT OF RARE DISEASES,

1283
00:45:48,360 --> 00:45:49,640
MILLIONS OF AMERICANS STILL

1284
00:45:49,640 --> 00:45:52,240
SUFFER FROM AILMENTS THAT HAVE

1285
00:45:52,240 --> 00:45:54,040
NO APPROVED OPTIONS FOR

1286
00:45:54,040 --> 00:45:54,280
TREATMENT.

1287
00:45:54,280 --> 00:45:56,440
AS CO-CHAIR OF THE RARE DISEASE

1288
00:45:56,440 --> 00:45:59,280
CAUCUS, I HAVE INTRODUCED THE

1289
00:45:59,280 --> 00:46:00,960
BENEFIT ACT, THIS CRITICAL

1290
00:46:00,960 --> 00:46:03,040
BIPARTISAN LEGISLATION WOULD

1291
00:46:03,040 --> 00:46:07,880
ELEVATE THE ROLE OF PATIENTS IN

1292
00:46:07,880 --> 00:46:12,440
THE DRUG APPROVAL PROCESS

1293
00:46:12,440 --> 00:46:13,280
ENSURING PATIENT EXPERIENCE IS

1294
00:46:13,280 --> 00:46:13,800
CONSIDERED.

1295
00:46:13,800 --> 00:46:18,640
THE BILL WOULD WORK TO IMPROVE

1296
00:46:18,640 --> 00:46:19,320
FDA'S BENEFIT-RISK FRAMEWORK,

1297
00:46:19,320 --> 00:46:21,640
IMPORTANT STEP IN THE DRUG

1298
00:46:21,640 --> 00:46:22,400
APPROVAL PROCESS.

1299
00:46:22,400 --> 00:46:24,680
I INTEND TO PRESS FORWARD IN

1300
00:46:24,680 --> 00:46:26,200
THIS FIGHT.

1301
00:46:26,200 --> 00:46:28,120
THERE'S STILL CHALLENGES AHEAD

1302
00:46:28,120 --> 00:46:29,480
BUT GAINS WE'VE MADE HOLD

1303
00:46:29,480 --> 00:46:31,680
PROMISE OF EVEN GREATER

1304
00:46:31,680 --> 00:46:33,640
BREAKTHROUGHS TO COME.

1305
00:46:33,640 --> 00:46:40,520
THANK YOU. 

1306
00:46:40,520 --> 00:46:42,800
>> THANK YOU FOR INVITING ME TO

1307
00:46:42,800 --> 00:46:45,240
SPEAK AT NIH'S RARE DISEASE DAY.

1308
00:46:45,240 --> 00:46:47,200
I WANT TO ESPECIALLY THANK NIH

1309
00:46:47,200 --> 00:46:49,160
FOR ITS TREMENDOUS WORK DURING

1310
00:46:49,160 --> 00:46:50,040
THE PANDEMIC.

1311
00:46:50,040 --> 00:46:51,800
RARE DISEASE DAY LOOKS LIKE A

1312
00:46:51,800 --> 00:46:53,320
LITTLE BIT DIFFERENT THIS YEAR,

1313
00:46:53,320 --> 00:46:55,400
BUT IT IS SO WONDERFUL TO SEE

1314
00:46:55,400 --> 00:46:57,560
THE VITAL WORK MOVING FORWARD

1315
00:46:57,560 --> 00:46:59,240
DURING THESE DIFFICULT TIMES.

1316
00:46:59,240 --> 00:47:02,080
EACH OF YOU ARE SO IMPORTANT TO

1317
00:47:02,080 --> 00:47:04,160
THESE FAMILIES, AND INDIVIDUALS

1318
00:47:04,160 --> 00:47:06,560
ACROSS THE COUNTRY LIVING WITH

1319
00:47:06,560 --> 00:47:07,840
RARE DISEASE DIAGNOSES, STILL

1320
00:47:07,840 --> 00:47:08,520
SEEKING ANSWERS.

1321
00:47:08,520 --> 00:47:11,800
THE WORK YOU DO IS INCREDIBLY

1322
00:47:11,800 --> 00:47:12,320
IMPORTANT.

1323
00:47:12,320 --> 00:47:14,760
I'M THRILLED TO PARTICIPATE IN

1324
00:47:14,760 --> 00:47:16,760
THIS VIRTUAL CONFERENCE.

1325
00:47:16,760 --> 00:47:18,800
THE NIH THROUGH THE NATIONAL

1326
00:47:18,800 --> 00:47:20,840
CENTER FOR ADVANCING

1327
00:47:20,840 --> 00:47:22,440
TRANSLATIONAL SCIENCES AND NIH

1328
00:47:22,440 --> 00:47:24,960
CLINICAL CENTER IS DOING

1329
00:47:24,960 --> 00:47:25,600
INCREDIBLE WORK, ADVANCING

1330
00:47:25,600 --> 00:47:27,240
TREATMENTS AND CURES FOR RARE

1331
00:47:27,240 --> 00:47:27,960
DISEASES.

1332
00:47:27,960 --> 00:47:30,600
IF WE WANT TO COMBAT RARE

1333
00:47:30,600 --> 00:47:33,440
DISEASES, WE MUST INCREASE OUR

1334
00:47:33,440 --> 00:47:35,640
INVESTMENTS IN RESEARCH, EXPAND

1335
00:47:35,640 --> 00:47:38,480
AND ENCOURAGE PARTICIPATION IN

1336
00:47:38,480 --> 00:47:39,160
CLINICAL TRIALS AND CREATE

1337
00:47:39,160 --> 00:47:40,880
INCENTIVES TO DEVELOP THE NEXT

1338
00:47:40,880 --> 00:47:43,320
GENERATION OF TREATMENTS AND

1339
00:47:43,320 --> 00:47:43,800
CURES.

1340
00:47:43,800 --> 00:47:44,960
THIS MEANS GETTING BUY-IN FROM

1341
00:47:44,960 --> 00:47:46,800
MEMBERS OF CONGRESS SO WE CAN

1342
00:47:46,800 --> 00:47:49,120
PASS BILLS TO HELP ACCELERATE

1343
00:47:49,120 --> 00:47:50,840
RESEARCH AND SPUR INNOVATION AND

1344
00:47:50,840 --> 00:47:52,400
THAT'S WHERE IT FITS INTO

1345
00:47:52,400 --> 00:47:53,240
TODAY'S PROGRAM.

1346
00:47:53,240 --> 00:47:56,200
I SERVE AS CO-CHAIR OF THE

1347
00:47:56,200 --> 00:47:57,600
CONGRESSIONAL RARE DISEASE

1348
00:47:57,600 --> 00:47:59,800
CAUCUS, THIS CAUCUS SERVES AS

1349
00:47:59,800 --> 00:48:01,160
INFORMATIONAL HUB FOR MEMBERS OF

1350
00:48:01,160 --> 00:48:03,080
CONGRESS AND THEIR STAFF.

1351
00:48:03,080 --> 00:48:05,720
WE WORK TO EDUCATE MEMBERS ON

1352
00:48:05,720 --> 00:48:11,480
ISSUES FACING THE RARE DISEASE

1353
00:48:11,480 --> 00:48:12,760
COMMUNITY, INVESTMENTS TO

1354
00:48:12,760 --> 00:48:16,600
DEVELOP TREATMENT AND CURES.

1355
00:48:16,600 --> 00:48:19,720
ECONOMIC IMPACT, CHALLENGES IN

1356
00:48:19,720 --> 00:48:20,480
GETTING DIAGNOSIS, ACCESSING

1357
00:48:20,480 --> 00:48:21,600
SPECIALISTS, IMPORTANCE OF

1358
00:48:21,600 --> 00:48:23,200
NEWBORN SCREENING PROGRAMS.

1359
00:48:23,200 --> 00:48:25,600
LAST YEAR WE HAD SUCCESS IN

1360
00:48:25,600 --> 00:48:27,480
ACHIEVING A FOUR-YEAR EXTENSION

1361
00:48:27,480 --> 00:48:32,080
OF THE RARE PEDIATRIC DISEASE 

1362
00:48:32,080 --> 00:48:32,960
PRIORITY REVIEW VOUCHER PROGRAM,

1363
00:48:32,960 --> 00:48:35,320
I WILL WORK TO ENSURE YOU WILL

1364
00:48:35,320 --> 00:48:36,520
HAVE FUNDING IN THIS CONGRESS, I

1365
00:48:36,520 --> 00:48:39,080
WILL WORK TO ENSURE YOU HAVE

1366
00:48:39,080 --> 00:48:41,800
FUNDING TO CONTINUE RESEARCHING

1367
00:48:41,800 --> 00:48:42,960
AND ADVOCATING FOR TREATMENTS.

1368
00:48:42,960 --> 00:48:44,800
I'M GRATEFUL FOR ALL OF THE WORK

1369
00:48:44,800 --> 00:48:45,880
THAT NIH DOES.

1370
00:48:45,880 --> 00:48:47,800
I'M GRATEFUL FOR THE WORK THE

1371
00:48:47,800 --> 00:48:48,440
PARTNERS DO.

1372
00:48:48,440 --> 00:48:50,520
I'M PROUD TO STAND WITH EACH OF

1373
00:48:50,520 --> 00:48:52,680
YOU IN THE RARE DISEASE

1374
00:48:52,680 --> 00:48:53,000
COMMUNITY.

1375
00:48:53,000 --> 00:48:54,880
PLEASE KNOW YOU HAVE AN ADVOCATE

1376
00:48:54,880 --> 00:48:57,320
IN CONGRESS AND I WILL CONTINUE

1377
00:48:57,320 --> 00:48:59,160
TO BE YOUR CHAMPION IN THIS

1378
00:48:59,160 --> 00:48:59,360
FIGHT.

1379
00:48:59,360 --> 00:49:08,840
THANK YOU SO VERY MUCH. 

1380
00:49:08,840 --> 00:49:11,800
>> OBVIOUSLY THE PARTICIPATE IN

1381
00:49:11,800 --> 00:49:15,840
THE RARE DISEASE 2022 AT NIH,

1382
00:49:15,840 --> 00:49:16,720
I'M CONGRESSMAN GUS BILIRAKIS

1383
00:49:16,720 --> 00:49:18,360
AND HAVE THE PRIVILEGE TO SERVE

1384
00:49:18,360 --> 00:49:21,880
AS A MEMBER OF THE ENERGY

1385
00:49:21,880 --> 00:49:22,480
COMMERCIAL SUBCOMMITTEE ON

1386
00:49:22,480 --> 00:49:24,600
HEALTH AS WELL AS SERVING AS

1387
00:49:24,600 --> 00:49:26,280
CO-CHAIR OF THE RARE DISEASE

1388
00:49:26,280 --> 00:49:30,160
CAUCUS HERE IN THE UNITED STATES

1389
00:49:30,160 --> 00:49:30,440
CONGRESS.

1390
00:49:30,440 --> 00:49:32,160
FOR ME, THIS WORK IS PERSONAL

1391
00:49:32,160 --> 00:49:34,440
BECAUSE I HAVE CLOSE FAMILY

1392
00:49:34,440 --> 00:49:36,520
MEMBERS AND FRIENDS WHO HAVE AND

1393
00:49:36,520 --> 00:49:39,480
CONTINUE TO SUFFER WITH RARE

1394
00:49:39,480 --> 00:49:41,120
DISEASES, UNFORTUNATELY.

1395
00:49:41,120 --> 00:49:43,520
I KNOW THE COST, BOTH IN

1396
00:49:43,520 --> 00:49:45,960
FINANCIAL TERMS BUT ALSO THE

1397
00:49:45,960 --> 00:49:48,720
HUMAN TOLL THAT BATTLING A RARE

1398
00:49:48,720 --> 00:49:50,120
DISEASE INFLICTS UPON THE

1399
00:49:50,120 --> 00:49:52,280
PATIENTS AND OF COURSE THEIR

1400
00:49:52,280 --> 00:49:54,240
LOVED ONES AND THEIR CARETAKERS.

1401
00:49:54,240 --> 00:49:57,480
AS YOU ALL KNOW, RARE DISEASES

1402
00:49:57,480 --> 00:50:01,120
ARE NOT A RARE PROBLEM.

1403
00:50:01,120 --> 00:50:02,840
AND THERE ARE ESTIMATED 7,000

1404
00:50:02,840 --> 00:50:05,320
RARE DISEASES WHICH AFFECT MORE

1405
00:50:05,320 --> 00:50:07,600
THAN 30 MILLION AMERICANS.

1406
00:50:07,600 --> 00:50:10,320
AND NEARLY 95% OF THESE

1407
00:50:10,320 --> 00:50:12,040
CONDITIONS HAVE NO KNOWN

1408
00:50:12,040 --> 00:50:13,560
TREATMENT OR CURE.

1409
00:50:13,560 --> 00:50:16,040
WE MADE SOME ADVANCES, BUT IT'S

1410
00:50:16,040 --> 00:50:18,160
JUST CLEARLY NOT ENOUGH.

1411
00:50:18,160 --> 00:50:22,320
WITH EACH RARE DISEASE IMPACTING

1412
00:50:22,320 --> 00:50:23,840
SMALLER PATIENTS, PATIENT

1413
00:50:23,840 --> 00:50:25,160
POPULATIONS, THERE ARE

1414
00:50:25,160 --> 00:50:26,960
CHALLENGES IN GETTING RESEARCH

1415
00:50:26,960 --> 00:50:30,040
AND ATTENTION EACH OF THE

1416
00:50:30,040 --> 00:50:30,440
PATIENTS DESERVE.

1417
00:50:30,440 --> 00:50:33,480
FOR THIS REASON, I'VE BEEN A

1418
00:50:33,480 --> 00:50:34,920
HUGE PROPONENT OF FEDERAL

1419
00:50:34,920 --> 00:50:36,200
INVESTMENTS IN RESEARCH THAT CAN

1420
00:50:36,200 --> 00:50:39,800
PROVIDE HOPE AND POTENTIAL FOR

1421
00:50:39,800 --> 00:50:43,400
CURES FOR MANY RARE DISEASES.

1422
00:50:43,400 --> 00:50:49,560
I'M PROUD MOST RECENT BUDGET WE 

1423
00:50:49,560 --> 00:50:50,760
PASSED INCLUDES A SUBSTANTIAL

1424
00:50:50,760 --> 00:50:51,920
INCREASE FOR NIH.

1425
00:50:51,920 --> 00:50:55,760
MOST EVERYONE AGREES WE NEED TO

1426
00:50:55,760 --> 00:50:57,160
FUND NIH.

1427
00:50:57,160 --> 00:50:58,240
ADEQUATELY.

1428
00:50:58,240 --> 00:50:59,960
INCLUDING FUNDS FOR CONGENITAL

1429
00:50:59,960 --> 00:51:01,080
HEART DISEASE RESEARCH FOR

1430
00:51:01,080 --> 00:51:05,280
DEVELOPMENT OF A NATIONAL

1431
00:51:05,280 --> 00:51:05,920
NEUROLOGICAL CONDITION

1432
00:51:05,920 --> 00:51:07,640
SURVEILLANCE SYSTEM.

1433
00:51:07,640 --> 00:51:13,360
AND FOR NATIONAL ALS REGISTRY.

1434
00:51:13,360 --> 00:51:16,080
AND BIOREPOSITORY.

1435
00:51:16,080 --> 00:51:20,200
RESEARCH IS THE KEY, LADIES AND

1436
00:51:20,200 --> 00:51:21,080
GENTLEMEN, AND BIOMEDICAL

1437
00:51:21,080 --> 00:51:26,760
RESEARCH SAVES LIVES.

1438
00:51:26,760 --> 00:51:29,080
I'M GLAD TO SEE THIS CONTINUES

1439
00:51:29,080 --> 00:51:31,920
TO BE AN NIH THAT BRINGS

1440
00:51:31,920 --> 00:51:35,480
TOGETHER MEMBERS OF CONGRESS

1441
00:51:35,480 --> 00:51:38,360
ACROSS BOTH AISLES, SO VERY

1442
00:51:38,360 --> 00:51:39,480
IMPORTANT, WE WORK ACROSS THE

1443
00:51:39,480 --> 00:51:41,120
AISLE ON THIS PARTICULAR ISSUE.

1444
00:51:41,120 --> 00:51:44,400
I WAS PROUD TO CO-SPONSOR THE

1445
00:51:44,400 --> 00:51:48,600
TRANSPLANT ACT WITH 

1446
00:51:48,600 --> 00:51:52,080
REPRESENTATIVE DORIS MATSUI LAST

1447
00:51:52,080 --> 00:51:56,400
YEAR, REAUTHORIZING THE CW BILL

1448
00:51:56,400 --> 00:51:57,840
YOUNG CELL TRANSPLANTATION

1449
00:51:57,840 --> 00:51:59,880
PROGRAM, NATIONAL CORD BLOOD

1450
00:51:59,880 --> 00:52:00,160
INVENTORY.

1451
00:52:00,160 --> 00:52:02,840
IT WILL HELP TENS OF THOUSANDS

1452
00:52:02,840 --> 00:52:05,760
OF AMERICANS OF ALL AGES WHO

1453
00:52:05,760 --> 00:52:08,000
SUFFER WITH DISEASES LIKE RARE

1454
00:52:08,000 --> 00:52:11,080
BLOOD CANCERS, SICKLE CELL

1455
00:52:11,080 --> 00:52:13,760
ANEMIA, AND OTHER INHERITED

1456
00:52:13,760 --> 00:52:16,360
METABOLIC OR IMMUNE DISORDERS.

1457
00:52:16,360 --> 00:52:19,040
AGAIN, IT WAS REAUTHORIZED.

1458
00:52:19,040 --> 00:52:21,120
SAVED SO MANY LIVES OVER THE

1459
00:52:21,120 --> 00:52:23,640
YEARS, THIS NEW LAW AND NEW

1460
00:52:23,640 --> 00:52:25,480
LEGISLATION PROVIDES HOPE TO

1461
00:52:25,480 --> 00:52:28,120
THOSE WHO ARE STRUGGLING WITH

1462
00:52:28,120 --> 00:52:29,160
LIFE-THREATENING ILLNESSES.

1463
00:52:29,160 --> 00:52:33,000
THAT'S OUR GOAL.

1464
00:52:33,000 --> 00:52:34,360
ADDITIONALLY, I'M PARTICULARLY

1465
00:52:34,360 --> 00:52:35,960
PROUD OF THE LEGISLATION I'M

1466
00:52:35,960 --> 00:52:38,800
LEADING WITH MY RARE DISEASE

1467
00:52:38,800 --> 00:52:40,760
CAUCUS CO-CHAIRS REPRESENTATIVE

1468
00:52:40,760 --> 00:52:43,560
C K BUTTERFIELD IN THE HOUSE AND

1469
00:52:43,560 --> 00:52:46,400
SENATORS KLOBUCHAR AND SENATOR

1470
00:52:46,400 --> 00:52:49,560
WICKER IN THE SENATE.

1471
00:52:49,560 --> 00:52:53,160
THE SPEEDING THERAPY ACCESS

1472
00:52:53,160 --> 00:52:55,960
TODAY OR H.R. 1730, WE NEED HELP

1473
00:52:55,960 --> 00:52:59,360
WITH THAT, TO MAKE SURE OUR

1474
00:52:59,360 --> 00:53:00,560
LEGISLATORS ARE AWARE OF THIS

1475
00:53:00,560 --> 00:53:02,520
AND I APPRECIATE ALL THE

1476
00:53:02,520 --> 00:53:05,120
ADVOCACY THAT YOU DO WITH REGARD

1477
00:53:05,120 --> 00:53:07,360
TO EVERYTHING, BUT ALSO

1478
00:53:07,360 --> 00:53:08,320
SPECIFICALLY THIS PARTICULAR

1479
00:53:08,320 --> 00:53:11,480
BILL WHICH WILL GO A LONG WAY.

1480
00:53:11,480 --> 00:53:14,400
THIS BILL WOULD ENACT TARGETED

1481
00:53:14,400 --> 00:53:17,600
IMPACTFUL AND ATTAINABLE POLICY

1482
00:53:17,600 --> 00:53:23,720
REFORMS AT THE FDA, AND ACROSS

1483
00:53:23,720 --> 00:53:24,960
HHS, TO ACCELERATE DEVELOPMENT

1484
00:53:24,960 --> 00:53:28,400
OF THERAPIES ACROSS THE SPECTRUM

1485
00:53:28,400 --> 00:53:30,280
FOR RARE DISEASES AND DISORDERS

1486
00:53:30,280 --> 00:53:33,560
AND FACILITATE PATIENT ACCESS TO

1487
00:53:33,560 --> 00:53:34,640
THESE THERAPIES.

1488
00:53:34,640 --> 00:53:36,520
THE STAT ACT WILL IMPROVE ACCESS

1489
00:53:36,520 --> 00:53:40,120
TO THERAPIES FOR THE RARE

1490
00:53:40,120 --> 00:53:41,880
DISEASE COMMUNITY INCLUDING

1491
00:53:41,880 --> 00:53:45,320
PATIENTS LIVING WITH AN ULTRA 

1492
00:53:45,320 --> 00:53:47,760
RARE DISEASE BY PROMOTING BETTER

1493
00:53:47,760 --> 00:53:48,760
INTERGOVERNMENTAL COORDINATION,

1494
00:53:48,760 --> 00:53:52,760
THAT'S THE KEY, AND ADVANCING

1495
00:53:52,760 --> 00:53:53,280
SCIENCE-BASED REGULATORY

1496
00:53:53,280 --> 00:53:54,080
POLICIES.

1497
00:53:54,080 --> 00:53:55,800
WHAT ARE THE MOST EXCITING

1498
00:53:55,800 --> 00:53:58,960
ASPECTS OF THE BILL, ONE IS THE

1499
00:53:58,960 --> 00:54:00,960
CREATION OF INTERCENTER

1500
00:54:00,960 --> 00:54:03,960
INSTITUTE ON RARE DISEASES AND

1501
00:54:03,960 --> 00:54:09,480
CONDITIONS WITHIN THE FDA.

1502
00:54:09,480 --> 00:54:10,480
THE INTERCENTER, INSTITUTE

1503
00:54:10,480 --> 00:54:12,440
MODEL, WAS FIRST AUTHORIZED

1504
00:54:12,440 --> 00:54:15,080
THROUGH THE 21ST CENTURY CURES

1505
00:54:15,080 --> 00:54:17,120
ACT, USED SUCCESSFULLY TO SPUR

1506
00:54:17,120 --> 00:54:18,360
DEVELOPMENT OF BETTER TREATMENTS

1507
00:54:18,360 --> 00:54:19,640
FOR CANCER.

1508
00:54:19,640 --> 00:54:22,160
WE WANT TO REPLICATE THAT

1509
00:54:22,160 --> 00:54:27,120
SUCCESS FOR THE RARE DISEASE 

1510
00:54:27,120 --> 00:54:27,480
COMMUNITY.

1511
00:54:27,480 --> 00:54:30,200
THE STAT ACT WOULD CRE AIR THE

1512
00:54:30,200 --> 00:54:33,560
RARE DISEASE ADVISORY COMMITTEE

1513
00:54:33,560 --> 00:54:38,960
AT HHS WITH MEMBERSHIP OF

1514
00:54:38,960 --> 00:54:40,760
SCIENTIFIC AND MEDICAL EXPERTISE

1515
00:54:40,760 --> 00:54:46,160
TO ADVISE ON REGULATORY PATHWAYS

1516
00:54:46,160 --> 00:54:46,920
IN REVIEW OF TREATMENTS,

1517
00:54:46,920 --> 00:54:50,400
INNOVATIVE AND CLINICAL TRIAL

1518
00:54:50,400 --> 00:54:52,880
DESIGN, QUALIFICATIONS OF

1519
00:54:52,880 --> 00:54:56,560
BIOMARKERS, STANDARDS ON THE

1520
00:54:56,560 --> 00:54:58,200
POTENTIAL REPURPOSES DRUGS TO

1521
00:54:58,200 --> 00:54:58,640
TREAT RARE DISEASES.

1522
00:54:58,640 --> 00:55:03,560
WE HAVE SO MUCH EVIDENCE THAT 

1523
00:55:03,560 --> 00:55:04,560
THAT WORKS AS WELL.

1524
00:55:04,560 --> 00:55:05,440
I'M EXCITED ABOUT THIS

1525
00:55:05,440 --> 00:55:06,760
LEGISLATION AND HAVE BEEN

1526
00:55:06,760 --> 00:55:09,280
WORKING TO HELP SECURE

1527
00:55:09,280 --> 00:55:10,000
ADDITIONAL CO-SPONSORS ON BOTH

1528
00:55:10,000 --> 00:55:11,680
SIDES OF THE AISLE WHERE YOU CAN

1529
00:55:11,680 --> 00:55:12,840
HELP ME.

1530
00:55:12,840 --> 00:55:15,600
I'LL ALSO BE LOOKING FOR OTHER

1531
00:55:15,600 --> 00:55:17,800
ADDITIONAL LEGISLATIVE VEHICLES,

1532
00:55:17,800 --> 00:55:19,400
THIS YEAR, MUST-PASS BILLS, TO

1533
00:55:19,400 --> 00:55:21,960
GET THIS BILL ACROSS THE FINISH

1534
00:55:21,960 --> 00:55:24,600
LINE AS ONE OF MY TOP

1535
00:55:24,600 --> 00:55:24,960
PRIORITIES.

1536
00:55:24,960 --> 00:55:27,560
THESE ARE JUST A COUPLE OF THE

1537
00:55:27,560 --> 00:55:31,480
MANY ITEMS WE'RE WORKING ON, AS

1538
00:55:31,480 --> 00:55:33,360
CHAMPIONS OF THE RARE DISEASE

1539
00:55:33,360 --> 00:55:33,960
COMMUNITY.

1540
00:55:33,960 --> 00:55:34,760
WE'RE WORKING TOGETHER.

1541
00:55:34,760 --> 00:55:37,360
IT IS AN HONOR TO SPEAK BEFORE

1542
00:55:37,360 --> 00:55:39,280
YOU TODAY, AND TO THANK YOU FOR

1543
00:55:39,280 --> 00:55:43,160
ALL YOU DO AS PART OF THIS

1544
00:55:43,160 --> 00:55:43,600
COMMUNITY.

1545
00:55:43,600 --> 00:55:45,800
IN THE GREAT WORDS OF HELEN

1546
00:55:45,800 --> 00:55:49,320
KELLER, I QUOTE, ALONE WE CAN DO

1547
00:55:49,320 --> 00:55:50,160
SO LITTLE.

1548
00:55:50,160 --> 00:55:53,360
BUT TOGETHER WE CAN DO SO MUCH.

1549
00:55:53,360 --> 00:55:56,160
IT'S SO VERY TRUE.

1550
00:55:56,160 --> 00:55:57,760
LAWMAKERS AND GOVERNMENT

1551
00:55:57,760 --> 00:55:59,760
OFFICIALS MEET WITH MANY PEOPLE

1552
00:55:59,760 --> 00:56:03,760
EACH DAY BUT I HAVE FOUND THAT

1553
00:56:03,760 --> 00:56:05,440
IT IS THE PERSONAL INDIVIDUAL

1554
00:56:05,440 --> 00:56:08,160
STORIES THAT TRULY MAKE THE

1555
00:56:08,160 --> 00:56:09,920
BIGGEST IMPACT, PARTICULARLY ON

1556
00:56:09,920 --> 00:56:11,360
THIS ISSUE.

1557
00:56:11,360 --> 00:56:13,560
SHARING THE CHALLENGES THAT YOU

1558
00:56:13,560 --> 00:56:16,480
AND YOUR LOVED ONES FACE DUE TO

1559
00:56:16,480 --> 00:56:19,240
RARE DISEASES CAN HELP TO GARNER

1560
00:56:19,240 --> 00:56:21,640
MUCH-NEEDED SUPPORT FOR THE

1561
00:56:21,640 --> 00:56:22,400
LEGISLATIVE AND REGULATORY

1562
00:56:22,400 --> 00:56:25,480
CHANGES WE AS A RARE DISEASE

1563
00:56:25,480 --> 00:56:29,760
COMMUNITY ARE HOPING TO MAKE TO

1564
00:56:29,760 --> 00:56:32,160
GET RECOGNITION, DIAGNOSIS, AND

1565
00:56:32,160 --> 00:56:33,680
ULTIMATELY TREATMENTS AND CURES.

1566
00:56:33,680 --> 00:56:34,760
THAT'S THE GOAL.

1567
00:56:34,760 --> 00:56:37,720
SO THANK YOU FOR GETTING OUTSIDE

1568
00:56:37,720 --> 00:56:39,960
YOUR COMFORT ZONE.

1569
00:56:39,960 --> 00:56:40,760
AND MAKING A POSITIVE DIFFERENCE

1570
00:56:40,760 --> 00:56:42,960
IN THE LIVES OF THOSE LIVING

1571
00:56:42,960 --> 00:56:44,160
WITH RARE DISEASES.

1572
00:56:44,160 --> 00:56:47,200
I KNOW YOU WILL CONTINUE TO DO

1573
00:56:47,200 --> 00:56:47,880
GREAT WORK.

1574
00:56:47,880 --> 00:56:49,760
AGAIN, THANK YOU FOR

1575
00:56:49,760 --> 00:56:50,360
PARTICIPATING TODAY.

1576
00:56:50,360 --> 00:56:53,760
AND THANK YOU FOR YOUR SUPPORT

1577
00:56:53,760 --> 00:56:55,160
OF THIS WORTH WHILE ENDEAVOR.

1578
00:56:55,160 --> 00:56:56,840
I WILL TELL YOU THIS.

1579
00:56:56,840 --> 00:56:59,120
HOPEFULLY NEXT YEAR WE WILL MEET

1580
00:56:59,120 --> 00:57:02,120
IN PERSON, BUT THANK YOU FOR ALL

1581
00:57:02,120 --> 00:57:06,440
YOUR GREAT WORK.

1582
00:57:06,440 --> 00:57:13,560
>> I'M VINCE BONHAM, ACTING

1583
00:57:13,560 --> 00:57:20,960
DEPUTY DIRECTOR OF THE HUMAN  

1584
00:57:20,960 --> 00:57:21,800
HUMAN GENOME INSTITUTE.

1585
00:57:21,800 --> 00:57:24,160
SESSION 1, THE ISSUE OF THINKING

1586
00:57:24,160 --> 00:57:25,560
ABOUT EQUITY OF CARE IN RARE

1587
00:57:25,560 --> 00:57:26,760
DISEASE IS AN IMPORTANT ISSUE

1588
00:57:26,760 --> 00:57:28,400
THAT THE COMMUNITY HAS BEEN

1589
00:57:28,400 --> 00:57:28,960
THINKING ABOUT.

1590
00:57:28,960 --> 00:57:31,760
SO I WANT YOU TO THINK ABOUT

1591
00:57:31,760 --> 00:57:32,080
THIS QUESTION.

1592
00:57:32,080 --> 00:57:34,840
WHAT DOES HEALTH EQUITY MEAN FOR

1593
00:57:34,840 --> 00:57:36,800
RARE DISEASE RESEARCH AND

1594
00:57:36,800 --> 00:57:38,000
CLINICAL CARE?

1595
00:57:38,000 --> 00:57:40,640
HOW CAN WE IMPROVE EQUITY IN THE

1596
00:57:40,640 --> 00:57:41,320
WORK WE'RE DOING?

1597
00:57:41,320 --> 00:57:43,640
THIS IS NOT A NEW ISSUE FOR THE

1598
00:57:43,640 --> 00:57:45,600
FIELD OF RARE DISEASE.

1599
00:57:45,600 --> 00:57:47,000
THE COMMUNITY ACROSS THE COUNTRY

1600
00:57:47,000 --> 00:57:49,080
AND THE GLOBE IS THINKING ABOUT

1601
00:57:49,080 --> 00:57:51,160
THIS QUESTION OF EQUITY AND HOW

1602
00:57:51,160 --> 00:57:55,920
DO WE BRING EQUITY INTO RARE

1603
00:57:55,920 --> 00:57:56,280
DISEASE.

1604
00:57:56,280 --> 00:57:57,920
AN AREA WITH SIGNIFICANT ISSUES

1605
00:57:57,920 --> 00:57:58,640
OF HEALTH DISPARITIES,

1606
00:57:58,640 --> 00:57:59,760
DIFFERENCES WITH REGARDS TO

1607
00:57:59,760 --> 00:58:03,040
ACCESS TO CARE, HOW DO WE

1608
00:58:03,040 --> 00:58:04,560
PROVIDE MORE EQUITY FOR

1609
00:58:04,560 --> 00:58:08,120
INDIVIDUALS ACROSS THE UNITED

1610
00:58:08,120 --> 00:58:09,200
STATES AND GLOBALLY?

1611
00:58:09,200 --> 00:58:10,600
I'M AT THE NATIONAL INSTITUTES

1612
00:58:10,600 --> 00:58:13,880
OF HEALTH.

1613
00:58:13,880 --> 00:58:15,320
IT IS THE LEADING RESEARCH

1614
00:58:15,320 --> 00:58:16,480
INSTITUTION IN OUR COUNTRY.

1615
00:58:16,480 --> 00:58:18,800
THIS IS AN IMPORTANT AREA FOR US

1616
00:58:18,800 --> 00:58:22,160
WITH REGARDS TO THINKING ABOUT

1617
00:58:22,160 --> 00:58:24,280
ISSUES OF EQUITY, JUSTICE,

1618
00:58:24,280 --> 00:58:26,120
BIOMEDICAL RESEARCH.

1619
00:58:26,120 --> 00:58:28,400
IN MARCH OF 2021, NIH

1620
00:58:28,400 --> 00:58:30,040
ESTABLISHED A NEW INITIATIVE

1621
00:58:30,040 --> 00:58:32,000
CALLED UNITE INITIATIVE.

1622
00:58:32,000 --> 00:58:35,360
THIS INITIATIVE AIMS TO

1623
00:58:35,360 --> 00:58:38,160
ESTABLISH AN EQUITABLE CULTURE

1624
00:58:38,160 --> 00:58:40,000
WITH BIOMEDICAL RESEARCH

1625
00:58:40,000 --> 00:58:42,320
ENTERPRISE, REDUCE BARRIERS TO

1626
00:58:42,320 --> 00:58:45,120
RACIAL INEQUITIES AND ENHANCE

1627
00:58:45,120 --> 00:58:46,160
BIOMEDICAL RESEARCH EQUITY.

1628
00:58:46,160 --> 00:58:49,400
I ENCOURAGE YOU TO GO TO OUR

1629
00:58:49,400 --> 00:58:51,960
WEBSITE TO LEARN MORE ABOUT THE

1630
00:58:51,960 --> 00:58:53,000
UNITE INITIATIVE.

1631
00:58:53,000 --> 00:58:55,160
IT'S A MAJOR FOCUS BY THE

1632
00:58:55,160 --> 00:58:56,800
NATIONAL INSTITUTES OF HEALTH TO

1633
00:58:56,800 --> 00:58:59,760
ADDRESS ISSUES OF STRUCTURAL

1634
00:58:59,760 --> 00:59:00,760
RACISM IN BIOMEDICAL RESEARCH.

1635
00:59:00,760 --> 00:59:04,600
WHAT I WANT TO DO WITH MY SHORT

1636
00:59:04,600 --> 00:59:07,760
TIME TODAY IS TALK ABOUT THREE

1637
00:59:07,760 --> 00:59:09,960
CONCEPTS, DIVERSITY IN RESEARCH,

1638
00:59:09,960 --> 00:59:11,000
DIVERSITY IN BIOMEDICAL

1639
00:59:11,000 --> 00:59:12,200
WORKFORCE, HEALTH EQUITY.

1640
00:59:12,200 --> 00:59:15,320
AND THINK ABOUT THESE CONCEPTS,

1641
00:59:15,320 --> 00:59:17,360
RELATED TO RARE DISEASES.

1642
00:59:17,360 --> 00:59:19,200
WHEN WE THINK ABOUT DIVERSITY

1643
00:59:19,200 --> 00:59:21,600
AND THE MEANING OF DIVERSITY WE

1644
00:59:21,600 --> 00:59:24,160
ALL THINK ABOUT THOSE THINGS WE

1645
00:59:24,160 --> 00:59:25,440
CAN SEE.

1646
00:59:25,440 --> 00:59:27,960
TRAITS THAT IDENTIFY AN

1647
00:59:27,960 --> 00:59:29,280
INDIVIDUAL THAT PERCEIVE

1648
00:59:29,280 --> 00:59:29,800
DIFFERENCE.

1649
00:59:29,800 --> 00:59:34,080
WE OFTEN THINK ABOUT ETHNICITY,

1650
00:59:34,080 --> 00:59:35,160
RACE, NATIONALITY, GENDER,

1651
00:59:35,160 --> 00:59:37,040
DISABILITY, SOCIOECONOMIC

1652
00:59:37,040 --> 00:59:37,280
STATUS.

1653
00:59:37,280 --> 00:59:39,360
BUT THAT'S REALLY ONLY THE TIP

1654
00:59:39,360 --> 00:59:40,560
OF THE ICEBERG.

1655
00:59:40,560 --> 00:59:42,720
WHEN WE THINK ABOUT DIVERSITY,

1656
00:59:42,720 --> 00:59:44,000
IT'S MANY MORE THINGS THAN

1657
00:59:44,000 --> 00:59:47,440
ISSUES OF RACE AND ETHNICITY.

1658
00:59:47,440 --> 00:59:51,040
IT'S THINKING STYLES, LANGUAGE,

1659
00:59:51,040 --> 00:59:51,360
PERSPECTIVE.

1660
00:59:51,360 --> 00:59:51,800
RELIGION, EXPERIENCE,

1661
00:59:51,800 --> 00:59:52,680
NATIONALITY, GEOGRAPHY.

1662
00:59:52,680 --> 00:59:55,160
WE NEED TO THINK ABOUT DIVERSITY

1663
00:59:55,160 --> 00:59:57,280
IN A VERY DIVERSE WAY WHEN WE

1664
00:59:57,280 --> 00:59:58,800
THINK ABOUT RARE DISEASES.

1665
00:59:58,800 --> 01:00:02,040
BUT WE MUST FOCUS IN ON

1666
01:00:02,040 --> 01:00:03,480
DIVERSITY IN RESEARCH.

1667
01:00:03,480 --> 01:00:05,560
AT THE NATIONAL HUMAN GENOME

1668
01:00:05,560 --> 01:00:08,680
RESEARCH INSTITUTE WHERE I AM AN

1669
01:00:08,680 --> 01:00:09,400
INVESTIGATOR AND DEPUTY

1670
01:00:09,400 --> 01:00:11,320
DIRECTOR, ONE OF THE MAJOR

1671
01:00:11,320 --> 01:00:13,400
ISSUES THAT WE'RE FOCUSED IS HOW

1672
01:00:13,400 --> 01:00:16,680
CAN WE INCREASE THE DIVERSITY OF

1673
01:00:16,680 --> 01:00:18,800
ANCESTRAL POPULATIONS IN GENETIC

1674
01:00:18,800 --> 01:00:19,600
STUDIES BECAUSE THIS IS

1675
01:00:19,600 --> 01:00:21,920
IMPORTANT FOR BOTH RARE DISEASES

1676
01:00:21,920 --> 01:00:25,840
AS WELL AS MORE COMMON DISEASES.

1677
01:00:25,840 --> 01:00:27,800
BECAUSE UNDERSTANDING GENETIC

1678
01:00:27,800 --> 01:00:29,800
VARIATION IS IMPORTANT TO

1679
01:00:29,800 --> 01:00:30,760
IDENTIFY NEW TREATMENTS AND

1680
01:00:30,760 --> 01:00:33,600
IMPROVE HEALTH OF ALL

1681
01:00:33,600 --> 01:00:33,960
INDIVIDUALS.

1682
01:00:33,960 --> 01:00:36,800
WE ALSO NEED TO THINK ABOUT THE

1683
01:00:36,800 --> 01:00:38,960
ISSUE OF DIVERSITY WITH REGARDS

1684
01:00:38,960 --> 01:00:40,760
TO RESEARCH AND THINKING ABOUT

1685
01:00:40,760 --> 01:00:41,360
THE WORKFORCE.

1686
01:00:41,360 --> 01:00:44,120
WHO IS IN THE WORKFORCE?

1687
01:00:44,120 --> 01:00:45,760
THIS SLIDE I SHARE WITH YOU HERE

1688
01:00:45,760 --> 01:00:50,120
IS A SLIDE THAT REALLY SHOWS THE

1689
01:00:50,120 --> 01:00:51,120
PIPELINE OF BIOMEDICAL

1690
01:00:51,120 --> 01:00:56,560
RESEARCHERS, AND YOU SEE HERE

1691
01:00:56,560 --> 01:01:01,440
THAT 2000, 2008, ONLY 7% OF

1692
01:01:01,440 --> 01:01:03,200
BIOMEDICAL RESEARCHERS RECEIVING

1693
01:01:03,200 --> 01:01:06,360
PhDs WERE FROM

1694
01:01:06,360 --> 01:01:07,760
UNDERREPRESENTED MINORITY

1695
01:01:07,760 --> 01:01:08,640
BACKGROUNDS.

1696
01:01:08,640 --> 01:01:11,840
NOW IT'S ABOUT 18% IN STEMM

1697
01:01:11,840 --> 01:01:12,520
PhD fields.

1698
01:01:12,520 --> 01:01:15,920
OUR TRAINING PROGRAMS HAVE GONE

1699
01:01:15,920 --> 01:01:19,600
FROM 10% IN 2012 TO 22%

1700
01:01:19,600 --> 01:01:20,800
UNDERREPRESENTED POPULATIONS IN

1701
01:01:20,800 --> 01:01:21,360
2020.

1702
01:01:21,360 --> 01:01:22,760
SO WE'RE MAKING A DIFFERENCE,

1703
01:01:22,760 --> 01:01:26,440
BUT WE HAVE A LONG WAY TO GO.

1704
01:01:26,440 --> 01:01:28,360
SO WHEN WE THINK ABOUT EQUITY,

1705
01:01:28,360 --> 01:01:32,080
AND WE THINK ABOUT EQUITY IN

1706
01:01:32,080 --> 01:01:34,960
HEALTH CARE, THIS CARTOON FROM

1707
01:01:34,960 --> 01:01:35,480
THE ROBERT WOOD JOHNSON

1708
01:01:35,480 --> 01:01:37,640
FOUNDATION I THINK DOES A NICE

1709
01:01:37,640 --> 01:01:40,960
JOB OF TALKING ABOUT AND

1710
01:01:40,960 --> 01:01:42,400
THINKING ABOUT THE EQUALITY

1711
01:01:42,400 --> 01:01:43,800
VERSUS EQUITY.

1712
01:01:43,800 --> 01:01:45,680
YOU SEE THE INDIVIDUALS ON THE

1713
01:01:45,680 --> 01:01:48,400
BIKES WITH EQUITY ARE DIFFERENT

1714
01:01:48,400 --> 01:01:49,400
BIKES, DIFFERENT ACCESS, SO WE

1715
01:01:49,400 --> 01:01:52,680
NEED TO THINK ABOUT THIS FROM

1716
01:01:52,680 --> 01:01:54,440
THE PERSPECTIVE WHAT DOES AN

1717
01:01:54,440 --> 01:01:55,720
INDIVIDUAL PATIENT NEED TO MAKE

1718
01:01:55,720 --> 01:01:58,080
SURE WE HAVE EQUITY VERSUS

1719
01:01:58,080 --> 01:01:59,320
THINKING ABOUT QUALITY TO

1720
01:01:59,320 --> 01:02:00,960
PROVIDE EVERYONE THE SAME THING.

1721
01:02:00,960 --> 01:02:03,000
OUR PANELISTS TODAY ARE GOING TO

1722
01:02:03,000 --> 01:02:04,960
EXPLORE SOME OF THESE ISSUES

1723
01:02:04,960 --> 01:02:06,960
WITH REGARDS TO EQUALITY AND

1724
01:02:06,960 --> 01:02:10,440
EQUITY WITH REGARDS TO RARE

1725
01:02:10,440 --> 01:02:11,240
DISEASES.

1726
01:02:11,240 --> 01:02:13,600
I WOULD ARGUE THIS.

1727
01:02:13,600 --> 01:02:15,240
DIVERSITY OF RESEARCH

1728
01:02:15,240 --> 01:02:17,880
PARTICIPANTS AND DIVERSITY OF

1729
01:02:17,880 --> 01:02:19,160
RESEARCH IN CLINICAL WORKFORCE

1730
01:02:19,160 --> 01:02:20,520
FOSTER HEALTH EQUITY.

1731
01:02:20,520 --> 01:02:23,680
AS WE THINK ABOUT WHERE WE GO

1732
01:02:23,680 --> 01:02:25,200
FROM HERE WITH REGARDS TO THE

1733
01:02:25,200 --> 01:02:27,640
FIELD OF RARE DISEASES, TO

1734
01:02:27,640 --> 01:02:30,440
ENHANCE EQUITY, WE MUST HAVE

1735
01:02:30,440 --> 01:02:31,760
MORE DIVERSE RESEARCH

1736
01:02:31,760 --> 01:02:32,840
PARTICIPANTS IN VARIOUS STUDIES

1737
01:02:32,840 --> 01:02:39,400
AND MUST HAVE A DIVERSE

1738
01:02:39,400 --> 01:02:40,160
WORKFORCE.

1739
01:02:40,160 --> 01:02:42,280
WITH THAT I'M JUST PLEASED TO

1740
01:02:42,280 --> 01:02:44,240
INTRODUCE OUR PANELISTS FOR

1741
01:02:44,240 --> 01:02:45,240
TODAY'S SESSION AND I WOULD LIKE

1742
01:02:45,240 --> 01:02:51,120
TO INTRODUCE ALL OF THEM AT ONE

1743
01:02:51,120 --> 01:02:52,920
TIME, YOU'LL HAVE AN OPPORTUNITY

1744
01:02:52,920 --> 01:03:03,840
TO HEAR FROM EACH.

1745
01:03:03,840 --> 01:03:05,760
XAN NOWAKOWSKI, FLORIDA STATE

1746
01:03:05,760 --> 01:03:08,480
UNIVERSITY COLLEGE OF MEDICINE.

1747
01:03:08,480 --> 01:03:11,160
MICHELE TAKEMOTO IS GENETIC

1748
01:03:11,160 --> 01:03:13,520
COUNSELOR, HAWAII DEPARTMENT OF

1749
01:03:13,520 --> 01:03:15,360
HEALTH GENETICS PROGRAM AND

1750
01:03:15,360 --> 01:03:18,080
PROJECT SPECIALIST FOR WESTERN

1751
01:03:18,080 --> 01:03:20,040
STATES REGIONAL GENETICS NETWORK

1752
01:03:20,040 --> 01:03:23,760
WHICH YOU'LL LEARN ABOUT FROM

1753
01:03:23,760 --> 01:03:24,200
MICHELE.

1754
01:03:24,200 --> 01:03:26,360
AISHA LANGFORD, DIVISION OF

1755
01:03:26,360 --> 01:03:28,320
COMPARATIVE EFFECTIVENESS AND

1756
01:03:28,320 --> 01:03:30,960
DECISION SCIENCE, DEPARTMENT OF

1757
01:03:30,960 --> 01:03:34,800
POPULATION HEALTH, NEW YORK

1758
01:03:34,800 --> 01:03:35,560
UNIVERSITY.

1759
01:03:35,560 --> 01:03:45,120
AND NICOLE KRESSIN, CO-CHAIR OF

1760
01:03:45,120 --> 01:03:50,000
DIVERSITY COMMITTEE, RDCRN.

1761
01:03:50,000 --> 01:03:51,760
AND TRACY KING, CO-CHAIR OF THE

1762
01:03:51,760 --> 01:03:54,160
COMMITTEE ON RARE DISEASE

1763
01:03:54,160 --> 01:03:56,200
CLINICAL RESEARCH, MEDICAL

1764
01:03:56,200 --> 01:04:00,160
OFFICER AND INTELLECTUAL

1765
01:04:00,160 --> 01:04:01,440
DEVELOPMENT DISABILITIES BRANCH

1766
01:04:01,440 --> 01:04:02,760
AT EUNICE KENNEDY SHRIVER

1767
01:04:02,760 --> 01:04:03,480
NATIONAL INSTITUTE OF CHILD

1768
01:04:03,480 --> 01:04:05,040
HEALTH AND HUMAN DEVELOPMENT.

1769
01:04:05,040 --> 01:04:07,960
WITH THAT WE LOOK FORWARD TO THE

1770
01:04:07,960 --> 01:04:10,880
PANEL AND THEN A CONVERSATION A

1771
01:04:10,880 --> 01:04:12,160
THE DISCUSSIONS. -- AFTER THE

1772
01:04:12,160 --> 01:04:22,240
DISCUSSIONS.

1773
01:04:22,240 --> 01:04:24,160
>> I'M DR. NOWAKOWSKI, 38 YEARS

1774
01:04:24,160 --> 01:04:26,280
OLD LIVING WITH CYSTIC FIBROSIS,

1775
01:04:26,280 --> 01:04:30,720
A RARE DISEASE THAT MAKES THE

1776
01:04:30,720 --> 01:04:31,800
MUCOUS STICKY, CAUSING DAMAGE TO

1777
01:04:31,800 --> 01:04:34,880
A WHOLE VARIETY OF ORGANS.

1778
01:04:34,880 --> 01:04:38,600
I'M ALSO A SCIENTIST, CLINICAL

1779
01:04:38,600 --> 01:04:39,920
EDUCATOR, AND A COMMUNITY

1780
01:04:39,920 --> 01:04:42,840
ADVOCATE FOR PEOPLE WITH CF AND

1781
01:04:42,840 --> 01:04:43,560
OTHER RARE DISEASES.

1782
01:04:43,560 --> 01:04:45,600
SO I'M AT THE INTERSECTION AS I

1783
01:04:45,600 --> 01:04:49,280
AM IN MANY AREAS OF MY LIFE OF

1784
01:04:49,280 --> 01:04:54,880
DIFFERENT WAYS IN WHICH SCIENCE,

1785
01:04:54,880 --> 01:04:55,960
CARE, AND COMMUNITY INTERACT.

1786
01:04:55,960 --> 01:04:57,600
THAT'S THE BEGINNING OF HOW

1787
01:04:57,600 --> 01:04:59,360
INTERSECTIONS WORK IN MY LIFE.

1788
01:04:59,360 --> 01:05:01,680
MY MESSAGE TO ALL OF YOU TODAY

1789
01:05:01,680 --> 01:05:04,720
WAS WHAT I'M GOING TO SHARE AND

1790
01:05:04,720 --> 01:05:09,280
LEADING INTO OUR NEXT SPEAKERS,

1791
01:05:09,280 --> 01:05:11,960
DIVERSITY IS ESSENTIAL.

1792
01:05:11,960 --> 01:05:13,880
IT'S ALSO THE BEGINNING.

1793
01:05:13,880 --> 01:05:17,440
DIVERSITY IS WHERE WE START.

1794
01:05:17,440 --> 01:05:20,880
AND SPECIFICALLY, DIVERSITY IS

1795
01:05:20,880 --> 01:05:25,680
WHERE WE START TO LEARN THE

1796
01:05:25,680 --> 01:05:27,640
SKILLS THAT WE PRACTICE TO DO

1797
01:05:27,640 --> 01:05:29,000
BETTER FOR ONE ANOTHER.

1798
01:05:29,000 --> 01:05:36,960
SO I WILL REPEAT AGAIN MY LAST

1799
01:05:36,960 --> 01:05:41,160
NAME IS PRONOUNED LIKE A SUPER

1800
01:05:41,160 --> 01:05:42,520
NOVA COUGHING AND SKIING.

1801
01:05:42,520 --> 01:05:44,200
MY FATHER'S FAMILY IS POLISH.

1802
01:05:44,200 --> 01:05:47,200
IT TAKES A BIT TO GET UP TO

1803
01:05:47,200 --> 01:05:50,000
SPEED ON THE PRONUNCIATION.

1804
01:05:50,000 --> 01:05:50,760
THAT'S OKAY.

1805
01:05:50,760 --> 01:05:54,360
IT'S PRACTICE THAT MAKES

1806
01:05:54,360 --> 01:05:54,600
PERFECT.

1807
01:05:54,600 --> 01:05:57,160
PRACTICE, INTENTIONAL PRACTICE

1808
01:05:57,160 --> 01:06:01,120
THAT ENABLES US TO PRACTICE

1809
01:06:01,120 --> 01:06:02,600
JUSTICE IN SCIENCE.

1810
01:06:02,600 --> 01:06:04,200
WE STARTED PLANNING FOR THIS

1811
01:06:04,200 --> 01:06:06,280
SESSION SPECIFICALLY AROUND THE

1812
01:06:06,280 --> 01:06:07,400
IDEA OF INCLUSION AND

1813
01:06:07,400 --> 01:06:08,600
AFFIRMATION IN CLINICAL TRIALS.

1814
01:06:08,600 --> 01:06:10,560
I ACTUALLY JUST GAVE A TALK FOR

1815
01:06:10,560 --> 01:06:13,840
NATIONAL JEWISH HEALTH A COUPLE

1816
01:06:13,840 --> 01:06:15,800
WEEKS AGO FOCUSING SPECIFICALLY

1817
01:06:15,800 --> 01:06:18,080
ON BARRIERS TO CLINICAL TRIAL

1818
01:06:18,080 --> 01:06:19,160
PARTICIPATION FOR PEOPLE WITH

1819
01:06:19,160 --> 01:06:21,480
CYSTIC FIBROSIS PART OF THE

1820
01:06:21,480 --> 01:06:27,160
QUEER, TRANS, AND OTHER INTERSEX

1821
01:06:27,160 --> 01:06:27,480
COMMUNITIES.

1822
01:06:27,480 --> 01:06:29,480
I'LL TALK ABOUT MY BACKGROUNDS

1823
01:06:29,480 --> 01:06:31,200
AS RELATED TO THOSE ASPECTS OF

1824
01:06:31,200 --> 01:06:31,880
LIVED EXPERIENCE AND OTHER

1825
01:06:31,880 --> 01:06:33,720
THINGS THAT MAKE ME A LITTLE BIT

1826
01:06:33,720 --> 01:06:35,640
UNIQUE AS A PERSON LIVING WITH

1827
01:06:35,640 --> 01:06:38,120
CF AND THAT GIVE ME UNIQUE

1828
01:06:38,120 --> 01:06:41,280
THINGS TO SHARE IN THE EDUCATION

1829
01:06:41,280 --> 01:06:43,600
AND UNIQUE THINGS TO ASK ABOUT

1830
01:06:43,600 --> 01:06:47,400
IN RESEARCH THAT I DO.

1831
01:06:47,400 --> 01:06:54,080
I AM OPENEDLY AND PROUD

1832
01:06:54,080 --> 01:06:56,640
BISEXUAL, AGENDER, IN THE QUEER

1833
01:06:56,640 --> 01:06:57,920
AND TRANS COMMUNITY, ENDOSEX.

1834
01:06:57,920 --> 01:07:01,640
I'M VERY PROUD TO HAVE HIRED OUR

1835
01:07:01,640 --> 01:07:03,080
FIRST OPENLY INTERSEX STAFF

1836
01:07:03,080 --> 01:07:04,720
MEMBER AT FSU COLLEGE OF

1837
01:07:04,720 --> 01:07:07,440
MEDICINE, IF THAT'S A NEW TERM

1838
01:07:07,440 --> 01:07:09,880
THAT MEANS WHEN YOUR SEX

1839
01:07:09,880 --> 01:07:11,280
ASSIGNMENT AT BIRTH DOESN'T

1840
01:07:11,280 --> 01:07:12,880
MATCH YOUR TRUE SEX.

1841
01:07:12,880 --> 01:07:15,960
PEOPLE WHO ARE INTERSEX MAY HAVE

1842
01:07:15,960 --> 01:07:19,680
MIXED SEX CHARACTERISTICS ON

1843
01:07:19,680 --> 01:07:21,400
ANATOMY, GENETICS, HORMONES, A

1844
01:07:21,400 --> 01:07:22,520
VARIETY OF OTHER FEATURES.

1845
01:07:22,520 --> 01:07:24,400
OF COURSE, NO TWO INTERSEX

1846
01:07:24,400 --> 01:07:25,920
PEOPLE ARE ALIKE.

1847
01:07:25,920 --> 01:07:27,560
SO THAT DIVERSITY ANGLE REALLY

1848
01:07:27,560 --> 01:07:31,440
COMES INTO PLAY BECAUSE WHEN WE

1849
01:07:31,440 --> 01:07:34,320
INCLUDE PEOPLE OF DIVERSE LIVED

1850
01:07:34,320 --> 01:07:36,680
EXPERIENCES WITH A PARTICULAR

1851
01:07:36,680 --> 01:07:38,600
SOCIAL LOCATION, HEALTH STATE,

1852
01:07:38,600 --> 01:07:40,480
OR ANYTHING ELSE, WE START TO

1853
01:07:40,480 --> 01:07:42,080
LEARN NUANCE.

1854
01:07:42,080 --> 01:07:45,560
WE START TO SEE THE SHADES OF

1855
01:07:45,560 --> 01:07:47,680
ALL THE DIFFERENT WAYS THAT WHAT

1856
01:07:47,680 --> 01:07:52,800
WOULD BE CALLED A MONOLITHTIC 

1857
01:07:52,800 --> 01:07:55,200
IDENTITY OR MASTER STATUS CAN

1858
01:07:55,200 --> 01:07:56,520
REALLY PRECISELY SHAPE OUR

1859
01:07:56,520 --> 01:07:58,560
UNIQUE EXPERIENCE OF SOMETHING

1860
01:07:58,560 --> 01:08:00,480
IN OUR HEALTH CARE OR RESEARCH

1861
01:08:00,480 --> 01:08:00,840
PARTICIPATION.

1862
01:08:00,840 --> 01:08:02,440
SO I ALWAYS LIKE TO SAY IF YOU

1863
01:08:02,440 --> 01:08:04,080
MET ONE PERSON WITH CF, YOU MET

1864
01:08:04,080 --> 01:08:04,920
ONE OF US.

1865
01:08:04,920 --> 01:08:07,080
EACH OF US HAVE DIFFERENT

1866
01:08:07,080 --> 01:08:09,200
CHARACTERISTICS THAT MAKE US

1867
01:08:09,200 --> 01:08:10,920
UNIQUE AS PATIENTS, WHETHER

1868
01:08:10,920 --> 01:08:12,280
SEX/GENDER AND SEXUALITY,

1869
01:08:12,280 --> 01:08:15,080
SPECIFIC GENETICS, I'M A BIT OF

1870
01:08:15,080 --> 01:08:16,680
A UNICORN IN THAT CATEGORY

1871
01:08:16,680 --> 01:08:20,960
BECAUSE  AS FAR AS WE KNOW I'M

1872
01:08:20,960 --> 01:08:22,440
THE ONLY ONE IN THE UNITED

1873
01:08:22,440 --> 01:08:24,280
STATES WITH MY SPECIFIC

1874
01:08:24,280 --> 01:08:25,600
GENOTYPE.

1875
01:08:25,600 --> 01:08:28,320
IF YOU KNOW ABOUT CF GENETICS,

1876
01:08:28,320 --> 01:08:30,520
THE NOT UNUSUAL.

1877
01:08:30,520 --> 01:08:32,840
I'LL DESCRIBE MYSELF.

1878
01:08:32,840 --> 01:08:38,520
I'M A VERY THIN QUITE LIGHT 

1879
01:08:38,520 --> 01:08:41,760
SKINNED RACIALLY WHITE PERSON

1880
01:08:41,760 --> 01:08:43,000
WITH LONG -- DARK STRAWBERRY

1881
01:08:43,000 --> 01:08:44,760
BLONDE CURLY HAIR, DARK GREEN

1882
01:08:44,760 --> 01:08:46,360
EYES, BLACK EYE LINER, MISSING

1883
01:08:46,360 --> 01:08:48,840
ONE OF MY TWO FRONT TEETH, I'M

1884
01:08:48,840 --> 01:08:50,400
MISSING PRETTY MUCH ALL MY TEETH

1885
01:08:50,400 --> 01:08:52,600
BUT I DON'T HAVE A PROSTHETIC IN

1886
01:08:52,600 --> 01:08:54,040
THE FRONT LEFT POSITION RIGHT

1887
01:08:54,040 --> 01:08:54,320
NOW.

1888
01:08:54,320 --> 01:08:56,800
I HAVE TWO RINGS IN MY RIGHT

1889
01:08:56,800 --> 01:08:58,200
NOSTRIL.

1890
01:08:58,200 --> 01:09:02,800
WEARING A BLACK BLAZER WITH

1891
01:09:02,800 --> 01:09:05,520
THEY, THEM PRONOUN PIN, BLACK

1892
01:09:05,520 --> 01:09:06,480
SHEATH DRESS, LARGE PROMINENT

1893
01:09:06,480 --> 01:09:07,200
CHEEK BONES.

1894
01:09:07,200 --> 01:09:09,920
YOU NOTICE I SAID I'M RACIALLY

1895
01:09:09,920 --> 01:09:10,280
WHITE.

1896
01:09:10,280 --> 01:09:18,040
I HAVE MULTI-RACIAL LINEAGE IT'S

1897
01:09:18,040 --> 01:09:20,760
HALF AND HALF INDIGENOUS

1898
01:09:20,760 --> 01:09:23,600
AMERICAN, EUROPEAN AMERICA.

1899
01:09:23,600 --> 01:09:28,720
THE SPERM DONOR WAS MULTI-ETHNIC

1900
01:09:28,720 --> 01:09:30,440
NATCHEZ CREEK, EGYPTIAN,

1901
01:09:30,440 --> 01:09:33,080
SICILIAN HERITAGE, SOME AFRICAN

1902
01:09:33,080 --> 01:09:35,280
AMERICAN DESCENDANT OF SLAVE

1903
01:09:35,280 --> 01:09:36,040
ANCESTORS, MY MOTHER'S FAMILY

1904
01:09:36,040 --> 01:09:39,160
WHO I'M RELATED TO BOTH SOCIALLY

1905
01:09:39,160 --> 01:09:41,200
AND BY BLOOD ARE GERMANY AND

1906
01:09:41,200 --> 01:09:47,360
DANISH ON HER MOTHER'S SIDE, AND

1907
01:09:47,360 --> 01:09:51,520
TUSCARORA AND SCOTT, AND MY

1908
01:09:51,520 --> 01:09:55,080
FATHER'S FAMILY, WEST SLAVIC,

1909
01:09:55,080 --> 01:10:07,480
100% ETHNIC CATHOLIC POLISH.

1910
01:10:07,480 --> 01:10:09,240
I'M MULTI-ETHNIC WITH RARE

1911
01:10:09,240 --> 01:10:11,480
GENETIC MUTATIONS, NOT ELIGIBLE

1912
01:10:11,480 --> 01:10:13,160
FOR NEXT GEN DRUGS, PROTEIN

1913
01:10:13,160 --> 01:10:14,560
MODULATORS THAT ARE SUPPOSED TO

1914
01:10:14,560 --> 01:10:17,280
HELP 90% OF THE FULL CF

1915
01:10:17,280 --> 01:10:17,760
COMMUNITY.

1916
01:10:17,760 --> 01:10:19,840
WELL, THERE IS NO MODULATOR FOR

1917
01:10:19,840 --> 01:10:20,280
ME.

1918
01:10:20,280 --> 01:10:21,480
THERE ARE OTHER THINGS COMING

1919
01:10:21,480 --> 01:10:22,960
INTO THE PIPELINE FOR ME.

1920
01:10:22,960 --> 01:10:26,480
FOR MY PEER WHO IS ARE IN WHAT

1921
01:10:26,480 --> 01:10:35,360
WE CALL THE 10% COMMUNITY, I'M

1922
01:10:35,360 --> 01:10:37,560
NEURODIVERGENT, SURVIVOR OF

1923
01:10:37,560 --> 01:10:38,440
INTIMATE PARTNER VIOLENCE,

1924
01:10:38,440 --> 01:10:38,760
SEXUAL ABUSE.

1925
01:10:38,760 --> 01:10:40,880
SO I HAVE A VARIETY OF FEATURES

1926
01:10:40,880 --> 01:10:43,120
THAT MAKE ME A LITTLE BIT

1927
01:10:43,120 --> 01:10:46,280
UNIQUE, THAT ALLOW ME TO

1928
01:10:46,280 --> 01:10:48,720
IDENTIFY PARTICULAR BARRIERS TO

1929
01:10:48,720 --> 01:10:49,440
INCLUSION AFFIRMATION AND

1930
01:10:49,440 --> 01:10:51,480
JUSTICE FOR PEOPLE WITH C F AND

1931
01:10:51,480 --> 01:10:53,040
PEOPLE WITH RARE DISEASES IN

1932
01:10:53,040 --> 01:10:54,760
GENERAL WHO ARE PARTICIPATING IN

1933
01:10:54,760 --> 01:10:55,880
RESEARCH, SO MY TAKEAWAY FOR ALL

1934
01:10:55,880 --> 01:10:58,880
OF YOU BEFORE WE GO TO OUR NEXT

1935
01:10:58,880 --> 01:11:01,000
SPEAKER IS THAT IF YOU WANT TO

1936
01:11:01,000 --> 01:11:03,520
GET A GOOD UNDERSTANDING OF HOW

1937
01:11:03,520 --> 01:11:06,560
TO MAKE RESEARCH ACCESSIBLE AND

1938
01:11:06,560 --> 01:11:08,680
REWARDING, FOR PEOPLE WITH RARE

1939
01:11:08,680 --> 01:11:11,800
DISEASES, THE DIVERSITY ANGLE

1940
01:11:11,800 --> 01:11:13,680
THAT DR. BONHAM SPOTLIGHTED IS

1941
01:11:13,680 --> 01:11:15,440
IMPORTANT BUT THAT'S WHERE YOU

1942
01:11:15,440 --> 01:11:15,640
START.

1943
01:11:15,640 --> 01:11:17,400
YOU MUST NOT ONLY BRING US TO

1944
01:11:17,400 --> 01:11:20,080
THE TABLE BUT ENGAGE US ROBUSTLY

1945
01:11:20,080 --> 01:11:24,600
AT EVERY STAGE, IN THE PLANNING,

1946
01:11:24,600 --> 01:11:26,040
IMPLEMENTATION, AND ANALYSIS OF

1947
01:11:26,040 --> 01:11:28,080
RESEARCH AND YOU MUST ENGAGE A

1948
01:11:28,080 --> 01:11:30,400
DIVERSE GROUP OF US ROBUSTLY

1949
01:11:30,400 --> 01:11:34,120
BECAUSE IF YOU HAVE MET ONE OF

1950
01:11:34,120 --> 01:11:48,240
US, YOU HAVE MET ONE OF US. 

1951
01:11:48,240 --> 01:11:50,760
>> I'M MICHELE TAKEMOTO, MY

1952
01:11:50,760 --> 01:11:56,760
PRONOUNS ARE SHE, HER. 

1953
01:11:56,760 --> 01:11:57,680
GENETIC COUNSELOR WITH THE

1954
01:11:57,680 --> 01:12:00,280
HAWAII DEPARTMENT OF HEALTH.

1955
01:12:00,280 --> 01:12:01,320
A LITTLE BACKGROUND ABOUT THE

1956
01:12:01,320 --> 01:12:03,880
PROGRAMS THAT I WORK FOR, LAYERS

1957
01:12:03,880 --> 01:12:06,200
OF PROGRAMS, I'M A GENETIC

1958
01:12:06,200 --> 01:12:07,640
COUNSELOR WITH THE HAWAII

1959
01:12:07,640 --> 01:12:10,960
DEPARTMENT OF HEALTH, AND THE

1960
01:12:10,960 --> 01:12:13,480
HAWAII DEPARTMENT OF HEALTH

1961
01:12:13,480 --> 01:12:15,480
GENETICS PROGRAM SERVES AS THE

1962
01:12:15,480 --> 01:12:17,320
LEAD ORGANIZATION FOR THE

1963
01:12:17,320 --> 01:12:22,440
WESTERN STATES REGIONAL GENETICS

1964
01:12:22,440 --> 01:12:23,440
NETWORK.

1965
01:12:23,440 --> 01:12:25,480
THERE ARE SEVEN NETWORKS ACROSS

1966
01:12:25,480 --> 01:12:26,400
THE COUNTRY, AND WE'RE LOCATED

1967
01:12:26,400 --> 01:12:30,000
OVER HERE ON THE WEST COAST.

1968
01:12:30,000 --> 01:12:32,080
AND EACH REGIONAL GENETICS

1969
01:12:32,080 --> 01:12:34,680
NETWORKS IS TASKED WITH

1970
01:12:34,680 --> 01:12:38,680
INCREASING ACCESS TO GENETIC

1971
01:12:38,680 --> 01:12:40,200
SERVICES TO UNDERSERVED

1972
01:12:40,200 --> 01:12:40,480
POPULATIONS.

1973
01:12:40,480 --> 01:12:43,360
ONE OF OUR PROJECTS AS THE

1974
01:12:43,360 --> 01:12:46,160
WESTERN STATES REGIONAL GENETICS

1975
01:12:46,160 --> 01:12:47,800
NETWORK IS MINORITY GENETIC

1976
01:12:47,800 --> 01:12:52,840
PROFESSIONALS NETWORK, LOTS OF

1977
01:12:52,840 --> 01:13:00,600
NETWORKS. 

1978
01:13:00,600 --> 01:13:01,360
THE GENETIC COUNSELING

1979
01:13:01,360 --> 01:13:03,760
PROFESSION HAS BEEN AROUND 50

1980
01:13:03,760 --> 01:13:05,800
YEARS, 90% WHITE AND FEMALE, FOR

1981
01:13:05,800 --> 01:13:07,720
MOST OF THAT TIME.

1982
01:13:07,720 --> 01:13:10,320
SO THE LACK OF DIVERSITY

1983
01:13:10,320 --> 01:13:22,360
PRESENTS A BARRIER TO SERVICES 

1984
01:13:22,360 --> 01:13:23,040
FOR MINORATIZED COMMUNITIES,

1985
01:13:23,040 --> 01:13:26,560
AFFECTS QUALITY AT THE LEVEL OF

1986
01:13:26,560 --> 01:13:28,080
CULTURAL COMPETENCE, HUMILITY,

1987
01:13:28,080 --> 01:13:35,480
CAN BE PROBLEMATIC WITHIN THE

1988
01:13:35,480 --> 01:13:35,800
FIELD.

1989
01:13:35,800 --> 01:13:37,320
ANOTHER ASPECT OF OUR WORK WITH

1990
01:13:37,320 --> 01:13:38,960
WESTERN STATES REGION THAT MAY

1991
01:13:38,960 --> 01:13:42,440
BE OF INTEREST TO OUR AUDIENCE,

1992
01:13:42,440 --> 01:13:46,480
WE WORK WITH FAMILY ADVOCACY

1993
01:13:46,480 --> 01:13:46,800
ORGANIZATIONS.

1994
01:13:46,800 --> 01:13:48,240
THERE'S SPECIFIC CATEGORIES,

1995
01:13:48,240 --> 01:13:50,320
PARENT TRAINING AND INFORMATION

1996
01:13:50,320 --> 01:13:53,680
CENTERS, FAMILY 2 FAMILY HEALTH

1997
01:13:53,680 --> 01:13:54,880
INFORMATION CENTERS, FAMILY

1998
01:13:54,880 --> 01:13:57,440
VOICES, AND ALL OF THESE

1999
01:13:57,440 --> 01:13:59,600
ORGANIZATIONS, THEY ARE NOT LIKE

2000
01:13:59,600 --> 01:14:02,880
THE RARE DISEASE COMMUNITY WHERE

2001
01:14:02,880 --> 01:14:06,280
THEY FOCUS ON SPECIFIC DISEASES,

2002
01:14:06,280 --> 01:14:07,560
SPECIFIC CONDITIONS.

2003
01:14:07,560 --> 01:14:09,440
THEY ARE AVAILABLE TO ALL

2004
01:14:09,440 --> 01:14:11,960
FAMILIES WITH CHILDREN WITH

2005
01:14:11,960 --> 01:14:13,160
SPECIAL HEALTH NEEDS, SPECIAL --

2006
01:14:13,160 --> 01:14:15,800
A LOT OF THOSE ARE GENETIC

2007
01:14:15,800 --> 01:14:19,200
CONDITIONS, BUT SOME ARE NOT.

2008
01:14:19,200 --> 01:14:22,160
AND THESE ORGANIZATIONS ARE MADE

2009
01:14:22,160 --> 01:14:24,320
UP OF PARENTS OF CHILDREN WITH

2010
01:14:24,320 --> 01:14:25,080
SPECIAL HEALTH NEEDS, AND SO

2011
01:14:25,080 --> 01:14:28,160
THEY ARE THE PEOPLE ACTUALLY

2012
01:14:28,160 --> 01:14:29,120
RUNNING THESE ORGANIZATIONS.

2013
01:14:29,120 --> 01:14:32,440
AND THEY HELP TO TRAIN OTHER

2014
01:14:32,440 --> 01:14:34,000
PARENTS IN BEING ADVOCATES

2015
01:14:34,000 --> 01:14:34,840
THEMSELVES, IF THEY ARE

2016
01:14:34,840 --> 01:14:38,120
INTERESTED IN GOING DOWN THAT

2017
01:14:38,120 --> 01:14:38,440
PATH.

2018
01:14:38,440 --> 01:14:42,240
AND THEY HELP PARENTS AND

2019
01:14:42,240 --> 01:14:44,160
FAMILIES NAVIGATE LEGAL SYSTEMS,

2020
01:14:44,160 --> 01:14:46,400
EDUCATIONAL SYSTEMS, HEALTH CARE

2021
01:14:46,400 --> 01:14:48,600
SYSTEMS, TO MAKE SURE THAT THEIR

2022
01:14:48,600 --> 01:14:51,240
CHILDREN AND THEIR FAMILIES AS A

2023
01:14:51,240 --> 01:14:53,080
WHOLE ARE GETTING THE SERVICES

2024
01:14:53,080 --> 01:14:55,680
THAT THEY NEED, THE SERVICES

2025
01:14:55,680 --> 01:14:58,240
THAT THEY ARE LEGALLY ENTITLED

2026
01:14:58,240 --> 01:15:02,920
TO, AND MAKING SURE THAT THEIR

2027
01:15:02,920 --> 01:15:04,440
CHILDREN ARE GETTING OPTIMAL

2028
01:15:04,440 --> 01:15:06,680
HEALTH CARE, WHICH CAN INVOLVE

2029
01:15:06,680 --> 01:15:07,360
INTERACTING WITH GENETIC

2030
01:15:07,360 --> 01:15:09,600
SERVICES.

2031
01:15:09,600 --> 01:15:11,760
 

2032
01:15:11,760 --> 01:15:16,480
SO, THERE ARE MULTIPLE LAYERS OF

2033
01:15:16,480 --> 01:15:19,200
CHALLENGES TO ACCESSING GENETIC

2034
01:15:19,200 --> 01:15:22,240
SERVICES, ESPECIALLY FOR

2035
01:15:22,240 --> 01:15:24,480
FAMILIES WHO COME FROM RACIAL

2036
01:15:24,480 --> 01:15:26,080
AND ETHNIC MINORITY BACKGROUNDS.

2037
01:15:26,080 --> 01:15:31,680
SOME OF THIS CAN HAVE TO DO WITH

2038
01:15:31,680 --> 01:15:34,080
GENERATIONS OF IMMIGRATION,

2039
01:15:34,080 --> 01:15:36,240
LANGUAGE CHALLENGES, AND A

2040
01:15:36,240 --> 01:15:39,200
GENERAL LACK OF FAMILIARITY WITH

2041
01:15:39,200 --> 01:15:40,400
GENETIC SERVICES.

2042
01:15:40,400 --> 01:15:42,920
THE LACK OF FAMILIARITY WITH

2043
01:15:42,920 --> 01:15:44,440
GENETIC SERVICES IS ACTUALLY

2044
01:15:44,440 --> 01:15:50,240
SOMETHING THAT IS -- THAT CUTS

2045
01:15:50,240 --> 01:15:53,200
ACROSS ALSO ECONOMIC 

2046
01:15:53,200 --> 01:15:54,400
BACKGROUNDS, RACIAL AND ETHNIC

2047
01:15:54,400 --> 01:15:54,680
BACKGROUNDS.

2048
01:15:54,680 --> 01:15:56,880
MOST PEOPLE DON'T KNOW WHAT A

2049
01:15:56,880 --> 01:15:58,000
GENETIC COUNSELOR IS.

2050
01:15:58,000 --> 01:16:00,400
AND THE MENTION OF GENETIC

2051
01:16:00,400 --> 01:16:02,600
TESTING CAN BE ANXIETY

2052
01:16:02,600 --> 01:16:03,120
PROVOKING.

2053
01:16:03,120 --> 01:16:04,760
FOR SOME FAMILIES THERE CAN BE

2054
01:16:04,760 --> 01:16:06,520
CONCERNS ABOUT FEELINGS OF GUILT

2055
01:16:06,520 --> 01:16:08,040
IF THEY KNOW THAT A CONDITION IS

2056
01:16:08,040 --> 01:16:10,080
RUNNING IN THE FAMILY AND THEY

2057
01:16:10,080 --> 01:16:12,000
ARE CONCERNED THAT THEY HAVE

2058
01:16:12,000 --> 01:16:16,120
HARMED THEIR CHILD WITH THEIR

2059
01:16:16,120 --> 01:16:16,640
GENETICS.

2060
01:16:16,640 --> 01:16:18,080
WE TRY TO EMPHASIZE WE DON'T

2061
01:16:18,080 --> 01:16:20,920
CONTROL WHAT WE INHERIT OR WHAT

2062
01:16:20,920 --> 01:16:22,360
WE PASS ON.

2063
01:16:22,360 --> 01:16:25,560
THERE CAN ALSO BE CONCERNS ABOUT

2064
01:16:25,560 --> 01:16:26,880
THE COST OF GENETIC TESTING.

2065
01:16:26,880 --> 01:16:28,480
MOST PEOPLE HAVE THE IMPRESSION

2066
01:16:28,480 --> 01:16:30,440
THAT IT COSTS THOUSANDS AND

2067
01:16:30,440 --> 01:16:31,640
THOUSANDS OF DOLLARS AND THAT

2068
01:16:31,640 --> 01:16:34,720
INSURANCE DOESN'T COVER IT.

2069
01:16:34,720 --> 01:16:36,080
WHEREAS IN MANY CASES NOW

2070
01:16:36,080 --> 01:16:38,600
INSURANCE DOES COVER IT.

2071
01:16:38,600 --> 01:16:40,680
AND THE OUT-OF-POCKET COSTS CAN

2072
01:16:40,680 --> 01:16:41,640
BE VERY LOW.

2073
01:16:41,640 --> 01:16:43,280
AND THERE ARE PROGRAMS THAT

2074
01:16:43,280 --> 01:16:45,680
ACTUALLY HELP PAY FOR GENETIC

2075
01:16:45,680 --> 01:16:49,240
TESTING SO COST CAN BE ZERO.

2076
01:16:49,240 --> 01:16:51,560
THERE CAN BE ISSUES WITH

2077
01:16:51,560 --> 01:16:52,520
TRANSPORTATION, WHICH IS

2078
01:16:52,520 --> 01:16:55,400
SOMETHING THAT TO SOME DEGREE

2079
01:16:55,400 --> 01:17:02,120
THE PANDEMIC HAS SOLVE AS

2080
01:17:02,120 --> 01:17:03,480
TELEHEALTH HAS BECOME MORE

2081
01:17:03,480 --> 01:17:05,880
PREVALENT BUT THERE CAN BE A

2082
01:17:05,880 --> 01:17:08,080
LACK OF INTERNET ACCESS OR A

2083
01:17:08,080 --> 01:17:09,240
LACK OF DEVICES, PERIOD, FOR

2084
01:17:09,240 --> 01:17:12,680
SOMEBODY WITH A FLIP PHONE, THEY

2085
01:17:12,680 --> 01:17:14,840
CAN'T ACCESS TELEHEALTH AT ALL.

2086
01:17:14,840 --> 01:17:20,400
HERE IN HAWAII WE HAVE A LOT OF 

2087
01:17:20,400 --> 01:17:21,080
TELEHEALTH INTERACTIONS WITH

2088
01:17:21,080 --> 01:17:22,120
FAMILIES ON THE NEIGHBOR ISLANDS

2089
01:17:22,120 --> 01:17:25,120
ON THE SIDE OF A ROAD IN A

2090
01:17:25,120 --> 01:17:27,480
MINIVAN TRYING TO GET WI-FI OFF

2091
01:17:27,480 --> 01:17:29,480
A NEARBY BUSINESS.

2092
01:17:29,480 --> 01:17:33,040
SO, THERE ARE ALL SORTS OF

2093
01:17:33,040 --> 01:17:34,840
LOGISTICAL BARRIERS AND

2094
01:17:34,840 --> 01:17:36,000
EMOTIONAL BARRIERS, LANGUAGE

2095
01:17:36,000 --> 01:17:36,640
BARRIERS.

2096
01:17:36,640 --> 01:17:42,080
I DIDN'T MENTION LANGUAGE THERE.

2097
01:17:42,080 --> 01:17:49,600
HOWEVER, IT'S ALSO IMPORTANT NOT

2098
01:17:49,600 --> 01:17:51,040
TO PIGEONHOLE AND STEREOTYPE

2099
01:17:51,040 --> 01:17:52,560
FAMILIES WITH LACK OF

2100
01:17:52,560 --> 01:17:54,240
UNDERSTANDING ABOUT GENETIC

2101
01:17:54,240 --> 01:17:56,320
TESTING AND GENETIC SERVICES.

2102
01:17:56,320 --> 01:17:57,920
SO, SWITCHING OVER TO THE

2103
01:17:57,920 --> 01:18:01,160
CHALLENGES ON THE PROVIDER SIDE,

2104
01:18:01,160 --> 01:18:02,640
THERE ARE VERY OFTEN ASSUMPTIONS

2105
01:18:02,640 --> 01:18:05,320
THAT CERTAIN COMMUNITIES THAT

2106
01:18:05,320 --> 01:18:06,520
PEOPLE FROM CERTAIN COMMUNITIES

2107
01:18:06,520 --> 01:18:09,920
JUST ARE NOT INTERESTED IN

2108
01:18:09,920 --> 01:18:10,280
GENETIC TESTING.

2109
01:18:10,280 --> 01:18:12,320
AND SO THERE'S ALMOST NO POINT

2110
01:18:12,320 --> 01:18:13,200
IN THEIR COMING TO THE

2111
01:18:13,200 --> 01:18:15,680
APPOINTMENT BECAUSE THEY ARE NOT

2112
01:18:15,680 --> 01:18:20,000
GOING TO -- THERE'S NO UPTAKE OF

2113
01:18:20,000 --> 01:18:22,160
GENETIC SERVICES ANYWAY.

2114
01:18:22,160 --> 01:18:25,880
AND AGAIN WITH DIFFERENT

2115
01:18:25,880 --> 01:18:27,200
GENERATIONS OF IMMIGRATION,

2116
01:18:27,200 --> 01:18:28,720
THOSE ASSUMPTIONS BECOME LESS

2117
01:18:28,720 --> 01:18:31,880
AND LESS TRUE, AS PEOPLE FROM

2118
01:18:31,880 --> 01:18:32,880
DIFFERENT IMMIGRANT COMMUNITIES

2119
01:18:32,880 --> 01:18:36,680
ARE HERE IN THE U.S. OVER MORE

2120
01:18:36,680 --> 01:18:37,000
GENERATIONS.

2121
01:18:37,000 --> 01:18:39,080
AND THERE CAN ALSO BE

2122
01:18:39,080 --> 01:18:40,400
ASSUMPTIONS THAT PEOPLE WITH

2123
01:18:40,400 --> 01:18:44,120
LACK OF EDUCATION AND LACK OF

2124
01:18:44,120 --> 01:18:46,080
WESTERN EDUCATION WON'T

2125
01:18:46,080 --> 01:18:47,320
UNDERSTAND THE EXPLANATIONS

2126
01:18:47,320 --> 01:18:48,680
ABOUT GENETIC TESTING, WHEN IT'S

2127
01:18:48,680 --> 01:18:51,720
REALLY ON THE PROVIDERS TO MAKE

2128
01:18:51,720 --> 01:18:53,640
SURE THAT THEY EXPLAIN THINGS IN

2129
01:18:53,640 --> 01:18:56,480
AN APPROPRIATE MANNER SO THE

2130
01:18:56,480 --> 01:18:58,280
PATIENTS CAN UNDERSTAND, AND

2131
01:18:58,280 --> 01:18:59,640
LACK OF EDUCATION IS NOT

2132
01:18:59,640 --> 01:19:01,040
EQUIVALENT TO LACK OF

2133
01:19:01,040 --> 01:19:01,840
INTELLIGENCE.

2134
01:19:01,840 --> 01:19:04,000
THERE CAN ALSO BE ASSUMPTIONS

2135
01:19:04,000 --> 01:19:07,520
THAT ON THE PROVIDER'S SIDE THAT

2136
01:19:07,520 --> 01:19:08,640
INSURANCE WON'T COVER TESTING.

2137
01:19:08,640 --> 01:19:12,720
AND THAT IS NOT ALWAYS THE CASE.

2138
01:19:12,720 --> 01:19:14,080
AND PEOPLE HAVE DIFFERENT

2139
01:19:14,080 --> 01:19:14,680
INSURANCE PLANS.

2140
01:19:14,680 --> 01:19:17,760
AND SO IF IT'S A PLAN THAT A

2141
01:19:17,760 --> 01:19:24,000
PROVIDER'S NOT FAMILIAR WITH,

2142
01:19:24,000 --> 01:19:26,160
(INDISCERNIBLE) AND ALSO WITH

2143
01:19:26,160 --> 01:19:29,040
INSURANCE THERE CAN BE ISSUES

2144
01:19:29,040 --> 01:19:30,320
WITH IMPLICIT BIAS, WHERE A

2145
01:19:30,320 --> 01:19:34,480
PROVIDER MAY NOT GO TO BAT WITH

2146
01:19:34,480 --> 01:19:36,080
AN INSURANCE COMPANY, AS MUCH

2147
01:19:36,080 --> 01:19:40,040
FOR SOMEBODY FROM ONE COMMUNITY

2148
01:19:40,040 --> 01:19:42,360
VERSUS OVER ANOTHER.

2149
01:19:42,360 --> 01:19:44,280
OR EXPLORING WITH THE GENETIC

2150
01:19:44,280 --> 01:19:46,560
TESTING LABS VERY OFTEN THERE

2151
01:19:46,560 --> 01:19:48,200
CAN BE PROGRAMS TO DISCOUNT OR

2152
01:19:48,200 --> 01:19:53,880
COVER THE COST OF TESTING

2153
01:19:53,880 --> 01:19:54,240
ENTIRELY.

2154
01:19:54,240 --> 01:19:56,880
AND PROVIDERS MAY HAVE A

2155
01:19:56,880 --> 01:19:58,400
PREFERENCE FOR PATIENTS FROM

2156
01:19:58,400 --> 01:19:59,800
DIFFERENT COMMUNITIES AND MAY

2157
01:19:59,800 --> 01:20:01,520
PUSH HARDER FOR PATIENTS FROM

2158
01:20:01,520 --> 01:20:02,880
DIFFERENT COMMUNITIES OR NOT

2159
01:20:02,880 --> 01:20:03,840
PUSH AS HARD.

2160
01:20:03,840 --> 01:20:07,040
AND SO THOSE SORTS OF ISSUES

2161
01:20:07,040 --> 01:20:10,280
WHICH CAN BE SUBTLE OR OBVIOUS

2162
01:20:10,280 --> 01:20:12,680
CAN BE ISSUES ON THE PROVIDER,

2163
01:20:12,680 --> 01:20:13,920
CLINICIAN SIDE OF THINGS, AND

2164
01:20:13,920 --> 01:20:16,960
THAT'S ONE OF THE REASONS WHY

2165
01:20:16,960 --> 01:20:20,160
MGPN IS WORKING VERY HARD TO

2166
01:20:20,160 --> 01:20:22,160
HELP INCREASE THE DIVERSITY IN

2167
01:20:22,160 --> 01:20:22,520
THE PROFESSION.

2168
01:20:22,520 --> 01:20:25,280
SO AS WE AS PROVIDERS LEARN FROM

2169
01:20:25,280 --> 01:20:27,240
EACH OTHER, THROUGH TRAINING AND

2170
01:20:27,240 --> 01:20:29,680
THROUGH WORKING TOGETHER IN

2171
01:20:29,680 --> 01:20:31,280
CLINIC, SOME OF THESE

2172
01:20:31,280 --> 01:20:34,880
ASSUMPTIONS AND BIASES HOPEFULLY

2173
01:20:34,880 --> 01:20:36,680
CAN BE REDUCED.

2174
01:20:36,680 --> 01:20:39,320
ON THE MEDICAL SCIENTIFIC SIDE

2175
01:20:39,320 --> 01:20:42,680
OF THINGS, THERE IS THE ISSUE OF

2176
01:20:42,680 --> 01:20:47,680
VARIANTS OF UNKNOWN SIGNIFICANCE

2177
01:20:47,680 --> 01:20:49,280
OR UNCERTAIN SIGNIFICANCE, WHERE

2178
01:20:49,280 --> 01:20:53,320
THERE ARE NOT AS MANY RESEARCH

2179
01:20:53,320 --> 01:20:55,720
SUBJECTS IN GENETIC RESEARCH,

2180
01:20:55,720 --> 01:20:57,240
WHO ARE NOT OF EUROPEAN

2181
01:20:57,240 --> 01:20:59,040
BACKGROUND OF THE MOST RESEARCH

2182
01:20:59,040 --> 01:21:00,520
SUBJECTS ARE OF EUROPEAN

2183
01:21:00,520 --> 01:21:03,080
BACKGROUND, AND SO GENETIC

2184
01:21:03,080 --> 01:21:08,200
VARIANTS THAT ARE NOT FOUND IN

2185
01:21:08,200 --> 01:21:09,640
EUROPEAN POPULATIONS, LESS IS

2186
01:21:09,640 --> 01:21:10,040
KNOWN.

2187
01:21:10,040 --> 01:21:12,800
SO THE RESULTS ON GENETIC

2188
01:21:12,800 --> 01:21:14,240
TESTING DOWNSTREAM FROM THE

2189
01:21:14,240 --> 01:21:17,480
RESEARCH DON'T GIVE AS MUCH

2190
01:21:17,480 --> 01:21:19,680
INFORMATION FOR PEOPLE WITH

2191
01:21:19,680 --> 01:21:20,680
ANCESTORS FROM OUTSIDE OF

2192
01:21:20,680 --> 01:21:20,880
EUROPE.

2193
01:21:20,880 --> 01:21:24,240
SO WHEN WE GET A RESULT BACK,

2194
01:21:24,240 --> 01:21:26,640
THERE CAN BE A POSITIVE RESULT

2195
01:21:26,640 --> 01:21:29,400
WHICH MEANS A GENETIC CONDITION

2196
01:21:29,400 --> 01:21:31,600
WAS FOUND, A NEGATIVE RESULT

2197
01:21:31,600 --> 01:21:35,080
WHICH MEANS THAT NO GENETIC

2198
01:21:35,080 --> 01:21:37,400
CONDITION WAS FOUND.

2199
01:21:37,400 --> 01:21:39,520
THAT DOESN'T NECESSARILY MEAN

2200
01:21:39,520 --> 01:21:42,000
THAT THERE ISN'T ONE.

2201
01:21:42,000 --> 01:21:44,280
THE VARIATION IN GENETIC TESTING

2202
01:21:44,280 --> 01:21:45,480
TECHNOLOGY IS VERY WIDE AND SO

2203
01:21:45,480 --> 01:21:47,720
IT COULD BE THAT A CONDITION

2204
01:21:47,720 --> 01:21:49,480
COULD BE FOUND THROUGH ANOTHER

2205
01:21:49,480 --> 01:21:52,480
TEST, OR JUST THAT THE

2206
01:21:52,480 --> 01:21:55,320
TECHNOLOGY ISN'T THERE YET, THE

2207
01:21:55,320 --> 01:21:56,080
SCIENTIFIC KNOWLEDGE ISN'T THERE

2208
01:21:56,080 --> 01:21:56,680
YET.

2209
01:21:56,680 --> 01:22:01,200
AND A TEST IN A FEW YEARS MIGHT

2210
01:22:01,200 --> 01:22:03,240
FIND AN ANSWER.

2211
01:22:03,240 --> 01:22:05,080
VARIANTS OF UNCERTAIN

2212
01:22:05,080 --> 01:22:06,240
SIGNIFICANCE ARE ESSENTIALLY A

2213
01:22:06,240 --> 01:22:07,240
MAYBE ANSWER.

2214
01:22:07,240 --> 01:22:10,240
GENES CAN BE CHANGED IN MANY

2215
01:22:10,240 --> 01:22:12,000
DIFFERENT WAYS, AND SO THERE ARE

2216
01:22:12,000 --> 01:22:13,080
SOME DIFFERENCES IN GENES WHERE

2217
01:22:13,080 --> 01:22:15,880
WE DON'T KNOW IF THAT CAUSES A

2218
01:22:15,880 --> 01:22:18,880
HEALTH PROBLEM, OR NOT.

2219
01:22:18,880 --> 01:22:20,600
AND THOSE AGAIN ARE

2220
01:22:20,600 --> 01:22:22,600
DISPROPORTIONATELY PREVALENT IN

2221
01:22:22,600 --> 01:22:23,760
RACIAL AND ETHNIC MINORITY

2222
01:22:23,760 --> 01:22:25,680
COMMUNITIES, BECAUSE OF THE LACK

2223
01:22:25,680 --> 01:22:27,480
OF PARTICIPATION IN RESEARCH.

2224
01:22:27,480 --> 01:22:29,080
AND I KNOW THAT OTHER MEMBERS OF

2225
01:22:29,080 --> 01:22:34,960
THE PANEL WILL BE SPEAKING MORE

2226
01:22:34,960 --> 01:22:37,600
ABOUT THAT. 

2227
01:22:37,600 --> 01:22:39,560
AND IT IS IMPORTANT THAT

2228
01:22:39,560 --> 01:22:40,960
CLINICIANS EXPLAIN THE

2229
01:22:40,960 --> 01:22:42,160
DIFFERENCE BETWEEN POSITIVE,

2230
01:22:42,160 --> 01:22:44,120
NEGATIVE, VARIANTS OF UNKNOWN

2231
01:22:44,120 --> 01:22:45,200
SIGNIFICANCE, TO THE PATIENTS

2232
01:22:45,200 --> 01:22:48,160
AHEAD OF TESTING SO THAT THEY

2233
01:22:48,160 --> 01:22:51,880
KNOW THEY AREN'T SO DISAPPOINTED

2234
01:22:51,880 --> 01:22:57,160
IF THEY GET A NEGATIVE RESULT OR

2235
01:22:57,160 --> 01:22:59,080
IT DOESN'T CAUSE THEM AS MUCH

2236
01:22:59,080 --> 01:23:03,040
ANXIETY GETTING A MAYBE ANSWER.

2237
01:23:03,040 --> 01:23:05,880
SO, I HOPE THAT THIS HAS BEEN

2238
01:23:05,880 --> 01:23:07,200
HELPFUL INFORMATION FOR OUR

2239
01:23:07,200 --> 01:23:07,560
AUDIENCE.

2240
01:23:07,560 --> 01:23:09,360
IF ANYONE HAS QUESTIONS MY

2241
01:23:09,360 --> 01:23:11,680
CONTACT INFORMATION IS HERE AND

2242
01:23:11,680 --> 01:23:13,480
ALSO IN THE WHOVA APP.

2243
01:23:13,480 --> 01:23:16,480
THANK YOU VERY MUCH.

2244
01:23:16,480 --> 01:23:22,440
 

2245
01:23:22,440 --> 01:23:27,440
 

2246
01:23:27,440 --> 01:23:28,760
>> HELLO, I'M AISHA LANGFORD,

2247
01:23:28,760 --> 01:23:30,840
EXCITED TO BE SHARING MY

2248
01:23:30,840 --> 01:23:33,880
PERSPECTIVES AND RESEARCH ON

2249
01:23:33,880 --> 01:23:36,080
WAYS TO ENHANCE DIVERSITY,

2250
01:23:36,080 --> 01:23:36,680
EQUITY, INCLUSION, AND

2251
01:23:36,680 --> 01:23:38,920
ACCESSIBILITY IN CLINICAL TRIALS

2252
01:23:38,920 --> 01:23:41,680
BROADLY, IMPLICATIONS FOR RARE

2253
01:23:41,680 --> 01:23:43,080
DISEASES SPECIFICALLY.

2254
01:23:43,080 --> 01:23:44,840
AS MANY OF YOU KNOW, CLINICAL

2255
01:23:44,840 --> 01:23:47,320
TRIALS ARE QUITE DIVERSE WITH

2256
01:23:47,320 --> 01:23:48,520
REGARD TO PHASES OF CLINICAL

2257
01:23:48,520 --> 01:23:51,360
TRIALS, THE TIMES OF MODALITIES,

2258
01:23:51,360 --> 01:23:55,200
SO WHETHER WE'RE TALKING ABOUT

2259
01:23:55,200 --> 01:23:56,160
DRUGS, SURGERY, GENETICS,

2260
01:23:56,160 --> 01:23:57,800
THERE'S DIFFERENT WAYS YOU CAN

2261
01:23:57,800 --> 01:23:59,480
ADMINISTER CLINICAL TRIALS AND

2262
01:23:59,480 --> 01:24:00,960
THERE ARE DIFFERENT TARGET

2263
01:24:00,960 --> 01:24:01,240
POPULATIONS.

2264
01:24:01,240 --> 01:24:05,560
SO KEEP THAT IN THE BACK OF OUR

2265
01:24:05,560 --> 01:24:07,600
MIND.

2266
01:24:07,600 --> 01:24:09,440
THIS SLIDE HERE IS A BROAD

2267
01:24:09,440 --> 01:24:11,480
GENERAL CONCEPTUAL MODEL THAT I

2268
01:24:11,480 --> 01:24:13,920
HAD PUBLISHED IN THE JOURNAL OF

2269
01:24:13,920 --> 01:24:15,200
HEALTH COMMUNICATION LAST YEAR.

2270
01:24:15,200 --> 01:24:16,720
AND AS YOU CAN SEE THERE ARE A

2271
01:24:16,720 --> 01:24:18,600
LOT OF BULLETS, I'M NOT GOING TO

2272
01:24:18,600 --> 01:24:24,240
GO OVER EVERY SINGLE BULLET IN

2273
01:24:24,240 --> 01:24:26,880
THIS MODEL BUT CLINICAL TRIALS

2274
01:24:26,880 --> 01:24:28,200
FROM THE VERY BEGINNING OF

2275
01:24:28,200 --> 01:24:29,800
SOMEONE ACTUALLY KNOWING THAT A

2276
01:24:29,800 --> 01:24:32,680
CLINICAL TRIAL IS AVAILABLE TO

2277
01:24:32,680 --> 01:24:33,360
ACTUALLY ENROLLING AND STAYING

2278
01:24:33,360 --> 01:24:35,240
IN THE CLINICAL TRIAL TO THE END

2279
01:24:35,240 --> 01:24:37,200
IS IT CAN BE A LONG PROCESS,

2280
01:24:37,200 --> 01:24:39,720
WITH A LOT OF THINGS IN BETWEEN.

2281
01:24:39,720 --> 01:24:42,320
I ALWAYS LIKE TO REMIND

2282
01:24:42,320 --> 01:24:45,240
RESEARCHERS AND HEALTH CARE

2283
01:24:45,240 --> 01:24:47,200
PROVIDERS TO BE MINDFUL OF THE

2284
01:24:47,200 --> 01:24:50,120
CLINICAL TRIAL CHARACTERISTICS

2285
01:24:50,120 --> 01:24:51,200
AND PROTOCOL BURDEN, POTENTIAL

2286
01:24:51,200 --> 01:24:53,040
BUSHED ON PATIENTS.

2287
01:24:53,040 --> 01:24:56,640
ALSO TO REALLY UNDERSTAND YOUR

2288
01:24:56,640 --> 01:24:57,480
PATIENT'S CHARACTERISTICS OR

2289
01:24:57,480 --> 01:24:59,160
TARGET AUDIENCE SO THAT WE'RE

2290
01:24:59,160 --> 01:25:00,560
DESIGNING TRIALS PEOPLE CAN

2291
01:25:00,560 --> 01:25:01,760
ACTUALLY DO.

2292
01:25:01,760 --> 01:25:03,760
AND THAT PATIENT PERSPECTIVES

2293
01:25:03,760 --> 01:25:04,840
AND FAMILY PERSPECTIVES ARE

2294
01:25:04,840 --> 01:25:07,760
INTEGRATED IN SOME OF THE

2295
01:25:07,760 --> 01:25:11,680
ENDPOINTS AND FOCUS MEASURES

2296
01:25:11,680 --> 01:25:12,680
THAT WE'RE EXPLORING.

2297
01:25:12,680 --> 01:25:15,160
IN THE SAME PAPER PUBLISHED IN

2298
01:25:15,160 --> 01:25:16,520
THE JOURNAL OF HEALTH

2299
01:25:16,520 --> 01:25:18,840
COMMUNICATION, I PUT FORTH THE

2300
01:25:18,840 --> 01:25:20,800
ASK APPROACH TO ENHANCING

2301
01:25:20,800 --> 01:25:23,080
CLINICAL TRIAL PARTICIPATION.

2302
01:25:23,080 --> 01:25:24,800
THAT'S REALLY A HUERISTIC AND

2303
01:25:24,800 --> 01:25:26,160
REMINDER THAT IT IS VERY

2304
01:25:26,160 --> 01:25:28,560
IMPORTANT TO MAKE SURE PATIENTS

2305
01:25:28,560 --> 01:25:30,480
ARE PROPERLY SCREENED FOR

2306
01:25:30,480 --> 01:25:31,640
ELIGIBILITY AND ACTUALLY ASKED.

2307
01:25:31,640 --> 01:25:34,080
THERE'S A GOOD BODY OF RESEARCH

2308
01:25:34,080 --> 01:25:36,320
THAT SHOW ONE OF THE BIGGEST

2309
01:25:36,320 --> 01:25:39,160
REASONS THAT PATIENTS DO NOT

2310
01:25:39,160 --> 01:25:39,840
PARTICIPATE IN CLINICAL TRIALS

2311
01:25:39,840 --> 01:25:41,480
IS BECAUSE THEY ARE NEVER AWARE

2312
01:25:41,480 --> 01:25:43,080
A CLINICAL TRIAL IS AVAILABLE.

2313
01:25:43,080 --> 01:25:45,200
AND THEY ARE NEVER EXPLICITLY

2314
01:25:45,200 --> 01:25:47,840
ASKED TO PARTICIPATE.

2315
01:25:47,840 --> 01:25:50,880
SO, THE "A" IN ASK STARTS WITH

2316
01:25:50,880 --> 01:25:51,120
ASSUME.

2317
01:25:51,120 --> 01:25:52,320
INSTEAD OF ASSUMING THAT

2318
01:25:52,320 --> 01:25:55,440
PATIENTS ARE GOING TO

2319
01:25:55,440 --> 01:25:57,000
AUTOMATICALLY BE FEARFUL, OR

2320
01:25:57,000 --> 01:26:01,480
MISTRUSTFUL, OR NOT WILLING TO 

2321
01:26:01,480 --> 01:26:02,880
DO A TRIAL, ASSUME YOUR PATIENTS

2322
01:26:02,880 --> 01:26:05,560
WANT TO KNOW OPTIONS AND

2323
01:26:05,560 --> 01:26:08,920
CLINICAL TRIALS FOR MANY ARE AN

2324
01:26:08,920 --> 01:26:09,680
OPTION, LET'S ASSUME THEY WANT

2325
01:26:09,680 --> 01:26:11,080
TO KNOW ALL THEIR OPTIONS.

2326
01:26:11,080 --> 01:26:14,440
WE WANT TO MAKE SURE WE'RE

2327
01:26:14,440 --> 01:26:16,280
SEEKING COUNSEL OF STAKEHOLDERS.

2328
01:26:16,280 --> 01:26:18,000
STAKEHOLDERS ARE OFTEN THOUGHT

2329
01:26:18,000 --> 01:26:20,400
OF AS PATIENTS IN FAMILIES, IN

2330
01:26:20,400 --> 01:26:23,560
CLINICIANS, THOSE ARE ALL VERY

2331
01:26:23,560 --> 01:26:23,840
IMPORTANT.

2332
01:26:23,840 --> 01:26:25,560
DEPENDING ON WHO YOU ARE TRYING

2333
01:26:25,560 --> 01:26:26,960
TO REACH, AND WHERE YOU ARE

2334
01:26:26,960 --> 01:26:29,360
TRYING TO REACH THEM, YOU MAY

2335
01:26:29,360 --> 01:26:31,560
WANT TO CONSIDER PARTNERING WITH

2336
01:26:31,560 --> 01:26:33,960
YOUR MARKETING AND COMMUNICATION

2337
01:26:33,960 --> 01:26:35,040
PROFESSIONALS, DEPENDING ON HOW

2338
01:26:35,040 --> 01:26:38,240
YOU'RE GOING TO INVITE PATIENTS,

2339
01:26:38,240 --> 01:26:39,880
IF YOU'RE GOING TO INVITE THEM

2340
01:26:39,880 --> 01:26:41,080
THROUGH THE PATIENT PORTAL, YOU

2341
01:26:41,080 --> 01:26:43,040
MAY NEED TO PARTNER WITH YOUR

2342
01:26:43,040 --> 01:26:45,080
HEALTH INFORMATICS TEAM SO

2343
01:26:45,080 --> 01:26:46,680
REALLY BE BROAD AND INCLUSIVE,

2344
01:26:46,680 --> 01:26:48,880
OF WHO YOU CONSIDER A

2345
01:26:48,880 --> 01:26:49,680
STAKEHOLDERS.

2346
01:26:49,680 --> 01:26:51,480
LASTLY, IT'S REALLY IMPORTANT TO

2347
01:26:51,480 --> 01:26:52,440
KNOW YOUR NUMBERS.

2348
01:26:52,440 --> 01:26:54,240
AND KNOW YOUR NUMBERS HAS TO DO

2349
01:26:54,240 --> 01:26:57,320
WITH YOU HAVE TO KNOW WHAT THE

2350
01:26:57,320 --> 01:26:59,240
THEORETICAL SPEAR OF PEOPLE WHO

2351
01:26:59,240 --> 01:27:00,920
CAN POTENTIALLY BE ELIGIBLE ARE.

2352
01:27:00,920 --> 01:27:03,440
YOU NEED TO KNOW HOW MANY PEOPLE

2353
01:27:03,440 --> 01:27:04,640
HAVE ACTUALLY BEEN APPROACHED

2354
01:27:04,640 --> 01:27:05,640
AND INVITED.

2355
01:27:05,640 --> 01:27:08,680
YOU SHOULD BE HOPEFULLY KEEPING

2356
01:27:08,680 --> 01:27:11,760
TRACK OF WHO IS ACCEPTING OR

2357
01:27:11,760 --> 01:27:13,200
DECLINING, AND WHO IS INTERESTED

2358
01:27:13,200 --> 01:27:15,480
BUT NOT ELIGIBLE OR MAYBE WHO IS

2359
01:27:15,480 --> 01:27:18,000
INTERESTED BUT CAN'T DO IT

2360
01:27:18,000 --> 01:27:19,960
BECAUSE THE CLINICAL HOURS ARE

2361
01:27:19,960 --> 01:27:21,320
CONFINED TO MONDAY THROUGH

2362
01:27:21,320 --> 01:27:23,120
FRIDAY FROM 9 A.M. TO 4 P.M. AND

2363
01:27:23,120 --> 01:27:25,680
THEY WOULD DO IT OTHERWISE IF

2364
01:27:25,680 --> 01:27:26,520
THAT THERE WERE FLEXIBLE

2365
01:27:26,520 --> 01:27:27,720
APPOINTMENTS, FOR EXAMPLE IN THE

2366
01:27:27,720 --> 01:27:28,480
EVENING OR WEEKENDS.

2367
01:27:28,480 --> 01:27:30,480
THOSE ARE THE TYPE OF NUMBERS

2368
01:27:30,480 --> 01:27:34,400
THAT WE TRY TO CAPTURE AT MY

2369
01:27:34,400 --> 01:27:40,680
INSTITUTION IN OUR CLINICAL

2370
01:27:40,680 --> 01:27:42,080
ANSWER TRANSLATIONAL INSTITUTE

2371
01:27:42,080 --> 01:27:43,040
AND RECRUITMENT AND RETENTION

2372
01:27:43,040 --> 01:27:49,040
CORE I CO-LEAD.

2373
01:27:49,040 --> 01:27:50,640
SICKLE CELL THERAPY AS AN

2374
01:27:50,640 --> 01:27:52,080
EXAMPLE OF A CLINICAL TRIAL, YOU

2375
01:27:52,080 --> 01:27:54,080
MAY BE FAMILIAR WITH THIS

2376
01:27:54,080 --> 01:27:57,200
CLINICAL TRIAL THAT WAS STARTED

2377
01:27:57,200 --> 01:28:00,640
RECRUITING I BELIEVE IN 2014.

2378
01:28:00,640 --> 01:28:02,160
AND IN FEBRUARY OF 2021 THERE

2379
01:28:02,160 --> 01:28:04,680
WAS A STORY ABOUT THIS GENE

2380
01:28:04,680 --> 01:28:07,640
THERAPY TRIAL FOR SICKLE CELL

2381
01:28:07,640 --> 01:28:10,320
WAS HALTED BECAUSE TWO PATIENTS

2382
01:28:10,320 --> 01:28:10,720
DEVELOPED CANCER.

2383
01:28:10,720 --> 01:28:12,680
JUST THINK IF YOU'RE A PARENT, A

2384
01:28:12,680 --> 01:28:14,920
PERSON IN THE WORLD WITH SICKLE

2385
01:28:14,920 --> 01:28:16,120
CELL DISEASE, SEEING THIS

2386
01:28:16,120 --> 01:28:17,800
ARTICLE IN THE NEWSPAPER OR

2387
01:28:17,800 --> 01:28:19,080
ARTICLE ON THE INTERNET, HOW YOU

2388
01:28:19,080 --> 01:28:20,520
WOULD FEEL AND WHAT YOU WOULD DO

2389
01:28:20,520 --> 01:28:25,120
AND WHAT THOSE IMPLICATIONS MAY

2390
01:28:25,120 --> 01:28:31,040
MEAN FOR THE TEAM RUNNING THIS

2391
01:28:31,040 --> 01:28:31,680
TRIAL.

2392
01:28:31,680 --> 01:28:34,080
THIS IS FEBRUARY 2021.

2393
01:28:34,080 --> 01:28:36,360
IN MARCH OF 2021 THERE WAS

2394
01:28:36,360 --> 01:28:37,800
ANOTHER ARTICLE THAT CAME OUT IN

2395
01:28:37,800 --> 01:28:39,200
THE "NEW YORK TIMES" THAT

2396
01:28:39,200 --> 01:28:40,880
ACTUALLY SHOWED THAT THE SICKLE

2397
01:28:40,880 --> 01:28:43,600
CELL TREATMENT WAS NOT LINKED TO

2398
01:28:43,600 --> 01:28:45,400
CANCER, RESEARCHERS SAY.

2399
01:28:45,400 --> 01:28:46,680
AGAIN, THINKING ABOUT YOURSELF,

2400
01:28:46,680 --> 01:28:50,120
IF YOU WERE A PATIENT OR FAMILY

2401
01:28:50,120 --> 01:28:51,480
MEMBER, EVEN A CLINICIAN

2402
01:28:51,480 --> 01:28:52,560
FOLLOWING THIS GENE THERAPY

2403
01:28:52,560 --> 01:28:54,240
TRIAL, WHAT YOU WOULD BE

2404
01:28:54,240 --> 01:28:56,640
THINKING AND HOW WOULD YOU BE

2405
01:28:56,640 --> 01:28:58,680
EXPLAINING THIS TO PATIENTS IF

2406
01:28:58,680 --> 01:29:00,480
AT ALL.

2407
01:29:00,480 --> 01:29:01,600
AND THEN FINALLY THERE'S

2408
01:29:01,600 --> 01:29:03,160
SOMEWHAT HAPPY ENDING TO THIS

2409
01:29:03,160 --> 01:29:08,080
STORY, SO IN DECEMBER OF 2021 AS

2410
01:29:08,080 --> 01:29:10,120
YOU CAN SEE ON NIH, NATIONAL

2411
01:29:10,120 --> 01:29:11,880
HEART, LUNG AND BLOOD INSTITUTE

2412
01:29:11,880 --> 01:29:15,160
HAD THIS WONDERFUL PRESS RELEASE

2413
01:29:15,160 --> 01:29:17,560
THAT THIS EXPERIMENTAL GENE

2414
01:29:17,560 --> 01:29:20,080
THERAPY APPROACH SHOWS PROMISE

2415
01:29:20,080 --> 01:29:22,360
FOR ELIMINATING PAIN AND I THINK

2416
01:29:22,360 --> 01:29:23,920
FOR PATIENTS AND FAMILIES THAT

2417
01:29:23,920 --> 01:29:25,520
ARE SUFFERING FROM SICKLE CELL

2418
01:29:25,520 --> 01:29:28,080
THIS PROVIDED A LOT OF HOPE FOR

2419
01:29:28,080 --> 01:29:28,240
THEM.

2420
01:29:28,240 --> 01:29:30,240
AND THE PAPER WAS ACTUALLY

2421
01:29:30,240 --> 01:29:31,560
PUBLISHED, IN THE NEW ENGLAND

2422
01:29:31,560 --> 01:29:33,000
JOURNAL OF MEDICINE, AND, AGAIN,

2423
01:29:33,000 --> 01:29:36,040
I WON'T GO OVER THIS WHOLE

2424
01:29:36,040 --> 01:29:38,440
ARTICLE WITH YOU BUT AS A NERDY

2425
01:29:38,440 --> 01:29:41,080
RESEARCHER I LIKE TO LOOK AT THE

2426
01:29:41,080 --> 01:29:43,040
TABLE 1, DEMOGRAPHICS OF WHO

2427
01:29:43,040 --> 01:29:47,120
MADE IT INTO THE TRIALS OR THIS

2428
01:29:47,120 --> 01:29:47,520
PARTICULAR TRIAL.

2429
01:29:47,520 --> 01:29:51,680
AND THERE WERE 35 PARTICIPANTS,

2430
01:29:51,680 --> 01:29:52,880
AND APPROXIMATELY 34

2431
01:29:52,880 --> 01:29:54,600
SELF-IDENTIFIED AS BLACK, AND

2432
01:29:54,600 --> 01:29:59,520
MEDIAN AGE WAS 24, THINKING

2433
01:29:59,520 --> 01:30:00,840
ABOUT DIVERSITY, INCLUSION, AND

2434
01:30:00,840 --> 01:30:02,800
EQUITY, THIS IS PROMISING TO ME

2435
01:30:02,800 --> 01:30:05,760
BECAUSE I DO KNOW THAT ALTHOUGH

2436
01:30:05,760 --> 01:30:07,680
SICKLE CELL DISEASE CAN AFFECT

2437
01:30:07,680 --> 01:30:08,920
SEVERAL RACIAL AND ETHNIC

2438
01:30:08,920 --> 01:30:12,960
GROUPS, BLACK ADULTS AND BLACK

2439
01:30:12,960 --> 01:30:15,080
AMERICANS ARE AT GREATER RISK OF

2440
01:30:15,080 --> 01:30:16,800
SUFFERING FROM SICKLE CELL FOR A

2441
01:30:16,800 --> 01:30:19,000
VARIETY OF REASONS.

2442
01:30:19,000 --> 01:30:20,400
SO, AGAIN, THINKING ABOUT ALL OF

2443
01:30:20,400 --> 01:30:22,040
THESE NEWS ARTICLES AND PRESS

2444
01:30:22,040 --> 01:30:23,760
RELEASES THAT I SHOWED YOU,

2445
01:30:23,760 --> 01:30:25,280
THINK ABOUT IF YOU WERE A

2446
01:30:25,280 --> 01:30:26,880
CLINICIAN AND YOU HAD A PATIENT

2447
01:30:26,880 --> 01:30:29,680
THAT WALKED IN AND SAID, HEY,

2448
01:30:29,680 --> 01:30:31,760
DR. BOB, I READ IN THE NEWS THEY

2449
01:30:31,760 --> 01:30:33,480
FOUND A CURE FOR SICKLE CELL

2450
01:30:33,480 --> 01:30:35,160
DISEASE, HELP ME GET IT, I CAN'T

2451
01:30:35,160 --> 01:30:36,960
TAKE THIS PAIN ANY LONGER.

2452
01:30:36,960 --> 01:30:38,520
IT WORKS, RIGHT?

2453
01:30:38,520 --> 01:30:40,200
HOW DO I GET IT?

2454
01:30:40,200 --> 01:30:42,040
THESE ARE THE QUESTIONS MY

2455
01:30:42,040 --> 01:30:43,360
COLLEAGUES GET DEALING WITH

2456
01:30:43,360 --> 01:30:45,400
PATIENTS FOLLOWING RESEARCH AND

2457
01:30:45,400 --> 01:30:46,600
HAVE RARE CONDITIONS.

2458
01:30:46,600 --> 01:30:48,240
IF YOU ARE INTERESTED IN

2459
01:30:48,240 --> 01:30:51,160
LEARNING A LITTLE BIT MORE ABOUT

2460
01:30:51,160 --> 01:30:53,480
ISSUES IN PEDIATRIC GENE THERAPY

2461
01:30:53,480 --> 01:30:54,800
RESEARCH, IN PARTICULAR EQUITY,

2462
01:30:54,800 --> 01:30:56,960
YOU MAY WANT TO WATCH THIS

2463
01:30:56,960 --> 01:30:58,680
YouTube VIDEO.

2464
01:30:58,680 --> 01:31:00,680
I'M PART OF THE PEDIATRIC GENE

2465
01:31:00,680 --> 01:31:02,880
THERAPY WORKING GROUP AT NYU AND

2466
01:31:02,880 --> 01:31:04,600
WE EXPLICITLY TALKED ABOUT THIS

2467
01:31:04,600 --> 01:31:05,680
LAST YEAR.

2468
01:31:05,680 --> 01:31:13,320
ACTUALLY IN 2020 AS PART OF OUR

2469
01:31:13,320 --> 01:31:15,120
LUNCH TIME SERIES.

2470
01:31:15,120 --> 01:31:16,960
IMAGINE YOU HAVE A CHILD WITH

2471
01:31:16,960 --> 01:31:18,160
SICKLE CELL DISEASE, AND YOU

2472
01:31:18,160 --> 01:31:19,680
WANT TO LEARN ABOUT YOUR

2473
01:31:19,680 --> 01:31:20,520
CLINICAL TRIAL OPTIONS.

2474
01:31:20,520 --> 01:31:21,640
WHERE WOULD YOU GO?

2475
01:31:21,640 --> 01:31:24,000
WHO WOULD YOU ASK?

2476
01:31:24,000 --> 01:31:27,160
WHO WOULD YOU HAVE HELP YOU FIND

2477
01:31:27,160 --> 01:31:27,400
OPTIONS?

2478
01:31:27,400 --> 01:31:29,760
THIS IS AN OPEN TRIAL THAT IS

2479
01:31:29,760 --> 01:31:33,160
RECRUITING THAT I FOUND ON

2480
01:31:33,160 --> 01:31:33,600
clinicaltrials.gov.

2481
01:31:33,600 --> 01:31:36,760
IT'S TESTING A DRUG VERSUS

2482
01:31:36,760 --> 01:31:38,960
PLACEBO IN CHILDREN WHO HAVE

2483
01:31:38,960 --> 01:31:40,680
SICKLE CELL DISEASE, CHILDREN

2484
01:31:40,680 --> 01:31:43,200
OLDER THAN 2, LESS THAN 15.

2485
01:31:43,200 --> 01:31:47,440
AND SO IF A FAMILY WAS MAYBE

2486
01:31:47,440 --> 01:31:50,680
BORED ON A WEEKEND, NOT WATCHING

2487
01:31:50,680 --> 01:31:52,320
TO WATCH TIKTOK VIDEOS,

2488
01:31:52,320 --> 01:31:53,320
EXPLORING clinicaltrials.gov

2489
01:31:53,320 --> 01:31:54,840
THEY MAY COME ACROSS THIS TRIAL

2490
01:31:54,840 --> 01:31:56,840
AND ASK THE DOCTOR SHOULD I DO

2491
01:31:56,840 --> 01:31:57,240
THIS?

2492
01:31:57,240 --> 01:31:59,760
THIS IS MY LAST SLIDE BUT SOME

2493
01:31:59,760 --> 01:32:02,480
OF THE EMERGING ISSUES AND

2494
01:32:02,480 --> 01:32:03,240
CHALLENGES IN CLINICAL TRIALS

2495
01:32:03,240 --> 01:32:06,200
BROADLY AND ALSO IN RARE

2496
01:32:06,200 --> 01:32:10,120
DISEASES ARE HOW TO EXPLAIN

2497
01:32:10,120 --> 01:32:11,560
RANDOMIZATION TO PATIENTS AND

2498
01:32:11,560 --> 01:32:13,280
FAMILIES, HOW TO COMMUNICATE

2499
01:32:13,280 --> 01:32:14,200
UNCERTAINTY BECAUSE IN MANY

2500
01:32:14,200 --> 01:32:15,680
CLINICAL TRIALS ESPECIALLY PHASE

2501
01:32:15,680 --> 01:32:17,480
1 AND PHASE 2 AND IN GENE

2502
01:32:17,480 --> 01:32:19,480
THERAPY TRIALS WE DON'T ALWAYS

2503
01:32:19,480 --> 01:32:21,880
KNOW WHAT IS GOING TO HAPPEN.

2504
01:32:21,880 --> 01:32:23,080
IT'S VERY EARLY.

2505
01:32:23,080 --> 01:32:25,360
WHAT IF ANY AUDIO/VISUAL

2506
01:32:25,360 --> 01:32:26,760
SUPPORTS ARE HELPFUL FOR

2507
01:32:26,760 --> 01:32:29,160
IMPROVING INFORMED CONSENT?

2508
01:32:29,160 --> 01:32:31,680
AND FINALLY MANAGING

2509
01:32:31,680 --> 01:32:33,520
EXPECTATIONS AND I WAS PART OF A

2510
01:32:33,520 --> 01:32:35,400
CONFERENCE A COUPLE WEEKS AGO

2511
01:32:35,400 --> 01:32:37,480
AND ONE OF THE PATIENT ADVOCATES

2512
01:32:37,480 --> 01:32:38,920
WHOSE SON HAS A RARE CONDITION

2513
01:32:38,920 --> 01:32:40,760
SAID WE SHOULD STOP SAYING IT'S

2514
01:32:40,760 --> 01:32:41,960
FALSE HOPE.

2515
01:32:41,960 --> 01:32:43,920
MAYBE WE SHOULD CALL IT

2516
01:32:43,920 --> 01:32:46,160
MISGUIDED HOPE AND CLINICIANS AN

2517
01:32:46,160 --> 01:32:46,920
HEALTH COMMUNICATORS MAYBE NEED

2518
01:32:46,920 --> 01:32:49,480
TO DO A BETTER JOB HELPING TO

2519
01:32:49,480 --> 01:32:50,200
MANAGE EXPECTATIONS BUT HOPE

2520
01:32:50,200 --> 01:32:52,480
SOMETIMES IS ALL THEY HAVE LEFT.

2521
01:32:52,480 --> 01:32:54,240
AND WE SHOULDN'T SAY THAT IT'S A

2522
01:32:54,240 --> 01:32:57,120
FALSE HOPE OR BAD THING TO BE A

2523
01:32:57,120 --> 01:32:58,960
PARENT OR FAMILY MEMBER.

2524
01:32:58,960 --> 01:33:00,080
MAINTAINING HOPE THAT ONE DAY

2525
01:33:00,080 --> 01:33:03,560
THERE MAYBE WILL BE A CURE OR

2526
01:33:03,560 --> 01:33:04,200
MORE EFFECTIVE TREATMENT.

2527
01:33:04,200 --> 01:33:19,680
THANK YOU. 

2528
01:33:19,680 --> 01:33:23,880
 

2529
01:33:23,880 --> 01:33:27,280
>> I'M NICOLE KRESSIN, CHAIR OF

2530
01:33:27,280 --> 01:33:29,680
INC DIVERSITY COMMITTEE, I

2531
01:33:29,680 --> 01:33:32,520
CO-CHAIR THE RARE DISEASE

2532
01:33:32,520 --> 01:33:34,040
CLINICAL RESEARCH NETWORKS

2533
01:33:34,040 --> 01:33:40,480
DIVERSITY COMMITTEE WITH  DR.

2534
01:33:40,480 --> 01:33:47,960
TRACY KING AND A CONSORTIUM P.I.

2535
01:33:47,960 --> 01:33:49,280
AT THE MAYO CLINIC.

2536
01:33:49,280 --> 01:33:54,880
I'M GOING TO DISCUSS HOW ONE 

2537
01:33:54,880 --> 01:33:58,240
GRASS ROOTS D.E.I.A EFFORTS

2538
01:33:58,240 --> 01:34:00,640
BLOSSOMED AND HOW WE CONTINUE TO

2539
01:34:00,640 --> 01:34:05,400
FOSTER CHANGE IN THE LONG TERM.

2540
01:34:05,400 --> 01:34:08,120
THE INC IS A CONSORTIUM WITH 20

2541
01:34:08,120 --> 01:34:09,640
RESEARCH SITES IN FOUR

2542
01:34:09,640 --> 01:34:13,360
COUNTRIES, MANY TYPES OF

2543
01:34:13,360 --> 01:34:15,480
INHERITED NEUROPATHY, THE MOST

2544
01:34:15,480 --> 01:34:17,880
COMMON CMT TYPE 1A NO KNOWN

2545
01:34:17,880 --> 01:34:19,080
RACIAL OR ETHNICITY

2546
01:34:19,080 --> 01:34:21,800
PREDISPOSITION TO HAVING THE

2547
01:34:21,800 --> 01:34:22,160
DISEASE.

2548
01:34:22,160 --> 01:34:23,760
RESEARCH AND CLINICAL POPULATION

2549
01:34:23,760 --> 01:34:26,160
SHOULD REFLECT THE DEMOGRAPHICS

2550
01:34:26,160 --> 01:34:27,880
OF THE LOCAL POPULATIONS AT

2551
01:34:27,880 --> 01:34:29,880
STUDIES SITES BUT THEY DO NOT.

2552
01:34:29,880 --> 01:34:31,280
THE COMMITTEE HAS TEN MEMBERS,

2553
01:34:31,280 --> 01:34:33,240
EVERYONE WHO IS PART OF OUR

2554
01:34:33,240 --> 01:34:34,680
CONSORTIUM IS ENCOURAGED TO JOIN

2555
01:34:34,680 --> 01:34:36,000
IF THEY WISH.

2556
01:34:36,000 --> 01:34:37,200
WE REPRESENT SEVERAL ROLES

2557
01:34:37,200 --> 01:34:39,600
WITHIN OUR CONSORTIUM AND ARE

2558
01:34:39,600 --> 01:34:40,880
LOCATED IN THREE COUNTRIES,

2559
01:34:40,880 --> 01:34:43,000
SEVERAL U.S. STATES.

2560
01:34:43,000 --> 01:34:44,520
WE HAVE VARIED LEVELS OF

2561
01:34:44,520 --> 01:34:46,000
EXPERIENCE AND EDUCATION, NONE

2562
01:34:46,000 --> 01:34:47,760
HAD SIGNIFICANT EXPERIENCE WITH

2563
01:34:47,760 --> 01:34:50,160
D.E.I.A WORK TRIBE TO JOINING

2564
01:34:50,160 --> 01:34:51,920
THE COMMITTEE, BUT WE'RE ALL

2565
01:34:51,920 --> 01:34:57,920
DEEPLY PASSIONATE AND ENGAGED IN

2566
01:34:57,920 --> 01:34:59,640
THE WORK.

2567
01:34:59,640 --> 01:35:02,080
A PILLAR IN SUCCESS HAS BEEN OUR

2568
01:35:02,080 --> 01:35:02,480
APPROACH.

2569
01:35:02,480 --> 01:35:03,640
OUR MEETINGS ARE PRODUCTIVE BUT

2570
01:35:03,640 --> 01:35:05,480
FEEL LIKE A GATHERING OF

2571
01:35:05,480 --> 01:35:05,960
FRIENDS.

2572
01:35:05,960 --> 01:35:07,760
WE BENEFIT GREATLY FROM THE

2573
01:35:07,760 --> 01:35:09,880
REPRESENTATION OF DIFFERENT

2574
01:35:09,880 --> 01:35:11,720
ROLES AND GEOGRAPHIC LOCATIONS

2575
01:35:11,720 --> 01:35:13,560
MEMBERS PROVIDE AND WE RECOGNIZE

2576
01:35:13,560 --> 01:35:14,560
DIVERSITY IS MULTI-FACETED AND

2577
01:35:14,560 --> 01:35:17,400
MAY NOT BE VISIBLE TO US AS

2578
01:35:17,400 --> 01:35:17,680
RESEARCHERS.

2579
01:35:17,680 --> 01:35:19,240
FOR THAT REASON WE FOCUS ON

2580
01:35:19,240 --> 01:35:21,240
IMPACT AND ACTIONS THAT WILL

2581
01:35:21,240 --> 01:35:23,400
BETTER SUPPORT ALL PATIENTS.

2582
01:35:23,400 --> 01:35:26,880
OUR ACTIONS HAVE CENTERED AROUND

2583
01:35:26,880 --> 01:35:27,880
REORGANIZING EXISTING RESOURCES.

2584
01:35:27,880 --> 01:35:29,400
COMMITTEE DOES NOT HAVE

2585
01:35:29,400 --> 01:35:30,840
DEDICATED FUNDING OR PROTECTED

2586
01:35:30,840 --> 01:35:32,560
TIME FOR MEMBERS.

2587
01:35:32,560 --> 01:35:35,200
WE FOUND, HOWEVER, SOME OF OUR

2588
01:35:35,200 --> 01:35:36,080
MOST IMPACTFUL ACTIONS DON'T

2589
01:35:36,080 --> 01:35:37,680
REQUIRE MUCH TIME OR MONEY.

2590
01:35:37,680 --> 01:35:40,400
MOST OF OUR ACTIONS CENTERED

2591
01:35:40,400 --> 01:35:40,840
AROUND COMMUNICATING

2592
01:35:40,840 --> 01:35:42,880
DIFFERENTLY, IF YOU LOOK AT THE

2593
01:35:42,880 --> 01:35:44,680
BULLET POINTS DESCRIBING SOME

2594
01:35:44,680 --> 01:35:47,000
INITIATIVES THEY ALL BOIL DOWN

2595
01:35:47,000 --> 01:35:48,520
TO COMMUNICATION.

2596
01:35:48,520 --> 01:35:50,480
SO, RAISING AWARENESS THROUGH

2597
01:35:50,480 --> 01:35:52,040
COMMUNICATIONS WITH PATIENT

2598
01:35:52,040 --> 01:35:54,680
COMMUNITIES, GENERAL 

2599
01:35:54,680 --> 01:35:55,880
NEUROLOGISTS, PRIMARY CARE

2600
01:35:55,880 --> 01:35:56,640
PROVIDERS, INCLUSIVE SOCIAL

2601
01:35:56,640 --> 01:35:58,240
MEDIA CAMPAIGNS PROVIDING

2602
01:35:58,240 --> 01:35:59,800
INFORMATION TO OUR RESEARCHERS

2603
01:35:59,800 --> 01:36:03,080
ABOUT REPRESENTATION AND BIAS

2604
01:36:03,080 --> 01:36:05,200
AND PRESENTATIONS, POSTERS,

2605
01:36:05,200 --> 01:36:06,080
MANUSCRIPTS, WE CREATED

2606
01:36:06,080 --> 01:36:07,920
DIVERSITY, EQUITY, AND INCLUSION

2607
01:36:07,920 --> 01:36:08,960
LEADERSHIP INTERNSHIP POSITION

2608
01:36:08,960 --> 01:36:13,240
FOR A JUNIOR STUDY STAFF MEMBER,

2609
01:36:13,240 --> 01:36:14,080
PLANNING TO ENTER A PROFESSIONAL

2610
01:36:14,080 --> 01:36:16,600
PROGRAM SO THEY ARE GETTING THAT

2611
01:36:16,600 --> 01:36:17,760
KIND OF LEADERSHIP EXPERIENCE

2612
01:36:17,760 --> 01:36:18,680
VERY EARLY ON IN THEIR CAREER

2613
01:36:18,680 --> 01:36:22,560
THAT THEY CAN TAKE WITH THEM

2614
01:36:22,560 --> 01:36:22,880
THROUGHOUT.

2615
01:36:22,880 --> 01:36:24,800
AND THEN DEVELOPING AND

2616
01:36:24,800 --> 01:36:26,560
VALIDATING OUR VIRTUAL

2617
01:36:26,560 --> 01:36:27,560
ASSESSMENTS INTO ENGLISH,

2618
01:36:27,560 --> 01:36:29,400
SPANISH, ITALIAN, SO PATIENTS

2619
01:36:29,400 --> 01:36:32,240
CAN ENROLL VIRTUALLY IN OUR

2620
01:36:32,240 --> 01:36:32,480
STUDY.

2621
01:36:32,480 --> 01:36:34,760
SO HOW CAN YOUR TEAM GET

2622
01:36:34,760 --> 01:36:35,440
STARTED?

2623
01:36:35,440 --> 01:36:44,160
WELL, THERE ARE MANY COMPLEX

2624
01:36:44,160 --> 01:36:44,800
ISSUES.

2625
01:36:44,800 --> 01:36:46,080
WE'VE LEARNED SHIFTING OUR

2626
01:36:46,080 --> 01:36:47,440
MINDSET IS THE MOST IMPORTANT

2627
01:36:47,440 --> 01:36:49,360
FIRST STEP TO BEGIN ADDRESSING

2628
01:36:49,360 --> 01:36:50,480
THOSE ISSUES.

2629
01:36:50,480 --> 01:36:51,240
DISMANTLING EXISTING SYSTEMS

2630
01:36:51,240 --> 01:36:55,040
THAT WORKED FOR SOME BUT NOT ALL

2631
01:36:55,040 --> 01:36:57,560
MAY FEEL UNCOMFORTABLE AND WILL

2632
01:36:57,560 --> 01:36:59,000
LOOK DIFFERENT, ESPECIALLY SINCE

2633
01:36:59,000 --> 01:37:00,880
MANY IN ACADEMIA HAVE BENEFITED

2634
01:37:00,880 --> 01:37:03,480
FROM THE BIASES BUILT INTO THE

2635
01:37:03,480 --> 01:37:04,320
EXISTING SYSTEMS.

2636
01:37:04,320 --> 01:37:06,720
WE MUST LEARN TO SIT WITH

2637
01:37:06,720 --> 01:37:07,600
DISCOMFORT AND RECOGNIZE WORKING

2638
01:37:07,600 --> 01:37:15,680
THROUGH A D.E.I.A LENS IS PART

2639
01:37:15,680 --> 01:37:16,120
OF RESEARCH.

2640
01:37:16,120 --> 01:37:18,400
WE ALL HAVE THE TOOLS TO BEGIN

2641
01:37:18,400 --> 01:37:21,120
TO CREATE CHANGE, IT TAKES A

2642
01:37:21,120 --> 01:37:22,680
TEAM OF TALENTED ENGAGED

2643
01:37:22,680 --> 01:37:24,640
VOLUNTEERS WHO CAN REIMAGINE THE

2644
01:37:24,640 --> 01:37:27,000
RESOURCES YOU HAVE.

2645
01:37:27,000 --> 01:37:28,760
ONE EXAMPLE IS CREATING SOCIAL

2646
01:37:28,760 --> 01:37:29,400
ACCOUNTABILITY.

2647
01:37:29,400 --> 01:37:30,920
THAT'S FREE AND TAKES LITTLE

2648
01:37:30,920 --> 01:37:31,480
TIME.

2649
01:37:31,480 --> 01:37:34,720
MAKING A DISCUSSION OF D.E.I.A

2650
01:37:34,720 --> 01:37:36,000
EFFORTS IS STANDARD IN MEETINGS,

2651
01:37:36,000 --> 01:37:37,840
PUBLICATIONS AND TALKS IS A

2652
01:37:37,840 --> 01:37:40,680
GREAT EXAMPLE HOW TO DO THIS.

2653
01:37:40,680 --> 01:37:43,680
THE INC COMMITTEE BEGAN TALKING

2654
01:37:43,680 --> 01:37:46,760
WITH OTHER GROUPS, I HAVE LOGOS,

2655
01:37:46,760 --> 01:37:47,880
ABOUT EFFORTS, IT'S CLEAR SOME

2656
01:37:47,880 --> 01:37:50,200
OF THE CHALLENGES ARE UNIVERSAL

2657
01:37:50,200 --> 01:37:51,680
ACROSS CONSORTIA AND STUDY SITES

2658
01:37:51,680 --> 01:37:53,800
WITHIN THE U.S. AND

2659
01:37:53,800 --> 01:37:54,480
INTERNATIONALLY.

2660
01:37:54,480 --> 01:37:55,320
AND PEOPLE ACROSS THE NETWORK

2661
01:37:55,320 --> 01:37:57,480
WERE INTERESTED IN LEARNING FROM

2662
01:37:57,480 --> 01:37:58,320
EACH OTHER'S EFFORTS,

2663
01:37:58,320 --> 01:38:00,240
COLLABORATING TO ADDRESS SOME OF

2664
01:38:00,240 --> 01:38:02,760
THESE COMMON CHALLENGES.

2665
01:38:02,760 --> 01:38:05,160
SOME EXAMPLES INCLUDE THE FACT

2666
01:38:05,160 --> 01:38:06,800
THAT MANY RESEARCH STUDY SITES

2667
01:38:06,800 --> 01:38:09,040
DON'T HAVE RESOURCES FOR

2668
01:38:09,040 --> 01:38:12,040
TRANSLATION DURING VISITS OR FOR

2669
01:38:12,040 --> 01:38:13,760
TRANSLATING DOCUMENTS.

2670
01:38:13,760 --> 01:38:14,880
UNDERSTANDING THAT

2671
01:38:14,880 --> 01:38:16,200
INTERSECTIONALITY IN RARE

2672
01:38:16,200 --> 01:38:18,920
DISEASE, AND ALSO DIVERSITY

2673
01:38:18,920 --> 01:38:20,560
AMONG SCIENTIFIC WORKFORCE ARE

2674
01:38:20,560 --> 01:38:21,960
ALL UNIVERSAL ISSUES THAT CAN BE

2675
01:38:21,960 --> 01:38:26,520
ADDRESSED BY A WIDE NUMBER OF

2676
01:38:26,520 --> 01:38:27,560
DIFFERENT PLACES AND

2677
01:38:27,560 --> 01:38:28,960
ORGANIZATIONS.

2678
01:38:28,960 --> 01:38:33,600
BASED ON DISCUSSIONS WITH RDCRN

2679
01:38:33,600 --> 01:38:34,600
LEADERSHIP NEED FOR

2680
01:38:34,600 --> 01:38:36,520
COLLABORATION BECAME CLEAR, THAT

2681
01:38:36,520 --> 01:38:38,840
LED TO CREATION OF THE DIVERSITY

2682
01:38:38,840 --> 01:38:39,160
COMMITTEE.

2683
01:38:39,160 --> 01:38:43,240
NOW I'M GOING TO HAND IT OVER TO

2684
01:38:43,240 --> 01:38:43,760
TRACY.

2685
01:38:43,760 --> 01:38:45,360
>> THANKS, NICOLE.

2686
01:38:45,360 --> 01:38:48,240
I'M TRACY KING, I'M A MEMORIAL

2687
01:38:48,240 --> 01:38:54,840
OFFICER AT THE EUNICE KENNEDY

2688
01:38:54,840 --> 01:38:55,880
SHRIVER INSTITUTE, NICHD.

2689
01:38:55,880 --> 01:38:59,360
I'LL TALK ABOUT HOW WE SCALED UP

2690
01:38:59,360 --> 01:39:02,000
SOME PRINCIPLES FROM THE IND

2691
01:39:02,000 --> 01:39:02,520
DIVERSITY COMMITTEE.

2692
01:39:02,520 --> 01:39:05,240
FIRST A LITTLE BIT OF BACKGROUND

2693
01:39:05,240 --> 01:39:07,480
ABOUT THE RARE DISEASES CLINICAL

2694
01:39:07,480 --> 01:39:11,400
RESEARCH NETWORK, YOU MAY BE

2695
01:39:11,400 --> 01:39:13,360
FAMILIAR WITH THE RDCRN, WE MADE

2696
01:39:13,360 --> 01:39:15,680
UP OF 20 TEAMS, COLLABORATING TO

2697
01:39:15,680 --> 01:39:16,640
ADVANCE RESEARCH AND CLINICAL

2698
01:39:16,640 --> 01:39:19,480
CARE FOR SPECIFIC GROUPS OF RARE

2699
01:39:19,480 --> 01:39:19,840
DISEASES.

2700
01:39:19,840 --> 01:39:23,880
EACH CONSORTIUM IS A PARTNERSHIP

2701
01:39:23,880 --> 01:39:25,280
BETWEEN RESEARCHERS, CLINICIANS,

2702
01:39:25,280 --> 01:39:27,360
PATIENTS, PATIENT ADVOCACY

2703
01:39:27,360 --> 01:39:29,440
GROUPS, THE NIH.

2704
01:39:29,440 --> 01:39:31,760
YOU'VE HEARD FROM NICOLE

2705
01:39:31,760 --> 01:39:32,800
INHERITED NEURON CONSORTIUM, IS

2706
01:39:32,800 --> 01:39:37,320
ONE OF THE 20 TEAMS THAT MAKES

2707
01:39:37,320 --> 01:39:40,560
UP THE NETWORK.

2708
01:39:40,560 --> 01:39:41,360
SINCE LAUNCHING THE RDCRN

2709
01:39:41,360 --> 01:39:43,960
DIVERSITY COMMITTEE LAST YEAR WE

2710
01:39:43,960 --> 01:39:46,680
MODELS ASPECTS AFTER THE INC

2711
01:39:46,680 --> 01:39:49,880
EFFORTS, TRIED TO SET

2712
01:39:49,880 --> 01:39:52,160
EXPECTATION TO BE A WELCOMING

2713
01:39:52,160 --> 01:39:53,680
AND FRIENDLY PLACE TO SHARE,

2714
01:39:53,680 --> 01:39:54,880
IMPRESSED HOW MANY GROUPS HAVE

2715
01:39:54,880 --> 01:39:57,120
BEEN EAGER TO SHARE EXPERIENCES

2716
01:39:57,120 --> 01:39:58,800
AROUND THE D.E.I.A AND WITHIN

2717
01:39:58,800 --> 01:40:00,800
JUST A FEW CALLS IT'S BECOME

2718
01:40:00,800 --> 01:40:02,960
CLEAR THAT MANY RARE DISEASE

2719
01:40:02,960 --> 01:40:03,920
CONSORTIA ARE GRAPPLING WITH

2720
01:40:03,920 --> 01:40:06,320
SIMILAR ISSUES.

2721
01:40:06,320 --> 01:40:07,800
FOR EXAMPLE, ONE COMMON THEME

2722
01:40:07,800 --> 01:40:09,680
THAT EMERGED IS NEED FOR

2723
01:40:09,680 --> 01:40:11,080
BASELINE DATA.

2724
01:40:11,080 --> 01:40:24,600
THIS REALLY ECHOES ONE OF OR  

2725
01:40:24,600 --> 01:40:28,520
DR. LANGFORD'S POINT.

2726
01:40:28,520 --> 01:40:31,160
HOW THESE DISTRIBUTIONS COMPARE

2727
01:40:31,160 --> 01:40:33,120
TO RARELY AND ETHNIC OF THOSE

2728
01:40:33,120 --> 01:40:34,480
WHO CONSENT, AS WELL AS

2729
01:40:34,480 --> 01:40:37,280
DISTRIBUTION OF INDIVIDUALS WHO

2730
01:40:37,280 --> 01:40:38,480
ARE RETAINED IN LONGITUDINAL

2731
01:40:38,480 --> 01:40:39,880
RESEARCH STUDIES COMPARED TO

2732
01:40:39,880 --> 01:40:41,560
THOSE WHO DROP OUT.

2733
01:40:41,560 --> 01:40:43,640
MANY GROUPS ARE REALIZING THEY

2734
01:40:43,640 --> 01:40:45,200
NEED BETTER BASELINE DATA ON THE

2735
01:40:45,200 --> 01:40:48,520
RACIAL AND ETHNIC MAKEUP OF

2736
01:40:48,520 --> 01:40:50,160
THEIR WORKFORCE, INCLUDING

2737
01:40:50,160 --> 01:40:51,600
INVESTIGATORS, STAFF, TRAINEES.

2738
01:40:51,600 --> 01:40:53,320
AS WELL AS MAKEUP OF PATIENT

2739
01:40:53,320 --> 01:40:55,480
ADVOCACY GROUPS OFTEN THE FIRST

2740
01:40:55,480 --> 01:40:56,920
LINE PARTNERS IN RECRUITING

2741
01:40:56,920 --> 01:41:01,360
INDIVIDUALS WITH RARE DISEASES 

2742
01:41:01,360 --> 01:41:02,960
TO PARTICIPATE IN RESEARCH.

2743
01:41:02,960 --> 01:41:04,680
WE'VE BEEN IMPRESSED BY HOW MANY

2744
01:41:04,680 --> 01:41:05,880
ITEMS OF INTEREST PEOPLE HAVE

2745
01:41:05,880 --> 01:41:08,120
SHARED WITH US TO PASS ON TO

2746
01:41:08,120 --> 01:41:09,720
LARGER RARE DISEASE COMMUNITY.

2747
01:41:09,720 --> 01:41:12,360
WE'VE CREATED A SECTION OF

2748
01:41:12,360 --> 01:41:14,520
MEETINGS CALLED NUGGETS, TO

2749
01:41:14,520 --> 01:41:16,400
SHARE ITEMS LIKE THIS MORE

2750
01:41:16,400 --> 01:41:16,640
BROADLY.

2751
01:41:16,640 --> 01:41:18,280
AND THEY OFTEN HAVEN'T BEEN

2752
01:41:18,280 --> 01:41:19,800
RESEARCH RELATED.

2753
01:41:19,800 --> 01:41:21,520
FOR EXAMPLE, ONE RECENT NUGGET

2754
01:41:21,520 --> 01:41:23,160
WAS A BLOG POST, AT THE LINK

2755
01:41:23,160 --> 01:41:26,080
SHOWN HERE, ABOUT THE IMPORTANCE

2756
01:41:26,080 --> 01:41:27,880
OF DIVERSITY IN MEDICAL

2757
01:41:27,880 --> 01:41:28,640
ILLUSTRATIONS INCLUDING THIS

2758
01:41:28,640 --> 01:41:29,840
ILLUSTRATION DEPICTING A LATE

2759
01:41:29,840 --> 01:41:31,600
STAGE OF PREGNANCY.

2760
01:41:31,600 --> 01:41:34,080
THERE'S NOTHING REMARKABLE ABOUT

2761
01:41:34,080 --> 01:41:42,240
THE ANATOMY BEING SHOWN BUT IT 

2762
01:41:42,240 --> 01:41:43,400
GARNERED ATTENTION, MOST HAD

2763
01:41:43,400 --> 01:41:44,680
NEVER SEEN DEPICTING WITH DARK

2764
01:41:44,680 --> 01:41:44,880
SKIN.

2765
01:41:44,880 --> 01:41:46,200
IN THINKING HOW TO ADVANCE

2766
01:41:46,200 --> 01:41:49,840
EFFORTS WE FOUND THAT PEOPLE'S

2767
01:41:49,840 --> 01:41:50,600
INTERESTS NATURALLY COALESCED

2768
01:41:50,600 --> 01:41:53,000
AROUND THREE TOPICS.

2769
01:41:53,000 --> 01:41:54,840
FIRST, WEBINAR SERIES ABOUT

2770
01:41:54,840 --> 01:41:55,840
DIVERSITY ISSUES SPECIFIC TO

2771
01:41:55,840 --> 01:41:59,240
RARE DISEASES AND RARE DISEASE

2772
01:41:59,240 --> 01:41:59,480
RESEARCH.

2773
01:41:59,480 --> 01:42:00,760
SECOND, GROUP FOCUSED ON

2774
01:42:00,760 --> 01:42:03,160
IMPROVING DIVERSITY AMONG RARE

2775
01:42:03,160 --> 01:42:04,800
DISEASE RESEARCH PARTICIPANTS

2776
01:42:04,800 --> 01:42:05,560
AND ADVOCATES.

2777
01:42:05,560 --> 01:42:07,720
THIRD, IMPROVING DIVERSITY OF

2778
01:42:07,720 --> 01:42:09,600
THE RARE DISEASE SCIENTIFIC

2779
01:42:09,600 --> 01:42:10,000
WORKFORCE.

2780
01:42:10,000 --> 01:42:12,120
THE RECOGNITION OF THE

2781
01:42:12,120 --> 01:42:14,520
IMPORTANCE OF BOTH PARTICIPANT

2782
01:42:14,520 --> 01:42:15,320
AND WORKFORCE DIVERSITY MIRRORS

2783
01:42:15,320 --> 01:42:19,680
STRUCTURE OF MANY OF THE OTHER

2784
01:42:19,680 --> 01:42:23,800
D.E.I.A EFFORTS IN TODAY'S PANEL

2785
01:42:23,800 --> 01:42:26,680
INCLUDING MY OTHER CO-SPEAKERS

2786
01:42:26,680 --> 01:42:29,840
IN THE PANEL, THE INC, MY

2787
01:42:29,840 --> 01:42:34,640
INSTITUTE NICHD AND AS YOU HEARD

2788
01:42:34,640 --> 01:42:35,360
FROM VENCE BONHAM NIH-WIDE

2789
01:42:35,360 --> 01:42:38,800
EFFORTS AS PART OF THE UNITE

2790
01:42:38,800 --> 01:42:39,160
INITIATIVE.

2791
01:42:39,160 --> 01:42:42,080
A FEW OBSERVATIONS ABOUT WHAT'S

2792
01:42:42,080 --> 01:42:42,920
GONE WELL SO FAR.

2793
01:42:42,920 --> 01:42:44,680
IT'S BEEN VALUABLE TO HAVE

2794
01:42:44,680 --> 01:42:45,520
COMMITTEE MEMBERS AND LEADERS

2795
01:42:45,520 --> 01:42:47,640
WITH A VARIETY OF BACKGROUNDS

2796
01:42:47,640 --> 01:42:48,880
AND LEVELS OF PROFESSIONAL

2797
01:42:48,880 --> 01:42:49,200
EXPERIENCE.

2798
01:42:49,200 --> 01:42:51,520
HAVING PEOPLE IN MORE FRONTLINE

2799
01:42:51,520 --> 01:42:53,480
PORTIONS LIKE NICOLE SHARE

2800
01:42:53,480 --> 01:42:54,200
EXPERIENCES AND ALLOWING

2801
01:42:54,200 --> 01:42:57,240
EXPERIENCES TO GUIDE THE GROUP'S

2802
01:42:57,240 --> 01:42:58,400
EFFORTS HAS GIVEN A GRASSROOTS

2803
01:42:58,400 --> 01:42:59,720
FEEL AND WE BELIEVE CONTRIBUTED

2804
01:42:59,720 --> 01:43:02,680
TO A HIGH LEVEL OF ENGAGEMENT

2805
01:43:02,680 --> 01:43:04,080
AMONG GROUP MEMBERS.

2806
01:43:04,080 --> 01:43:06,400
HAVING A NUGGET SESSION HAS BEEN

2807
01:43:06,400 --> 01:43:09,320
A USEFUL WAY TO SHARE

2808
01:43:09,320 --> 01:43:10,240
INFORMATION THAT MIGHT NOT FIT

2809
01:43:10,240 --> 01:43:11,960
INTO THE STRUCTURE OF A TYPICAL

2810
01:43:11,960 --> 01:43:13,160
RESEARCH CALL.

2811
01:43:13,160 --> 01:43:15,120
AS WE MENTIONED WE'VE BEEN

2812
01:43:15,120 --> 01:43:17,120
STRUCK HOW QUICKLY COMMON THEMES

2813
01:43:17,120 --> 01:43:19,520
HAVE BEEN EMERGING, SUCH AS NEED

2814
01:43:19,520 --> 01:43:21,600
TO ACCOMMODATE PARTICIPANTS

2815
01:43:21,600 --> 01:43:23,880
WHOSE PRIMARY LANGUAGE IS NOT

2816
01:43:23,880 --> 01:43:24,480
ENGLISH.

2817
01:43:24,480 --> 01:43:27,440
MANY OF THE THEMES ARE SPECIFIC

2818
01:43:27,440 --> 01:43:28,640
AND ACTIONABLE.

2819
01:43:28,640 --> 01:43:29,880
WE WANT TO ACKNOWLEDGE THAT

2820
01:43:29,880 --> 01:43:34,520
DOESN'T MEAN THEY ARE EASY.

2821
01:43:34,520 --> 01:43:42,080
AT THE SAME TIME OUR GROUP HAS 

2822
01:43:42,080 --> 01:43:44,800
FACED CHALLENGES, WITH AN EBB

2823
01:43:44,800 --> 01:43:46,720
AND FLOW, WE'VE FOUND THIS

2824
01:43:46,720 --> 01:43:48,360
VARYING CADENCE HAS ALWAYS

2825
01:43:48,360 --> 01:43:49,480
ALIGNED WITH EXPECTATIONS OF

2826
01:43:49,480 --> 01:43:51,520
PEOPLE USED TO GROUPS COMPRISED

2827
01:43:51,520 --> 01:43:53,400
OF PEOPLE IN LEADERSHIP

2828
01:43:53,400 --> 01:43:55,240
POSITIONS AND WE'VE FOUND

2829
01:43:55,240 --> 01:43:57,000
OURSELVES PUSHING BACK AGAINST

2830
01:43:57,000 --> 01:44:00,960
CRITICISMS THE GROUP IS LOSING

2831
01:44:00,960 --> 01:44:01,760
MOMENTUM, SLOWING THINGS DOWN

2832
01:44:01,760 --> 01:44:03,240
HAS OPENED THE DOOR TO GREATER

2833
01:44:03,240 --> 01:44:05,440
PARTICIPATION BY THOSE NOT IN

2834
01:44:05,440 --> 01:44:06,400
TRADITIONAL LEADERSHIP ROLES.

2835
01:44:06,400 --> 01:44:07,720
WE'VE TRIED TO BE INTENTIONAL

2836
01:44:07,720 --> 01:44:09,160
AND WELCOMING PEOPLE FROM A

2837
01:44:09,160 --> 01:44:10,240
RANGE OF POSITIONS AND

2838
01:44:10,240 --> 01:44:11,320
BACKGROUNDS WE HAVE TO

2839
01:44:11,320 --> 01:44:14,600
ACKNOWLEDGE OUR STARTING POINT

2840
01:44:14,600 --> 01:44:17,960
IS THE RDCRN, BIASED TOWARDS

2841
01:44:17,960 --> 01:44:18,480
RESOURCED INSTITUTIONS AND

2842
01:44:18,480 --> 01:44:19,880
ADVOCACY ORGANIZATIONS.

2843
01:44:19,880 --> 01:44:26,960
AND FINALLY WE WANT TO 

2844
01:44:26,960 --> 01:44:28,160
ACKNOWLEDGE OUR GOAL, WE'RE NOT

2845
01:44:28,160 --> 01:44:30,560
TRYING TO MOVE FORWARD ON ALL

2846
01:44:30,560 --> 01:44:31,680
FRONTS AT ONCE.

2847
01:44:31,680 --> 01:44:34,280
AS YOU'VE HEARD MOST DISCUSSIONS

2848
01:44:34,280 --> 01:44:36,680
HAVE FOCUSED ON THE D FOR

2849
01:44:36,680 --> 01:44:40,600
DIVERSITY OF D.E.I.A, WE HOPE TO

2850
01:44:40,600 --> 01:44:46,480
MORE DIRECTLY ADDRESS SOME OTHER

2851
01:44:46,480 --> 01:44:49,200
ASPECTS IN THE FUTURE.

2852
01:44:49,200 --> 01:44:52,160
I WANT TO CALL OUT ACCESSIBILITY

2853
01:44:52,160 --> 01:44:53,640
TO DIAGNOSIS, TREATMENT, ABILITY

2854
01:44:53,640 --> 01:44:55,080
TO PARTICIPATE IN RESEARCH.

2855
01:44:55,080 --> 01:44:57,960
WE KNOW THAT ISSUES AROUND

2856
01:44:57,960 --> 01:44:59,240
ACCESSIBILITY ARE RELEVANT TO

2857
01:44:59,240 --> 01:45:00,800
MANY OF THE RARE DISEASE

2858
01:45:00,800 --> 01:45:02,800
COMMUNITIES INVOLVED IN THE

2859
01:45:02,800 --> 01:45:06,720
RDCRN, BUT AS NICOLE AND OTHERS

2860
01:45:06,720 --> 01:45:08,680
HAVE NOTED EARLIER, THESE

2861
01:45:08,680 --> 01:45:09,880
DISABILITY IT'S AND OTHER

2862
01:45:09,880 --> 01:45:11,680
BARRIERS ARE OFTEN NOT VISIBLE.

2863
01:45:11,680 --> 01:45:13,920
AND THEREFORE MAY CALL FOR

2864
01:45:13,920 --> 01:45:15,240
DIFFERENT STRATEGIES THAN THE

2865
01:45:15,240 --> 01:45:19,200
ONES THAT ARE FOCUSED ON EFFORTS

2866
01:45:19,200 --> 01:45:21,040
TO IMPROVE DIVERSITY.

2867
01:45:21,040 --> 01:45:22,600
OUR OVERARCHING CHALLENGE HAS

2868
01:45:22,600 --> 01:45:24,960
BEEN HOW TO KEEP COMMITTEES'

2869
01:45:24,960 --> 01:45:26,400
EFFORTS FOCUSED ON MEANINGFUL

2870
01:45:26,400 --> 01:45:29,240
CHANGE OVER TIME AND ACROSS A

2871
01:45:29,240 --> 01:45:31,120
LARGE NUMBER OF COMMUNITY

2872
01:45:31,120 --> 01:45:32,280
MEMBERS AND DISEASE COMMUNITIES.

2873
01:45:32,280 --> 01:45:34,600
AND NOW I'D LIKE TO HAND IT BACK

2874
01:45:34,600 --> 01:45:36,320
TO NICOLE TO WRAP UP.

2875
01:45:36,320 --> 01:45:37,320
>> THANK YOU, TRACY.

2876
01:45:37,320 --> 01:45:39,720
WE WANT TO POINT OUT DOs AND

2877
01:45:39,720 --> 01:45:41,240
DON'TS TO HELP GUIDE US THROUGH

2878
01:45:41,240 --> 01:45:44,080
THE GROWTH OF OUR TWO

2879
01:45:44,080 --> 01:45:44,640
COMMITTEES.

2880
01:45:44,640 --> 01:45:46,960
THIS ARTICLE FROM THE HARVARD

2881
01:45:46,960 --> 01:45:48,080
BUSINESS REVIEW HAS A RESEARCH

2882
01:45:48,080 --> 01:45:49,240
BASED TABLE THAT OUTLINES THINGS

2883
01:45:49,240 --> 01:45:51,120
THAT WORK AND DON'T WORK.

2884
01:45:51,120 --> 01:45:52,760
IN GENERAL RULES AND MANDATES

2885
01:45:52,760 --> 01:45:54,400
REGARDING DIVERSITY SHOULD BE

2886
01:45:54,400 --> 01:45:57,000
USED WITH CAUTION, AND SOMETIMES

2887
01:45:57,000 --> 01:45:59,000
THEY BACKFIRE COMPLETELY.

2888
01:45:59,000 --> 01:46:00,640
KEEPING THINGS VOLUNTARY,

2889
01:46:00,640 --> 01:46:02,360
FLEXIBLE, PROVIDING SUPPORT AND

2890
01:46:02,360 --> 01:46:03,360
TRAINING WITH SOCIAL

2891
01:46:03,360 --> 01:46:04,880
ACCOUNTABILITY ARE THE VALUES

2892
01:46:04,880 --> 01:46:06,480
THAT HAVE INFORMED THE

2893
01:46:06,480 --> 01:46:08,080
APPROACHES IN OUR COMMITTEES.

2894
01:46:08,080 --> 01:46:11,000
WE WANT TO CIRCLE BACK TO SOME

2895
01:46:11,000 --> 01:46:16,360
KEY POINTS FROM OTHER 

2896
01:46:16,360 --> 01:46:16,920
PRESENTATIONS, UNDERSTANDING

2897
01:46:16,920 --> 01:46:18,560
INTERSECTIONALITY IS REALLY

2898
01:46:18,560 --> 01:46:20,080
IMPORTANT TO RECOGNIZE UNIQUE

2899
01:46:20,080 --> 01:46:21,480
CHALLENGES THAT INDIVIDUALS AND

2900
01:46:21,480 --> 01:46:23,480
FAMILIES AFFECTED BY RARE

2901
01:46:23,480 --> 01:46:25,760
DISEASE AND THOSE WHO ARE ALSO

2902
01:46:25,760 --> 01:46:28,280
PART OF A MARGINALIZED COMMUNITY

2903
01:46:28,280 --> 01:46:29,600
MAY FACE.

2904
01:46:29,600 --> 01:46:31,800
ADDRESSING CHALLENGES REALLY

2905
01:46:31,800 --> 01:46:32,560
REQUIRES AN INTENTIONAL

2906
01:46:32,560 --> 01:46:34,280
APPROACH, INCLUDING PERSONS WITH

2907
01:46:34,280 --> 01:46:36,480
RARE DISEASE IN ALL STAGES OF

2908
01:46:36,480 --> 01:46:38,480
PLANNING, ENSURING ALL ELIGIBLE

2909
01:46:38,480 --> 01:46:41,640
PATIENTS ARE INVITED TO JOIN

2910
01:46:41,640 --> 01:46:43,040
RESEARCH STUDIES WHEN AVAILABLE

2911
01:46:43,040 --> 01:46:44,640
ARE TWO EXAMPLES.

2912
01:46:44,640 --> 01:46:47,120
FOSTERING DIVERSITY IN THE

2913
01:46:47,120 --> 01:46:48,480
WORKFORCE IS CRITICAL.

2914
01:46:48,480 --> 01:46:49,880
SCIENTISTS AND CLINICIANS ARE

2915
01:46:49,880 --> 01:46:51,280
ABLE TO BRING UNIQUE

2916
01:46:51,280 --> 01:46:53,480
PERSPECTIVES AND DRAW ON THEIR

2917
01:46:53,480 --> 01:46:55,840
LIVED EXPERIENCES TO CULTIVATE

2918
01:46:55,840 --> 01:46:57,000
SOLUTIONS TO LONGSTANDING

2919
01:46:57,000 --> 01:46:57,600
BARRIERS.

2920
01:46:57,600 --> 01:47:00,040
SO, LAST THING BEFORE WE GO WE

2921
01:47:00,040 --> 01:47:01,240
HAVE A CHALLENGE FOR EVERYONE.

2922
01:47:01,240 --> 01:47:04,400
WHAT CAN YOU DO RIGHT NOW TO

2923
01:47:04,400 --> 01:47:06,200
MAKE YOUR WORK MORE DIVERSE,

2924
01:47:06,200 --> 01:47:08,080
INCLUSIVE, EQUITABLE, AND/OR

2925
01:47:08,080 --> 01:47:08,400
ACCESSIBLE?

2926
01:47:08,400 --> 01:47:12,200
WE WOULD LOVE TO HEAR YOUR

2927
01:47:12,200 --> 01:47:16,160
EXPERIENCES, ANY THOUGHTS, 

2928
01:47:16,160 --> 01:47:18,080
CONCERNS, FEEDBACK ABOUT OUR

2929
01:47:18,080 --> 01:47:19,040
APPROACHES, NUGGETS,

2930
01:47:19,040 --> 01:47:19,960
SUGGESTIONS, ANYTHING ABOUT YOUR

2931
01:47:19,960 --> 01:47:20,960
OWN EXPERIENCES WITH GETTING

2932
01:47:20,960 --> 01:47:23,040
YOUR D.E.I.A EFFORTS STARTED OR

2933
01:47:23,040 --> 01:47:24,320
KEEPING THEM GOING.

2934
01:47:24,320 --> 01:47:25,760
WE'VE GOT OUR E-MAIL ADDRESSES

2935
01:47:25,760 --> 01:47:27,680
THERE AT THE BOTTOM OF THE SLIDE

2936
01:47:27,680 --> 01:47:28,800
AND WE WOULD ABSOLUTELY LOVE TO

2937
01:47:28,800 --> 01:47:35,480
HEAR FROM YOU. 

2938
01:47:35,480 --> 01:47:43,600
THANK YOU FOR LISTENING.

2939
01:47:43,600 --> 01:47:48,800
 

2940
01:47:48,800 --> 01:47:53,480
>> I WANT TO THANK THE

2941
01:47:53,480 --> 01:47:54,000
PANELISTS.

2942
01:47:54,000 --> 01:47:56,240
WE HAVE ABOUT TEN MINUTES FOR A

2943
01:47:56,240 --> 01:47:57,600
CONVERSATION AND Q&A.

2944
01:47:57,600 --> 01:47:59,280
I'M GOING TO START WITH YOU,

2945
01:47:59,280 --> 01:48:01,040
MICHELE, WITH A QUESTION.

2946
01:48:01,040 --> 01:48:04,280
CAN YOU TALK ABOUT WHAT IS THE

2947
01:48:04,280 --> 01:48:05,960
GENETIC COUNSELING FIELD, WHAT

2948
01:48:05,960 --> 01:48:07,040
THEY ARE DOING TO INCREASE

2949
01:48:07,040 --> 01:48:10,960
DIVERSITY IN THE GENETIC

2950
01:48:10,960 --> 01:48:11,440
COUNSELING WORKFORCE?

2951
01:48:11,440 --> 01:48:17,640
>> SO, ON THE SIDE OF EDUCATION,

2952
01:48:17,640 --> 01:48:23,120
PROGRAMS ARE TRYING TO HAVE MORE

2953
01:48:23,120 --> 01:48:27,240
HOLISTIC APPLICATION PROCESSES,

2954
01:48:27,240 --> 01:48:29,320
WHICH WILL HOPEFULLY ALLOW FOR

2955
01:48:29,320 --> 01:48:30,880
MORE CANDIDATES OF DIVERSE

2956
01:48:30,880 --> 01:48:32,920
BACKGROUNDS TO MAKE IT THROUGH

2957
01:48:32,920 --> 01:48:35,600
TO ACTUALLY BEING ACCEPTED TO

2958
01:48:35,600 --> 01:48:37,640
BEING MATCHED TO PROGRAMS.

2959
01:48:37,640 --> 01:48:38,640
THE MINORITY GENETIC

2960
01:48:38,640 --> 01:48:40,360
PROFESSIONALS NETWORK FOR OUR

2961
01:48:40,360 --> 01:48:42,640
PART WE HAVE A CAREER FAIR THAT

2962
01:48:42,640 --> 01:48:44,080
WE'VE DONE FOR THE LAST TWO

2963
01:48:44,080 --> 01:48:44,680
YEARS.

2964
01:48:44,680 --> 01:48:48,680
IT'S OPEN TO ALL PROSPECTIVE

2965
01:48:48,680 --> 01:48:54,240
STUDENTS BUT WE DO TARGET OUR

2966
01:48:54,240 --> 01:48:55,560
MARKETING TOWARDS ORGANIZATIONS

2967
01:48:55,560 --> 01:48:58,720
THAT SERVE STUDENTS OF COLOR,

2968
01:48:58,720 --> 01:49:03,200
AND SO THAT'S A WAY TO EXPAND

2969
01:49:03,200 --> 01:49:04,960
THE POOL OF DIVERSE APPLICANTS.

2970
01:49:04,960 --> 01:49:08,040
AND THEN ONCE THE STUDENTS ARE

2971
01:49:08,040 --> 01:49:12,600
IN THE PROGRAMS, MGPN HAS A

2972
01:49:12,600 --> 01:49:13,880
MENTORING PROGRAM THAT HELPS

2973
01:49:13,880 --> 01:49:15,480
STUDENTS TO HAVE MORE SUPPORT

2974
01:49:15,480 --> 01:49:17,480
THROUGH THE PROCESS OF GOING

2975
01:49:17,480 --> 01:49:19,080
THROUGH GRADUATE SCHOOL BECAUSE

2976
01:49:19,080 --> 01:49:21,040
VERY OFTEN THEY MAY BE THE ONLY

2977
01:49:21,040 --> 01:49:31,880
STUDENT OF COLOR OLOR IN THEIR

2978
01:49:31,880 --> 01:49:32,120
PROGRAM.

2979
01:49:32,120 --> 01:49:35,400
THE MENTORING PROGRAM IS HELPING

2980
01:49:35,400 --> 01:49:36,240
WITH PROSPECTIVE STUDENTS,

2981
01:49:36,240 --> 01:49:37,360
HELPING WITH INTERVIEW PREP,

2982
01:49:37,360 --> 01:49:38,680
THINGS LIKE THAT.

2983
01:49:38,680 --> 01:49:39,160
>> THANK YOU.

2984
01:49:39,160 --> 01:49:42,400
>> TO GET THEM THROUGH THE

2985
01:49:42,400 --> 01:49:43,160
PROCESS.

2986
01:49:43,160 --> 01:49:43,680
>> GREAT.

2987
01:49:43,680 --> 01:49:45,200
THANK YOU FOR YOUR COMMENTS.

2988
01:49:45,200 --> 01:49:47,480
AND I WANT TO JUST GO BACK TO

2989
01:49:47,480 --> 01:49:50,080
SOME OF THE THINGS YOU WERE

2990
01:49:50,080 --> 01:49:51,760
TALKING ABOUT, AND YOU TALKED

2991
01:49:51,760 --> 01:49:53,920
ABOUT THE NEED TO THINK ABOUT AN

2992
01:49:53,920 --> 01:49:55,360
INDIVIDUAL'S IDENTITY.

2993
01:49:55,360 --> 01:49:57,800
CAN YOU EXPLORE FOR JUST A

2994
01:49:57,800 --> 01:50:00,840
MOMENT MORE FOR HEALTH CARE

2995
01:50:00,840 --> 01:50:04,160
PROVIDERS THE DANGERS OF MAKING

2996
01:50:04,160 --> 01:50:06,480
IDENTITY ASSUMPTIONS ABOUT THEIR

2997
01:50:06,480 --> 01:50:08,520
PATIENTS WITH RARE DISEASES.

2998
01:50:08,520 --> 01:50:09,400
>> YES.

2999
01:50:09,400 --> 01:50:10,160
ABSOLUTELY.

3000
01:50:10,160 --> 01:50:11,360
THAT'S A TERRIFIC QUESTION.

3001
01:50:11,360 --> 01:50:15,160
SO, AS A CASE EXAMPLE, I WOULD

3002
01:50:15,160 --> 01:50:19,480
REFER FOLKS TO THE STORY THAT IS

3003
01:50:19,480 --> 01:50:22,240
NOW DOCUMENTED ON FILM, 54 YEARS

3004
01:50:22,240 --> 01:50:25,160
LATER, THE JOURNEY OF MY FRIEND

3005
01:50:25,160 --> 01:50:28,760
TERRY WRIGHT, IS HIS LATE 50s

3006
01:50:28,760 --> 01:50:29,600
LIVING WITH CYSTIC FIBROSIS,

3007
01:50:29,600 --> 01:50:32,520
TERRY IS AFRICAN AMERICAN.

3008
01:50:32,520 --> 01:50:34,720
AND LIKE MANY, AFRICAN AMERICAN

3009
01:50:34,720 --> 01:50:37,080
AND GENERALLY BLACK PEOPLE

3010
01:50:37,080 --> 01:50:39,280
LIVING WITH CF, DOCTORS DISMISS

3011
01:50:39,280 --> 01:50:41,880
THE IDEA THAT TERRY COULD EVEN

3012
01:50:41,880 --> 01:50:43,400
POTENTIALLY HAVE C F, EVEN

3013
01:50:43,400 --> 01:50:45,040
THOUGH, LIKE ME, HE WAS FAIRLY

3014
01:50:45,040 --> 01:50:47,200
TEXT BOOK FROM THE TIME HE WAS

3015
01:50:47,200 --> 01:50:47,960
LITTLE.

3016
01:50:47,960 --> 01:50:49,920
I GOT MY FIRST TEST FOR CF AT

3017
01:50:49,920 --> 01:50:50,680
AGE 4.

3018
01:50:50,680 --> 01:50:51,560
THEY COULDN'T GET ENOUGH SWEAT

3019
01:50:51,560 --> 01:50:53,760
OFF OF ME TO GET A VALID SAMPLE

3020
01:50:53,760 --> 01:50:56,480
BUT AT LEAST BECAUSE I'M SO

3021
01:50:56,480 --> 01:50:59,280
LIGHT SKINNED PEOPLE THOUGHT

3022
01:50:59,280 --> 01:51:03,040
THAT, HEY, REGARDLESS OF

3023
01:51:03,040 --> 01:51:04,120
CULTURAL OR ETHNIC BACKGROUND CF

3024
01:51:04,120 --> 01:51:04,880
IS A POSSIBILITY.

3025
01:51:04,880 --> 01:51:08,080
THERE ARE A LOT OF PEOPLE OF

3026
01:51:08,080 --> 01:51:08,560
COLOR, ESPECIALLY BLACK

3027
01:51:08,560 --> 01:51:11,000
AMERICANS, WHO HAVE DIED FROM CF

3028
01:51:11,000 --> 01:51:14,840
AND OTHER RARE DISEASES BECAUSE

3029
01:51:14,840 --> 01:51:18,000
OF BEING LESS CENSORED OUT OF

3030
01:51:18,000 --> 01:51:19,760
THE POTENTIAL TREATMENT POOL

3031
01:51:19,760 --> 01:51:21,640
BECAUSE IT WAS DEEMED

3032
01:51:21,640 --> 01:51:23,160
IMPLAUSIBLE THEY COULD HAVE A

3033
01:51:23,160 --> 01:51:23,840
DISEASE THEY WERE CLEARLY

3034
01:51:23,840 --> 01:51:25,560
EXPERIENCING.

3035
01:51:25,560 --> 01:51:29,160
IF YOU HAVEN'T SEEN "54 YEARS

3036
01:51:29,160 --> 01:51:31,560
LATER" I COMMEND THAT TO YOU AND

3037
01:51:31,560 --> 01:51:35,240
RESOURCES BY THE NATIONAL

3038
01:51:35,240 --> 01:51:41,280
ASSOCIATION  WHICH TERRY AND DR.

3039
01:51:41,280 --> 01:51:46,160
WRIGHT HELPED START, CAREFUL NOT

3040
01:51:46,160 --> 01:51:46,920
TO MAKE ASSUMPTION.

3041
01:51:46,920 --> 01:51:48,680
IF YOU SEE EVIDENCE SOMEONE IS

3042
01:51:48,680 --> 01:51:51,400
SUFFERING LEAN INTO THAT, INTO

3043
01:51:51,400 --> 01:51:52,840
THE LIVED EXPERIENCE ON WHICH

3044
01:51:52,840 --> 01:51:55,080
NOBODY CAN INFORM YOU BETTER

3045
01:51:55,080 --> 01:51:58,400
THAN THE PERSON THEMSELVES.

3046
01:51:58,400 --> 01:51:58,960
>> THANK YOU.

3047
01:51:58,960 --> 01:52:02,480
AISHA, BASED ON ALL YOUR

3048
01:52:02,480 --> 01:52:04,880
RESEARCH AROUND ENGAGEMENT AND

3049
01:52:04,880 --> 01:52:05,840
PARTICIPATION OF INDIVIDUALS IN

3050
01:52:05,840 --> 01:52:07,880
CLINICAL TRIALS, CAN YOU TELL ME

3051
01:52:07,880 --> 01:52:11,160
WHAT ARE SOME MYTHS REGARDING

3052
01:52:11,160 --> 01:52:12,880
UNDERREPRESENTED POPULATIONS

3053
01:52:12,880 --> 01:52:14,040
PARTICIPATING IN CLINICAL

3054
01:52:14,040 --> 01:52:14,360
TRIALS?

3055
01:52:14,360 --> 01:52:16,440
>> I WOULD SAY FIRST MYTH IS

3056
01:52:16,440 --> 01:52:18,280
THAT RACIAL AND ETHNIC

3057
01:52:18,280 --> 01:52:19,680
MINORITIES AREN'T INTERESTED AND

3058
01:52:19,680 --> 01:52:22,480
THEY ARE ALL MISTRUSTFUL.

3059
01:52:22,480 --> 01:52:23,760
I HEAR THAT NARRATIVE

3060
01:52:23,760 --> 01:52:25,720
PERPETUATED A LOT, ACTUALLY IN

3061
01:52:25,720 --> 01:52:26,520
THE LITERATURE, ALSO HEARD

3062
01:52:26,520 --> 01:52:28,480
MEDICAL STUDENTS SAY THAT.

3063
01:52:28,480 --> 01:52:30,760
I THINK ALTHOUGH WELL INTENDED

3064
01:52:30,760 --> 01:52:33,480
IT'S PARTLY BECAUSE WE TALK

3065
01:52:33,480 --> 01:52:35,800
ABOUT PAST ABUSES IN RESEARCH

3066
01:52:35,800 --> 01:52:37,840
LIKE TUSKEGEE FOR EXAMPLE, AND

3067
01:52:37,840 --> 01:52:38,920
HENRIETTA LACKS CASE WHICH MANY

3068
01:52:38,920 --> 01:52:40,160
PEOPLE ARE FAMILIAR WITH.

3069
01:52:40,160 --> 01:52:43,000
THOSE ARE REALLY IMPORTANT

3070
01:52:43,000 --> 01:52:47,160
CASES, AND TIME POINTS, BUT I

3071
01:52:47,160 --> 01:52:49,440
THINK PEOPLE IN 2022 STILL CARE

3072
01:52:49,440 --> 01:52:52,600
ABOUT HEALTH.

3073
01:52:52,600 --> 01:52:55,200
THEY UNDERSTAND THAT IRBs AND

3074
01:52:55,200 --> 01:52:57,280
ETHICS AND HOW WE APPROACH

3075
01:52:57,280 --> 01:52:58,680
CLINICAL RESEARCH IS DIFFERENT

3076
01:52:58,680 --> 01:53:00,560
THAN IT WAS A HUNDRED YEARS AGO,

3077
01:53:00,560 --> 01:53:02,560
FIFTY YEARS AGO, IT'S NOT

3078
01:53:02,560 --> 01:53:04,080
PERFECT BUT THERE'S MORE

3079
01:53:04,080 --> 01:53:04,920
SAFEGUARDS.

3080
01:53:04,920 --> 01:53:07,360
SO I ALWAYS ERR ON THE SIDE OF

3081
01:53:07,360 --> 01:53:08,120
DON'T TAKE SOMEONE'S DECISION

3082
01:53:08,120 --> 01:53:09,320
AWAY FROM THEM.

3083
01:53:09,320 --> 01:53:13,680
OUR JOB AS HEALTH CARE 

3084
01:53:13,680 --> 01:53:15,240
PROFESSIONALS IS TO SAY HERE ARE

3085
01:53:15,240 --> 01:53:17,280
YOUR OPTIONS, WE WANT TO MAKE

3086
01:53:17,280 --> 01:53:19,160
SURE PATIENTS ARE AWARE AND

3087
01:53:19,160 --> 01:53:19,840
INVITED TO PARTICIPATE IF THEY

3088
01:53:19,840 --> 01:53:20,600
WANT TO.

3089
01:53:20,600 --> 01:53:22,560
THAT SHOULD BE THE DEFAULT AND

3090
01:53:22,560 --> 01:53:23,680
STARTING POINT EVERYBODY CARES

3091
01:53:23,680 --> 01:53:25,880
ABOUT THEIR HEALTH AND THAT

3092
01:53:25,880 --> 01:53:27,080
EVERYBODY COULD POTENTIALLY BE

3093
01:53:27,080 --> 01:53:29,280
INTERESTED IF THEY ARE GIVEN THE

3094
01:53:29,280 --> 01:53:30,200
OPPORTUNITY AND CORRECT

3095
01:53:30,200 --> 01:53:35,680
INFORMATION TO MAKE THEIR OWN

3096
01:53:35,680 --> 01:53:35,960
DECISION.

3097
01:53:35,960 --> 01:53:39,200
>> LAST QUESTION TO NICOLE AND

3098
01:53:39,200 --> 01:53:40,000
TRACY TOGETHER.

3099
01:53:40,000 --> 01:53:41,800
YOU CAN SHARE YOUR PERSPECTIVES

3100
01:53:41,800 --> 01:53:43,480
ON THIS QUESTION.

3101
01:53:43,480 --> 01:53:45,680
WHAT CAN RARE DISEASE

3102
01:53:45,680 --> 01:53:47,600
RESEARCHERS AND PATIENT GROUPS

3103
01:53:47,600 --> 01:53:49,600
AND ADVOCACY GROUPS DO TO BETTER

3104
01:53:49,600 --> 01:53:51,800
SERVE AND INCLUDE AND ENGAGE

3105
01:53:51,800 --> 01:53:55,080
RARE DISEASES PATIENT FROM

3106
01:53:55,080 --> 01:53:55,960
MARGINALIZED BACKGROUNDS?

3107
01:53:55,960 --> 01:53:56,800
>> THERE ARE A LOT OF THINGS

3108
01:53:56,800 --> 01:54:03,640
THAT CAN BE DONE.

3109
01:54:03,640 --> 01:54:05,800
I THINK THAT MOST OF THE THINGS

3110
01:54:05,800 --> 01:54:07,720
WE'RE DOING CURRENTLY ARE NOT

3111
01:54:07,720 --> 01:54:17,200
NECESSARILY TIME CONSUMING OR 

3112
01:54:17,200 --> 01:54:17,680
EXPENSIVE.

3113
01:54:17,680 --> 01:54:18,280
APPROACHING PATIENTS DIRECTLY,

3114
01:54:18,280 --> 01:54:23,080
LETTING MEME KNOW -- PEOPLE KNOW

3115
01:54:23,080 --> 01:54:24,880
IT'S AN OPTION, IN THE FUTURE,

3116
01:54:24,880 --> 01:54:30,000
MAYBE IN A COUPLE YEARS WE'LL

3117
01:54:30,000 --> 01:54:31,280
HAVE A TRY, LETTING THEM KNOW

3118
01:54:31,280 --> 01:54:32,480
THAT'S A POSSIBILITY.

3119
01:54:32,480 --> 01:54:33,920
THE THINGS WE'VE DISCUSSED AND

3120
01:54:33,920 --> 01:54:37,880
HAVE STARTED WORKING ON ARE MORE

3121
01:54:37,880 --> 01:54:39,280
TARGETED MARKETING TOWARD

3122
01:54:39,280 --> 01:54:46,120
DIFFERENT COMMUNITIES, SPEAKING

3123
01:54:46,120 --> 01:54:47,480
WITH COMMUNITY LEADERS,

3124
01:54:47,480 --> 01:54:47,920
MARKETING IN DIFFERENT

3125
01:54:47,920 --> 01:54:54,040
LANGUAGES, A LOT CAN BE DONE TO

3126
01:54:54,040 --> 01:54:57,280
ENGAGE THAT ISN'T OFTEN BEING

3127
01:54:57,280 --> 01:54:58,640
DONE UNFORTUNATELY.

3128
01:54:58,640 --> 01:55:03,320
>> TRACY FOR CLOSING COMMENT.

3129
01:55:03,320 --> 01:55:05,280
>> I'LL ECHO NICOLE'S POINTS,

3130
01:55:05,280 --> 01:55:08,960
NEEDING TO DO BETTER AT OFFERING

3131
01:55:08,960 --> 01:55:09,880
PEOPLE OPPORTUNITIES.

3132
01:55:09,880 --> 01:55:13,840
I THINK WHAT I HAVE COME TO

3133
01:55:13,840 --> 01:55:17,080
APPRECIATE WORKING WITH RDCRN IS

3134
01:55:17,080 --> 01:55:19,320
JUST HOW MUCH OF A POSITION OF

3135
01:55:19,320 --> 01:55:20,880
PRIVILEGE WE'RE STARTING FROM.

3136
01:55:20,880 --> 01:55:24,840
YOU KNOW, GRANTEES TEND TO BE

3137
01:55:24,840 --> 01:55:25,280
VERY HIGHLY RESOURCED

3138
01:55:25,280 --> 01:55:26,920
ORGANIZATIONS, AND THEY TEND TO

3139
01:55:26,920 --> 01:55:31,880
BE USED TO SEEING PEOPLE WHO

3140
01:55:31,880 --> 01:55:35,880
HAVE RESOURCES TO ACCESS 

3141
01:55:35,880 --> 01:55:37,040
SERVICES THEY ARE OFFERING.

3142
01:55:37,040 --> 01:55:38,680
SAME IS TRUE FOR ADVOCACY

3143
01:55:38,680 --> 01:55:41,680
ORGANIZATIONS WE WORK WITH.

3144
01:55:41,680 --> 01:55:43,360
YOU KNOW, THERE'S INCREDIBLE

3145
01:55:43,360 --> 01:55:45,680
PASSION AND DEDICATION AMONG

3146
01:55:45,680 --> 01:55:47,640
ADVOCACY GROUPS, BUT MANY OF THE

3147
01:55:47,640 --> 01:55:50,480
GROUPS MOST ACTIVE TEND TO BE

3148
01:55:50,480 --> 01:55:53,880
HIGHLY RESOURCED AND TEND TO

3149
01:55:53,880 --> 01:55:55,160
ENGAGE PEOPLE WHO ALREADY EXIST

3150
01:55:55,160 --> 01:55:57,560
IN THEIR OWN SOCIAL CIRCLES, AND

3151
01:55:57,560 --> 01:56:01,680
I THINK THEY REALLY WANT TO DO

3152
01:56:01,680 --> 01:56:04,040
BETTER BUT WE WOULD REALLY LIKE

3153
01:56:04,040 --> 01:56:06,520
TO KIND OF GO ON THIS LEARNING

3154
01:56:06,520 --> 01:56:08,520
EXPERIENCE TOGETHER OF HOW TO DO

3155
01:56:08,520 --> 01:56:12,040
THAT BETTER, OF HOW TO EXTEND

3156
01:56:12,040 --> 01:56:13,880
BEYOND YOUR TYPICAL, YOU KNOW,

3157
01:56:13,880 --> 01:56:14,480
I'M RECRUITING THROUGH SOCIAL

3158
01:56:14,480 --> 01:56:17,280
MEDIA, TO PEOPLE WHO ARE LIKE

3159
01:56:17,280 --> 01:56:17,640
ME.

3160
01:56:17,640 --> 01:56:20,520
AND WHETHER THAT IS RELATED TO

3161
01:56:20,520 --> 01:56:22,080
SKIN COLOR, EDUCATION, INCOME,

3162
01:56:22,080 --> 01:56:24,480
GEOGRAPHY, WHATEVER THAT HAPPENS

3163
01:56:24,480 --> 01:56:25,440
TO BE.

3164
01:56:25,440 --> 01:56:28,840
BUT I HAVE BEEN REALLY, REALLY

3165
01:56:28,840 --> 01:56:31,240
INSPIRED BY JUST HOW MUCH

3166
01:56:31,240 --> 01:56:32,760
INTEREST THERE IS IN RARE

3167
01:56:32,760 --> 01:56:34,960
DISEASE COMMUNITY TO DO BETTER

3168
01:56:34,960 --> 01:56:36,920
IN THIS SPACE.

3169
01:56:36,920 --> 01:56:37,880
>> GOOD.

3170
01:56:37,880 --> 01:56:39,560
THANK YOU TO EVERYONE FOR SUCH A

3171
01:56:39,560 --> 01:56:47,160
GREAT PANEL.

3172
01:56:47,160 --> 01:56:50,000
>> I WANT TO THANK EVERYONE WHO

3173
01:56:50,000 --> 01:56:51,760
WATCHED THIS IMPORTANT

3174
01:56:51,760 --> 01:56:54,080
CONVERSATION TODAY ABOUT EQUITY,

3175
01:56:54,080 --> 01:56:55,120
DIVERSITY, WITHIN RARE DISEASE.

3176
01:56:55,120 --> 01:56:58,440
WE WANT TO CLOSE WITH SOME

3177
01:56:58,440 --> 01:57:00,720
WEBSITES FOR YOU TO GO TO FOR

3178
01:57:00,720 --> 01:57:01,800
MORE INFORMATION.

3179
01:57:01,800 --> 01:57:03,120
I START HERE.

3180
01:57:03,120 --> 01:57:05,880
IF YOU ARE DOING RESEARCH, AND

3181
01:57:05,880 --> 01:57:06,840
LOOKING FOR FUNDING

3182
01:57:06,840 --> 01:57:07,840
OPPORTUNITIES, RELATED TO

3183
01:57:07,840 --> 01:57:08,560
RESEARCH AND DIVERSITY, I

3184
01:57:08,560 --> 01:57:17,000
ENCOURAGE YOU TO GO TO NIH, TO

3185
01:57:17,000 --> 01:57:17,560
EXTRAMURALDIVERSITY.NIH.GOV.

3186
01:57:17,560 --> 01:57:19,400
HERE ARE RESOURCES FOR FAMILIES

3187
01:57:19,400 --> 01:57:21,160
SEEKING INFORMATION WITH REGARDS

3188
01:57:21,160 --> 01:57:22,560
TO RARE DISEASES, AND ISSUES

3189
01:57:22,560 --> 01:57:26,560
WITH REGARDS TO EQUITY AND

3190
01:57:26,560 --> 01:57:27,840
DIVERSITY IN RARE DISEASES.

3191
01:57:27,840 --> 01:57:29,240
YOU SEE THESE WEBSITES THAT CAN

3192
01:57:29,240 --> 01:57:30,200
BE OF BENEFIT.

3193
01:57:30,200 --> 01:57:31,520
AGAIN, THANK YOU.

3194
01:57:31,520 --> 01:57:33,880
WE LOOK FORWARD TO CONTINUING

3195
01:57:33,880 --> 01:57:34,760
THIS CONVERSATION IN OUR

3196
01:57:34,760 --> 01:57:35,560
COMMUNITIES.

3197
01:57:35,560 --> 01:57:37,160
>> HELLO EVERYONE, WELCOME BACK

3198
01:57:37,160 --> 01:57:39,560
TO THE RARE DISEASE DAY AT NIH.

3199
01:57:39,560 --> 01:57:42,680
MY NAME IS PJ BROOKS, I'M ACTING

3200
01:57:42,680 --> 01:57:44,200
DIRECTOR OF OFFICE OF RARE

3201
01:57:44,200 --> 01:57:45,920
DISEASE Z RESEARCH, HAPPY TO

3202
01:57:45,920 --> 01:57:47,280
CHAIR THE SESSION THIS AVERAGE.

3203
01:57:47,280 --> 01:57:48,520
SOME OF YOU HAVE BEEN WITH US

3204
01:57:48,520 --> 01:57:50,520
FOR MANY YEARS, MAY REMEMBER A

3205
01:57:50,520 --> 01:57:54,320
COUPLE OF YEARS AGO WE HAD A

3206
01:57:54,320 --> 01:57:56,520
PRESENTATION BY TIM AND JULIE ON

3207
01:57:56,520 --> 01:57:59,080
THE DIRECTOR OF OLIGONUCLEOTIDE

3208
01:57:59,080 --> 01:58:00,920
THERAPY FOR A SINGLE PATIENT. 

3209
01:58:00,920 --> 01:58:02,200
AND IN THE YEARS SINCE THEN

3210
01:58:02,200 --> 01:58:03,720
THERE'S BEEN SUBSTANTIAL

3211
01:58:03,720 --> 01:58:05,720
PROGRESS IN THE ADAPTING THAT

3212
01:58:05,720 --> 01:58:08,880
APPROACH SO CALLED N OF 1

3213
01:58:08,880 --> 01:58:10,080
OLIGONUCLEOTIDE APPROACH TO MORE

3214
01:58:10,080 --> 01:58:11,200
DISEASES AND THAT IS WHAT WE

3215
01:58:11,200 --> 01:58:13,320
WILL FOCUS ON TODAY SO WE HAVE

3216
01:58:13,320 --> 01:58:16,160
SEVERAL SPEAKERS INCLUDING BART

3217
01:58:16,160 --> 01:58:18,400
ROGERS FROM U.S. FDA CENTER FOR

3218
01:58:18,400 --> 01:58:21,920
DRUG EVALUATION. MEHMET KUZU,

3219
01:58:21,920 --> 01:58:24,280
RARE DISEASE PATIENT, SCOTT

3220
01:58:24,280 --> 01:58:25,920
DEMAREST, UNIVERSITY OF COLORADO

3221
01:58:25,920 --> 01:58:28,040
AND ADELINE VANDEVER, UNIVERSITY

3222
01:58:28,040 --> 01:58:28,880
UNIVERSITY OF PENNSYLVANIA WHO

3223
01:58:28,880 --> 01:58:31,120
WILL BE OUR SPEAKERS AND THEY

3224
01:58:31,120 --> 01:58:32,480
WILL MAKE THE PRESENTATION THEN

3225
01:58:32,480 --> 01:58:33,920
WE'LL HAVE TIME FOR OPEN

3226
01:58:33,920 --> 01:58:36,000
DISCUSSION. SO LET ME FIRSTHAND

3227
01:58:36,000 --> 01:58:39,560
IT OVER TO HOBART ROGERS.

3228
01:58:39,560 --> 01:58:41,840
>> GOOD AFTERNOON, EVERYONE, MY

3229
01:58:41,840 --> 01:58:45,160
NAME IS HOBART ROGERS, CLINICAL

3230
01:58:45,160 --> 01:58:46,600
PHARMACOLOGIST, FDA OFFICE OF

3231
01:58:46,600 --> 01:58:48,080
CLINICAL PHARMACOLOGY AND

3232
01:58:48,080 --> 01:58:49,200
DIVISION OF TRANSLATIONAL

3233
01:58:49,200 --> 01:58:50,360
PRECISIONAL MEDICINE. I HAVE

3234
01:58:50,360 --> 01:58:52,040
BEEN ASKED TO SPEAK ABOUT NEW

3235
01:58:52,040 --> 01:58:54,400
GUIDANCE TODAY AND IND

3236
01:58:54,400 --> 01:58:56,000
SUBMISSIONS FOR INDIVIDUAL

3237
01:58:56,000 --> 01:58:57,960
ANTISENSE AL GO NUCLEOTIDE DRUG

3238
01:58:57,960 --> 01:58:59,520
PRODUCTS FOR FACILITATING LIFE

3239
01:58:59,520 --> 01:59:00,800
SAVING DISEASES AND SPECIFICALLY

3240
01:59:00,800 --> 01:59:02,120
TALKING ABOUT THE CLINICAL

3241
01:59:02,120 --> 01:59:03,480
GUIDANCE. THERE ARE TWO SISTER

3242
01:59:03,480 --> 01:59:04,520
GUIDANCE PUBLISHED AROUND THE

3243
01:59:04,520 --> 01:59:06,680
SAME TIME, ONE GUIDANCE DEALING

3244
01:59:06,680 --> 01:59:08,600
WITH THE CLINICAL -- CHEMISTRY

3245
01:59:08,600 --> 01:59:10,640
MANUFACTURING AND CONTROLS, THE

3246
01:59:10,640 --> 01:59:12,200
CMC GUIDANCE AN ANOTHER

3247
01:59:12,200 --> 01:59:13,200
NON-CLINICAL GUIDANCE,

3248
01:59:13,200 --> 01:59:14,480
SPECIFICALLY SPEAKING IN THE

3249
01:59:14,480 --> 01:59:17,200
SHORT SESSION TO OUR CLINICAL

3250
01:59:17,200 --> 01:59:18,680
GUIDANCE. I HAVE WORKED IN THE

3251
01:59:18,680 --> 01:59:20,160
PERSONALIZED MEDICINE SPACE THE

3252
01:59:20,160 --> 01:59:21,480
WHOLE TIME SINCE IN FDA AND

3253
01:59:21,480 --> 01:59:23,400
IMPORTANT TO DEFINE TERMS HERE P

3254
01:59:23,400 --> 01:59:25,400
PERSONALIZED MEDICINE IS FINDING

3255
01:59:25,400 --> 01:59:26,760
THE RIGHT DRUG ON THE SHELF TO

3256
01:59:26,760 --> 01:59:28,560
TREAT PATIENT OR AS WE HAVE A

3257
01:59:28,560 --> 01:59:30,400
NEW ARMAMENTARIUM WITH

3258
01:59:30,400 --> 01:59:30,960
INDIVIDUALIZED MEDICINE TO

3259
01:59:30,960 --> 01:59:32,960
CREATE THE RIGHT DRUG IN HIGHLY

3260
01:59:32,960 --> 01:59:33,960
CUSTOMIZABLE FASHION TO TREAT

3261
01:59:33,960 --> 01:59:35,080
THE PATIENT, SOMETIMES THESE

3262
01:59:35,080 --> 01:59:38,120
DRUGS ARE KNOWN AS N OF 1 OR

3263
01:59:38,120 --> 01:59:47,000
SPOKE THERAPIES.  

3264
01:59:47,000 --> 01:59:48,840
>> I WILL GIVE YOU THE CLIFF

3265
01:59:48,840 --> 01:59:50,240
NOTES OF SENSE O OUR DRAFT

3266
01:59:50,240 --> 01:59:51,600
GUIDANCE PUBLISHED ON THE FDA

3267
01:59:51,600 --> 01:59:54,040
WEBSITE AND WHILE I'M GOING OVER

3268
01:59:54,040 --> 01:59:55,800
THE GUIDANCE IT SETS THE TABLE

3269
01:59:55,800 --> 01:59:57,800
FOR OUR LATER DISCUSSION OF KEY

3270
01:59:57,800 --> 01:59:58,720
CONSIDERATIONS WITHIN THIS

3271
01:59:58,720 --> 02:00:00,200
FIELD. SO STARTING OFF I WILL

3272
02:00:00,200 --> 02:00:02,800
TALK ABOUT ETHICAL HUMAN SUBJECT

3273
02:00:02,800 --> 02:00:03,680
PROTECTION CONSIDERATIONS,

3274
02:00:03,680 --> 02:00:05,600
DIAGNOSTIC AND GENETIC

3275
02:00:05,600 --> 02:00:06,680
CONSIDERATIONS, DOSING

3276
02:00:06,680 --> 02:00:09,800
CONSIDERATIONS, FOR THESE NEW

3277
02:00:09,800 --> 02:00:11,840
THERAPEUTICS, ANTISENSE

3278
02:00:11,840 --> 02:00:12,560
OLIGONUCLEOTIDES WHICH HAVE BEEN

3279
02:00:12,560 --> 02:00:14,520
ON THE SCENE THE LAST DECADE AND

3280
02:00:14,520 --> 02:00:17,480
NEW ARMAMENTARIUM TODAY, I WANT

3281
02:00:17,480 --> 02:00:18,800
TO TALK DRUG PRODUCT

3282
02:00:18,800 --> 02:00:20,200
ADMINISTRATION PROCEDURES,

3283
02:00:20,200 --> 02:00:22,600
SAFETY ASSESSMENT AS THESE

3284
02:00:22,600 --> 02:00:23,600
OLIGONUCLEOTIDES HAVE UNIQUE

3285
02:00:23,600 --> 02:00:24,800
SAFETY CONCERNS AND IMPORTANTLY

3286
02:00:24,800 --> 02:00:25,840
THE ASSESSMENT OF CLINICAL

3287
02:00:25,840 --> 02:00:29,920
RESPONSE. NOW, IN TODAY'S SCOPE

3288
02:00:29,920 --> 02:00:32,280
WE WILL ONLY TALK ABOUT VEERLY

3289
02:00:32,280 --> 02:00:34,280
DEBILITATING OR LIFE THREATENING

3290
02:00:34,280 --> 02:00:34,880
GENETIC DISEASE RELATESSED TO

3291
02:00:34,880 --> 02:00:37,720
GUIDANCE, IMPORTANTLY THESE

3292
02:00:37,720 --> 02:00:39,720
INDIVIDUALS WITH DISEASES WILL

3293
02:00:39,720 --> 02:00:41,280
HAVE NO AL EARNTIVE TREATMENT

3294
02:00:41,280 --> 02:00:43,200
OPTIONS AND DISEASE RAPIDLY

3295
02:00:43,200 --> 02:00:44,200
PROGRESSING RESULTING IN EARLY

3296
02:00:44,200 --> 02:00:46,960
DEATH OR DEVASTATING

3297
02:00:46,960 --> 02:00:48,240
IRREVERSIBLE MORTALITY WITHIN A

3298
02:00:48,240 --> 02:00:48,960
SHORT TIME FRAME WITHOUT

3299
02:00:48,960 --> 02:00:51,240
TREATMENT. SO THERE'S OTHER SEEN

3300
02:00:51,240 --> 02:00:52,440
EWES FOR RARE DISEASE, FDA

3301
02:00:52,440 --> 02:00:53,640
SUPPORT ACTIVE OF RARE DISEASE

3302
02:00:53,640 --> 02:00:55,640
DEVELOPMENT BUT THIS IS UNIQUE

3303
02:00:55,640 --> 02:00:57,440
SCOPE OF THE GUIDANCE. THE DRUG

3304
02:00:57,440 --> 02:00:58,480
DEVELOPMENT OF LARGE NUMBER OF

3305
02:00:58,480 --> 02:00:59,800
PATIENTS SAME DISEASE NOT

3306
02:00:59,800 --> 02:01:00,720
ANTICIPATED BECAUSE OF

3307
02:01:00,720 --> 02:01:02,200
SPECIFICITY THE MECHANISM OF

3308
02:01:02,200 --> 02:01:03,720
ACTS OF ANTISENSE COMBINE WITH

3309
02:01:03,720 --> 02:01:06,000
THE RARITY OF THE TREATMENT OF

3310
02:01:06,000 --> 02:01:10,840
ANIMAL PATIENT POPULATION.  SO

3311
02:01:10,840 --> 02:01:13,080
KEY CONSIDERATIONS. STARTING

3312
02:01:13,080 --> 02:01:15,800
FROM A 20,000-FOOT. THE GENE

3313
02:01:15,800 --> 02:01:19,800
VARIANT SHOULD BE TARGETED TO A

3314
02:01:19,800 --> 02:01:21,000
TRIAL PARTICIPANT, ONE OR TWO IN

3315
02:01:21,000 --> 02:01:22,280
THE DISEASE POPULATION.  THIS IS

3316
02:01:22,280 --> 02:01:24,800
HIGHLY CUSTOMIZABLE THERAPY, THE

3317
02:01:24,800 --> 02:01:26,120
INDIVIDUALIZED ANTISENSE DRUG

3318
02:01:26,120 --> 02:01:29,600
PRODUCT SHOULD BELONG TO A WELL

3319
02:01:29,600 --> 02:01:30,960
CHARACTERIZED CHEMICAL CLASS.

3320
02:01:30,960 --> 02:01:34,720
THAT IS A CHEMICAL CLASS,

3321
02:01:34,720 --> 02:01:35,800
SUBSTANTIAL NON-CLINICAL

3322
02:01:35,800 --> 02:01:36,360
INFORMATION IN CLINICAL

3323
02:01:36,360 --> 02:01:37,760
EXPERIENCE WITH THE FDA.

3324
02:01:37,760 --> 02:01:41,040
EXAMPLES OF THESE ARES TO

3325
02:01:41,040 --> 02:01:44,240
FORLESING L STRANDEDS TO FORM

3326
02:01:44,240 --> 02:01:45,720
HYOID BACKBONE OLIGOSENSE

3327
02:01:45,720 --> 02:01:50,560
NUCLEOTIDES AND SYSTEMIC OR

3328
02:01:50,560 --> 02:01:53,760
INTRATHECAL ROUTE OR

3329
02:01:53,760 --> 02:01:58,720
OLIGONUCLEOTIDES, P,Os WITH

3330
02:01:58,720 --> 02:02:00,760
THE CURRENT ROUTE.  ETHICAL

3331
02:02:00,760 --> 02:02:01,840
CONSIDERATIONS FOR THESE

3332
02:02:01,840 --> 02:02:03,840
ANTIGENS OLIGONUCLEOTIDE.  IT IS

3333
02:02:03,840 --> 02:02:04,640
IMPORTANT THEY MUST BE APPROVED

3334
02:02:04,640 --> 02:02:08,520
IN A LEGAL SENSE AND REVIEWED BY

3335
02:02:08,520 --> 02:02:10,400
IRB BEFORE PREASSING.  WHEN

3336
02:02:10,400 --> 02:02:11,440
APPROPRIATE SIGNIFICANT NEW

3337
02:02:11,440 --> 02:02:13,440
FINDINGS DEVELOPED DURING

3338
02:02:13,440 --> 02:02:15,160
RESEARCH THAT MIGHT HAVE FOR

3339
02:02:15,160 --> 02:02:15,800
TRIAL PARTICIPANTS WILLINGNESS

3340
02:02:15,800 --> 02:02:16,520
TO CONTINUE IN THE RESEARCH

3341
02:02:16,520 --> 02:02:17,760
SHOULD BE PROVIDED TO THE

3342
02:02:17,760 --> 02:02:19,320
PATIENT. FDA WANTS TO BE

3343
02:02:19,320 --> 02:02:22,600
ITERATIVE PROCESS, RECOGNIZING

3344
02:02:22,600 --> 02:02:24,120
THAT THE NATURE OF THE DISEASE

3345
02:02:24,120 --> 02:02:26,880
AND RAPID PROGRESSION OF DISEASE

3346
02:02:26,880 --> 02:02:28,160
MANY OF THESE NON-CLINICAL

3347
02:02:28,160 --> 02:02:29,240
FINDINGS ARE GOING TO BE ONGOING

3348
02:02:29,240 --> 02:02:30,640
DURING THE TIME OF DEVELOPMENT

3349
02:02:30,640 --> 02:02:32,400
SO IF NEW FINDINGS SHOULD OCCUR

3350
02:02:32,400 --> 02:02:34,200
WE WANT TO COMMUNICATE TO THE

3351
02:02:34,200 --> 02:02:37,800
PATIENT AND AS NEW DATA

3352
02:02:37,800 --> 02:02:38,840
AVAILABLE FROM TREATING THE

3353
02:02:38,840 --> 02:02:39,800
PATIENT, MAKE SURE THAT IS

3354
02:02:39,800 --> 02:02:41,880
AVAILABLE. DIAGNOSTIC AND

3355
02:02:41,880 --> 02:02:43,640
GENETIC CONSIDERATIONS.  THE

3356
02:02:43,640 --> 02:02:44,680
TRIAL PARTICIPANTS CLINICAL

3357
02:02:44,680 --> 02:02:47,160
GENETIC DIAGNOSIS SHOULD BE CON

3358
02:02:47,160 --> 02:02:48,080
TERMED THROUGH RELEVANT TESTING

3359
02:02:48,080 --> 02:02:50,200
GENE SEQUENCING, ENZYMATIC

3360
02:02:50,200 --> 02:02:52,080
ANALYSIS, WHAT HAVE YOU.

3361
02:02:52,080 --> 02:02:53,640
SPONSORS IMPORTANTLY TO PROVIDE

3362
02:02:53,640 --> 02:02:55,000
EVIDENCE THAT ESTABLISHES THE

3363
02:02:55,000 --> 02:02:56,560
ROLE THE GENE VARIANTS TARGETED

3364
02:02:56,560 --> 02:02:58,200
BY ANTISENSE DRUG. WHAT I MEAN

3365
02:02:58,200 --> 02:03:00,200
BY THIS, ANTISENSE

3366
02:03:00,200 --> 02:03:01,560
OLIGONUCLEOTIDE FOR THOSE WHO

3367
02:03:01,560 --> 02:03:03,280
MIGHT NOT BE FAMILIAR, UNLIKE

3368
02:03:03,280 --> 02:03:06,880
SMALL MOLECULES OR PROTEIN BASED

3369
02:03:06,880 --> 02:03:08,600
THERAPEUTICS, THEY ARE LEVEL

3370
02:03:08,600 --> 02:03:11,040
UPSTREAM, THEY ARE TARGETING THE

3371
02:03:11,040 --> 02:03:13,040
MESSENGER RNA, DNA RNA PROTEIN,

3372
02:03:13,040 --> 02:03:16,160
THESE DRUGS WORK AT LEVEL RNA TO

3373
02:03:16,160 --> 02:03:17,720
THEREFORE SILENCE AN ABERRANT

3374
02:03:17,720 --> 02:03:19,400
PROTEIN CAUSING DISEASE OR

3375
02:03:19,400 --> 02:03:20,280
INCREASE LEVEL OF PROTEIN THAT

3376
02:03:20,280 --> 02:03:22,400
IS ABOUT SENTENCE IN CAUSING

3377
02:03:22,400 --> 02:03:24,280
DISEASE.  SO NEED TO PROVIDE

3378
02:03:24,280 --> 02:03:25,760
EVIDENCE ESTABLISHES THE ROLE

3379
02:03:25,760 --> 02:03:27,960
THE GENE VARIANT TARGETED BY

3380
02:03:27,960 --> 02:03:33,400
ANTISENSE IS PATHOGENIC IN TRIAL

3381
02:03:33,400 --> 02:03:34,760
DISEASE. MOREOVER SPONSORS

3382
02:03:34,760 --> 02:03:36,600
SHOULD PROVIDE EVIDENCE THE

3383
02:03:36,600 --> 02:03:37,800
VARIANTS ARE UNIQUE TO THE TRIAL

3384
02:03:37,800 --> 02:03:40,000
PARTICIPANT.  DOSING

3385
02:03:40,000 --> 02:03:41,600
CONSIDERATIONS. AS I MENTIONED,

3386
02:03:41,600 --> 02:03:44,560
THESE COMPOUNDS ARE RELATIVELY

3387
02:03:44,560 --> 02:03:46,200
NEW, IN OUR CLINICAL

3388
02:03:46,200 --> 02:03:47,800
ARMAMENTARIUM AND MUCH TO BE

3389
02:03:47,800 --> 02:03:49,720
LEARNED. THE STARTING DO IT

3390
02:03:49,720 --> 02:03:50,600
SHOULD BE AVAILABLE ON

3391
02:03:50,600 --> 02:03:52,240
NON-CLINICAL DATA. GIVEN NATURE

3392
02:03:52,240 --> 02:03:55,120
OF THESE DISEASES, THIS CLINICAL

3393
02:03:55,120 --> 02:03:57,800
DATA IS OFTEN VERY LIMITED

3394
02:03:57,800 --> 02:03:58,880
EXTENT AND ACCRUING DURING THE

3395
02:03:58,880 --> 02:04:00,880
COURSE OF STUDY. SO BASED ON

3396
02:04:00,880 --> 02:04:02,640
THAT THE STARTING DOSE SHOULD BE

3397
02:04:02,640 --> 02:04:05,440
CALCULATED ON INTERSPECIES DOSE

3398
02:04:05,440 --> 02:04:06,800
COMPARISON AN MORE INFORMATION

3399
02:04:06,800 --> 02:04:10,440
FOUND ON IN OUR NON-CLINICAL

3400
02:04:10,440 --> 02:04:11,440
GUIDANCE TAME TOPIC. GIVEN THE

3401
02:04:11,440 --> 02:04:12,440
LIMITED NON-CLINICAL DATA WHEN

3402
02:04:12,440 --> 02:04:14,000
DOSING IS INITIATED THE SPONSORS

3403
02:04:14,000 --> 02:04:15,160
SHOULD CONSIDER A DOSE

3404
02:04:15,160 --> 02:04:17,160
ESCALATION APPROACH OR DOSING IS

3405
02:04:17,160 --> 02:04:19,160
INITIATED AND ESCALATED TO

3406
02:04:19,160 --> 02:04:21,720
HIGHER DOSES BASED ON

3407
02:04:21,720 --> 02:04:24,080
PHARMACODYNAMIC PD EFFECTS

3408
02:04:24,080 --> 02:04:25,200
AND/OR TRIAL PARTICIPANT

3409
02:04:25,200 --> 02:04:27,000
RESPONSE INVESTIGATIONAL DRUG

3410
02:04:27,000 --> 02:04:29,120
PRODUCT AS WELL AS AVAILABLE

3411
02:04:29,120 --> 02:04:30,480
NON-AVAILABLE DATA SO UTILIZE

3412
02:04:30,480 --> 02:04:31,920
EVERYTHING WE HAVE AVAILABLE TO

3413
02:04:31,920 --> 02:04:32,640
GUIDE IN THIS DOSING

3414
02:04:32,640 --> 02:04:35,200
CONSIDERATIONS. MOREOVER GIVEN

3415
02:04:35,200 --> 02:04:36,360
LIMITED NATURE OF THE

3416
02:04:36,360 --> 02:04:37,400
NON-CLINICAL DATA SPONSORS

3417
02:04:37,400 --> 02:04:39,400
SHOULD INCREASE DOSES CAUTIOUSLY

3418
02:04:39,400 --> 02:04:40,960
DURING DOSE ESCALATION TYPICALLY

3419
02:04:40,960 --> 02:04:42,960
NO MORE THAN TWOFOLD INCREMENT.

3420
02:04:42,960 --> 02:04:44,400
I SHOULD NOTE UNLIKE SMALL

3421
02:04:44,400 --> 02:04:46,520
MOLECULES OR PROTEIN BASED

3422
02:04:46,520 --> 02:04:48,080
THERAPEUTICS ANTISENSE

3423
02:04:48,080 --> 02:04:50,080
OLIGONUCLEOTIDES HAVE RELATIVELY

3424
02:04:50,080 --> 02:04:51,760
IN GENERAL LONG PHARMACODYNAMIC

3425
02:04:51,760 --> 02:04:53,240
HALF LIVES SO THIS IS IMPORTANT

3426
02:04:53,240 --> 02:04:55,560
THAT WE ALLOW SUFFICIENT TIME TO

3427
02:04:55,560 --> 02:04:56,920
RESERVE RESPONSE TO A DOSE

3428
02:04:56,920 --> 02:04:58,600
CHANGE BEFORE MAKING FURTHER

3429
02:04:58,600 --> 02:04:59,960
MODIFICATION. AGAIN THOUGH IT

3430
02:04:59,960 --> 02:05:02,960
MAY NOT BE DETECTABLE FROM

3431
02:05:02,960 --> 02:05:05,800
PHARMACOKINETICS STANDPOINT A

3432
02:05:05,800 --> 02:05:06,960
PHARMACODYNAMICALLY ALTERING RNA

3433
02:05:06,960 --> 02:05:08,400
AND DOWNSTREAM PROTEIN MAY TAKE

3434
02:05:08,400 --> 02:05:10,200
A WHILE SO ALLOW SUFFICIENT TIME

3435
02:05:10,200 --> 02:05:12,320
FOR DOSE INCREASING. THERE ARE

3436
02:05:12,320 --> 02:05:13,600
UNIQUE ADMINISTRATION

3437
02:05:13,600 --> 02:05:15,080
CONSIDERATIONS FOR THESE, SOME

3438
02:05:15,080 --> 02:05:17,400
OF THESE ANTISENSE

3439
02:05:17,400 --> 02:05:19,280
OLIGONUCLEOTIDES ARE

3440
02:05:19,280 --> 02:05:20,840
ADMINISTERED INTERTHECALLY TO

3441
02:05:20,840 --> 02:05:23,480
TARGET CNS DISEASE. THEY SHOULD

3442
02:05:23,480 --> 02:05:25,880
ADMINISTER START DOSE FOR EACH

3443
02:05:25,880 --> 02:05:26,920
ESCALATION IN IN PATIENT

3444
02:05:26,920 --> 02:05:30,360
SETTING. AND MONITOR PATIENTS

3445
02:05:30,360 --> 02:05:32,000
FOR 24 HOURS FOR UNTOWARD

3446
02:05:32,000 --> 02:05:33,800
EFFECTS OF DRUG OR

3447
02:05:33,800 --> 02:05:35,680
ADMINISTRATION ISSUES

3448
02:05:35,680 --> 02:05:37,640
ENTERTHECAL ADMINISTRATION. ONCE

3449
02:05:37,640 --> 02:05:39,320
SUFFICIENT TIME IS ALLOWED TO

3450
02:05:39,320 --> 02:05:40,840
SPONSOR TO ADEQUATELY

3451
02:05:40,840 --> 02:05:42,400
CHARACTERIZE SAFETY AND

3452
02:05:42,400 --> 02:05:44,040
TOLERABILITY AT GIVEN DOSE THESE

3453
02:05:44,040 --> 02:05:45,760
COULD BE ADMINISTERED IN

3454
02:05:45,760 --> 02:05:47,000
OUTPATIENT CLINIC SETTING. WE

3455
02:05:47,000 --> 02:05:48,560
RECOGNIZE THIS CAN BE BURDENSOME

3456
02:05:48,560 --> 02:05:50,680
ON MANY FAMILIES, VERY LIMITED

3457
02:05:50,680 --> 02:05:53,440
LOCATIONS THAT CAN ADMINISTER

3458
02:05:53,440 --> 02:05:55,800
THESE DRUGS, INTRATHECAL OLIGOS

3459
02:05:55,800 --> 02:05:57,320
SO AFTER ADEQUATELY THE SAFETY

3460
02:05:57,320 --> 02:05:59,160
HAS BEEN ADEQUATELY QUARKIZED

3461
02:05:59,160 --> 02:06:00,720
FOLLOWING THE FIRST DOSE THEY

3462
02:06:00,720 --> 02:06:02,480
CAN BE ADMINISTERED IN

3463
02:06:02,480 --> 02:06:04,600
OUTPATIENT CLINIC SETTING,

3464
02:06:04,600 --> 02:06:06,200
HOWEVER FOR INTRATHECAL

3465
02:06:06,200 --> 02:06:07,240
OLIGONUCLEOTIDES THEY HAVE TO BE

3466
02:06:07,240 --> 02:06:08,920
EXPERIENCED MEDICAL PERSONNEL

3467
02:06:08,920 --> 02:06:11,800
LIKE PEDIATRIC ANESTHETIST TO

3468
02:06:11,800 --> 02:06:14,560
ADMINISTER THROUGH THIS PROCESS.

3469
02:06:14,560 --> 02:06:17,240
SAFETY ASSESSMENT. AGAIN, THESE

3470
02:06:17,240 --> 02:06:19,200
ARE ANTISENSE OLIGONUCLEOTIDES

3471
02:06:19,200 --> 02:06:23,760
ARE RELATIVE THROUGHLY NEW SO

3472
02:06:23,760 --> 02:06:25,320
SPONSORS PERFORM ROUTINE SAFETY

3473
02:06:25,320 --> 02:06:26,640
ASSESSMENTS SOME DEPENDENT ON

3474
02:06:26,640 --> 02:06:28,560
THE UNIQUE OLIGONUCLEOTIDE AND

3475
02:06:28,560 --> 02:06:31,400
THE BIOINFORMATIC DATA OR

3476
02:06:31,400 --> 02:06:32,800
NON-CLINICAL DATA INFORMING US

3477
02:06:32,800 --> 02:06:35,120
INVESTIGATING NUANCE FOR PROGRAM

3478
02:06:35,120 --> 02:06:38,520
IN ADDITION THEY SHOULD CONTINUE

3479
02:06:38,520 --> 02:06:39,760
TO MON FOR SAFETY BASED ON

3480
02:06:39,760 --> 02:06:41,240
ANTICIPATED HALF LIVE OF THE A

3481
02:06:41,240 --> 02:06:42,720
ANTISENSE OLIGONUCLEOTIDE

3482
02:06:42,720 --> 02:06:44,320
PRODUCT.  THIS IS MORE ON THE

3483
02:06:44,320 --> 02:06:45,880
PHARMACODYNAMIC HALF LIFE HAS

3484
02:06:45,880 --> 02:06:47,200
THESE THINGS TEND TO HAVE

3485
02:06:47,200 --> 02:06:48,880
RELATIVELY LONG HALF LIVES IN

3486
02:06:48,880 --> 02:06:50,200
INTRACELLULAR LEVEL TO CONTINUE

3487
02:06:50,200 --> 02:06:51,720
SUPPRESS PROTEIN OR INCREASE

3488
02:06:51,720 --> 02:06:54,480
SPLICING AND MAKE A NEW PROTEIN.

3489
02:06:54,480 --> 02:06:57,400
NOW, IN SOME OLIGOEWE CLEO TIDES

3490
02:06:57,400 --> 02:07:00,120
WITH A PHOSPHORYLATED BACKBONE

3491
02:07:00,120 --> 02:07:01,960
THERE'S A RICK OF CYTOPENIA,

3492
02:07:01,960 --> 02:07:03,600
THOUGH RARE CAN BE SERIOUS SO

3493
02:07:03,600 --> 02:07:05,880
ANY ANTISENSE OLIGONUCLEOTIDE IN

3494
02:07:05,880 --> 02:07:07,760
THIS SPACE THAT HAS A BACKBONE

3495
02:07:07,760 --> 02:07:09,600
BE MONITORED FOR

3496
02:07:09,600 --> 02:07:11,760
THROMBOCYTOPENIA AND SPONSORSHIP

3497
02:07:11,760 --> 02:07:12,880
FORM INTERVIEW PLATELET COUNT

3498
02:07:12,880 --> 02:07:17,200
EVERY TWO WEEKS OFFER OR BEFORE

3499
02:07:17,200 --> 02:07:18,760
DOSE ADMINISTRATION, WHENEVER IS

3500
02:07:18,760 --> 02:07:21,120
MORE FREQUENT. AND LAST BUT NOT

3501
02:07:21,120 --> 02:07:21,760
AT LEAST, THIS IS VERY IMPORTANT

3502
02:07:21,760 --> 02:07:22,880
TO THE AUDIENCE TODAY, THIS

3503
02:07:22,880 --> 02:07:24,440
ASSESSMENT OF THE CLINICAL

3504
02:07:24,440 --> 02:07:25,800
RESPONSE. THERE ARE NUMBER OF

3505
02:07:25,800 --> 02:07:27,640
TOOLS AVAILABLE FOR SPONSORS TO

3506
02:07:27,640 --> 02:07:29,440
USE CLINICAL ASSESSMENTS. FOR

3507
02:07:29,440 --> 02:07:30,680
INSTANCE THEY CAN USE CLINICAL

3508
02:07:30,680 --> 02:07:32,600
OUTCOME ASSESSMENT SCALES,

3509
02:07:32,600 --> 02:07:34,160
PERFORMANCE BASED ASSESSMENT,

3510
02:07:34,160 --> 02:07:36,240
VERY IMPORTANT, TO THE AUDIENCE

3511
02:07:36,240 --> 02:07:38,440
IS IN MANY CASES CAREGIVER

3512
02:07:38,440 --> 02:07:39,720
REPORTING CHANGES AND SIGNALS. 

3513
02:07:39,720 --> 02:07:40,800
THE FDA IS LISTENING TO PATIENT

3514
02:07:40,800 --> 02:07:43,000
WHAT IS IS IMPORTANT, SIMPLE

3515
02:07:43,000 --> 02:07:44,000
LIKE BEING ABLE TO UTILIZE A

3516
02:07:44,000 --> 02:07:46,240
MOUSE TO MAINTAIN SOME DAILY

3517
02:07:46,240 --> 02:07:47,600
FUNCTION OR WORK LIFE. THINGS

3518
02:07:47,600 --> 02:07:50,920
LIKE THAT WE LISTEN TO. OF ALSO

3519
02:07:50,920 --> 02:07:52,520
IMPORTANT CONSIDERATION ARE

3520
02:07:52,520 --> 02:07:53,760
PHARMACODYNAMIC BIOMARKERS,

3521
02:07:53,760 --> 02:07:57,000
PROOF OF CONCEPT THE ANTISENSE

3522
02:07:57,000 --> 02:07:58,080
OLIGONUCLEOTIDE IS DOING WHAT IT

3523
02:07:58,080 --> 02:07:59,320
IS DESIGNED TO DO. FOR INSTANCE

3524
02:07:59,320 --> 02:08:01,480
IF SUPPRESSING A PROTEIN THAT IS

3525
02:08:01,480 --> 02:08:02,960
ABERRANT IN THE UNDERLYING CAUSE

3526
02:08:02,960 --> 02:08:05,080
OF THE DISEASE, A MEASUREMENT OF

3527
02:08:05,080 --> 02:08:07,000
FOR INSTANCE CSF PROTEIN SHOWING

3528
02:08:07,000 --> 02:08:08,600
THIS PROTEIN IS DECREASING

3529
02:08:08,600 --> 02:08:10,200
FOLLOWING THE ADMINISTRATION OF

3530
02:08:10,200 --> 02:08:12,720
THE ANTISENSE OLIGONUCLEOTIDE IS

3531
02:08:12,720 --> 02:08:14,280
HELPFUL FOR US IN ASSESSING

3532
02:08:14,280 --> 02:08:15,760
RESPONSE TO THESE CUSTOMIZABLE

3533
02:08:15,760 --> 02:08:18,520
PRODUCTS.  LAST BUT NOT LEAST,

3534
02:08:18,520 --> 02:08:22,000
THE PROTOCOL SHOULD HAVE

3535
02:08:22,000 --> 02:08:23,720
PRE-SPECIFIED PLAN FOR ASSESSING

3536
02:08:23,720 --> 02:08:24,400
TRIAL PARTICIPANTS CLINICAL

3537
02:08:24,400 --> 02:08:26,200
RESPONSE TO INVESTIGATIONAL ASO

3538
02:08:26,200 --> 02:08:27,640
TO ENSURE THE BENEFIT RISK

3539
02:08:27,640 --> 02:08:29,600
ASSESSMENT REMAINS FAVORABLE.

3540
02:08:29,600 --> 02:08:31,440
FDA RECOGNIZES THIS IS A UNIQUE

3541
02:08:31,440 --> 02:08:33,800
PROCESS WE ARE VERY EARLY IN THE

3542
02:08:33,800 --> 02:08:35,000
LEARNING CURVE OF MOLECULES AND

3543
02:08:35,000 --> 02:08:36,760
MAKE SURE BENEFIT RISK IS

3544
02:08:36,760 --> 02:08:37,360
MAINTAINED THROUGHOUT THE

3545
02:08:37,360 --> 02:08:41,720
PROCESS.  OF GRANTING THIS. WITH

3546
02:08:41,720 --> 02:08:43,160
THAT AGAIN FDA REMAINS COMMITTED

3547
02:08:43,160 --> 02:08:44,400
TO LAYER DISEASE PROGRAMS AND

3548
02:08:44,400 --> 02:08:45,560
PATIENTS REMAIN FLEXIBLE AND

3549
02:08:45,560 --> 02:08:46,440
RECOGNIZE THERE IS MUCH TO BE

3550
02:08:46,440 --> 02:08:47,920
LEARNED AND WE RELY ON OUR

3551
02:08:47,920 --> 02:08:49,720
PATIENTS TO BEST INFORM US WITH

3552
02:08:49,720 --> 02:08:57,280
THAT BEING SAID THANK YOU.  O

3553
02:08:57,280 --> 02:09:00,640
>> HI, EVERYBODY. I'M MEHMET

3554
02:09:00,640 --> 02:09:04,160
KUZU, FATHER OF A RARE DISEASE

3555
02:09:04,160 --> 02:09:07,120
PATIENT. AND TODAY I WOULD LIKE

3556
02:09:07,120 --> 02:09:10,640
TO TALK ABOUT OUR JOURNEY

3557
02:09:10,640 --> 02:09:12,960
TOWARDS PERSONALIZED ANTISENSE

3558
02:09:12,960 --> 02:09:17,640
OLIGONUCLEOTIDE THERAPY.  WHO IS

3559
02:09:17,640 --> 02:09:22,440
IN THE PICTURE, WAS BORN BACK IN

3560
02:09:22,440 --> 02:09:28,320
MARCH 22, 2017. AFTER TEN DAYS

3561
02:09:28,320 --> 02:09:30,880
OF HER BIRTH, WE GOT THE CALL

3562
02:09:30,880 --> 02:09:34,200
FROM HER PEDIATRICIAN AND SHE

3563
02:09:34,200 --> 02:09:38,040
SAID THAT SHE WAS CALLED AT

3564
02:09:38,040 --> 02:09:41,680
NEWBORN SCREENND AND SOMETHING

3565
02:09:41,680 --> 02:09:44,680
CALLED SEVERE IMPUGNED

3566
02:09:44,680 --> 02:09:50,880
IMMUNODEFICIENCY BUT NEED TO RUN

3567
02:09:50,880 --> 02:09:51,760
TESTS TO VALUE DATE.  WHEN THEY

3568
02:09:51,760 --> 02:09:53,200
RUN THE TESTS TURNS OUTS TO BE

3569
02:09:53,200 --> 02:09:56,520
SHE DOESN'T HAVE SEVERE COMBINED

3570
02:09:56,520 --> 02:09:59,680
IMMUNE DEFICIENCY BUT SOMETHING

3571
02:09:59,680 --> 02:10:01,240
IS WEIRD ABOUT HER IMMUNE

3572
02:10:01,240 --> 02:10:04,880
SYSTEM.ND THEY REFER US TO

3573
02:10:04,880 --> 02:10:05,480
STANFORD FOR FURTHER

3574
02:10:05,480 --> 02:10:10,160
INVESTIGATION. THEN SHE WAS

3575
02:10:10,160 --> 02:10:12,120
AROUND SIX MONTHS OLD, WE GOT

3576
02:10:12,120 --> 02:10:16,200
THE NEWS, WE LEARNED WHAT IS

3577
02:10:16,200 --> 02:10:18,760
GOING ON. IT IS BASED ON THE

3578
02:10:18,760 --> 02:10:20,960
WHOLE EXOME SEQUENCING. AND IT

3579
02:10:20,960 --> 02:10:24,080
TURNS OUT TO BE THAT SHE HAS A

3580
02:10:24,080 --> 02:10:26,840
RARE GENETIC DISEASE WHICH IS

3581
02:10:26,840 --> 02:10:30,600
CALLED ATAXIA TELANGIECTASIA.

3582
02:10:30,600 --> 02:10:34,240
WHICH WE HAVEN'T HEARD BEFORE. 

3583
02:10:34,240 --> 02:10:39,120
AND IT WAS A SHOCKING NEWS FOR

3584
02:10:39,120 --> 02:10:41,880
US BECAUSE WHAT THEY TOLD US

3585
02:10:41,880 --> 02:10:45,240
THAT IT DOESN'T HAVE ANY KNOWN

3586
02:10:45,240 --> 02:10:47,720
CURE AND WE CAN ONLY MANAGE

3587
02:10:47,720 --> 02:10:53,040
SYMPTOMS AND IT HAS IT WILL HAVE

3588
02:10:53,040 --> 02:10:56,000
BAD CONSEQUENCES IN THE FUTURE.

3589
02:10:56,000 --> 02:10:57,440
WILL CAUSE LOSS OF MUSCLE

3590
02:10:57,440 --> 02:11:04,440
CONTROL AND BALANCE, WHICH LEAD

3591
02:11:04,440 --> 02:11:06,360
TO THEM ISSUES LIKE SHE WILL NOT

3592
02:11:06,360 --> 02:11:10,800
BE ABLE TO WALK. SHE CANNOT

3593
02:11:10,800 --> 02:11:12,360
CLEARLY SWALLOW EASILY, SHE WILL

3594
02:11:12,360 --> 02:11:17,840
NOT BE ABLE TO READ AFTER WHILE

3595
02:11:17,840 --> 02:11:21,400
AND HAVE OTHER PROBLEMS LIKE

3596
02:11:21,400 --> 02:11:22,840
CANCER LUNG DISEASE IMMUNOSYSTEM

3597
02:11:22,840 --> 02:11:30,840
PROBLEMS.  AFTER OVERCOMING THIS

3598
02:11:30,840 --> 02:11:31,840
SHOCK, WE STARTED INVESTIGATING

3599
02:11:31,840 --> 02:11:33,840
TO SEE IF THERE IS SOMETHING IN

3600
02:11:33,840 --> 02:11:38,040
THE HORIZON LIKE ANY RESEARCH

3601
02:11:38,040 --> 02:11:40,640
THAT IS BEING CONDUCTED ABOUT

3602
02:11:40,640 --> 02:11:44,040
THE SUBJECT. WE TRIED TO REACH

3603
02:11:44,040 --> 02:11:47,880
OUT TO EXPERTS AND SOME OF OUR

3604
02:11:47,880 --> 02:11:50,800
FRIENDS WORKING IN THIS SPACE,

3605
02:11:50,800 --> 02:11:53,880
AND ONE OF MY FRIENDS WHO IS A

3606
02:11:53,880 --> 02:11:58,360
GENETICS POST DOC AT STAN FORD

3607
02:11:58,360 --> 02:12:00,800
FOUND A PAPER AND SENT IT TO OUR

3608
02:12:00,800 --> 02:12:03,520
WAY, IT WAS A VERY INTERESTING

3609
02:12:03,520 --> 02:12:05,640
PAPER THAT -- IT WAS SAYING HA

3610
02:12:05,640 --> 02:12:08,600
THIS EXACT SAME MUTATION OF OUR

3611
02:12:08,600 --> 02:12:13,280
DAUGHTER HAS BEEN STUDIED -- HAS

3612
02:12:13,280 --> 02:12:17,120
BEEN FOUND LIKE 20 YEARS AGO AND

3613
02:12:17,120 --> 02:12:20,560
AT UCLA THEY DEVELOPED ANTISENSE

3614
02:12:20,560 --> 02:12:22,680
OLIGONUCLEOTIDES TO FIX IT.  AT

3615
02:12:22,680 --> 02:12:23,600
THE LAB ENVIRONMENT AND IT WAS

3616
02:12:23,600 --> 02:12:27,920
WORKING FINE. SO WE GOT VERY

3617
02:12:27,920 --> 02:12:31,000
EXCITED AND WE FLIED TO UCLA

3618
02:12:31,000 --> 02:12:33,200
RIGHT AWAY AND FOUND THOSE

3619
02:12:33,200 --> 02:12:35,920
RESEARCHERS IN THE -- THEY SAID

3620
02:12:35,920 --> 02:12:37,320
YES, IT WORKED IN THE LAB

3621
02:12:37,320 --> 02:12:40,680
ENVIRONMENT BUT THERE IS STILL

3622
02:12:40,680 --> 02:12:44,880
BIG GAP FROM LAB EXPERIMENTS AND

3623
02:12:44,880 --> 02:12:47,960
MAKING IT AVAILABLE TO HUMANS.

3624
02:12:47,960 --> 02:12:53,080
THIS WILL NOT HAPPEN SOON SO IT

3625
02:12:53,080 --> 02:12:54,680
WAS A HEART BREAKING NEWS FOR US

3626
02:12:54,680 --> 02:13:01,600
AT THAT POINT. AND THEN NOW AT

3627
02:13:01,600 --> 02:13:05,240
THIS POINT I WOULD LIKE TO TALK

3628
02:13:05,240 --> 02:13:08,840
ABOUT A CHILDREN'S PROJECT WHICH

3629
02:13:08,840 --> 02:13:12,280
CROSSED OUR PATHS IN THE RARE

3630
02:13:12,280 --> 02:13:16,680
EARLY CASES OF OUR JOURNEY. THE

3631
02:13:16,680 --> 02:13:22,000
PROJECT IS NOT PROFIT FOUNDATION

3632
02:13:22,000 --> 02:13:24,640
TO OPTIMIZE DISEASE MANAGEMENT

3633
02:13:24,640 --> 02:13:27,240
STRATEGIES AND DEVELOP NEW

3634
02:13:27,240 --> 02:13:29,680
TREATMENTS AND FIND A CURE FOR

3635
02:13:29,680 --> 02:13:36,080
AT.  THEY GUIDED US FROM THE

3636
02:13:36,080 --> 02:13:45,600
BEGINNING. ONE DAY THEY SHARED

3637
02:13:45,600 --> 02:13:52,120
WE CHOSE TALKS WITH MELA. SO

3638
02:13:52,120 --> 02:13:53,440
THEN WE LOOKED AT TWO THINGS,

3639
02:13:53,440 --> 02:13:59,480
THEY ARE VERY SIMILAR SO OUR

3640
02:13:59,480 --> 02:14:01,840
CASE IS SINGLE GENE DISEASE

3641
02:14:01,840 --> 02:14:03,200
NEURODEGENERATIVE DISEASE AND WE

3642
02:14:03,200 --> 02:14:07,840
KNOW OUR MUTATION TYPE SLICE

3643
02:14:07,840 --> 02:14:10,720
MUTATION AMENABLE TO ASO. THINGS

3644
02:14:10,720 --> 02:14:16,680
LIKE FIT NICELY TOGETHER AND THE

3645
02:14:16,680 --> 02:14:18,560
DIFFERENCE FROM THE UCLA LAB

3646
02:14:18,560 --> 02:14:19,800
EXPERIMENTS IS NOW SOMEBODY IS

3647
02:14:19,800 --> 02:14:24,000
DOING IT IN HUMAN BEING, SO NOW

3648
02:14:24,000 --> 02:14:28,840
THERE IS A VERY GOOD POTENTIAL

3649
02:14:28,840 --> 02:14:31,080
THERE. WE REACHED OUT TO THE

3650
02:14:31,080 --> 02:14:36,400
TEAM RIGHT AWAY AND WE MENTIONED

3651
02:14:36,400 --> 02:14:38,240
THAT LIKE OUR MUTATION SEEMS TO

3652
02:14:38,240 --> 02:14:43,280
BE AMENABLE TO THIS AND WE HAVE

3653
02:14:43,280 --> 02:14:47,640
SEEN THE WORK ON MILA, COULD YOU

3654
02:14:47,640 --> 02:14:53,640
HELP US? WE SEND THE DOCUMENTS

3655
02:14:53,640 --> 02:14:56,600
TO HIM AND HE SAID WE CAN DO

3656
02:14:56,600 --> 02:14:58,440
SOMETHING. BUT WILL IS ONE MORE

3657
02:14:58,440 --> 02:15:02,120
PROBLEM NOW, THE PROBLEM NOW IS

3658
02:15:02,120 --> 02:15:06,480
THAT THE FINANCE. TO RUN THIS

3659
02:15:06,480 --> 02:15:11,160
STUDY LIKE WE DID AROUND $2

3660
02:15:11,160 --> 02:15:15,360
MILLION. FORTUNATELY A

3661
02:15:15,360 --> 02:15:16,320
CHILDREN'S PROJECT STEPPED IN

3662
02:15:16,320 --> 02:15:24,240
AND AGREED TO FUND THIS TRIAL.

3663
02:15:24,240 --> 02:15:27,160
BUT THIS -- THE FUNDING FOR A-T

3664
02:15:27,160 --> 02:15:28,560
CHILDREN'S PROJECT IS COMING

3665
02:15:28,560 --> 02:15:34,000
FROM ALL THE A-T FAMILIES. THEY

3666
02:15:34,000 --> 02:15:36,960
ARE INCREDIBLE EFFORTS TO RAISE

3667
02:15:36,960 --> 02:15:41,840
DONATIONS AND IT WILL NOT BE

3668
02:15:41,840 --> 02:15:45,440
FAIR IF IT IS APRIED TO OUR

3669
02:15:45,440 --> 02:15:47,360
DAUGHTER. SO WE NEED LIKE MUCH

3670
02:15:47,360 --> 02:15:50,560
-- A BETTER PROCESS FOR THE

3671
02:15:50,560 --> 02:15:55,480
SELECTION OF WHICH SELECTION OF

3672
02:15:55,480 --> 02:16:01,440
THE PATIENT. A-TCP HAS A GENETIC

3673
02:16:01,440 --> 02:16:08,520
BANK FOR THE KIDS. AND THE LAB

3674
02:16:08,520 --> 02:16:11,080
QUICKLY DETECTED YOUNG KIDS

3675
02:16:11,080 --> 02:16:14,440
WHOSE MUTATIONS ARE AMENABLE TO

3676
02:16:14,440 --> 02:16:20,040
ASO THERAPY, AND INCLUDING THREE

3677
02:16:20,040 --> 02:16:25,760
YOUNG KIDS SELECTED FOR LAB

3678
02:16:25,760 --> 02:16:28,360
EXPERIMENTS. THEN THIS HAS A LOT

3679
02:16:28,360 --> 02:16:32,040
EXPERIMENT RESULTS FOR OUR

3680
02:16:32,040 --> 02:16:36,320
DAUGHTER BUT IT SAYS HERE WHEN

3681
02:16:36,320 --> 02:16:43,640
SHE NORMALLY HAS PATHOGENIC

3682
02:16:43,640 --> 02:16:47,360
PROTEIN. SO SHE IS NOT PRODUCING

3683
02:16:47,360 --> 02:16:51,200
ANY GOOD PROTEIN. THEN THEY

3684
02:16:51,200 --> 02:16:55,280
TRIED DIFFERENT ASOs AND ON

3685
02:16:55,280 --> 02:16:59,440
THE LINE LIKE THIS, ASO NUMBER

3686
02:16:59,440 --> 02:17:02,040
8, WHEN THEY TRIED THE CELL

3687
02:17:02,040 --> 02:17:05,360
LINES IT PRODUCE 55% HEALTHY

3688
02:17:05,360 --> 02:17:13,640
PROTEIN. NORMAL ATM. THESE THREE

3689
02:17:13,640 --> 02:17:18,440
KIDS, THIS 55% NORMAL ATM WAS

3690
02:17:18,440 --> 02:17:22,040
THE BEST RESULT. SO FOR THE

3691
02:17:22,040 --> 02:17:27,280
OTHER KIDS THIS WAS LIKE THESE

3692
02:17:27,280 --> 02:17:30,160
PERCENTAGES WAS LESS. SO THEN

3693
02:17:30,160 --> 02:17:32,840
OUR BASED ON THESE RESULTS OUR

3694
02:17:32,840 --> 02:17:35,280
DAUGHTER WAS SELECTED FOR THE

3695
02:17:35,280 --> 02:17:40,640
FIRST A-T PATIENT TO TRY ASO. 

3696
02:17:40,640 --> 02:17:46,720
AND THEN FOR ALMOST A YEAR THEY

3697
02:17:46,720 --> 02:17:50,920
RAN TOXICOLOGY EXPERIMENTS AND

3698
02:17:50,920 --> 02:17:56,680
WHEN SHE WAS AROUND 2 1/2 YEARS

3699
02:17:56,680 --> 02:18:05,360
OLD, EARLY 2020, SHE STARTED

3700
02:18:05,360 --> 02:18:07,120
GETTING ANTISENSE

3701
02:18:07,120 --> 02:18:10,960
OLIGONUCLEOTIDES. SO IT HAS BEEN

3702
02:18:10,960 --> 02:18:16,120
ALMOST TWO YEARS SO FAR. BUT AT

3703
02:18:16,120 --> 02:18:18,120
THIS POINT STILL IT IS -- WE

3704
02:18:18,120 --> 02:18:23,080
DON'T HAVE A CONCRETE ANSWER. IT

3705
02:18:23,080 --> 02:18:28,560
IS WORKING FINE. WHAT I CAN SAY

3706
02:18:28,560 --> 02:18:31,720
IS IT IS THE MOST MISSING

3707
02:18:31,720 --> 02:18:33,400
APPROACH AT THIS POINT FOR ALL

3708
02:18:33,400 --> 02:18:36,480
A-T COMMUNITY AND THERE ARE

3709
02:18:36,480 --> 02:18:40,600
STILL LOTS OF UNKNOWNS THINGS TO

3710
02:18:40,600 --> 02:18:44,440
BE LEARNED BUT WE ARE EXCITED

3711
02:18:44,440 --> 02:18:48,360
AND WE ARE HOPING WE CAN GIVE

3712
02:18:48,360 --> 02:18:52,320
SOME GOOD NEWS TO EVERYONE IN

3713
02:18:52,320 --> 02:18:54,240
THE FUTURE. THANK YOU, VERY MUCH

3714
02:18:54,240 --> 02:19:02,040
FOR LISTENING AND HAVING ME.  

3715
02:19:02,040 --> 02:19:04,840
>> HI. THANKS FOR THE INVITATION

3716
02:19:04,840 --> 02:19:08,120
TO SPEAK HERE. I'M SPEAKING ON

3717
02:19:08,120 --> 02:19:10,800
BEHALF OF RELATIVELY RECENTLY

3718
02:19:10,800 --> 02:19:12,120
FORMED COLLABORATIVE TO TRY TO

3719
02:19:12,120 --> 02:19:17,200
ADVANCE THESE TYPES OF N OF 1

3720
02:19:17,200 --> 02:19:19,320
THERAPEUTICS CALLED THE N OF 1

3721
02:19:19,320 --> 02:19:20,760
COLLABORATIVE. I'M PART OF THE

3722
02:19:20,760 --> 02:19:21,920
STEERING COMMITTEE FOR THAT AND

3723
02:19:21,920 --> 02:19:24,080
I WANT TO INTRODUCE EVERYONE TO

3724
02:19:24,080 --> 02:19:25,720
OUR COLLABORATIVE AND WHAT WE

3725
02:19:25,720 --> 02:19:29,720
ARE TRYING TO ACHIEVE. WHAT I'M

3726
02:19:29,720 --> 02:19:31,800
GOING TO TRY TO WORK THREW TODAY

3727
02:19:31,800 --> 02:19:34,800
IN THIS BRIEF TALK IS HOW DID WE

3728
02:19:34,800 --> 02:19:36,280
GET WHERE WE ARE NOW AND WHY

3729
02:19:36,280 --> 02:19:37,120
NOW, WHY IS THE TIME TO BE

3730
02:19:37,120 --> 02:19:39,080
TRYING TO ADVANCE THIS TYPE OF

3731
02:19:39,080 --> 02:19:41,200
WORK. WHO ARE WE, WHAT IS OUR

3732
02:19:41,200 --> 02:19:44,400
MISSION, VISION AND VALUES? AND

3733
02:19:44,400 --> 02:19:45,520
STRUCTURALLY HOW ARE WE HOPING

3734
02:19:45,520 --> 02:19:48,400
TO TRY TO SUPPORT THIS TYPE OF N

3735
02:19:48,400 --> 02:19:52,720
OF 1 THERAPEUTICS IN THE BROADER

3736
02:19:52,720 --> 02:19:57,760
SENSE. MANY PEOPLE ARE FAMILIAR

3737
02:19:57,760 --> 02:20:02,440
WITH THE -- STORY THIS IS ARE IT

3738
02:20:02,440 --> 02:20:05,080
STARTED WITH TIM, MILA. MANY

3739
02:20:05,080 --> 02:20:08,640
PEOPLE MAY NOT REALIZE THAT WHY

3740
02:20:08,640 --> 02:20:11,320
AM I INVOLVED? THEY ARE FROM

3741
02:20:11,320 --> 02:20:12,440
COLORADO AND I WAS THEIR

3742
02:20:12,440 --> 02:20:14,320
TREATING PHYSICIAN AS THE TRIAL

3743
02:20:14,320 --> 02:20:15,920
PROGRESSED AND WE EVENTUALLY

3744
02:20:15,920 --> 02:20:20,520
BROUGHT IT BACK TO COLORADO.  SO

3745
02:20:20,520 --> 02:20:24,680
WE STARTED WITH A SINGLE PATIENT

3746
02:20:24,680 --> 02:20:28,320
APPROPRIATELY. MILA. AND WE HAVE

3747
02:20:28,320 --> 02:20:32,360
MOVED TO A WHOLE HOST OF OTHER

3748
02:20:32,360 --> 02:20:34,320
INITIATIVES THAT HAVE BEEN

3749
02:20:34,320 --> 02:20:36,840
ADVANCED BY VARIOUS GROUPS, BOB

3750
02:20:36,840 --> 02:20:45,120
BROWN, JOHN WATTS, KNEEL

3751
02:20:45,120 --> 02:20:46,160
SCHNEIDER, THEIR FASTK FORCE AND

3752
02:20:46,160 --> 02:20:49,040
OLIGONUCLEOTIDE SOCIETY, AMIKA

3753
02:20:49,040 --> 02:20:50,680
ALSO RUN BS THE DUTCH CENTER FOR

3754
02:20:50,680 --> 02:20:52,600
RNA THERAPEUTICS ADVANCE

3755
02:20:52,600 --> 02:20:54,240
ADVANCING N OF 1 THERAPIES IN

3756
02:20:54,240 --> 02:20:57,880
EUROPE AS WELL, AND STAN CROOK

3757
02:20:57,880 --> 02:21:01,960
AND LOREM AND FRANK BENNETT AND

3758
02:21:01,960 --> 02:21:03,320
THEIR SUPPORTING N OF 1

3759
02:21:03,320 --> 02:21:04,720
THERAPIES WITH THE KNOWLEDGE AND

3760
02:21:04,720 --> 02:21:10,520
EXPERIENCE I BRING TO BEAR.  SO

3761
02:21:10,520 --> 02:21:12,520
WHY NOW? WHY IS THIS THE RIGHT

3762
02:21:12,520 --> 02:21:15,320
MOMENT FOR US TO START TALKING

3763
02:21:15,320 --> 02:21:17,960
ABOUT N OF 1 THERAPIES? THERE IS

3764
02:21:17,960 --> 02:21:19,320
A FEW FACTORS THAT ARE IMPORTANT

3765
02:21:19,320 --> 02:21:21,920
HERE. CERTAINLY TECHNOLOGICAL

3766
02:21:21,920 --> 02:21:23,240
ADVANCEMENT. THIS WOULD IT HAVE

3767
02:21:23,240 --> 02:21:24,440
BEEN POSSIBLE FROM A

3768
02:21:24,440 --> 02:21:25,840
TECHNOLOGICAL PERSPECTIVE TEN

3769
02:21:25,840 --> 02:21:29,000
YEARS AGO.  THAT INCLUDES NEW

3770
02:21:29,000 --> 02:21:33,280
DRUG DEVELOPMENT, SOME OF THE

3771
02:21:33,280 --> 02:21:34,880
THINGS BART REFERRING TO ASO

3772
02:21:34,880 --> 02:21:37,480
CLASS OF DRUGS BUT ALSO CLASSES

3773
02:21:37,480 --> 02:21:40,320
OF DRUGS ADVANCEMENTS IN CRISPER

3774
02:21:40,320 --> 02:21:41,760
AS WELL AND OTHER TYPES OF GENE

3775
02:21:41,760 --> 02:21:44,320
EDITING PLATFORMS.  SO AS THESE

3776
02:21:44,320 --> 02:21:46,480
DRUGS DEVELOPMENT TECHNOLOGIES

3777
02:21:46,480 --> 02:21:48,320
MATURE TO A POINT THAT WE REALLY

3778
02:21:48,320 --> 02:21:51,280
ARE STARTING TO SEE CLINICAL

3779
02:21:51,280 --> 02:21:53,720
EXAMPLES, -- THESE TOOLS

3780
02:21:53,720 --> 02:21:55,920
UTILIZED IN PATIENTS, THE FDA

3781
02:21:55,920 --> 02:21:58,680
GUIDANCE IS A REALLY IMPORTANT

3782
02:21:58,680 --> 02:22:00,120
MARKER FOR US OF MATURATION OF

3783
02:22:00,120 --> 02:22:01,760
THIS FIELD AND THE NEEDS TO BE

3784
02:22:01,760 --> 02:22:03,920
ABLE TO START TO DEVELOP

3785
02:22:03,920 --> 02:22:04,840
INDIVIDUALIZED MEDICINE BUT

3786
02:22:04,840 --> 02:22:06,920
IDEALLY DO IT IN A COLLABORATIVE

3787
02:22:06,920 --> 02:22:10,000
WAY HA SUPPORTS CROSS LEARNING.

3788
02:22:10,000 --> 02:22:11,480
THANK YOU FOR GIVING SOME

3789
02:22:11,480 --> 02:22:13,360
INSIGHT TO THE FDA PERSPECTIVE

3790
02:22:13,360 --> 02:22:17,680
AROUND THIS. WE HAVE AN AN

3791
02:22:17,680 --> 02:22:18,760
EXPONENTIALLY INCREASING NUMBER

3792
02:22:18,760 --> 02:22:21,680
OF EFFORTS HAPPENING BY

3793
02:22:21,680 --> 02:22:24,120
DIFFERENT GROUPS, THIS CREATES A

3794
02:22:24,120 --> 02:22:26,000
NEED FOR HOW TO ORGANIZE

3795
02:22:26,000 --> 02:22:27,440
DIFFERENT EFFORTS IN ORDER TO

3796
02:22:27,440 --> 02:22:28,920
MAXIMIZE IMPACT OF ANY ONE

3797
02:22:28,920 --> 02:22:30,360
PROJECT. WE WANT TO THINK YES,

3798
02:22:30,360 --> 02:22:33,240
WE WANT TO IMPACT THIS

3799
02:22:33,240 --> 02:22:35,120
PARTICULAR PATIENT BEING TREATED

3800
02:22:35,120 --> 02:22:37,040
BUT ALSO WANT TO KNOW HOW DOES

3801
02:22:37,040 --> 02:22:41,440
THAT ADVANCE OVERALL SCIENCE

3802
02:22:41,440 --> 02:22:42,640
TOWARDS BEING ABLE TO TREAT MORE

3803
02:22:42,640 --> 02:22:44,200
PATIENTS.  FINALLY I WANT TO

3804
02:22:44,200 --> 02:22:45,640
TALK ABOUT THE ASO SPECIFICALLY

3805
02:22:45,640 --> 02:22:47,640
AND WHY ARE WE THINKING STARTING

3806
02:22:47,640 --> 02:22:51,320
WITH ASOs? OUR N OF ONE

3807
02:22:51,320 --> 02:22:52,440
COLLABORATIVE SHOT SPECIFIC TO

3808
02:22:52,440 --> 02:22:54,120
ASOs, WE ARE HAPPY TO SUPPORT

3809
02:22:54,120 --> 02:22:55,880
N OF 1 THERAPEUTICS ACROSS ANY

3810
02:22:55,880 --> 02:22:57,760
NUMBER OF TREATMENT MODALITIES.

3811
02:22:57,760 --> 02:22:59,280
BUT WE ARE STARTING WITH THE

3812
02:22:59,280 --> 02:23:02,120
THOUGHT PROCESS AROUND ASOs

3813
02:23:02,120 --> 02:23:05,320
BECAUSE THEY HAVE REALLY LED THE

3814
02:23:05,320 --> 02:23:07,960
WAY WITHIN THE N OF 1 SPACE.

3815
02:23:07,960 --> 02:23:10,320
THEY ARE RELATIVELY INEXPENSIVE

3816
02:23:10,320 --> 02:23:11,960
TO MANUFACTURE RELATIVELY. THEY

3817
02:23:11,960 --> 02:23:14,720
ARE RELATIVELY EASY TO DELIVER.

3818
02:23:14,720 --> 02:23:17,960
RELATIVELY. AND WE HAVE GROWING

3819
02:23:17,960 --> 02:23:20,520
SAFETY DATA THAT SUPPORTS THE

3820
02:23:20,520 --> 02:23:21,640
ABILITY TO PROVIDE TREATMENTS IN

3821
02:23:21,640 --> 02:23:24,160
PATIENTS.  AND FINALLY, THEY ARE

3822
02:23:24,160 --> 02:23:27,320
RAPIDLY CUSTOMIZABLE. THAT IS

3823
02:23:27,320 --> 02:23:30,760
NOT TO SAY GENE EDITING ORTHER

3824
02:23:30,760 --> 02:23:33,720
PIE -- THERAPIES OF OTHER TYPES

3825
02:23:33,720 --> 02:23:34,960
ARE NOT APPROPRIATE AS WELL AND

3826
02:23:34,960 --> 02:23:37,560
ADVANCING TOWARD N OF 1 STATUS

3827
02:23:37,560 --> 02:23:39,320
BUT THESE MAY PROVIDE ADDITIONAL

3828
02:23:39,320 --> 02:23:40,200
BARRIERS IN SOME OF THESE

3829
02:23:40,200 --> 02:23:42,520
DIFFERENT AREAS TO BE ABLE TO

3830
02:23:42,520 --> 02:23:43,360
ADVANCE THOSE IN THE NEAR

3831
02:23:43,360 --> 02:23:50,280
FUTURE. SO WHO ARE WE? THIS IS

3832
02:23:50,280 --> 02:23:52,600
TIM AND MILA AND MYSELF AND

3833
02:23:52,600 --> 02:23:55,120
JULIA WITH THAT FIRST CASE.

3834
02:23:55,120 --> 02:23:57,880
STARTING IN 2018. NOW YOU FAST

3835
02:23:57,880 --> 02:23:59,120
FORWARD FOUR YEARS AND YOU CAN

3836
02:23:59,120 --> 02:24:01,920
SEE RELATIVELY ZOOMED OUT MAP

3837
02:24:01,920 --> 02:24:04,000
THAT DEMONSTRATES, WE REPRESENT

3838
02:24:04,000 --> 02:24:05,240
A HUGE NUMBER OF ACADEMIC

3839
02:24:05,240 --> 02:24:09,120
MEDICAL CENTERS, COLLABORATORS,

3840
02:24:09,120 --> 02:24:10,160
INTERNATIONAL, NOT JUST

3841
02:24:10,160 --> 02:24:10,920
THROUGHOUT THE UNITED STATES BUT

3842
02:24:10,920 --> 02:24:14,120
ALSO IN EUROPE. AND LOOKING TO

3843
02:24:14,120 --> 02:24:16,240
EXPAND THIS FURTHER AND BE EVEN

3844
02:24:16,240 --> 02:24:19,640
MORE BROADLY COLLABORATIVE. THIS

3845
02:24:19,640 --> 02:24:20,760
IS WHAT OUR STEERING COMMITTEE

3846
02:24:20,760 --> 02:24:23,560
LOOKS LIKE AT THE MOMENT. I

3847
02:24:23,560 --> 02:24:25,680
WON'T GO THROUGH AND NAME EACH

3848
02:24:25,680 --> 02:24:27,000
INDIVIDUAL HERE WHO REPRESENTS

3849
02:24:27,000 --> 02:24:28,920
SOME ASPECT OF EXPERTISE BEING

3850
02:24:28,920 --> 02:24:32,320
BROUGHT TO THE TABLE FOR N OF 1

3851
02:24:32,320 --> 02:24:33,520
COLLABORATIVE. IT IS A MIXTURE

3852
02:24:33,520 --> 02:24:35,560
OF CLINICIANS WHO HAVE BEEN

3853
02:24:35,560 --> 02:24:38,880
INVOLVED IN N OF 1 TREATMENT

3854
02:24:38,880 --> 02:24:39,800
LIKE MYSELF, Ph.D. ET CETERA

3855
02:24:39,800 --> 02:24:41,560
AND BASIC SCIENTIST WHOSE ARE

3856
02:24:41,560 --> 02:24:46,560
DESIGNING ASOs, THOSE WITH FDA

3857
02:24:46,560 --> 02:24:48,160
EXPERIENCE PATIENT ADVOCATES,

3858
02:24:48,160 --> 02:24:49,720
REALLY A HOST OF DIFFERENT

3859
02:24:49,720 --> 02:24:53,520
INDIVIDUALS WHO ARE BRINGING A

3860
02:24:53,520 --> 02:24:54,640
VARIETY OF DIFFERENT BACKGROUNDS

3861
02:24:54,640 --> 02:24:57,080
AND EXPERTISE TO THE TABLE TO

3862
02:24:57,080 --> 02:25:00,720
HELP US TO BE ABLE TO ADVANCE

3863
02:25:00,720 --> 02:25:02,440
SAFELY AND RESPONSIBLY N OF 1

3864
02:25:02,440 --> 02:25:03,520
CLINICAL TRIALS FOR CLAIRE

3865
02:25:03,520 --> 02:25:06,400
DISEASES. -- RARE DISEASES. I

3866
02:25:06,400 --> 02:25:08,200
ALSO WANT TO NOTE THANKS TO NIH

3867
02:25:08,200 --> 02:25:14,480
FOR HOSTING THIS AND TO DON LO

3868
02:25:14,480 --> 02:25:19,560
AND BRIAN TRANYON AND AUDREY

3869
02:25:19,560 --> 02:25:20,520
THURM WHO STRONG ADVOCATES AND

3870
02:25:20,520 --> 02:25:24,600
EXPERTS PROVIDING US INSIGHTS.  

3871
02:25:24,600 --> 02:25:26,520
WHAT IS OUR MISSION VISION AND

3872
02:25:26,520 --> 02:25:29,040
VALUES AS AN ORGANIZATION?

3873
02:25:29,040 --> 02:25:31,320
SIMPLY PUT, OUR MISSION IS TO

3874
02:25:31,320 --> 02:25:33,440
MAKE INDIVIDUALIZED GENETIC

3875
02:25:33,440 --> 02:25:35,720
MEDICINES SAFELY AND RAPIDLY

3876
02:25:35,720 --> 02:25:36,520
ACCESSIBLE TO PATIENTS

3877
02:25:36,520 --> 02:25:39,560
WORLDWIDE.  THAT IS A PRETTY

3878
02:25:39,560 --> 02:25:42,240
SIMPLE STATEMENT, BUT A BOLD

3879
02:25:42,240 --> 02:25:44,280
MISSION AND CERTAINLY NOT SO

3880
02:25:44,280 --> 02:25:48,200
SIMPLE TO ACTUALIZE THE VISION

3881
02:25:48,200 --> 02:25:51,600
THAT SUPPORTS IS A FUTURE ARE

3882
02:25:51,600 --> 02:25:52,720
INDIVIDUALIZED MEDICINE CENTERS

3883
02:25:52,720 --> 02:25:54,840
AROUND THE WORLD ROUTINELY OFFER

3884
02:25:54,840 --> 02:25:56,200
PATIENTS CUSTOMIZE TREATMENTS

3885
02:25:56,200 --> 02:25:57,400
TARGETING CONDITIONS UNDERLYING

3886
02:25:57,400 --> 02:26:01,880
GENETIC CAUSE.  THAT IS A

3887
02:26:01,880 --> 02:26:02,880
ROMANTIC BEAUTIFUL VISION THAT

3888
02:26:02,880 --> 02:26:03,720
TAKES A LOT OF WORK TO GET

3889
02:26:03,720 --> 02:26:07,240
THERE. SO IN ORDER THE ACHIEVE

3890
02:26:07,240 --> 02:26:08,800
THAT WE MUST PIONEER DRUG

3891
02:26:08,800 --> 02:26:11,280
DEVELOPMENT FOR INDIVIDUALIZED

3892
02:26:11,280 --> 02:26:13,720
PATIENTS, THROUGH TWO MAIN

3893
02:26:13,720 --> 02:26:16,800
AREAS, FOSTERING COLLABORATION

3894
02:26:16,800 --> 02:26:18,360
AND NURTURING THE FIELD. WHAT DO

3895
02:26:18,360 --> 02:26:20,360
WE MEAN BY FOSTERING

3896
02:26:20,360 --> 02:26:21,280
COLLABORATION, ESTABLISHING

3897
02:26:21,280 --> 02:26:22,840
COMMUNITY EXPECTATIONS AMONG THE

3898
02:26:22,840 --> 02:26:25,080
SCIENTIFIC MEDICAL AND PATIENT

3899
02:26:25,080 --> 02:26:27,680
COMMUNITIES. BEST PRACTICES,

3900
02:26:27,680 --> 02:26:29,840
SAFETY AND QUALITY STANDARDS AN

3901
02:26:29,840 --> 02:26:30,520
ENSURING CLINICAL TRIAL

3902
02:26:30,520 --> 02:26:31,880
READINESS FOR THE INDIVIDUALS

3903
02:26:31,880 --> 02:26:34,880
WHO MAY BE TREATED.  HOW DO WE

3904
02:26:34,880 --> 02:26:36,440
NURTURE THE FIELD, PICKING THE

3905
02:26:36,440 --> 02:26:38,400
RIGHT CASE, PICKING CASE ACE

3906
02:26:38,400 --> 02:26:41,440
MENNABLE TO SUCCESS, PICKING

3907
02:26:41,440 --> 02:26:44,240
CASES WITH WHERE SAFETY IS GOING

3908
02:26:44,240 --> 02:26:46,840
TO BE MORE LIKELY. MINIMIZING

3909
02:26:46,840 --> 02:26:49,600
DUPLICATION OF PRE-CLINICAL AND

3910
02:26:49,600 --> 02:26:51,200
CLINICAL EFFORTS. THIS IS

3911
02:26:51,200 --> 02:26:52,000
IMPORTANT PARTICULARLY IN THE

3912
02:26:52,000 --> 02:26:54,640
FORM OF DATA SHARING. HOW DO WE

3913
02:26:54,640 --> 02:26:56,680
SHARE BOTH IN THE PRE-CLINICAL

3914
02:26:56,680 --> 02:26:57,720
AND CLINICAL SPACE SO WE HAVE

3915
02:26:57,720 --> 02:26:59,520
CROSS LEARNINGS AND SUPPORT CASE

3916
02:26:59,520 --> 02:27:01,600
CONFERENCES, SAFETY DATABASES,

3917
02:27:01,600 --> 02:27:05,520
CROSS REFERENCING VARIOUS INDs

3918
02:27:05,520 --> 02:27:07,840
SUBMITTED AND WORKING TOWARDS

3919
02:27:07,840 --> 02:27:09,240
HARMONIZING GLOBAL EFFORTS AT

3920
02:27:09,240 --> 02:27:14,120
VARIOUS STAGES.  OUR VALUES ARE

3921
02:27:14,120 --> 02:27:16,480
AROUND SCIENTIFIC RIGOR, URGENCY

3922
02:27:16,480 --> 02:27:19,480
COMMENSURATE WITH THE NEED. AND

3923
02:27:19,480 --> 02:27:21,040
MULTI-STAKEHOLDER COLLABORATION.

3924
02:27:21,040 --> 02:27:22,160
THESE ARE REALLY THE PILLAR

3925
02:27:22,160 --> 02:27:24,400
WHICH IS WE THINK WE CAN ADVANCE

3926
02:27:24,400 --> 02:27:25,080
THESE -- THIS MISSION AND

3927
02:27:25,080 --> 02:27:31,080
VISION.  STRUCTURALLY HOW DO WE

3928
02:27:31,080 --> 02:27:32,760
SUPPORT THIS? THE STEERING

3929
02:27:32,760 --> 02:27:34,480
COMMITTEE, BRIEFLY INTRODUCED

3930
02:27:34,480 --> 02:27:37,000
YOU TO, IS SUPPORTED BY NUMBER

3931
02:27:37,000 --> 02:27:39,040
OF WORKING GROUPS TRYING TO

3932
02:27:39,040 --> 02:27:43,120
ADVANCE THE VARIOUS STAGES THAT

3933
02:27:43,120 --> 02:27:45,120
REQUIRED TO MOVE FROM PATIENT

3934
02:27:45,120 --> 02:27:46,200
SELECTION ALL THE WAY TO

3935
02:27:46,200 --> 02:27:48,720
ACTUALLY TREATING A PATIENT. WE

3936
02:27:48,720 --> 02:27:50,440
BUCKETED THAT INTO THE PATIENT

3937
02:27:50,440 --> 02:27:53,440
SELECTION WORKING GROUP, SAFETY

3938
02:27:53,440 --> 02:27:54,960
AND TOXICITY CLINICAL OUTCOMES

3939
02:27:54,960 --> 02:27:56,920
AND ONE CAN THROW IN BIOMARKERS

3940
02:27:56,920 --> 02:27:58,800
ASSOCIATED WITH THAT. 

3941
02:27:58,800 --> 02:28:01,320
INSTITUTIONAL IMPLEMENTATION,

3942
02:28:01,320 --> 02:28:03,520
WHICH IS ALL OF THE THINGS THAT

3943
02:28:03,520 --> 02:28:05,320
ARE NOT SEXY BUT CHALLENGING TO

3944
02:28:05,320 --> 02:28:09,000
GET THROUGH. AND THEN REALLY

3945
02:28:09,000 --> 02:28:12,720
IMPORTANTLY ETHICS AND EQUITY.  

3946
02:28:12,720 --> 02:28:14,840
WITHIN EACH OF THESE, THIS IS

3947
02:28:14,840 --> 02:28:15,720
JUST A FLAVOR OF WHAT ARE SOME

3948
02:28:15,720 --> 02:28:18,080
OF THE TYPES OF WORK THAT THOSE

3949
02:28:18,080 --> 02:28:19,880
WORKING GROUPS ARE TRYING TO

3950
02:28:19,880 --> 02:28:21,640
ADVANCE. WHAT WOULD ALGORITHMS

3951
02:28:21,640 --> 02:28:22,920
LOOK LIKE FOR PATIENT SELECTION

3952
02:28:22,920 --> 02:28:25,240
THAT WOULD HELP TO ENSURE SAFETY

3953
02:28:25,240 --> 02:28:28,960
AND SUCCESS.  CAN WE DEVELOP

3954
02:28:28,960 --> 02:28:31,640
CASE DOSSIERS TO BE ABLE TO

3955
02:28:31,640 --> 02:28:32,440
SUPPORT ADVANCEMENT AND

3956
02:28:32,440 --> 02:28:35,280
IDENTIFICATION OF PATIENTS CAN

3957
02:28:35,280 --> 02:28:37,440
WE CONNECT WITH NEXT GENERATION

3958
02:28:37,440 --> 02:28:39,000
SEQUENCING PIPELINES TO AGAIN BE

3959
02:28:39,000 --> 02:28:40,720
ABLE TO IDENTIFY PATIENTS IN A

3960
02:28:40,720 --> 02:28:42,600
MORE EQUITABLE FASHION BASED ON

3961
02:28:42,600 --> 02:28:44,720
SCIENTIFIC PRINCIPLES THAT ARE

3962
02:28:44,720 --> 02:28:46,000
BEING FURTHER ELUCIDATED AS WE

3963
02:28:46,000 --> 02:28:49,280
ADVANCE THIS WORK. AND THEN CAN

3964
02:28:49,280 --> 02:28:51,240
WE PROSPECTIVELY VALIDATE THAT

3965
02:28:51,240 --> 02:28:52,720
WORK TO SEE HOW WELL ARE WE

3966
02:28:52,720 --> 02:28:58,240
DOING AT TRYING TO SAFELY

3967
02:28:58,240 --> 02:29:00,520
EQUITABLY AND APPROPRIATELY

3968
02:29:00,520 --> 02:29:04,600
SELECT CASES. SAFETY AND

3969
02:29:04,600 --> 02:29:06,920
TOXICITY. REALLY THIS COMES DOWN

3970
02:29:06,920 --> 02:29:10,280
TO DATA SHARING EFFORTSK WE CAN

3971
02:29:10,280 --> 02:29:12,320
GET INTO THE NITTY-GRITTY

3972
02:29:12,320 --> 02:29:13,880
AGREEMENT TEMPLATES BUT ALSO

3973
02:29:13,880 --> 02:29:15,920
DATABASE INFRASTRUCTURE, HOW DO

3974
02:29:15,920 --> 02:29:17,760
WE MAKE SURE IF THE WE SEE

3975
02:29:17,760 --> 02:29:20,320
CERTAIN PROPERTIES AROUND WITH A

3976
02:29:20,320 --> 02:29:21,960
PARTICULAR DESIGN THAT CAUSES

3977
02:29:21,960 --> 02:29:25,080
MORE TOXICITY, THAT WE MAKE THAT

3978
02:29:25,080 --> 02:29:26,320
INFORMATION AVAILABLE SO OTHER

3979
02:29:26,320 --> 02:29:28,520
GROUPS TRYING TO DESIGN ASOs

3980
02:29:28,520 --> 02:29:30,720
CAN BENEFIT FROM THAT AND NOT

3981
02:29:30,720 --> 02:29:32,320
DUPLICATE THAT WORK LEADING TO A

3982
02:29:32,320 --> 02:29:35,440
BLIND ALLEY IN THE PROCESS. 

3983
02:29:35,440 --> 02:29:38,240
CLINICAL OUTCOMES IS A

3984
02:29:38,240 --> 02:29:41,520
COMPLICATED AREA OF WORK FOR US

3985
02:29:41,520 --> 02:29:44,400
TO ADVANCE, RARE DISEASES

3986
02:29:44,400 --> 02:29:45,480
STRUGGLE WITH CLINICAL OUTCOME

3987
02:29:45,480 --> 02:29:47,000
MEASURES AS A WHOLE IN MANY

3988
02:29:47,000 --> 02:29:50,440
CASES AND THEN WE TAKE RARE

3989
02:29:50,440 --> 02:29:52,720
DISEASE TO THE ALTER N OF 1 AREA

3990
02:29:52,720 --> 02:29:54,800
THIS BECOMES MORE AN ISSUE. WE

3991
02:29:54,800 --> 02:29:55,800
WANT TO MAKE SURE OUTCOME

3992
02:29:55,800 --> 02:29:57,080
MEASURES ARE APPROPRIATELY

3993
02:29:57,080 --> 02:29:58,440
REPRESENTING BOTH SAFETY AND

3994
02:29:58,440 --> 02:30:00,800
EFFICACY TO THE EXTENT POSSIBLE

3995
02:30:00,800 --> 02:30:03,560
AND WOULD LIKE TO WORK TOWARDS

3996
02:30:03,560 --> 02:30:05,400
THINGS LIKE MEASUREMENT TOOL

3997
02:30:05,400 --> 02:30:06,960
KITS AND DATA SHARING PLATFORMS

3998
02:30:06,960 --> 02:30:09,080
TO ALLOW US TO UNDERSTAND AND

3999
02:30:09,080 --> 02:30:10,880
ASSESS ONGOING BASIS HOW WELL

4000
02:30:10,880 --> 02:30:12,320
VARIOUS MEASURES ARE WORKING AND

4001
02:30:12,320 --> 02:30:13,720
WHETHER THERE'S ADDITIONAL

4002
02:30:13,720 --> 02:30:15,800
REFINEMENT THAT MIGHT BE

4003
02:30:15,800 --> 02:30:18,120
NECESSARY AS WELL AS TO BRING

4004
02:30:18,120 --> 02:30:20,880
NEW MEASURES TO BEAR AS THEY ARE

4005
02:30:20,880 --> 02:30:22,080
DEVELOPED. INSTITUTIONAL

4006
02:30:22,080 --> 02:30:24,400
IMPLEMENTATION IS SORT OF ABOUT

4007
02:30:24,400 --> 02:30:25,640
RESOURCE SHARING. WHAT ARE THE

4008
02:30:25,640 --> 02:30:27,280
CHECKLISTS AND TEMPLATES THAT

4009
02:30:27,280 --> 02:30:28,720
MIGHT BE NECESSARY TO BE ABLE TO

4010
02:30:28,720 --> 02:30:30,240
GET AN N OF ONE STUDY UP AND

4011
02:30:30,240 --> 02:30:31,160
RUNNING AT A PARTICULAR

4012
02:30:31,160 --> 02:30:34,640
INSTITUTION. THEN FINALLY ETHICS

4013
02:30:34,640 --> 02:30:37,320
AND EQUITY AROUND CONVENING OPEN

4014
02:30:37,320 --> 02:30:39,720
DISCUSSION.  AND SUPPORT BEST

4015
02:30:39,720 --> 02:30:41,520
PRACTICES. SO WE WANT TO BE ABLE

4016
02:30:41,520 --> 02:30:45,280
TO HAVE A FORUM TO RAISE ETHICAL

4017
02:30:45,280 --> 02:30:46,800
CONCERNS OR ISSUINGS THAT MAY

4018
02:30:46,800 --> 02:30:48,480
ARISE IN THIS NEW FRONTIER OF

4019
02:30:48,480 --> 02:30:52,520
MEDICINE.  WE WANT TO BE ABLE TO

4020
02:30:52,520 --> 02:30:55,240
DERIVE FROM THOSE DISCUSSIONS

4021
02:30:55,240 --> 02:30:57,080
SOME RECOMMENDATIONS AROUND BEST

4022
02:30:57,080 --> 02:31:00,080
PRACTICES, AND HOW WE CAN

4023
02:31:00,080 --> 02:31:01,120
SUPPORT EQUITY ETHICAL

4024
02:31:01,120 --> 02:31:02,960
APPROPRIATENESS OF VARIOUS

4025
02:31:02,960 --> 02:31:06,120
RAPIDLY EVOLVING SCIENTIFIC

4026
02:31:06,120 --> 02:31:07,320
CASES, TO BEST SUPPORT ANY

4027
02:31:07,320 --> 02:31:10,120
PATIENT THAT IS IN A TRIAL OR

4028
02:31:10,120 --> 02:31:13,640
THAT MAY BE IN A TRIAL IN THE

4029
02:31:13,640 --> 02:31:14,880
FUTURE. UNDERPINNING TO THIS

4030
02:31:14,880 --> 02:31:16,200
WORK IS COLLABORATIVE

4031
02:31:16,200 --> 02:31:16,920
DISCUSSION, LEARNING AND DATA

4032
02:31:16,920 --> 02:31:19,720
SHARING.  WE WANT TO BE

4033
02:31:19,720 --> 02:31:21,280
COMMITTED TO DISSEMINATION

4034
02:31:21,280 --> 02:31:23,520
THROUGH VARIOUS FORUMS, TO BE

4035
02:31:23,520 --> 02:31:24,760
ABLE TO MAKE SURE THAT THERE'S

4036
02:31:24,760 --> 02:31:26,440
OPEN ACCESS TO THE DATA AND

4037
02:31:26,440 --> 02:31:27,520
LEARNINGS THAT WE ALL ARE

4038
02:31:27,520 --> 02:31:32,160
CONTRIBUTING TO. WITH THAT, I

4039
02:31:32,160 --> 02:31:34,120
WOULD LIKE TO THANK THE NIH AND

4040
02:31:34,120 --> 02:31:37,240
NCATS ORGANIZERS FOR THE RARE

4041
02:31:37,240 --> 02:31:38,560
DISEASE DAY AND MOST OF ALL

4042
02:31:38,560 --> 02:31:39,640
THANK ALL OUR PATIENTS AND

4043
02:31:39,640 --> 02:31:41,840
FAMILIES WITH RARE DISEASES THAT

4044
02:31:41,840 --> 02:31:42,920
BRING MEANING TO THE WORK THAT

4045
02:31:42,920 --> 02:31:46,840
WE DO. AND I THINK FOR MANY OF

4046
02:31:46,840 --> 02:31:49,800
US, WHY WE ARE IN THE CAREERS

4047
02:31:49,800 --> 02:31:52,400
THAT WE ARE, FINALLY THE N 1C OR

4048
02:31:52,400 --> 02:31:55,560
N OF 1 COLLABORATIVE IS NOT AN

4049
02:31:55,560 --> 02:31:57,440
EXCLUSIVE CLUB, WE ARE AN OPEN

4050
02:31:57,440 --> 02:31:58,680
COLLABORATIVE CLUB BUILT INTO

4051
02:31:58,680 --> 02:32:00,440
THE NAME AND YOU ARE ALL

4052
02:32:00,440 --> 02:32:02,600
WELCOME, PLEASE REACH OUT TO US,

4053
02:32:02,600 --> 02:32:10,640
U EMAIL AT INFO@NOF1

4054
02:32:10,640 --> 02:32:14,320
COLLABORATIVE.ORG OR WEBSITE AND

4055
02:32:14,320 --> 02:32:16,560
THERE IS AN INTAKE TO HELP US BE

4056
02:32:16,560 --> 02:32:18,240
IN TOUCH WITH YOU AND HELP US

4057
02:32:18,240 --> 02:32:20,040
CONNECT AS WE,AND OUR

4058
02:32:20,040 --> 02:32:20,960
INITIATIVE. AND WANT TO

4059
02:32:20,960 --> 02:32:21,920
COMMUNICATE THE A BROADER

4060
02:32:21,920 --> 02:32:28,520
COMMUNITY.  THANK YOU VERY MUCH.

4061
02:32:28,520 --> 02:32:39,320
WWW.N1COLLABORATIVE.ORG. 

4062
02:32:39,320 --> 02:32:41,640
>> HI, GOOD AFTERNOON, IT IS MY

4063
02:32:41,640 --> 02:32:42,880
PLEASURE TO SPEAK TODAY AFTER

4064
02:32:42,880 --> 02:32:44,080
THE WONDERFUL TALKS YOU HAVE

4065
02:32:44,080 --> 02:32:47,600
ALREADY HAD SO FAR ABOUT THESE N

4066
02:32:47,600 --> 02:32:49,320
OF 1 PROCESSES. I WILL SHIFT A

4067
02:32:49,320 --> 02:32:52,280
TINY BIT TO THINK HOW WE MIGHT

4068
02:32:52,280 --> 02:32:55,240
DO N OF SMALL AND HOW WE MIGHT

4069
02:32:55,240 --> 02:32:56,600
THINK HOW WE BEST SUPPORT THE

4070
02:32:56,600 --> 02:32:59,720
OUTCOME MEASURES DR. DEMAREST

4071
02:32:59,720 --> 02:33:00,640
DISCUSSED SO DIFFICULT TO

4072
02:33:00,640 --> 02:33:04,760
UNDERSTAND. GOING TO TAKE THE

4073
02:33:04,760 --> 02:33:05,280
FRAMEWORK OF RAKE LIEU

4074
02:33:05,280 --> 02:33:06,520
CO-DYSTROPHIES. THAT WHAT I DO

4075
02:33:06,520 --> 02:33:08,720
AND I STUDY LEUKODYSTROPHIES

4076
02:33:08,720 --> 02:33:11,000
WITH THE CHILDREN'S HOSPITAL OF

4077
02:33:11,000 --> 02:33:12,880
PHILADELPHIA IN THE

4078
02:33:12,880 --> 02:33:13,920
LEUKODYSTROPHY CENTER OF

4079
02:33:13,920 --> 02:33:17,400
EXCELLENCE. WE DO RECEIVE

4080
02:33:17,400 --> 02:33:18,040
SUPPORT FOR DEVELOPING CLINICAL

4081
02:33:18,040 --> 02:33:19,080
TRIALS FROM A NUMBER OF

4082
02:33:19,080 --> 02:33:21,320
DIFFERENT FEDERAL AND

4083
02:33:21,320 --> 02:33:23,720
NON-FEDERAL AGENCIES AS WELL AS

4084
02:33:23,720 --> 02:33:26,280
WE COLLABORATE WITH OUR INDUSTRY

4085
02:33:26,280 --> 02:33:27,560
PARTNERS WITHOUT RECEIVING

4086
02:33:27,560 --> 02:33:30,440
PERSONAL COMPENSATION. I ALSO

4087
02:33:30,440 --> 02:33:32,120
WANT TO EXPLAIN THAT I THINK

4088
02:33:32,120 --> 02:33:33,720
MUCH LIKE DR. DEMAREST ALREADY

4089
02:33:33,720 --> 02:33:36,080
AND OTHERS ON THE TALK ALREADY

4090
02:33:36,080 --> 02:33:37,720
EMPHASIZED, IT IS SO IMPORTANT

4091
02:33:37,720 --> 02:33:39,520
IN THESE DIFFICULT AREAS OF THE

4092
02:33:39,520 --> 02:33:41,080
FOREFRONT TO THINK HOW WE CAN

4093
02:33:41,080 --> 02:33:42,920
BEST OPTIMIZE OUR PROCEDURES AND

4094
02:33:42,920 --> 02:33:43,920
OFTEN THAT MEANS THINKING

4095
02:33:43,920 --> 02:33:45,600
TOGETHER AS A GROUP. IN MY CASE

4096
02:33:45,600 --> 02:33:48,240
THAT INCLUDES A CLINICAL

4097
02:33:48,240 --> 02:33:50,640
ADVISORY BOARD FOR ONE SPECIFIC

4098
02:33:50,640 --> 02:33:53,640
LEUKODYSTROPHY CALLED HABC WITH

4099
02:33:53,640 --> 02:34:00,360
DR. LORI JEN JUSTINE SHALTS AND

4100
02:34:00,360 --> 02:34:03,360
MARVO KNAAP AS WELL AS WONDERFUL

4101
02:34:03,360 --> 02:34:06,160
SCIENTISTS ON OUR TIME, DR. SASE

4102
02:34:06,160 --> 02:34:10,320
AND DR. PATEL. I WILL TALK ABOUT

4103
02:34:10,320 --> 02:34:12,080
HOW WE APPROACH CLINICAL TRIAL

4104
02:34:12,080 --> 02:34:13,680
READINESS IN LEUKODYSTROPHIES. 

4105
02:34:13,680 --> 02:34:15,000
WE NEED TO FILL THIS SPACE OF

4106
02:34:15,000 --> 02:34:17,120
RARE DISEASE AND NEED FOR BETTER

4107
02:34:17,120 --> 02:34:19,640
OUTCOME MEASURES, IN ORDER TO BE

4108
02:34:19,640 --> 02:34:20,320
READY FOR THE CLINICAL TRIALS

4109
02:34:20,320 --> 02:34:22,040
THAT ARE EMERGING BOTH IN

4110
02:34:22,040 --> 02:34:23,640
ANTISENSE THERAPY AND OTHER

4111
02:34:23,640 --> 02:34:25,120
APPROACHES AND WE WERE LUCKY

4112
02:34:25,120 --> 02:34:26,440
ENOUGH TO PARTNER WITH AND

4113
02:34:26,440 --> 02:34:28,720
RECEIVE FUNDING FROM THE RDCRN

4114
02:34:28,720 --> 02:34:31,040
AN NIH FUNDED RARE DISEASE

4115
02:34:31,040 --> 02:34:35,320
CONSORTIUM AND TO FUND THE

4116
02:34:35,320 --> 02:34:36,600
GLOBAL CLINICAL TRIAL NETWORK A

4117
02:34:36,600 --> 02:34:39,080
CONSORTIUM OF 8 US-BASED CENTERS

4118
02:34:39,080 --> 02:34:41,520
FOCUSED ON LEUKODYSTROPHIES.  

4119
02:34:41,520 --> 02:34:42,520
SPECIFICALLY FOR THIS TALK I'M

4120
02:34:42,520 --> 02:34:44,280
GOING TO SHOWCASE A DISORDER

4121
02:34:44,280 --> 02:34:53,960
CALLED AHBC, OR LEUKODYSTROPHY.

4122
02:34:53,960 --> 02:34:55,080
YEARS AGO WE IDENTIFIED THE

4123
02:34:55,080 --> 02:34:59,240
CAUSE OF THE DISORDERS EARLY

4124
02:34:59,240 --> 02:35:01,560
2000s, WITH HYPOMILY NATION

4125
02:35:01,560 --> 02:35:03,600
WITH ATROPHY AT THE BASAL

4126
02:35:03,600 --> 02:35:06,120
GANGLIA AND CEREBELLUM. AND WE

4127
02:35:06,120 --> 02:35:07,360
REALIZE THESE CHILDREN FOLLOWED

4128
02:35:07,360 --> 02:35:08,120
A SOMEWHAT WE THOUGHT

4129
02:35:08,120 --> 02:35:10,040
PREDICTABLE COURSE OF HAVING

4130
02:35:10,040 --> 02:35:11,720
EARLY ONSET NORMAL MOTOR

4131
02:35:11,720 --> 02:35:13,320
MILESTONES AND THEN FOLLOWED BY

4132
02:35:13,320 --> 02:35:15,760
A LOSS OF MOTOR MILESTONES AND

4133
02:35:15,760 --> 02:35:19,320
SPEECH, CAUSED BY DYSTONIA AND

4134
02:35:19,320 --> 02:35:20,880
DISPLASTICITY. OVER TIME IT WAS

4135
02:35:20,880 --> 02:35:23,720
IDENTIFIED THAT THE SAME GENE

4136
02:35:23,720 --> 02:35:25,320
COULD CAUSE WITH DIFFERENT

4137
02:35:25,320 --> 02:35:28,120
MUTATIONS COULD CAUSE A ADULT

4138
02:35:28,120 --> 02:35:31,640
ONSET DIS DYSTONIA, EARLY

4139
02:35:31,640 --> 02:35:34,480
INFANTILE ENCEPHALOPATHY WITH

4140
02:35:34,480 --> 02:35:35,560
SEIZURE AND DEVELOPMENTAL DELAY

4141
02:35:35,560 --> 02:35:38,560
AND MILDER SYMPTOMS LIKE

4142
02:35:38,560 --> 02:35:40,600
PARAPLEGIA. WE ALSO RECOGNIZED

4143
02:35:40,600 --> 02:35:44,160
AND LOOKING AT CAUSES OF

4144
02:35:44,160 --> 02:35:47,040
LEUKODYSTROPHIES OVERALL TUBB 4A

4145
02:35:47,040 --> 02:35:49,920
IS THE SECOND MORE COMMON

4146
02:35:49,920 --> 02:35:52,400
LEUKODYSTRO DYSTROPHY SO WHILE A

4147
02:35:52,400 --> 02:35:54,560
RARE DISEASE WE ARE FACING A

4148
02:35:54,560 --> 02:35:56,240
REAL UNMET NEED TO HAVE THE

4149
02:35:56,240 --> 02:35:59,200
PATIENT POPULATION.  SO THOSE

4150
02:35:59,200 --> 02:36:02,080
WHO NEVER HEARD OF TUBB 4A, IT

4151
02:36:02,080 --> 02:36:03,840
IS ONE OF NUMBER OF TUBE LYNN

4152
02:36:03,840 --> 02:36:06,280
ASSOCIATED PROTEINS, A DIMERIZES

4153
02:36:06,280 --> 02:36:08,160
WITH AN ALPHA TUBE LYNN AND

4154
02:36:08,160 --> 02:36:10,320
AGAIN EACH CELL MAKES NUMBER OF

4155
02:36:10,320 --> 02:36:11,760
DIFFERENT KINDS, IT IS ASSUMED

4156
02:36:11,760 --> 02:36:13,720
THAT THE MUTATIONS INVOLVED

4157
02:36:13,720 --> 02:36:15,000
CAUSE PROBLEMS WITH BOTH

4158
02:36:15,000 --> 02:36:16,680
DIMERIZATION OF ALPHA AND BETA

4159
02:36:16,680 --> 02:36:17,920
TUBE LYNN SUB UNIT AND THE

4160
02:36:17,920 --> 02:36:19,920
ASSEMBLY AND DISASSEMBLY OF

4161
02:36:19,920 --> 02:36:22,720
THOSE DIMERS INTO MICROTUBULES. 

4162
02:36:22,720 --> 02:36:26,480
THEY ARE IMPORTANT FOR THE CELLS

4163
02:36:26,480 --> 02:36:27,920
ABILITY TO BOTH TRAFFIC

4164
02:36:27,920 --> 02:36:29,440
INFORMATION THROUGHOUT THE CELL

4165
02:36:29,440 --> 02:36:31,680
AND TO BUILD EXTENSIONS THAT THE

4166
02:36:31,680 --> 02:36:32,760
CELL MIGHT NEED AND YOU CAN

4167
02:36:32,760 --> 02:36:34,360
IMAGINE THOSE MIGHT BE

4168
02:36:34,360 --> 02:36:35,240
PARTICULARLY IMPORTANT TO BRAIN

4169
02:36:35,240 --> 02:36:41,320
CELLS.  WE WERE ABLE AMONG

4170
02:36:41,320 --> 02:36:43,040
OTHERS TO MODEL THIS DISEASE IN

4171
02:36:43,040 --> 02:36:45,040
MICE AND WE WERE ABLE TO SHOW

4172
02:36:45,040 --> 02:36:46,800
THAT THE MOUSE HAS FEATURES OF

4173
02:36:46,800 --> 02:36:49,080
DISEASE THAT ARE SIMILAR TO THAT

4174
02:36:49,080 --> 02:36:50,920
SAME HUMANS, THEY HAVE ATROPHY

4175
02:36:50,920 --> 02:36:53,080
OF CEREBELLUM IN THE BOTTOM

4176
02:36:53,080 --> 02:36:54,720
RIGHT AND GREEN SLIDES WITH THE

4177
02:36:54,720 --> 02:36:56,120
RED MOUSE BEING MOUSE THAT IS

4178
02:36:56,120 --> 02:36:58,720
AFFECTED BY TUBB 4A AND DECREASE

4179
02:36:58,720 --> 02:37:02,920
MYELIN AS WE SEE IN THE PEOPLE

4180
02:37:02,920 --> 02:37:07,320
AFFECTED BY TAUPE RACE

4181
02:37:07,320 --> 02:37:12,280
LEUKODYSTRO DYSTROPHY AND MICE

4182
02:37:12,280 --> 02:37:14,280
HAD INCREASED SURVIVAL. WE HAVE

4183
02:37:14,280 --> 02:37:18,640
ALSO BEEN ABLE TO SHOW THAT IT

4184
02:37:18,640 --> 02:37:19,640
IS POSSIBLE TO CHANGE THE

4185
02:37:19,640 --> 02:37:21,960
OUTCOME OF THOSE MICE AND TO

4186
02:37:21,960 --> 02:37:23,520
ACTUALLY TREAT THEM WITH

4187
02:37:23,520 --> 02:37:25,640
ANTISENSE. SO WE ARE ABLE TO

4188
02:37:25,640 --> 02:37:27,320
SHOW THAT WE CAN REDUCE THE

4189
02:37:27,320 --> 02:37:29,520
MOTOR IMPAIRMENT, REDUCE

4190
02:37:29,520 --> 02:37:32,120
SURVIVAL, REDUCE OTHER

4191
02:37:32,120 --> 02:37:33,760
ASSOCIATED FEATURES SUCH AS

4192
02:37:33,760 --> 02:37:34,400
SEIZURE AND IMPROVE THINGS WE

4193
02:37:34,400 --> 02:37:36,240
CAN SEE UNDER MICROSCOPE LIKE

4194
02:37:36,240 --> 02:37:39,880
IMPROVED MILY NATION AND CHANGE

4195
02:37:39,880 --> 02:37:43,120
CEREBELLUM AFRO PHI. SO THAT

4196
02:37:43,120 --> 02:37:45,320
CAUSED US TO -- ATROPHY. THAT

4197
02:37:45,320 --> 02:37:47,320
CAUSED US TO THINK ABOUT HOW TO

4198
02:37:47,320 --> 02:37:48,480
DEVELOP CLINICAL TRIALS IN THIS

4199
02:37:48,480 --> 02:37:50,400
DISORDER. AND KNOWING THAT YOU

4200
02:37:50,400 --> 02:37:52,000
CAN POTENTIALLY DESIGN AN

4201
02:37:52,000 --> 02:37:52,920
ANTISENSE AND KNOWING THAT YOU

4202
02:37:52,920 --> 02:37:56,080
CAN POTENTIALLY REDUCE THE

4203
02:37:56,080 --> 02:37:58,880
DISEASE BURDEN FOR PATIENTS IS

4204
02:37:58,880 --> 02:38:00,840
OBVIOUSLY A HUGE MOTIVATING

4205
02:38:00,840 --> 02:38:02,440
FACTOR TO UNDERSTAND THE NATURAL

4206
02:38:02,440 --> 02:38:03,680
HISTORY ENOUGH TO PROVE THAT

4207
02:38:03,680 --> 02:38:06,400
THAT ACTUALLY CHANGES THE COURSE

4208
02:38:06,400 --> 02:38:10,000
OF THE DISEASE, AND EACH

4209
02:38:10,000 --> 02:38:12,120
DISORDERS HAS ITS OWN TEMPO AND

4210
02:38:12,120 --> 02:38:13,800
OWN PACE AND SOME DISORDERS THAT

4211
02:38:13,800 --> 02:38:16,000
ARE SEVERE ANDRAPHY ONSET, MIGHT

4212
02:38:16,000 --> 02:38:19,920
BE EASIER TO SHOW IF THERE IS

4213
02:38:19,920 --> 02:38:21,920
IMPROVEMENT BECAUSE YOU CAN IN

4214
02:38:21,920 --> 02:38:22,720
SHORT AMOUNT OF TIME SHOW

4215
02:38:22,720 --> 02:38:25,160
IMPROVEMENT. OTHER DISORDERS

4216
02:38:25,160 --> 02:38:27,520
LIKE HBC THAT FOLLOW LONGER MORE

4217
02:38:27,520 --> 02:38:28,720
PROTRACTED PERIOD OF TIME BEFORE

4218
02:38:28,720 --> 02:38:30,240
YOU HAVE SIGNIFICANT LOSS OF

4219
02:38:30,240 --> 02:38:32,480
MOTOR FUNCTIONS MIGHT REALLY BE

4220
02:38:32,480 --> 02:38:34,600
MORE DIFFICULT ESPECIALLY IF YOU

4221
02:38:34,600 --> 02:38:37,360
HAVE TO FURTHER DESIGN A NATURAL

4222
02:38:37,360 --> 02:38:38,520
HISTORY U DI THAT WOULD OVER

4223
02:38:38,520 --> 02:38:40,480
YEARS OF TIME ALLOW YOU TO

4224
02:38:40,480 --> 02:38:42,680
COLLECT ENOUGH DATA TO SHOW THAT

4225
02:38:42,680 --> 02:38:45,320
THE PACE OF CHANGE. SO WHILE THE

4226
02:38:45,320 --> 02:38:46,680
GOLD STANDARD APPROACH THAT'S

4227
02:38:46,680 --> 02:38:48,240
COMMONLY USED IN PREPARING FOR

4228
02:38:48,240 --> 02:38:48,960
CLINICAL TRIALS AND HAS BEEN

4229
02:38:48,960 --> 02:38:51,320
USED IN PAST DECADES IS BRINGING

4230
02:38:51,320 --> 02:38:53,000
PATIENTS IN A REGULAR BASIS

4231
02:38:53,000 --> 02:38:54,320
EVERY SIX MONTHS TO A YEAR AND

4232
02:38:54,320 --> 02:38:55,480
MEASURING THE OUTCOME YOU WANT

4233
02:38:55,480 --> 02:38:57,680
TO CAPTURE LIKE MOTOR FUNCTION,

4234
02:38:57,680 --> 02:38:59,680
REALLY THAT MIGHT TAKE A DECADE

4235
02:38:59,680 --> 02:39:03,640
TO FULLY UNDERSTAND FOR HABC

4236
02:39:03,640 --> 02:39:04,960
WHICH IS CLEARLY NOT VERY

4237
02:39:04,960 --> 02:39:07,080
ACCEPTABLE WHEN YOU HAVE A

4238
02:39:07,080 --> 02:39:08,200
THERAPEUTIC INTERVENTION TO

4239
02:39:08,200 --> 02:39:11,400
IMPLEMENT MORE QUICKLY. SO WE

4240
02:39:11,400 --> 02:39:12,720
APPROACHED NATURAL HISTORY

4241
02:39:12,720 --> 02:39:14,200
STUDIES IN A DIFFERENT WAY THAN

4242
02:39:14,200 --> 02:39:15,440
GOLD STANDARD AND THOUGHT ABOUT

4243
02:39:15,440 --> 02:39:19,120
CROSS SECTIONAL APPROACHES.  SO

4244
02:39:19,120 --> 02:39:20,760
WE STARTED LOOKING AT USING

4245
02:39:20,760 --> 02:39:21,560
MEDICAL RECORDS AS SOURCE

4246
02:39:21,560 --> 02:39:23,760
DOCUMENTS TO VERIFY EVENTS

4247
02:39:23,760 --> 02:39:25,240
INCLUDING ONSET OF MOTOR

4248
02:39:25,240 --> 02:39:27,520
SYMPTOMS AND DEGREE AND SEVERITY

4249
02:39:27,520 --> 02:39:28,960
OF MOTOR SYMPTOMS.  WE ALSO

4250
02:39:28,960 --> 02:39:30,160
STARTED THINKING ABOUT

4251
02:39:30,160 --> 02:39:31,520
COLLECTING FUNCTIONAL MEASURES

4252
02:39:31,520 --> 02:39:32,400
ACROSS MANY INDIVIDUALS TO

4253
02:39:32,400 --> 02:39:35,120
CREATE A BETTER LANDSCAPE OF THE

4254
02:39:35,120 --> 02:39:37,320
DISEASE TRAJECTORY IF NOT IN ONE

4255
02:39:37,320 --> 02:39:38,520
SAME PATIENT. WE HAVE BEEN

4256
02:39:38,520 --> 02:39:40,400
FOCUSING ON COLLECTING PATIENT

4257
02:39:40,400 --> 02:39:41,640
CAREGIVER REPORTED OUTCOMES AND

4258
02:39:41,640 --> 02:39:44,520
IN THE FUTURE WE HOPE TO ADDRESS

4259
02:39:44,520 --> 02:39:46,200
NOVEL WAYS OF COLLECTING

4260
02:39:46,200 --> 02:39:47,520
FUNCTIONAL MEASURES SUCH AS

4261
02:39:47,520 --> 02:39:49,320
REMOTE ASSESSMENT FOR WEARABLE

4262
02:39:49,320 --> 02:39:51,400
DEVICES. TO REDUCE THE BURDEN ON

4263
02:39:51,400 --> 02:39:53,800
FAMILIES OF HAVING TO TRAVEL TO

4264
02:39:53,800 --> 02:39:57,120
NATURAL HISTORY SITES. SO

4265
02:39:57,120 --> 02:39:58,360
IMPORTANTLY, WHEN WE STARTED

4266
02:39:58,360 --> 02:40:01,200
ASKING FAMILIES WHAT WERE THE

4267
02:40:01,200 --> 02:40:02,280
BIGGEST MOST IMPORTANT TARGET

4268
02:40:02,280 --> 02:40:03,280
SYMPTOMIOUS WILL SEE THAT SOME

4269
02:40:03,280 --> 02:40:04,920
OF THE MOTOR SYMPTOMS ARE THE

4270
02:40:04,920 --> 02:40:07,920
MOST PROFOUNDLY AFFECTED IN OUR

4271
02:40:07,920 --> 02:40:11,120
SUBJECTS WITH HABC. OTHER THINGS

4272
02:40:11,120 --> 02:40:12,120
WERE ALSO IMPORTANT WITHIN

4273
02:40:12,120 --> 02:40:13,760
COMMUNICATION OF DAILY LIVING

4274
02:40:13,760 --> 02:40:15,480
SKILLS BUT MOTOR SKILLS EMERGING

4275
02:40:15,480 --> 02:40:17,800
AS ONE OF THE MOST COMMONLY AND

4276
02:40:17,800 --> 02:40:21,440
FREQUENTLY IDENTIFIED DEFICITS

4277
02:40:21,440 --> 02:40:25,680
IN THIS KISS ORDER. DISORDER.

4278
02:40:25,680 --> 02:40:28,720
UNFORTUNATELY WHEN WE APPLIED TO

4279
02:40:28,720 --> 02:40:30,080
HABC STANDARD MOTOR ASSESSMENTS

4280
02:40:30,080 --> 02:40:31,400
THAT ARE USE MISDEMEANOR THE

4281
02:40:31,400 --> 02:40:32,240
CLINICAL SETTING AND RESEARCH

4282
02:40:32,240 --> 02:40:34,040
SETTING IN A LOT OF PLACES THAT

4283
02:40:34,040 --> 02:40:36,600
WERE DEVELOPED FOR THINGS LIKE

4284
02:40:36,600 --> 02:40:38,400
CEREBRAL PALSY, WE REALIZED THAT

4285
02:40:38,400 --> 02:40:40,640
A LOT OF PATIENTS HAVE A FLOOR

4286
02:40:40,640 --> 02:40:42,400
EFFECT. THIS IS A TEST CALLED

4287
02:40:42,400 --> 02:40:46,160
THE GFM 8, GROSS MOTOR FUNCTION

4288
02:40:46,160 --> 02:40:49,160
TEST 88 BECAUSE THERE'S 88 ITEMS

4289
02:40:49,160 --> 02:40:53,120
TESTED. A IS ONE RELATED TO

4290
02:40:53,120 --> 02:40:54,520
LYING AND DIMENSIONS B IS

4291
02:40:54,520 --> 02:40:56,240
RELATED TO MORE TO TO SITTING

4292
02:40:56,240 --> 02:40:58,120
AND ROLLING AND THEN DIMENSION D

4293
02:40:58,120 --> 02:40:59,840
AND E ARE RELATED TO AMBULATORY

4294
02:40:59,840 --> 02:41:02,080
SKILLS. YOU CAN SEE THAT AS SOON

4295
02:41:02,080 --> 02:41:03,720
AS THINGS GET HARDER AND FLOOR

4296
02:41:03,720 --> 02:41:05,760
MOBILITY, A LOT OF PATIENTS ARE

4297
02:41:05,760 --> 02:41:08,120
HAVING -- YOU SEE PATIENTS

4298
02:41:08,120 --> 02:41:09,360
COALESCE HERE BECAUSE THEY ARE

4299
02:41:09,360 --> 02:41:10,920
NO LOCKER ABLE TO DO TESTS. SO

4300
02:41:10,920 --> 02:41:13,320
-- LONGER ABLE TO DO THE TESTS

4301
02:41:13,320 --> 02:41:14,800
SO IT IS PROBLEMATIC TO USE A

4302
02:41:14,800 --> 02:41:17,240
TOOL THAT CAN MEASURE A FUNCTION

4303
02:41:17,240 --> 02:41:18,720
BECAUSE PATIENT IS BELOW LEVEL

4304
02:41:18,720 --> 02:41:19,720
OF FUNCTION OF THAT TOOL AND

4305
02:41:19,720 --> 02:41:23,640
PREVIOUSLY DEVELOPED MOTOR TOOLS

4306
02:41:23,640 --> 02:41:25,480
DON'T FULLY CAPTURE MOTOR

4307
02:41:25,480 --> 02:41:27,520
FUNCTION. AND YOU CAN'T JUST

4308
02:41:27,520 --> 02:41:29,240
TAKE MOTOR TOOLS DEVELOPED FOR

4309
02:41:29,240 --> 02:41:30,920
BABIES WHO MIGHT NOT HAVE THE

4310
02:41:30,920 --> 02:41:33,280
MOTOR FUNCTION OF AN OLDER CHILD

4311
02:41:33,280 --> 02:41:35,920
AND APPLY THOSE BECAUSE NOSE

4312
02:41:35,920 --> 02:41:37,720
MEASURES ARE BASED ON SIZE AND

4313
02:41:37,720 --> 02:41:39,160
HOW MUCH YOU CAN MANIPULATE THAT

4314
02:41:39,160 --> 02:41:42,080
BABY SO THERE WAS NO GREAT SPACE

4315
02:41:42,080 --> 02:41:43,160
FOR THOSE INDIVIDUAL PATIENTS AT

4316
02:41:43,160 --> 02:41:44,280
THAT LEVEL OF FUNCTION. SO WE

4317
02:41:44,280 --> 02:41:45,520
STARTED RETHINKING THINGS A

4318
02:41:45,520 --> 02:41:48,520
LITTLE BIT. AND ASSUMING WE HAVE

4319
02:41:48,520 --> 02:41:50,200
TO UNDERSTAND WHAT MILESTONES

4320
02:41:50,200 --> 02:41:52,280
PATIENTS WITH THIS DISORDER

4321
02:41:52,280 --> 02:41:53,560
ACHIEVED BEFORE WE CAN THINK

4322
02:41:53,560 --> 02:41:54,720
ABOUT WHICH TOOL WE MIGHT WANT

4323
02:41:54,720 --> 02:41:59,320
TO USE, AND WE SAW AS WE LOOKED

4324
02:41:59,320 --> 02:42:00,880
AT THINGS, IF YOU LOOK AT SORT

4325
02:42:00,880 --> 02:42:02,840
OF PATIENTS NOT ACHIEVING A

4326
02:42:02,840 --> 02:42:03,920
MILESTONE, ACHIEVING A MILESTONE

4327
02:42:03,920 --> 02:42:05,800
AND THEN ACHIEVING BUT LOSING

4328
02:42:05,800 --> 02:42:07,720
THE MILESTONE WE SAW AS WE WERE

4329
02:42:07,720 --> 02:42:10,520
EXPECTING BASED ON THE OUTCOME

4330
02:42:10,520 --> 02:42:11,920
OF THE THAT MANY OF OUR PATIENTS

4331
02:42:11,920 --> 02:42:16,120
ARE EITHER NOT ACHIEVING MORE

4332
02:42:16,120 --> 02:42:17,840
COMPLEX MOTOR SKILLS LIKE

4333
02:42:17,840 --> 02:42:20,600
WALKING WELL OR LOSING IT SUCH

4334
02:42:20,600 --> 02:42:22,960
THAT BY AGE OF TRYING TO MEASURE

4335
02:42:22,960 --> 02:42:25,160
CHILDREN AND CAPTURE THEM IN THE

4336
02:42:25,160 --> 02:42:26,640
THREE TO FOUR YEARS WHERE PEOPLE

4337
02:42:26,640 --> 02:42:28,520
ARE STARTING TO DEVELOP SYMPTOMS

4338
02:42:28,520 --> 02:42:30,720
WE WEREN'T GOING TO BE ABLE O

4339
02:42:30,720 --> 02:42:33,560
MEASURE A TEST FUNDAMENTALLY

4340
02:42:33,560 --> 02:42:38,320
BASED ON SIGNIFICANT GOOD MOTOR

4341
02:42:38,320 --> 02:42:41,320
FUNCTION. WE ALSO STARTED

4342
02:42:41,320 --> 02:42:42,000
THINKING WITHIN GROUP OF

4343
02:42:42,000 --> 02:42:43,120
PATIENTS BECAUSE WE DID SEE ON

4344
02:42:43,120 --> 02:42:45,880
THOSE EARLY TESTS THERE WERE

4345
02:42:45,880 --> 02:42:47,520
SOME WERE ABLE FUNCTION BUT ALSO

4346
02:42:47,520 --> 02:42:48,720
THINK ABOUT DIFFERENT COHORT OF

4347
02:42:48,720 --> 02:42:49,920
THE DISEASE. RECALL WHEN WE

4348
02:42:49,920 --> 02:42:51,240
FIRST IDE IF ID THE MUTATION WE

4349
02:42:51,240 --> 02:42:55,360
HAD IDENTIFIED ONE COMMON

4350
02:42:55,360 --> 02:43:00,200
MUTATION, WHICH SUBSTITUTES 249N

4351
02:43:00,200 --> 02:43:02,560
D 249D AND WE KNOW THOSE

4352
02:43:02,560 --> 02:43:04,920
PATIENTS ARE A COMMON RECRUITING

4353
02:43:04,920 --> 02:43:06,280
MUTATION BUT THERE'S OTHER

4354
02:43:06,280 --> 02:43:08,040
MUTATIONS. AND SOME PATIENTS

4355
02:43:08,040 --> 02:43:10,280
MUTATIONS DO VERY WELL AND SOME

4356
02:43:10,280 --> 02:43:11,560
PATIENTS WITH MUTATIONS HAVE

4357
02:43:11,560 --> 02:43:13,680
SIGNIFICANT MOTOR DYSFUNCTION

4358
02:43:13,680 --> 02:43:14,280
AND WE REMEMBER ABLE TO

4359
02:43:14,280 --> 02:43:16,280
DEMONSTRATE THAT -- WE WERE ABLE

4360
02:43:16,280 --> 02:43:18,240
TO DEMONSTRATE MORE THAN ONE

4361
02:43:18,240 --> 02:43:19,040
GROUP WITHIN THIS POPULATION

4362
02:43:19,040 --> 02:43:21,360
THAT PATIENTS WITH THE MUTATIONS

4363
02:43:21,360 --> 02:43:24,600
ARE LIKELY TO INITIALLY SEEM TO

4364
02:43:24,600 --> 02:43:26,520
DO WELL AND BE SIMILAR TO

4365
02:43:26,520 --> 02:43:27,520
PATIENTS WITHOUT THAT MUTATION

4366
02:43:27,520 --> 02:43:29,720
BUT WHO HAVE A LATER

4367
02:43:29,720 --> 02:43:30,840
PRESENTATION OVER 12 MONTHS AND

4368
02:43:30,840 --> 02:43:32,320
CONVERSELY A GROUP OF PATIENTS

4369
02:43:32,320 --> 02:43:34,200
PRESENTED EARLY LESS THAN 12

4370
02:43:34,200 --> 02:43:36,000
MONTHS WITH THAT MUTATION WHO

4371
02:43:36,000 --> 02:43:39,240
VERY OFTEN FAILED TO ACHIEVE

4372
02:43:39,240 --> 02:43:41,120
MEANINGFUL MILESTONES. SO THIS

4373
02:43:41,120 --> 02:43:43,120
IS ANOTHER WAY TO REPRESENT THAT

4374
02:43:43,120 --> 02:43:44,960
SAME INFORMATION, IF YOU TAKE

4375
02:43:44,960 --> 02:43:48,360
ALL THE DIFFERENT GENOTYPES YOU

4376
02:43:48,360 --> 02:43:49,960
SEE THE WARM COLORS ARE WHEN

4377
02:43:49,960 --> 02:43:53,120
MORE THAN 90% PATIENTS START --

4378
02:43:53,120 --> 02:43:54,920
75 OR 90% PATIENTS ACHIEVE THOSE

4379
02:43:54,920 --> 02:43:55,960
MILESTONES AND YOU CAN SEE THAT

4380
02:43:55,960 --> 02:43:59,120
AS THE MILESTONES GET MORE

4381
02:43:59,120 --> 02:44:02,200
DIFFICULT, GOING UP SIX STEPS,

4382
02:44:02,200 --> 02:44:03,120
THERE'S SMALLERS PERCENTAGE OF

4383
02:44:03,120 --> 02:44:05,520
PATIENTS WHO ACHIEVE THAT

4384
02:44:05,520 --> 02:44:06,360
MILESTONE BUT THERE IS IF YOU

4385
02:44:06,360 --> 02:44:12,400
ARE ABLE TO BREAK DOWN THE

4386
02:44:12,400 --> 02:44:14,080
GROUPS, PATIENTS WITH EARLY

4387
02:44:14,080 --> 02:44:16,240
ONSET WERE NOT CONSISTENTLY

4388
02:44:16,240 --> 02:44:18,280
ACHIEVING SKILLS LIKE ROLLING

4389
02:44:18,280 --> 02:44:20,960
OVER VERSUS THOSE WHO PRESENTED

4390
02:44:20,960 --> 02:44:26,600
LATER AND DID BETTER WITH MORE

4391
02:44:26,600 --> 02:44:28,520
CONSISTENT GAINING OF

4392
02:44:28,520 --> 02:44:33,920
COMPLICATED MILESTONES. WE KNOW

4393
02:44:33,920 --> 02:44:35,280
IN THOSE PATIENTS WHO ARE

4394
02:44:35,280 --> 02:44:36,320
MILDER, YOU HAVE PERCENTAGE OF

4395
02:44:36,320 --> 02:44:39,320
MILESTONES ACHIEVED BY

4396
02:44:39,320 --> 02:44:40,360
INDIVIDUAL, YOU SEE PATIENTS

4397
02:44:40,360 --> 02:44:42,080
MORE LIKELY TO ACHIEVE

4398
02:44:42,080 --> 02:44:43,920
MILESTONES, WITHIN THE NON---

4399
02:44:43,920 --> 02:44:45,440
PATIENT WITHOUT THAT COMMON YOU

4400
02:44:45,440 --> 02:44:46,600
ARE ALL OVER PLACE BUT IF YOU

4401
02:44:46,600 --> 02:44:50,680
LOOK AT THOSE MILDER PATIENTS,

4402
02:44:50,680 --> 02:44:52,720
UP HERE, I HOPE YOU CAN SEE MY

4403
02:44:52,720 --> 02:44:54,800
CURSOR LATER LOOK AT PRESENTED

4404
02:44:54,800 --> 02:44:57,600
MILESTONES LOST, THE D 24N

4405
02:44:57,600 --> 02:44:59,520
PATIENTS SIGNIFICANTLY LIKELY TO

4406
02:44:59,520 --> 02:45:01,120
LOSE THOSE MILESTONES. SO

4407
02:45:01,120 --> 02:45:02,440
OVERALL THAT GIVES A SENSE THEY

4408
02:45:02,440 --> 02:45:04,960
WERE THREE MAIN PHENOTYPES MILD

4409
02:45:04,960 --> 02:45:06,680
MODERATE AND SEVERE, A GROUP

4410
02:45:06,680 --> 02:45:08,720
THAT WE ARE NEVER GOING TO GAIN

4411
02:45:08,720 --> 02:45:09,920
SIGNIFICANT MILESTONES, SORT OF

4412
02:45:09,920 --> 02:45:10,920
STAYED DOWN HERE, A GROUP THAT

4413
02:45:10,920 --> 02:45:12,880
WE ARE GOING TO GAIN MILESTONES,

4414
02:45:12,880 --> 02:45:14,920
BUT THEN THAT WE WILL LOSE IN

4415
02:45:14,920 --> 02:45:17,000
WHICH THE PATIENTS WERE MORE

4416
02:45:17,000 --> 02:45:19,320
STRONGLY REPRESENTED AND THEN A

4417
02:45:19,320 --> 02:45:21,000
THIRD GROUP WHERE SYMPTOMS WERE

4418
02:45:21,000 --> 02:45:25,240
MILDER OVERALL. SO AS WE STARTED

4419
02:45:25,240 --> 02:45:27,480
TO THINK ABOUT OTHERS TYPES OF

4420
02:45:27,480 --> 02:45:28,480
MEASURES WE CAN USE THAT MIGHT

4421
02:45:28,480 --> 02:45:30,480
BE SIMPLER AND MORE EASILY ALLOW

4422
02:45:30,480 --> 02:45:32,880
US TO STRATIFY PATIENTS AND

4423
02:45:32,880 --> 02:45:35,480
FOLLOW OTHER OUTCOMES WE

4424
02:45:35,480 --> 02:45:38,040
BORROWED FROM ANOTHER

4425
02:45:38,040 --> 02:45:38,520
LEUKODISAVOW PHI MEDICAL

4426
02:45:38,520 --> 02:45:41,760
DYSTROPHY THAT USES AT ITS CORE

4427
02:45:41,760 --> 02:45:46,440
OUTCOME MEASURE, WE BORROWED A 6

4428
02:45:46,440 --> 02:45:49,400
POINT MOTOR OUTCOME THAT

4429
02:45:49,400 --> 02:45:51,880
INCLUDES ZERO WALKING WITH

4430
02:45:51,880 --> 02:45:54,320
NORMAL FOR AGE, ONE CHILD

4431
02:45:54,320 --> 02:45:55,720
AMBULATORY BUT DECREASE QUALITY

4432
02:45:55,720 --> 02:45:57,800
PERFORMANCE FOR AGE, TWO, CHILD

4433
02:45:57,800 --> 02:45:59,240
WHO NEEDS ASSISTIVE DEVICES

4434
02:45:59,240 --> 02:46:01,200
BECAUSE THEY CAN'T WALK MORE

4435
02:46:01,200 --> 02:46:03,400
THAN FIVE STEPS UNASSISTED, AND

4436
02:46:03,400 --> 02:46:05,440
THEN THREE AND FOUR PATIENTS WHO

4437
02:46:05,440 --> 02:46:07,520
MIGHT HAVE MOBILITY THROUGH

4438
02:46:07,520 --> 02:46:10,520
CRAWLING OR ROLLING AND/OR MIGHT

4439
02:46:10,520 --> 02:46:12,880
BE ABLE TO -- AND FIVE PATIENT

4440
02:46:12,880 --> 02:46:14,400
WHO ONLY RETAINS HEAD CONTROL

4441
02:46:14,400 --> 02:46:15,800
AND SIX PATIENT WHO LOST ALL

4442
02:46:15,800 --> 02:46:19,040
MOBILITY INCLUDING HEAD CONTROL.

4443
02:46:19,040 --> 02:46:20,960
SOFT YOU CAN SEE THAT WITHIN THE

4444
02:46:20,960 --> 02:46:23,200
PATIENTS EVEN WHO ARE THE

4445
02:46:23,200 --> 02:46:25,000
MILDEST, WHO START WITH A NEAR

4446
02:46:25,000 --> 02:46:28,120
NORMAL OR NORMAL MOTOR FUNCTION,

4447
02:46:28,120 --> 02:46:28,760
THERE'S OFTEN PROGRESSION OVER

4448
02:46:28,760 --> 02:46:30,920
TIME SO THERE IS A MEASURABLE

4449
02:46:30,920 --> 02:46:32,400
AMOUNT OF CHANGE, WITHIN

4450
02:46:32,400 --> 02:46:35,120
PATIENTS WHO INITIALLY START IN

4451
02:46:35,120 --> 02:46:36,320
AMBULATORY STAGE, THAT IS ALSO

4452
02:46:36,320 --> 02:46:41,120
TRUE FOR PATIENTS WHO START

4453
02:46:41,120 --> 02:46:42,640
MEETING, WALKING WITH SUPPORTED

4454
02:46:42,640 --> 02:46:44,680
WALKING. THEN WILL IS A GROUP OF

4455
02:46:44,680 --> 02:46:47,000
PATIENTS WHO EVEN IF THEY HAD

4456
02:46:47,000 --> 02:46:49,120
MORE SEVERE INVOLVEMENT LIKE

4457
02:46:49,120 --> 02:46:50,720
ONLY BEING ABLE TO SIT OR

4458
02:46:50,720 --> 02:46:52,280
CONTROL CAN BE SEEN TO PROGRESS

4459
02:46:52,280 --> 02:46:54,280
OVER TIME. SO WE START TO GET A

4460
02:46:54,280 --> 02:46:55,640
SENSE THERE MIGHT BE SIMPLER

4461
02:46:55,640 --> 02:46:57,400
WAYS TO ACTUALLY CAPTURE MOTOR

4462
02:46:57,400 --> 02:47:03,880
CHANGE. SO AS I EXPLAINED, WE

4463
02:47:03,880 --> 02:47:05,920
HAVE THREE DIFFERENT GROUPS THAT

4464
02:47:05,920 --> 02:47:08,920
ARE RELEVANT TO THIS DISEASE AND

4465
02:47:08,920 --> 02:47:11,160
LIKELY THAT THESE WILL NEED BOTH

4466
02:47:11,160 --> 02:47:14,320
NON-STANDARD MEASURES BECAUSE

4467
02:47:14,320 --> 02:47:16,520
THEY DEVELOP OTHER DISRDERS

4468
02:47:16,520 --> 02:47:17,920
LIKELY TO HAVE A FLOOR AFFECT

4469
02:47:17,920 --> 02:47:20,280
AND LIKELY TAYLOR OUTCOMES TO

4470
02:47:20,280 --> 02:47:22,000
SPECIFIC DISEASE GROUPS WITHIN

4471
02:47:22,000 --> 02:47:24,120
THIS RARE DISEASE. SO STUDY

4472
02:47:24,120 --> 02:47:25,480
POPULATIONS WILL NEED TO TAKE

4473
02:47:25,480 --> 02:47:26,760
CAREFUL INTO CONSIDERATION WHICH

4474
02:47:26,760 --> 02:47:28,800
GROUP HE IS PATIENTS PARTICIPATE

4475
02:47:28,800 --> 02:47:31,360
AND WILL LIKELY NEED TO DESIGN

4476
02:47:31,360 --> 02:47:32,840
TRIALS THAT INCLUDE EARLIER

4477
02:47:32,840 --> 02:47:34,160
MOTOR OUTCOMES TO TAKE INTO

4478
02:47:34,160 --> 02:47:36,840
ACCOUNT THE LONG LAG TIMES

4479
02:47:36,840 --> 02:47:37,520
DURING WHICH DISEASE CAN

4480
02:47:37,520 --> 02:47:42,160
DEVELOP. I HOPE THAT ILLUSTRATES

4481
02:47:42,160 --> 02:47:43,960
THE CHALLENGES AND ALTERNATIVE

4482
02:47:43,960 --> 02:47:46,920
APPROACHES TO DEFINING MOTOR

4483
02:47:46,920 --> 02:47:48,120
OUTCOMES FOR VERY RARE DISEASE

4484
02:47:48,120 --> 02:47:50,240
POPULATIONS AND HOPEFULLY THESE

4485
02:47:50,240 --> 02:47:52,040
TYPES OF OF APPROACH WILL BE

4486
02:47:52,040 --> 02:47:53,160
ABLE TO BE IMPLEMENTED IN

4487
02:47:53,160 --> 02:47:55,720
CLINICAL TRIALS AND BECOME MORE

4488
02:47:55,720 --> 02:47:58,320
GENERALIZED TO ALLOW ACCESS TO

4489
02:47:58,320 --> 02:47:59,640
CLINICAL TRIAL DESIGN FOR RARE

4490
02:47:59,640 --> 02:48:04,800
DISEASE. THANK YOU VERY MUCH.  

4491
02:48:04,800 --> 02:48:07,760
>> THANKS FOR THE WONDERFUL

4492
02:48:07,760 --> 02:48:09,080
PRESENTATIONS.  NOW WE'LL HAVE

4493
02:48:09,080 --> 02:48:10,320
OPEN DISCUSSION WITH QUESTIONS

4494
02:48:10,320 --> 02:48:11,800
FROM THE AUDIENCE. FIRST FOR YOU

4495
02:48:11,800 --> 02:48:14,000
SCOTT, THERE IS A LOT OF

4496
02:48:14,000 --> 02:48:17,360
INTEREST HOW ADDITIONAL DISEASES

4497
02:48:17,360 --> 02:48:20,840
MIGHT BE GET INTO THE ASO

4498
02:48:20,840 --> 02:48:21,840
CLINICAL TRIAL APPROACH. IF YOU

4499
02:48:21,840 --> 02:48:25,280
CAN PERHAPS EXPLAIN FIRST ABOUT

4500
02:48:25,280 --> 02:48:27,080
THE PARTICULAR KINDS OF DISEASES

4501
02:48:27,080 --> 02:48:29,720
AND THE PARTICULAR KINDS OF

4502
02:48:29,720 --> 02:48:31,880
MUTATIONS AMINE AMENABLE TO THIS

4503
02:48:31,880 --> 02:48:33,720
APPROACH AND PERHAPS YOU AND

4504
02:48:33,720 --> 02:48:35,440
ADELINE CAN TALK ABOUT THINKING

4505
02:48:35,440 --> 02:48:37,120
ABOUT THE FUTURE HOW TO GET MORE

4506
02:48:37,120 --> 02:48:38,120
PATIENTS INVOLVED IN THESE

4507
02:48:38,120 --> 02:48:40,880
CLINICAL TRIAL APPROACHES.

4508
02:48:40,880 --> 02:48:44,880
>> THANKS PJ. THAT IS A GREAT

4509
02:48:44,880 --> 02:48:47,000
QUESTION. SO STARTING A LITTLE

4510
02:48:47,000 --> 02:48:51,320
BIT WITH THE MECHANISMS THAT ARE

4511
02:48:51,320 --> 02:48:55,480
APPLICABLE AND HEN WE CAN TOUCH

4512
02:48:55,480 --> 02:48:57,520
ON STRUCTURAL SOCIETAL ISSUES

4513
02:48:57,520 --> 02:48:59,200
HOW TO GET ACCESS FOR MORE

4514
02:48:59,200 --> 02:49:06,080
PATIENTS.  ASOs HAVE BEEN USED

4515
02:49:06,080 --> 02:49:07,560
FOR TWO PURPOSES OR TWO

4516
02:49:07,560 --> 02:49:12,840
MECHANISMS THUS FAR. I WILL SAY

4517
02:49:12,840 --> 02:49:15,600
NOVEL WAYS ARE BEING EXPLORED BY

4518
02:49:15,600 --> 02:49:20,320
LOTS OF GROUPS. THE FIRST IS TO

4519
02:49:20,320 --> 02:49:22,320
CHANGE SLICING. THAT MEANS WE

4520
02:49:22,320 --> 02:49:24,080
ARE IN SOME FORM OR FASHION

4521
02:49:24,080 --> 02:49:27,240
TRYING TO CHANGE THE PROCESSING

4522
02:49:27,240 --> 02:49:30,560
AT RNA STAGE. SO BART MENTIONED

4523
02:49:30,560 --> 02:49:32,240
DNA RNA PROTEIN AS BASIC TENANT

4524
02:49:32,240 --> 02:49:36,800
WE ARE DEALING WITH HERE. MORE

4525
02:49:36,800 --> 02:49:39,200
INFORMATION GETS TRANSITIONED

4526
02:49:39,200 --> 02:49:40,800
FROM DNA TO RNA THAN IS NEEDED

4527
02:49:40,800 --> 02:49:44,120
TO MAKE THE PROTEIN THERE IS A

4528
02:49:44,120 --> 02:49:45,680
PROCESS TO SPLICE OUT OR PULL

4529
02:49:45,680 --> 02:49:47,360
OUT SOME OF THAT INFORMATION AND

4530
02:49:47,360 --> 02:49:48,800
LEFT WITH THE MOST IMPORTANT

4531
02:49:48,800 --> 02:49:53,800
PART. THAT PART PROCESS CAN GO

4532
02:49:53,800 --> 02:49:55,560
AWRY SO ASOs HAVE BEEN USED TO

4533
02:49:55,560 --> 02:49:59,240
TRY TO CORRECT THAT AND GET THE

4534
02:49:59,240 --> 02:50:02,360
RIGHT SPLICING OR SKIP OVER AN

4535
02:50:02,360 --> 02:50:03,880
ERRONEOUS PART THROUGH SPLICING

4536
02:50:03,880 --> 02:50:07,040
PROCESSES. THE OTHER WAY ASOs

4537
02:50:07,040 --> 02:50:09,240
HAVE BEEN UTILIZED IS THROUGH

4538
02:50:09,240 --> 02:50:11,000
SOMETHING CALLED KNOCK DOWN.

4539
02:50:11,000 --> 02:50:14,360
BASICALLY IS A PROCESS WHICH YOU

4540
02:50:14,360 --> 02:50:17,440
CAN TAKE A GENE AT THE RNA STAGE

4541
02:50:17,440 --> 02:50:21,080
AND TELL THE CELL DON'T EXPRESS

4542
02:50:21,080 --> 02:50:23,040
THIS, DON'T TURN IT INTO

4543
02:50:23,040 --> 02:50:24,600
PROTEIN, BREAK DOWN THAT RNA AND

4544
02:50:24,600 --> 02:50:29,440
DON'T UTILIZE IT.  THOSE ARE TWO

4545
02:50:29,440 --> 02:50:30,960
PRIMARY MECHANISMS UTILIZED THUS

4546
02:50:30,960 --> 02:50:32,640
FAR BUT THERE IS WORK BEING DONE

4547
02:50:32,640 --> 02:50:34,040
TO TRY TO COME UP WITH OTHER WAY

4548
02:50:34,040 --> 02:50:36,160
OF USING ASOs. IT IS A REAL

4549
02:50:36,160 --> 02:50:37,840
ISSUE HOW YOU GET MORE GROUPS

4550
02:50:37,840 --> 02:50:39,200
INTO THIS. THERE'S ONLY SO MANY

4551
02:50:39,200 --> 02:50:41,040
PEOPLE STUDYING THIS AND THERE'S

4552
02:50:41,040 --> 02:50:42,520
ONLY SO MUCH TIME IN THE DAY. I

4553
02:50:42,520 --> 02:50:44,000
THINK WE WANT TO BE CAREFUL

4554
02:50:44,000 --> 02:50:46,960
ABOUT HOW DO WE AGAIN PRIORITIZE

4555
02:50:46,960 --> 02:50:50,960
FOR SUCCESS. OUR N OF 1

4556
02:50:50,960 --> 02:50:52,280
COLLABORATIVE IS NOT A

4557
02:50:52,280 --> 02:50:53,720
REGULATORY BODY, WE ARE NOT

4558
02:50:53,720 --> 02:50:54,840
TELLING PEOPLE THEY CAN OR

4559
02:50:54,840 --> 02:50:56,520
CANNOT DO SOMETHING. JUST TRYING

4560
02:50:56,520 --> 02:50:58,000
TO HELP SUPPORT SUCCESSFUL

4561
02:50:58,000 --> 02:51:01,200
INITIATIVES AS MUCH AS WE CAN BY

4562
02:51:01,200 --> 02:51:02,720
SHOWING PEOPLE WHAT WORK, WHAT

4563
02:51:02,720 --> 02:51:04,280
HASN'T WORKED.  THERE IS AN

4564
02:51:04,280 --> 02:51:05,440
INTERESTING QUESTION COULD WE BE

4565
02:51:05,440 --> 02:51:10,400
A LINKER BETWEEN PATIENTS OR

4566
02:51:10,400 --> 02:51:12,920
FAMILY ORGANIZATIONS OR GROUPS

4567
02:51:12,920 --> 02:51:13,560
DOING CERTAIN RESEARCH THAT IS

4568
02:51:13,560 --> 02:51:14,800
SOMETHING TO EXPLORE AS WE GO

4569
02:51:14,800 --> 02:51:17,360
FORWARD AS WELL.  

4570
02:51:17,360 --> 02:51:21,280
>> ADELINE, WOULD YOU LIKE TO

4571
02:51:21,280 --> 02:51:22,040
COMMENT?

4572
02:51:22,040 --> 02:51:23,000
>> YES, I WOULD THIS IS A

4573
02:51:23,000 --> 02:51:24,600
PROBLEM, THIS NEED FOR SCALE AN

4574
02:51:24,600 --> 02:51:26,640
SCOPE IS A PROBLEM ACROSS A LOT

4575
02:51:26,640 --> 02:51:28,720
OF THERAPEUTIC ADVANCES IN

4576
02:51:28,720 --> 02:51:31,320
MOLECULAR MEDICINE, ASO OR GENE

4577
02:51:31,320 --> 02:51:33,440
THERAPY. THERE'S MORE RARE

4578
02:51:33,440 --> 02:51:34,440
DISEASE THAN THERE ARE

4579
02:51:34,440 --> 02:51:35,840
CLINICIANS AND SIGNTISES,

4580
02:51:35,840 --> 02:51:37,040
STUDYING THOSE RARE DISEASE AND

4581
02:51:37,040 --> 02:51:38,560
ABLE TO IMPLEMENT THOSE THINGS.

4582
02:51:38,560 --> 02:51:44,360
SO I THINK FOR THOSE THAT ARE

4583
02:51:44,360 --> 02:51:45,600
ADVOCACY GROUPS TO SUPPORT AND

4584
02:51:45,600 --> 02:51:47,360
PARTNER CAREER DEVELOPMENT OF

4585
02:51:47,360 --> 02:51:50,240
KEY INVESTIGATORS WHO MIGHT BE

4586
02:51:50,240 --> 02:51:51,840
JUNIOR AND WILLING TAKE ON RARE

4587
02:51:51,840 --> 02:51:54,480
DISEASE AND PARTNER WITH YOU TO

4588
02:51:54,480 --> 02:51:55,520
DEVELOP NOVEL UNDERSTANDING OF

4589
02:51:55,520 --> 02:51:57,200
THE DISEASE AND POTENTIALLY

4590
02:51:57,200 --> 02:51:58,960
FUTURE NOVEL THERAPIES, IT

4591
02:51:58,960 --> 02:52:00,320
WASN'T MY EXPECTATION AND MY

4592
02:52:00,320 --> 02:52:01,440
CAREER THAT I WOULD BE AT A

4593
02:52:01,440 --> 02:52:03,080
POINT WHERE IT IS NOT THE

4594
02:52:03,080 --> 02:52:04,200
FEASIBILITY AND POSSIBILITY OF

4595
02:52:04,200 --> 02:52:05,880
RARE DISEASE TREATMENT BUT IT IS

4596
02:52:05,880 --> 02:52:08,240
THE EXECUTABILITY OF THAT. LIKE

4597
02:52:08,240 --> 02:52:09,840
HOW DO YOU GET WORK DONE AND HOW

4598
02:52:09,840 --> 02:52:12,640
DO YOU FIND PEOPLE TO DO THAT

4599
02:52:12,640 --> 02:52:13,840
WORK. THERE IS INCREASING

4600
02:52:13,840 --> 02:52:15,560
PATTERNS AN PATHWAYS FOR THAT TO

4601
02:52:15,560 --> 02:52:17,000
HAPPEN BUT YOU STILL NEED THE

4602
02:52:17,000 --> 02:52:18,840
BOOTS ON THE GROUND TO GET IT

4603
02:52:18,840 --> 02:52:20,440
DONE. AS A LAST POINT THE

4604
02:52:20,440 --> 02:52:23,000
ADVOCACY PARTNERS CAN IMPROVE

4605
02:52:23,000 --> 02:52:25,240
THAT PROCESS, BY PARTNERING WITH

4606
02:52:25,240 --> 02:52:26,080
PEOPLE TO COLLECT NATURAL

4607
02:52:26,080 --> 02:52:27,240
HISTORY DATA AND THERE IS

4608
02:52:27,240 --> 02:52:29,920
INCREASING MODELS FOR THAT TO

4609
02:52:29,920 --> 02:52:31,720
HAPPEN AND WE COLLABORATE WITH

4610
02:52:31,720 --> 02:52:33,280
50 ADVOCACY GROUPS. SO I REALLY

4611
02:52:33,280 --> 02:52:35,840
THINK A LOT OF PARTNERSHIP AND

4612
02:52:35,840 --> 02:52:39,080
GROWTH BETWEEN ADVOCACY PARTNERS

4613
02:52:39,080 --> 02:52:41,040
AND SCIENTISTS AND CLINICIANS IS

4614
02:52:41,040 --> 02:52:42,160
IMPORTANT THE CARRYING THE

4615
02:52:42,160 --> 02:52:43,200
DREAMS TO FRUITION.  

4616
02:52:43,200 --> 02:52:46,800
>> THAT IS A GREAT POINT.

4617
02:52:46,800 --> 02:52:48,480
INCREASINGLY NOW FOR SOME OF

4618
02:52:48,480 --> 02:52:50,160
THESE DISEASES, THE LIMITING

4619
02:52:50,160 --> 02:52:52,600
FACTOR IS NOT SO MUCH THE

4620
02:52:52,600 --> 02:52:53,640
SCIENTIFIC KNOWLEDGE DEVELOP

4621
02:52:53,640 --> 02:52:59,440
THERAPY IS THE PRACTICALITY OF

4622
02:52:59,440 --> 02:53:00,320
GETTING CLINICAL TRIALS STARTED.

4623
02:53:00,320 --> 02:53:02,440
QUESTION FOR MEHMET. YOUR

4624
02:53:02,440 --> 02:53:04,560
DAUGHTER HAS A SPLICING

4625
02:53:04,560 --> 02:53:10,040
MUTATION, IN THE A-T GENE. I

4626
02:53:10,040 --> 02:53:11,600
THINK YOU SAID YOU LEARNED ABOUT

4627
02:53:11,600 --> 02:53:12,840
THIS BECAUSE SOMEONE SENT A

4628
02:53:12,840 --> 02:53:15,360
PAPER SHOWING THEY COULD CORRECT

4629
02:53:15,360 --> 02:53:17,600
THIS WITH AN ASO. TRYING TO ASK

4630
02:53:17,600 --> 02:53:20,280
YOU TO STEP STEP BACK AND PUT

4631
02:53:20,280 --> 02:53:21,480
YOURSELF MANY THE POSITION OF

4632
02:53:21,480 --> 02:53:22,920
PARENTS WHO MIGHT BE WATCHING

4633
02:53:22,920 --> 02:53:25,920
THIS. TO WHAT EXTENT DID YOU

4634
02:53:25,920 --> 02:53:26,960
EVEN UNDERSTAND WHAT A SPLICING

4635
02:53:26,960 --> 02:53:30,920
MUTATION IS. AND HOW WOULD YOU

4636
02:53:30,920 --> 02:53:32,360
FIND OUT MORE ABOUT THAT, WAS

4637
02:53:32,360 --> 02:53:33,640
THAT SOMETHING YOU DISCUSSED

4638
02:53:33,640 --> 02:53:37,400
WITH YOUR DOCTOR? 

4639
02:53:37,400 --> 02:53:43,480
>> YEAH. I DIDN'T -- I HAD SOME

4640
02:53:43,480 --> 02:53:55,800
BACKGROUND ON THIS TOPICS I GOT

4641
02:53:55,800 --> 02:53:56,800
BIOINFORMATICS SOURCES BEFORE SO

4642
02:53:56,800 --> 02:53:58,240
I HAD SOME UNDERSTANDING OF

4643
02:53:58,240 --> 02:54:08,040
THOSE THINGS ARE. SO I CAN SAY

4644
02:54:08,040 --> 02:54:16,640
IT IS LIKE -- IT IS NOT EASY TO

4645
02:54:16,640 --> 02:54:30,720
SUCH DERIVATIONS, MAY NEED TO

4646
02:54:30,720 --> 02:54:33,400
HAVE BACKGROUND INFORMATION. BUT

4647
02:54:33,400 --> 02:54:37,800
I THINK N OF 1 COLLABORATIVE,

4648
02:54:37,800 --> 02:54:39,560
PEOPLE THERE ARE MANY PEOPLE WHO

4649
02:54:39,560 --> 02:54:45,720
ARE EXPERTS ON THESE TOPICS.  I

4650
02:54:45,720 --> 02:54:52,000
AM PRETTY SURE THAT PEOPLE WILL

4651
02:54:52,000 --> 02:54:56,400
BE -- WILL DIRECT TO THE RIGHT

4652
02:54:56,400 --> 02:55:00,840
PLACE. IN MY EXPERIENCE STARTED

4653
02:55:00,840 --> 02:55:03,520
THIS, PEOPLE FROM ALL OVER THE

4654
02:55:03,520 --> 02:55:05,000
PLACE UNDERSTANDING THEIR -- ARE

4655
02:55:05,000 --> 02:55:06,560
SENNING GENETIC REPORTS TO ME.

4656
02:55:06,560 --> 02:55:08,040
THEY ARE LIKE IS THIS AMENABLE

4657
02:55:08,040 --> 02:55:08,240
TO --

4658
02:55:08,240 --> 02:55:10,200
>> YEAH, THAT'S KIND OF WHAT I

4659
02:55:10,200 --> 02:55:11,680
WANTED TO GET AT. I'M NOT SURE

4660
02:55:11,680 --> 02:55:15,360
THAT'S THE BEST WAY FOR THIS TO

4661
02:55:15,360 --> 02:55:16,520
HAPPEN SO I GUESS I'M ASKING --

4662
02:55:16,520 --> 02:55:19,720
GO AHEAD.  

4663
02:55:19,720 --> 02:55:23,440
>> ONE THING TO MENTION ABOUT

4664
02:55:23,440 --> 02:55:25,200
THIS, SO WE ARE -- THIS IS A

4665
02:55:25,200 --> 02:55:28,160
RARE DISEASE AND WE ARE NOT

4666
02:55:28,160 --> 02:55:30,120
EXPECTING TO -- WE DON'T THINK

4667
02:55:30,120 --> 02:55:33,040
THERE ARE OTHER PEOPLE WITH THE

4668
02:55:33,040 --> 02:55:35,240
SAME MUTATION BUT TURNS OUT TO

4669
02:55:35,240 --> 02:55:37,840
BE THERE ARE FIVE OTHER PATIENTS

4670
02:55:37,840 --> 02:55:40,680
WITH THE EXACT SAME MUTATION.  

4671
02:55:40,680 --> 02:55:42,880
SO THE WAY WE FOUND, THEY SENT

4672
02:55:42,880 --> 02:55:47,200
THEIR GENETIC REPORTS OR YOU SEE

4673
02:55:47,200 --> 02:55:49,600
THEY ARE THE SAME. WE NEED LIKE

4674
02:55:49,600 --> 02:55:54,440
DATA SHARING PLATFORM WHERE

4675
02:55:54,440 --> 02:55:58,200
EXPERTS CAN INTERPRET THOSE

4676
02:55:58,200 --> 02:56:01,760
THINGS, MAYBE WITH SOME

4677
02:56:01,760 --> 02:56:03,080
INFORMATION,LIKE -- ALL PATIENTS

4678
02:56:03,080 --> 02:56:04,360
GENETIC REPORT AT END OF THE DAY

4679
02:56:04,360 --> 02:56:08,760
ON THEIR HANDS.  THEY JUST DON'T

4680
02:56:08,760 --> 02:56:09,840
KNOW IF THIS IS AMENABLE TO

4681
02:56:09,840 --> 02:56:17,200
SOMETHING.  

4682
02:56:17,200 --> 02:56:20,880
>> BACK TO SCOTT AND -- TO WHAT

4683
02:56:20,880 --> 02:56:22,200
EXTENT WHEN PATIENT GETS GENETIC

4684
02:56:22,200 --> 02:56:23,600
REPORT AND SEE WHAT THE DISEASE

4685
02:56:23,600 --> 02:56:24,800
IS, BUT ALSO SEE SOME

4686
02:56:24,800 --> 02:56:27,840
INFORMATION WRITTEN DOWN THERE

4687
02:56:27,840 --> 02:56:30,440
THAT YOU WOULD REALIZE MEANS

4688
02:56:30,440 --> 02:56:31,480
SPLICING MUTATION, IT IS A

4689
02:56:31,480 --> 02:56:34,680
DOMINANT MUTATION. MIGHT BE

4690
02:56:34,680 --> 02:56:39,040
AMENABLE TO AN ASO APPROACH. TO

4691
02:56:39,040 --> 02:56:41,640
WHAT EXTENT WHOSE JOB IS IT TO

4692
02:56:41,640 --> 02:56:42,600
EXPLAIN TO PATIENTS WHO GET

4693
02:56:42,600 --> 02:56:45,720
THOSE REPORTS WHAT THE POTENTIAL

4694
02:56:45,720 --> 02:56:47,200
APPLICABILITY AND ACTIONIBILITY

4695
02:56:47,200 --> 02:56:49,760
OF THAT INFORMATION IS.

4696
02:56:49,760 --> 02:56:52,480
>> I CAN TAKE FIRST STAB.

4697
02:56:52,480 --> 02:56:53,680
GENETIC REPORT SHOULD ALWAYS BE

4698
02:56:53,680 --> 02:56:55,800
DELIVERED WITH GENETIC COUNSELOR

4699
02:56:55,800 --> 02:56:57,760
AND CLINICAL EXPERT WITH

4700
02:56:57,760 --> 02:57:03,480
EXPERTISE IN GENETICS SO PEOPLE

4701
02:57:03,480 --> 02:57:06,440
IDEALLY SHOULD NEVER BE HANDED,

4702
02:57:06,440 --> 02:57:07,800
THE FIRST PERSON TO GO BACK TO

4703
02:57:07,800 --> 02:57:09,320
IS THE PERSON WHO GAVE YOU THAT

4704
02:57:09,320 --> 02:57:10,840
REPORT AND ASK THEM IF THEY

4705
02:57:10,840 --> 02:57:13,880
CANNOT HELP YOU EXPLAIN THAT TO

4706
02:57:13,880 --> 02:57:16,760
REFER TO GENETIC PROFESSIONAL

4707
02:57:16,760 --> 02:57:19,160
WHO CAN. THAT IS NUMBER ONE. IT

4708
02:57:19,160 --> 02:57:20,280
IS ALSO IMPORTANT TO UNDERSTAND

4709
02:57:20,280 --> 02:57:21,720
THE GENETIC COUNSELOR OR

4710
02:57:21,720 --> 02:57:23,280
GENETICIST WHO ORDERED THE TEST,

4711
02:57:23,280 --> 02:57:25,040
MAY NOT BE AVAILABLE DATA TO

4712
02:57:25,040 --> 02:57:27,640
KNOW THAT FOR SURE. SO SPLICE

4713
02:57:27,640 --> 02:57:28,800
SITE MUTATIONS ARE DIFFERENT

4714
02:57:28,800 --> 02:57:30,240
BECAUSE THEY ARE MAPPED BETTER

4715
02:57:30,240 --> 02:57:32,160
INTO THE GENOME. EVEN SEW WE

4716
02:57:32,160 --> 02:57:33,840
DON'T ALWAYS KNOW DEFINITIVELY

4717
02:57:33,840 --> 02:57:35,000
IF THERE IS A SPLICING ERROR

4718
02:57:35,000 --> 02:57:37,760
FROM A GENETIC REPORT.  AND WE

4719
02:57:37,760 --> 02:57:40,760
ALSO DON'T KNOW IF THERE IS A

4720
02:57:40,760 --> 02:57:41,720
HETEROZYGOTE WHICH MEANS CHANGE

4721
02:57:41,720 --> 02:57:43,400
OF ONE GENE COPY, THAT DOESN'T

4722
02:57:43,400 --> 02:57:45,040
MEAN THAT THE CAUSE OF THE

4723
02:57:45,040 --> 02:57:49,640
DISEASE IS ACTUALLY GAIN OF

4724
02:57:49,640 --> 02:57:52,120
FUNCTION OR LOSS OF FUNCTION, IT

4725
02:57:52,120 --> 02:57:53,640
DOESN'T TELL YOU TOO MUCH OR TOO

4726
02:57:53,640 --> 02:57:55,440
LITTLE FUNCTIONAL PROTEIN OR

4727
02:57:55,440 --> 02:57:56,400
DYSFUNCTIONAL PROTEIN AS THE

4728
02:57:56,400 --> 02:57:59,960
CASE MAY BE. SO SOMETIMES THE

4729
02:57:59,960 --> 02:58:01,640
RIGHT ANSWER IF YOU UNDERSTAND

4730
02:58:01,640 --> 02:58:03,200
WHAT THERAPEUTIC APPROACH WOULD

4731
02:58:03,200 --> 02:58:05,080
BE POSSIBLE UNLESS LOTS IS KNOWN

4732
02:58:05,080 --> 02:58:07,800
ABOUT DISEASE ALREADY. AND

4733
02:58:07,800 --> 02:58:09,520
THERE'S OTHER SIMILAR GENETIC

4734
02:58:09,520 --> 02:58:11,320
CHANGES IS GO TO CELLS AND

4735
02:58:11,320 --> 02:58:16,560
FIGURE THAT OUT.  THAT BECOMES A

4736
02:58:16,560 --> 02:58:18,440
POTENTIALLY SEVERAL YEAR LONG IN

4737
02:58:18,440 --> 02:58:19,880
THE LAB, AND GET BACK TO THE

4738
02:58:19,880 --> 02:58:21,560
QUESTION EARLIER HOW DO WE SCALE

4739
02:58:21,560 --> 02:58:24,600
AND MAKE IT FEASIBLE. THERE IS

4740
02:58:24,600 --> 02:58:26,320
NOT ALWAYS A GREAT ANSWER

4741
02:58:26,320 --> 02:58:27,480
DEPENDING HOW THE RARE DISEASE

4742
02:58:27,480 --> 02:58:29,360
IS, HOW IT IS DEFINED AND WHAT

4743
02:58:29,360 --> 02:58:33,000
WE KNOW ABOUT IT.  

4744
02:58:33,000 --> 02:58:34,720
>> THANK YOU. SCOTT ANYTHING TO

4745
02:58:34,720 --> 02:58:35,200
ADD TONA?

4746
02:58:35,200 --> 02:58:40,560
>> TOTALLY AGREE.  WE ARE

4747
02:58:40,560 --> 02:58:41,800
RELATIVELY EARLY IN IN ALL THIS,

4748
02:58:41,800 --> 02:58:44,760
THERE IS STILL A RELATIVELY

4749
02:58:44,760 --> 02:58:46,560
SMALL NUMBER OF PATIENTS TREATED

4750
02:58:46,560 --> 02:58:48,240
WITH N OF 1. A LARGER GROUP WITH

4751
02:58:48,240 --> 02:58:54,120
N OF SMALLS OR RARE DISEASE, IN

4752
02:58:54,120 --> 02:58:55,040
SMALL CLINICAL TRIALS. WE ARE

4753
02:58:55,040 --> 02:58:57,440
LEARNING MORE. I KNOW OF GROUPS

4754
02:58:57,440 --> 02:59:01,640
WORKING ON THINGS LIKE PATIENT

4755
02:59:01,640 --> 02:59:03,200
PORTALS PUTTING IN YOUR GENETIC

4756
02:59:03,200 --> 02:59:04,640
VARIANT AND SEE WHAT IS KNOWN

4757
02:59:04,640 --> 02:59:08,560
ABOUT THAT. ALL RIGHT. I CAN

4758
02:59:08,560 --> 02:59:10,320
IMAGINE A SITUATION WHERE AS OUR

4759
02:59:10,320 --> 02:59:13,200
KNOWLEDGE INCREASES, YOU CAN

4760
02:59:13,200 --> 02:59:15,560
HAVE SOMETHING THAT SAYS THIS

4761
02:59:15,560 --> 02:59:17,040
MAY OR MAY NOT AMENABLE TO

4762
02:59:17,040 --> 02:59:18,080
PARTICULAR TYPE OF TREATMENT,

4763
02:59:18,080 --> 02:59:23,320
WHO IS WORKING ON THIS, WHO IS

4764
02:59:23,320 --> 02:59:24,680
PERSON TO GET MANY TOUCH WITH TO

4765
02:59:24,680 --> 02:59:25,680
ADVANCE THINGS FOR YOUR GROUP OR

4766
02:59:25,680 --> 02:59:28,760
YOUR PATIENT. THAT TYPE OF

4767
02:59:28,760 --> 02:59:31,040
CONNECTIVITY IS INCREDIBLY

4768
02:59:31,040 --> 02:59:32,600
IMPORTANT RESOURCE WE DON'T HAVE

4769
02:59:32,600 --> 02:59:36,040
BUILT NOW BUT WHERE WE OUGHT TO

4770
02:59:36,040 --> 02:59:41,040
BE HEADED HAPPY TO BE SUPPORTER

4771
02:59:41,040 --> 02:59:42,600
IN THAT COLLABORATIVE.

4772
02:59:42,600 --> 02:59:44,120
>> YOU HIT ON IMPORTANT POINT

4773
02:59:44,120 --> 02:59:45,480
THERE AND PROBABLY GOOD ONE TO

4774
02:59:45,480 --> 02:59:48,040
END ON. SO I WANT TO THANK ALL

4775
02:59:48,040 --> 02:59:49,560
OF OUR SPEAKERS AND AUDIENCE FOR

4776
02:59:49,560 --> 02:59:52,080
THIS WONDERFUL PRESENTATION. NOW

4777
02:59:52,080 --> 02:59:57,920
WE ARE BE ON BREAK UNTIL 2:20.

4778
02:59:57,920 --> 02:59:59,360
SO THEN MEANTIME TAKE A LOOK AT

4779
02:59:59,360 --> 03:00:02,800
THE APP A AND THE OTHER EXHIBITS

4780
03:00:02,800 --> 03:00:04,440
ON THERE AROUND TAKE THE

4781
03:00:04,440 --> 03:00:05,800
OPPORTUNITY TO CONNECT WITH

4782
03:00:05,800 --> 03:00:07,320
OTHER FOLKS ON THE APP AND KEEP

4783
03:00:07,320 --> 03:00:07,920
THE CONVERSATION GOING. THANK

4784
03:00:07,920 --> 03:00:15,000
YOU. 

4785
03:00:15,000 --> 03:00:18,080
>> HI, EVERYONE, WELCOME BACK TO

4786
03:00:18,080 --> 03:00:20,320
THE RARE DISEASE DAY AT NIH. I'M

4787
03:00:20,320 --> 03:00:22,520
PJ BROOKS, ACTING DIRECTOR OF

4788
03:00:22,520 --> 03:00:24,080
OFFICE OF RARE DISEASES

4789
03:00:24,080 --> 03:00:25,640
RESEARCH. HAPPY TO PRESENT

4790
03:00:25,640 --> 03:00:30,120
UPDATE ON OUR ACTIVITIES.  FIRST

4791
03:00:30,120 --> 03:00:31,880
I WANT TO ACKNOWLEDGE THE GREAT

4792
03:00:31,880 --> 03:00:34,280
COLLEAGUES HERE IN THE RDR. IT

4793
03:00:34,280 --> 03:00:35,720
IS AN HONOR TO BE ACTING

4794
03:00:35,720 --> 03:00:39,160
DIRECTOR. OF COURSE I'M IN THIS

4795
03:00:39,160 --> 03:00:42,080
POSITION BECAUSE OF THE

4796
03:00:42,080 --> 03:00:45,640
DEPARTURE OF ANN PARISER FOR HER

4797
03:00:45,640 --> 03:00:47,280
WORK IN THE FEDERAL GOVERNMENT,

4798
03:00:47,280 --> 03:00:48,880
THANKS FOR HER 20 YEARS WORKING

4799
03:00:48,880 --> 03:00:50,160
IN RARE DISEASE PATIENTS IN THE

4800
03:00:50,160 --> 03:00:53,120
FEDERAL GOVERNMENT AT FDA AND

4801
03:00:53,120 --> 03:00:54,840
ORDR NCATS.  CERTAINLY GOING TO

4802
03:00:54,840 --> 03:00:56,800
MISS HER, I CAN SAY FROM MY

4803
03:00:56,800 --> 03:00:59,480
PERSONAL PERSPECTIVE WORKING

4804
03:00:59,480 --> 03:01:01,800
UNDER ANN IS THE DEPUTY DIRECTOR

4805
03:01:01,800 --> 03:01:04,760
OF ORDR IS A GREAT JOB. WHAT

4806
03:01:04,760 --> 03:01:07,000
DOES MAKE ME HAPPY IS I'M SURE

4807
03:01:07,000 --> 03:01:08,040
ANN WILL BE CONTINUE TO BE

4808
03:01:08,040 --> 03:01:09,280
INVOLVED IN RARE DISEASE

4809
03:01:09,280 --> 03:01:11,080
RESEARCH IN ONE FORM OR THE

4810
03:01:11,080 --> 03:01:12,880
OTHER. AS WE GO FORWARD.  THANK

4811
03:01:12,880 --> 03:01:17,760
YOU, ANN.  SO WE HAVE A LOT OF

4812
03:01:17,760 --> 03:01:19,560
ACTIVITY GOING ON IN ORDR BUT I

4813
03:01:19,560 --> 03:01:21,280
HAVE TEN MINUTES SO NOT AGE TO

4814
03:01:21,280 --> 03:01:25,120
HIT ALL OF THEM. MY COLLEAGUES

4815
03:01:25,120 --> 03:01:26,880
ERIC AND AINSLIE WILL TALK THE

4816
03:01:26,880 --> 03:01:28,480
OTHER ACTIVITIES JUST AFTER I'M

4817
03:01:28,480 --> 03:01:34,520
FINISHED.  ONE OF THE BIGGEST

4818
03:01:34,520 --> 03:01:35,920
THINGS THAT MOTIVATES OUR WORK

4819
03:01:35,920 --> 03:01:37,880
AND THAT WE KEEP IN MIND IS THE

4820
03:01:37,880 --> 03:01:39,520
GULF BETWEEN THE NUMBER OF KNOWN

4821
03:01:39,520 --> 03:01:41,080
-- DISEASE WITH KNOWN MOLECULAR

4822
03:01:41,080 --> 03:01:42,600
BASIS AN THOSE WITH AN EFFECTIVE

4823
03:01:42,600 --> 03:01:46,120
THERAPY.  YOU ANTICIPATE AS WE

4824
03:01:46,120 --> 03:01:48,120
KNOW ABOUT MOLECULAR BASE OF

4825
03:01:48,120 --> 03:01:49,920
DISEASE WE DEVELOP THERAPIES BUT

4826
03:01:49,920 --> 03:01:51,920
IN FACT THERE'S A GREAT LAG

4827
03:01:51,920 --> 03:01:54,360
THERE, WE HAVE GOT ALMOST 7,000

4828
03:01:54,360 --> 03:01:55,880
MORE DISEASE WITH KNOWN

4829
03:01:55,880 --> 03:01:57,640
MOLECULAR BASIS AN ONLY A A FEW

4830
03:01:57,640 --> 03:01:59,760
HUNDRED WITH THERAPIES.  IT IS

4831
03:01:59,760 --> 03:02:01,560
CLEAR AT THE RATE WE ARE GOING

4832
03:02:01,560 --> 03:02:03,520
IT WILL TAKE TOO LONG TO GET

4833
03:02:03,520 --> 03:02:05,320
TREATMENTS AND THERAPIES FOR ALL

4834
03:02:05,320 --> 03:02:07,040
THESE DISEASES SO YOU NEED TO

4835
03:02:07,040 --> 03:02:08,680
THINK OF THE WHOLE PROBLEM

4836
03:02:08,680 --> 03:02:10,560
FAIRLY RADICALLY DIFFERENT WAY.

4837
03:02:10,560 --> 03:02:11,480
INCREMENTAL SOLUTIONS I THINK

4838
03:02:11,480 --> 03:02:12,680
ARE NOT GOING TO CUT IT AT THIS

4839
03:02:12,680 --> 03:02:20,320
POINT. A LOT OF THINGS WE DO AT

4840
03:02:20,320 --> 03:02:23,200
ORDR NCATS AND COLLABORATORS,

4841
03:02:23,200 --> 03:02:25,960
ARE TRYING TO FIND WAYS OF DOING

4842
03:02:25,960 --> 03:02:29,040
THINGS, MANY DISEASES AT A TIME.

4843
03:02:29,040 --> 03:02:30,440
IN OTHER WORDS GETTING BEYOND

4844
03:02:30,440 --> 03:02:32,080
APPROACHES THAT ARE APPLICABLE

4845
03:02:32,080 --> 03:02:34,800
TO SINGLE DISEASES, AND LOOK AT

4846
03:02:34,800 --> 03:02:36,560
MORE THERAPEUTIC PLATFORM

4847
03:02:36,560 --> 03:02:38,200
APPROACHES THAT ARE BROADLY

4848
03:02:38,200 --> 03:02:39,720
APPLICABLE SO NOT HAVING TO

4849
03:02:39,720 --> 03:02:41,280
REPEAT EVERYTHING OVER AND OVER

4850
03:02:41,280 --> 03:02:42,800
AGAIN FOR 7,000 OR SO RARE

4851
03:02:42,800 --> 03:02:48,080
DISEASES.  THIS SOMETHING THAT

4852
03:02:48,080 --> 03:02:50,040
WE HAVE BEEN DOING IN ORDR AND

4853
03:02:50,040 --> 03:02:51,880
NIH FOR A LONG TIME. WE ARE NOW

4854
03:02:51,880 --> 03:02:53,960
IN THE FOURTH ITERATION OF THE

4855
03:02:53,960 --> 03:02:55,280
RARE DISEASE CLINICAL RESEARCH

4856
03:02:55,280 --> 03:02:58,360
NETWORK AS YOU HEARD ABOUT. BUT

4857
03:02:58,360 --> 03:03:00,360
THE POINT I WANT TO MAKE HERE IS

4858
03:03:00,360 --> 03:03:03,280
EACH OF THESE CONSORTIA BY

4859
03:03:03,280 --> 03:03:05,520
DESIGN HAVE TO FOCUS ON AT LEAST

4860
03:03:05,520 --> 03:03:06,200
THREE OR MORE RELATED RARE

4861
03:03:06,200 --> 03:03:08,600
DISEASES. SO FOR MANY YEARS WE

4862
03:03:08,600 --> 03:03:10,000
WEREN'T THINKING ABOUT THIS IN A

4863
03:03:10,000 --> 03:03:11,720
COLLECTIVE WAY, THINKING ABOUT

4864
03:03:11,720 --> 03:03:13,360
SOLUTIONS THAT IMPACT MORE THAN

4865
03:03:13,360 --> 03:03:21,320
ONE DISEASE.  SO IN TERMS OF

4866
03:03:21,320 --> 03:03:22,600
THERAPY, A LOT OF INTEREST WE

4867
03:03:22,600 --> 03:03:24,720
HAVE NOW IS FOCUS ON SHARED

4868
03:03:24,720 --> 03:03:28,160
MOLECULAR ETIOLOGIES OR SHARED

4869
03:03:28,160 --> 03:03:30,200
DISEASE CAUSES. MOLECULAR

4870
03:03:30,200 --> 03:03:31,400
ABNORMALITIES THAT UNDERLINE

4871
03:03:31,400 --> 03:03:33,080
MULTIPLE DISEASES.  MULTIPLE

4872
03:03:33,080 --> 03:03:35,360
RARE DISEASES, SO WE CAN DEVELOP

4873
03:03:35,360 --> 03:03:36,280
THERAPEUTIC STRATEGIES BASED ON

4874
03:03:36,280 --> 03:03:39,280
THOSE.  THIS IS A DIFFERENT WAY

4875
03:03:39,280 --> 03:03:41,520
OF THINKING THINGS BECAUSE

4876
03:03:41,520 --> 03:03:44,160
TRADITIONALLY DISEASES WERE

4877
03:03:44,160 --> 03:03:46,280
IDENTIFIED AND DIAGNOSED TREATED

4878
03:03:46,280 --> 03:03:50,080
BASED ON CLINICAL

4879
03:03:50,080 --> 03:03:51,480
MANIFESTATIONS.  COLLECTION OF

4880
03:03:51,480 --> 03:03:52,760
CLINICAL MANIFESTATIONS IN THE

4881
03:03:52,760 --> 03:03:56,720
EARLY DAY OF MEDICINE AS WE

4882
03:03:56,720 --> 03:03:57,880
LEARN MORE ABOUT DISEASE,

4883
03:03:57,880 --> 03:03:59,640
GENETIC DISEASE, TURNS OUT

4884
03:03:59,640 --> 03:04:02,080
UNDERLYING THOSE THOUSANDS OF

4885
03:04:02,080 --> 03:04:02,840
RARE GENETIC DISEASES THERE IS

4886
03:04:02,840 --> 03:04:04,400
MUCH SMALLER NUMBER OF

4887
03:04:04,400 --> 03:04:07,920
UNDERLYING GENETIC CAUSES, SOME

4888
03:04:07,920 --> 03:04:11,280
LIVED HERE, PREMATURED TO CODONS

4889
03:04:11,280 --> 03:04:12,480
ABNORMAL PROTEIN FIELDING.

4890
03:04:12,480 --> 03:04:14,280
SPLICE SITE MUTATIONS THAT WE

4891
03:04:14,280 --> 03:04:17,840
HEARD THE LAST SESSION. AND WE

4892
03:04:17,840 --> 03:04:21,120
CALL SIGNALOPATHY WHICH IS ARE

4893
03:04:21,120 --> 03:04:23,040
ABNORMALITIES OF CELLULAR

4894
03:04:23,040 --> 03:04:25,120
SIGNALING PATHWAYS. THE GOOD

4895
03:04:25,120 --> 03:04:26,800
NEWS HERE IS THERE'S THERAPEUTIC

4896
03:04:26,800 --> 03:04:28,080
STRATEGIES THAT ADDRESS ALL OF

4897
03:04:28,080 --> 03:04:29,200
THESE SHARED MOLECULAR

4898
03:04:29,200 --> 03:04:32,000
ETIOLOGIES.  GIVEN THAT THIS IS

4899
03:04:32,000 --> 03:04:35,320
THE CASE, WOULDN'T IT MAKE SENSE

4900
03:04:35,320 --> 03:04:36,280
WAS DESIGN CLINICAL TRIALS TO

4901
03:04:36,280 --> 03:04:38,920
GROUP THESE DISEASES AND

4902
03:04:38,920 --> 03:04:40,400
PATIENTS WITH THEM IN DIFFERENT

4903
03:04:40,400 --> 03:04:42,200
WAYS, NON-TRADITIONAL WAYS TO

4904
03:04:42,200 --> 03:04:44,440
CREATE LARGER PATIENT POOLS OR

4905
03:04:44,440 --> 03:04:46,400
CLINICAL TRIALS SO WE CAN GET

4906
03:04:46,400 --> 03:04:49,880
MORE RARE DISEASE PATIENTS IN TO

4907
03:04:49,880 --> 03:04:51,640
CLINICAL TRIALS OF RASH MALI

4908
03:04:51,640 --> 03:04:53,080
DEFINED DRUGS THAN IF WE DID

4909
03:04:53,080 --> 03:04:56,280
SIMPLY ONE DISEASE AT A TIME. WE

4910
03:04:56,280 --> 03:05:00,920
THINK OF THIS BASED ON THE

4911
03:05:00,920 --> 03:05:04,280
ACRONYM, SAME THERAPEUTICS BASED

4912
03:05:04,280 --> 03:05:06,040
ON SHARED MOLECULAR ETIOLOGY.

4913
03:05:06,040 --> 03:05:08,040
THERE IS A PRESENCE FOR DOING

4914
03:05:08,040 --> 03:05:11,040
THIS, AND IT COMES FROM

4915
03:05:11,040 --> 03:05:12,080
GENOMICALLY DRIVEN ONCOLOGY

4916
03:05:12,080 --> 03:05:13,720
BASKET TRIALS SO IN THE CANCER

4917
03:05:13,720 --> 03:05:17,720
FIELD SOME OF THE MOST EXCITING

4918
03:05:17,720 --> 03:05:19,400
WORK THAT HAS EXAMINE DOWN THE

4919
03:05:19,400 --> 03:05:21,480
PAST FEW YEARS IS IDENTIFY DRUGS

4920
03:05:21,480 --> 03:05:22,960
TA TARGET MOLECULAR

4921
03:05:22,960 --> 03:05:23,960
ABNORMALITIES THAT CUT ACROSS

4922
03:05:23,960 --> 03:05:28,840
MULTIPLE CANCER. SO INSTEAD OF

4923
03:05:28,840 --> 03:05:31,040
DEVELOPING A DRUG FOR COLON

4924
03:05:31,040 --> 03:05:32,120
CANCER, A DIFFERENT KIND OF

4925
03:05:32,120 --> 03:05:33,800
CANCER OR THYROID CANCER, YOU

4926
03:05:33,800 --> 03:05:36,360
SAY LET'S FORGET ABOUT THE

4927
03:05:36,360 --> 03:05:38,200
LOCATION OF THE BODY THE CANCER

4928
03:05:38,200 --> 03:05:41,080
IS IN AND SAY DEVELOP A DRUG

4929
03:05:41,080 --> 03:05:43,280
THAT HITS MOLECULAR PATHWAY THAT

4930
03:05:43,280 --> 03:05:47,040
HIT MULTIPLE TYPES OF CANCERS.

4931
03:05:47,040 --> 03:05:49,320
IT IS CALLED THE BASKET TRIAL

4932
03:05:49,320 --> 03:05:49,960
BECAUSE YOU PUT DIFFERENT

4933
03:05:49,960 --> 03:05:51,520
CANCERS OR PATIENTS WITH

4934
03:05:51,520 --> 03:05:53,280
DIFFERENT CANCERS IN A BASKET TO

4935
03:05:53,280 --> 03:05:56,600
DO THE CLINICAL TRIAL. THE

4936
03:05:56,600 --> 03:05:58,080
IMPORTANT THING HERE IS THAT

4937
03:05:58,080 --> 03:05:59,640
THIS APPROACH IS NOT ONLY

4938
03:05:59,640 --> 03:06:02,080
SUCCESSFUL BUT LED TO FDA

4939
03:06:02,080 --> 03:06:03,920
APPROVAL FOR A DRUG TO TREAT

4940
03:06:03,920 --> 03:06:06,160
THIS PARTICULAR CLASS OF CANCER,

4941
03:06:06,160 --> 03:06:07,400
THE DETAILS AREN'T IMPORTANT,

4942
03:06:07,400 --> 03:06:08,000
WHAT IS IMPORTANT IS THE

4943
03:06:08,000 --> 03:06:13,360
APPROACH GROUPING PATIENTS BY

4944
03:06:13,360 --> 03:06:14,600
MOLECULAR ABNORMALITY RATHER

4945
03:06:14,600 --> 03:06:16,560
THAN PHENOTYPIC THE WAY THE

4946
03:06:16,560 --> 03:06:18,160
DISEASE PRESENTS IT SEEMS

4947
03:06:18,160 --> 03:06:19,440
OBVIOUS THAT YOU CAN BE ABLE TO

4948
03:06:19,440 --> 03:06:20,480
DO THIS FOR RARE DISEASE AS

4949
03:06:20,480 --> 03:06:25,200
WELL. SO WE HAVE TO HAVE A

4950
03:06:25,200 --> 03:06:27,000
FUNDING OPPORTUNITY NOW IT IS

4951
03:06:27,000 --> 03:06:28,480
CLOSED, WE HAVE TWO ONGOING

4952
03:06:28,480 --> 03:06:33,520
PROJECTS THAT ARE DEVELOPING

4953
03:06:33,520 --> 03:06:34,440
BASKET CLINICAL TRIALS DRUGGED

4954
03:06:34,440 --> 03:06:36,360
TARGETING SHARED MOLECULAR

4955
03:06:36,360 --> 03:06:37,600
ETIOLOGIES AND RARE DISEASE, TWO

4956
03:06:37,600 --> 03:06:41,160
ARE LISTED HERE.  YOU CAN SEE

4957
03:06:41,160 --> 03:06:43,760
THE SECOND ONE, IT IS ALMOST

4958
03:06:43,760 --> 03:06:46,800
REDEFINING OF DISEASE BASE ON

4959
03:06:46,800 --> 03:06:48,480
MOLECULAR ABNORMALITY, THESE ARE

4960
03:06:48,480 --> 03:06:51,360
THINGS THAT WOULD BE VALUABLE

4961
03:06:51,360 --> 03:06:56,040
GOING FORWARD A BIG ASPECT IS TO

4962
03:06:56,040 --> 03:06:58,440
GO FORWARD TO FDA WITH PLANS FOR

4963
03:06:58,440 --> 03:07:02,240
SUPPORTING THESE BASKET TRIALS

4964
03:07:02,240 --> 03:07:04,240
WORKING WITH THEM IDENTIFY A

4965
03:07:04,240 --> 03:07:11,760
THERAPEUTIC PATHWAY. BASED ON

4966
03:07:11,760 --> 03:07:13,760
RESIDENT THE ONCOLOGY BASKET

4967
03:07:13,760 --> 03:07:16,080
TRIALS. WE HAVE TAKEN THIS

4968
03:07:16,080 --> 03:07:17,360
APPROACH EVEN FURTHER OR ARE

4969
03:07:17,360 --> 03:07:19,160
TAKING IT FURTHER, AS MANY OF

4970
03:07:19,160 --> 03:07:21,600
YOU MAY KNOW, THAT WE AT NCATS

4971
03:07:21,600 --> 03:07:23,480
AND INDEED SEVERAL NIH

4972
03:07:23,480 --> 03:07:24,560
INSTITUTES AND CENTERS ARE PART

4973
03:07:24,560 --> 03:07:26,080
OF THE INTERNATIONAL RARE

4974
03:07:26,080 --> 03:07:31,880
DISEASES RESEARCH CONSORTIUM OR

4975
03:07:31,880 --> 03:07:34,440
RDRC. THAT'S WORKING WITH RARE

4976
03:07:34,440 --> 03:07:35,480
DISEASE REPRESENTATIVES AND

4977
03:07:35,480 --> 03:07:37,640
STAKEHOLDERS ALL OVER THE WORLD

4978
03:07:37,640 --> 03:07:39,840
ON TOPICS OF BROAD INTEREST AND

4979
03:07:39,840 --> 03:07:41,160
WITHIN THAT GROUP WE DEVELOP A

4980
03:07:41,160 --> 03:07:42,520
WORKING GROUP THAT FOCUSES

4981
03:07:42,520 --> 03:07:44,240
SPECIFICALLY ON SHARED MOLECULAR

4982
03:07:44,240 --> 03:07:45,560
ETIOLOGIES UNDERLYING MULTIPLE

4983
03:07:45,560 --> 03:07:47,160
RARE DISEASES. SO WE CAN EXPLORE

4984
03:07:47,160 --> 03:07:48,680
HOW WE CAN MOVE FORWARD WITH

4985
03:07:48,680 --> 03:07:50,520
THIS NOT JUST WITHIN THE UNITED

4986
03:07:50,520 --> 03:07:52,640
STATES BUT INDEED ALL OVER WORLD

4987
03:07:52,640 --> 03:07:55,040
BECAUSE AS WE KNOW RARE DISEASES

4988
03:07:55,040 --> 03:07:57,640
AFFECT PATIENTS ALL OVER WORLD.

4989
03:07:57,640 --> 03:07:59,320
THAT MAY BE ANOTHER WAY TO GET

4990
03:07:59,320 --> 03:08:00,200
MORE PATIENTS INTO THESE

4991
03:08:00,200 --> 03:08:04,960
CLINICAL TRIALS. SO THINKING

4992
03:08:04,960 --> 03:08:08,440
MORE GENERALLY ABOUT THIS, A LOT

4993
03:08:08,440 --> 03:08:11,240
OF THAT DISEASES ARE MONOGENIC

4994
03:08:11,240 --> 03:08:14,520
DISEASES. SINGLE GENE DISORDERS

4995
03:08:14,520 --> 03:08:17,080
THAT RESULT FROM INACTIVATING

4996
03:08:17,080 --> 03:08:19,840
MUTATIONS IN A SINGLE GENE AND

4997
03:08:19,840 --> 03:08:22,680
WAY TO TREAT THEM IN PRINCIPLE

4998
03:08:22,680 --> 03:08:24,720
IS BY GENE THERAPY WHICH IS TO

4999
03:08:24,720 --> 03:08:27,400
DELIVER A WORKING COPY OF THAT

5000
03:08:27,400 --> 03:08:29,080
THERAPEUTIC GENE INTO RELEVANT

5001
03:08:29,080 --> 03:08:31,080
CELLS OF TISSUES OF THE PATIENT.

5002
03:08:31,080 --> 03:08:34,560
FOR THIS, DEVELOPING THERAPEUTIC

5003
03:08:34,560 --> 03:08:36,240
PLATFORM IS BASED ON

5004
03:08:36,240 --> 03:08:38,760
ADENOASSOCIATED VIRUS OR AAV.

5005
03:08:38,760 --> 03:08:40,520
WHICH IS A SIMPLE SMALL VIRUS

5006
03:08:40,520 --> 03:08:42,760
THAT INFECT MANY OF US HAVE BEEN

5007
03:08:42,760 --> 03:08:45,240
EXPOSED TO THAT BY ITSELF

5008
03:08:45,240 --> 03:08:47,120
DOESN'T CAUSE ANY HUMAN DISEASE.

5009
03:08:47,120 --> 03:08:50,320
SO DO AN AAV GENE THERAPY IS

5010
03:08:50,320 --> 03:08:52,480
TAKE VIRAL GENES OUT AND PUT

5011
03:08:52,480 --> 03:08:53,840
THERAPEUTIC HUMAN GENES IN,

5012
03:08:53,840 --> 03:08:55,360
THAT'S HOW YOU DEVELOP THERAPIES

5013
03:08:55,360 --> 03:08:57,520
FOR INDIVIDUAL DISEASES. SO YOU

5014
03:08:57,520 --> 03:08:59,520
CAN SEE THIS KIND OF PLATFORM.

5015
03:08:59,520 --> 03:09:00,560
ANOTHER WAY WE LIKE TO THINK

5016
03:09:00,560 --> 03:09:02,280
ABOUT AAV IS THAT IT IS SORTS OF

5017
03:09:02,280 --> 03:09:05,680
LIKE A DELIVERY BOX FOR

5018
03:09:05,680 --> 03:09:08,080
THERAPEUTIC GENES BUT A BOX THAT

5019
03:09:08,080 --> 03:09:10,080
IS DIFFERENT, DIFFERENT FLAVORS

5020
03:09:10,080 --> 03:09:12,280
ARE ESSENTIALLY PRE-ADDRESSED TO

5021
03:09:12,280 --> 03:09:14,320
GO TO SPECIFIC CELLS AN TISSUES.

5022
03:09:14,320 --> 03:09:15,800
OR PARTICULAR CELLS AN TISSUES.

5023
03:09:15,800 --> 03:09:16,680
THEY DON'T NECESSARILY HAVE TO

5024
03:09:16,680 --> 03:09:18,000
BE ONE, IN SOME CASES MORE THAN

5025
03:09:18,000 --> 03:09:22,760
ONE.  SO PARTICULAR DELIVERY BOX

5026
03:09:22,760 --> 03:09:25,480
COULD BE USED FOR DISEASES THAT

5027
03:09:25,480 --> 03:09:26,120
AFFECT SAY THE MUSCLE AND THE

5028
03:09:26,120 --> 03:09:32,640
LIVER.  IN PRINCIPLE TO BE USED

5029
03:09:32,640 --> 03:09:33,840
TO TREAT MULTIPLE DISEASES SOME

5030
03:09:33,840 --> 03:09:35,720
WHICH AFFECT THE MUSCLE AND SOME

5031
03:09:35,720 --> 03:09:36,920
AFFECT THE LIVER. THIS WOULD BE

5032
03:09:36,920 --> 03:09:39,600
A DIFFERENT WAY OF THINKING

5033
03:09:39,600 --> 03:09:40,280
ABOUT CLINICAL TRIALS ONE

5034
03:09:40,280 --> 03:09:42,600
DISEASE AT A TIME. SO BASED ON

5035
03:09:42,600 --> 03:09:44,680
THIS, WE HAVE DEVELOPED THE

5036
03:09:44,680 --> 03:09:47,880
PLATFORM VECTOR GENE GENE GENE

5037
03:09:47,880 --> 03:09:49,680
GENE THERAPIES WORKING WITH

5038
03:09:49,680 --> 03:09:51,880
COLLEAGUES WITHIN ORDR AS WELL

5039
03:09:51,880 --> 03:09:55,360
AS NHGRI AND NINDS. WE THINK OF

5040
03:09:55,360 --> 03:09:57,840
THIS AS A PUBLIC PLATFORM VECTOR

5041
03:09:57,840 --> 03:09:59,760
GENE THERAPY TRIAL MOVING

5042
03:09:59,760 --> 03:10:01,880
FORWARD WITH GENE THERAPY FOR

5043
03:10:01,880 --> 03:10:04,640
FOUR GENETIC DISEASES USINGS THE

5044
03:10:04,640 --> 03:10:06,920
SAME AAV VECTOR, THE ONE WE ARE

5045
03:10:06,920 --> 03:10:09,160
USING IS, AAV 9 AND SAME ROUTE

5046
03:10:09,160 --> 03:10:13,720
OF ADMINISTRATION.  IMPORTANTLY

5047
03:10:13,720 --> 03:10:16,760
THE SAME PRODUCTION PURIFICATION

5048
03:10:16,760 --> 03:10:18,240
METHOD SO EVERYTHING THE SAME

5049
03:10:18,240 --> 03:10:20,640
EXCEPT CHANGE THERAPEUTIC

5050
03:10:20,640 --> 03:10:22,480
INFORMATION WITHIN THE AAV GENE

5051
03:10:22,480 --> 03:10:27,480
THERAPY.  SO REALLY EXPLORE HOW

5052
03:10:27,480 --> 03:10:29,240
MUCH WE CAN MAKE INCREASE

5053
03:10:29,240 --> 03:10:30,080
EFFICIENCY OF THE CLINICAL

5054
03:10:30,080 --> 03:10:33,520
TRIALS STARTUP PROCESS. BY USING

5055
03:10:33,520 --> 03:10:35,280
THIS PLATFORM EXPLICIT FROM THE

5056
03:10:35,280 --> 03:10:36,880
VERY BEGINNING. I THINK A KEY

5057
03:10:36,880 --> 03:10:38,520
PART OF WHAT WE ARE DOING HERE

5058
03:10:38,520 --> 03:10:42,080
THAT MAKES A UNIQUE EFFORT IS WE

5059
03:10:42,080 --> 03:10:44,360
PLAN TO MAKE PROJECT RESULTS

5060
03:10:44,360 --> 03:10:46,040
INCLUDING COMMUNICATION TO FDA

5061
03:10:46,040 --> 03:10:48,840
PUBLICLY AVAILABLE. SO OTHERS

5062
03:10:48,840 --> 03:10:50,720
CAN SEE HOW WE ARE TRYING TO

5063
03:10:50,720 --> 03:10:54,160
DEVELOP OUTLINE THESE MORE

5064
03:10:54,160 --> 03:10:58,880
EFFICIENT REGULATORY PATHWAY AND

5065
03:10:58,880 --> 03:11:01,400
INDEED USE SOME OF THE DOCUMENTS

5066
03:11:01,400 --> 03:11:02,240
FOR OTHER DISEASES WHEN THEY GO

5067
03:11:02,240 --> 03:11:04,240
TO THE FDA WITH THEIR GENE

5068
03:11:04,240 --> 03:11:09,640
THERAPY PROPOSALS.  PROGRESS ON

5069
03:11:09,640 --> 03:11:12,840
THIS IS IDENTIFYING LEAD

5070
03:11:12,840 --> 03:11:15,240
CANDIDATE, HPCCA, WHICH IS TO

5071
03:11:15,240 --> 03:11:18,440
TREAT A RARE METABOLIC DISEASE

5072
03:11:18,440 --> 03:11:20,800
APPROPRIATE FREIONIC ACIDEMIA.

5073
03:11:20,800 --> 03:11:24,360
WORKING WITH CHUCK FROM NHGRI.

5074
03:11:24,360 --> 03:11:26,800
WE RECEIVED FDA ORPHAN DRUG

5075
03:11:26,800 --> 03:11:29,600
DESIGNATION IN OCTOBER OF 2021.

5076
03:11:29,600 --> 03:11:31,760
WE ARE IN THE PROCESS OF WRITING

5077
03:11:31,760 --> 03:11:33,880
PAPER AND MAKING THAT

5078
03:11:33,880 --> 03:11:35,640
DESIGNATION SUBMISSION DOCUMENTS

5079
03:11:35,640 --> 03:11:37,840
PUBLIC AND PROCESS. WE HAVE HAD

5080
03:11:37,840 --> 03:11:40,480
AN INTERACT MEETING WITH THE FDA

5081
03:11:40,480 --> 03:11:41,800
CBER IN JULY AND PLAN TO MAKE

5082
03:11:41,800 --> 03:11:43,120
DOCUMENTS AND OUTCOMES FROM THAT

5083
03:11:43,120 --> 03:11:45,280
PUBLIC AS WELL.  AND I WILL

5084
03:11:45,280 --> 03:11:46,840
CONTINUE TO PROGRESS WITH OTHER

5085
03:11:46,840 --> 03:11:48,640
ASPECTS OF THE PAGT PROGRAM AND

5086
03:11:48,640 --> 03:11:51,160
YOU CAN FOLLOW ALL THE PROGRESS

5087
03:11:51,160 --> 03:11:56,280
ON THAT AT THIS WEBSITE SHOWN

5088
03:11:56,280 --> 03:11:58,880
HERE. SOMEWHAT RELATED EFFORT

5089
03:11:58,880 --> 03:12:01,680
THAT IS ONGOING AT LEAST RELATED

5090
03:12:01,680 --> 03:12:03,160
TERMS OF GENERAL GOAL OF

5091
03:12:03,160 --> 03:12:04,840
INCREASING EFFICIENCY OF AAV

5092
03:12:04,840 --> 03:12:07,040
GENE THERAPY, IS CALLED THE B

5093
03:12:07,040 --> 03:12:09,080
SPOKE GENE THERAPY CONSORTIUM,

5094
03:12:09,080 --> 03:12:12,920
THAT DR. TABAK AND DR. RUTTER

5095
03:12:12,920 --> 03:12:15,440
REFERRED TO EARLIER, THE BGTC,

5096
03:12:15,440 --> 03:12:17,880
THIS IS AN ORGANIZED BY

5097
03:12:17,880 --> 03:12:21,200
FOUNDATION FOR THE NIH. IT IS A

5098
03:12:21,200 --> 03:12:22,880
PUBLIC PRIVATE PARTNERSHIP

5099
03:12:22,880 --> 03:12:24,080
INVOLVING MULTIPLE NIH

5100
03:12:24,080 --> 03:12:27,080
INSTITUTES AND CENTERS. AS WELL

5101
03:12:27,080 --> 03:12:28,240
AS PHARMACEUTICAL COMPANY

5102
03:12:28,240 --> 03:12:30,440
PARTNERS AND NON-PROFIT

5103
03:12:30,440 --> 03:12:33,360
ENTITIES. THERE ARE TWO

5104
03:12:33,360 --> 03:12:36,000
COMPONENTS OF BGTC. ONE FOCUSED

5105
03:12:36,000 --> 03:12:39,200
ON STUDYING BASIC BIOLOGY OF

5106
03:12:39,200 --> 03:12:40,640
AAV, SO AS TO BE ABLE TO

5107
03:12:40,640 --> 03:12:42,640
INCREASE THE EFFICIENCY OF

5108
03:12:42,640 --> 03:12:45,840
PRODUCING GENE THERAPY VECTORS,

5109
03:12:45,840 --> 03:12:48,640
FOR CLINICAL USE AND HOPEFULLY

5110
03:12:48,640 --> 03:12:50,880
ENHANCING THERAPEUTIC IMPACT OF

5111
03:12:50,880 --> 03:12:52,440
AAV GENE THERAPY, ALL WHICH ARE

5112
03:12:52,440 --> 03:12:54,080
DESIGNED TO MAKE THE WHOLE

5113
03:12:54,080 --> 03:12:55,680
PROCESS EASY FASTER AND MORE

5114
03:12:55,680 --> 03:13:00,160
EFFICIENT. THERE IS A LARGE

5115
03:13:00,160 --> 03:13:01,880
CLINICAL COMPONENT TO THE BGTC

5116
03:13:01,880 --> 03:13:04,480
THAT IS FOCUSED ON ADVANCING AAV

5117
03:13:04,480 --> 03:13:06,480
TECHNOLOGIES AND VECTORS FOR

5118
03:13:06,480 --> 03:13:10,320
CLINICAL APPLICATION.  SO FOR

5119
03:13:10,320 --> 03:13:13,880
THIS WE PLAN TO IDENTIFY BETWEEN

5120
03:13:13,880 --> 03:13:15,640
THREE AND SIX DISEASES TO MOVE

5121
03:13:15,640 --> 03:13:16,880
FORWARD IN A PARALLEL FASHION

5122
03:13:16,880 --> 03:13:20,640
WITH THE IDEA OF STREAMLINING

5123
03:13:20,640 --> 03:13:23,400
AND HARMONIZING THINGS LIKE

5124
03:13:23,400 --> 03:13:24,440
MANUFACTURING THERAPEUTIC AND

5125
03:13:24,440 --> 03:13:29,280
THE WAY WE ASSAY THE THERAPEUTIC

5126
03:13:29,280 --> 03:13:31,520
MADE, ANALYTICAL TESTS USED, THE

5127
03:13:31,520 --> 03:13:35,000
TOXICOLOGY PACKAGE THAT IS DONE.

5128
03:13:35,000 --> 03:13:37,080
THE GOAL, THE GOAL OF ALL OF IT

5129
03:13:37,080 --> 03:13:38,680
IS TO STREAMLINE EGGLATORY

5130
03:13:38,680 --> 03:13:39,920
PATHWAY AND INCREASE EFFICIENCY

5131
03:13:39,920 --> 03:13:42,280
OF GETTING THESE THERAPIES INTO

5132
03:13:42,280 --> 03:13:45,720
PATIENTS.  IMPORTANTLY THE FOCUS

5133
03:13:45,720 --> 03:13:49,120
OF THE B SPOKE GENE THERAPY

5134
03:13:49,120 --> 03:13:52,040
CONSORTIUM IS ON DISEASE OF NO

5135
03:13:52,040 --> 03:13:53,680
COMMERCIAL INTEREST DUE TO LOW

5136
03:13:53,680 --> 03:13:55,120
PREVALENCE. THAT IS HOW WE ARE

5137
03:13:55,120 --> 03:13:56,880
ABLE TO DESIGN THIS PROGRAM AND

5138
03:13:56,880 --> 03:13:58,840
MAKE IT INTO THE PRE-COMPETITIVE

5139
03:13:58,840 --> 03:14:01,920
SPACE AND HAVE THE PARTICIPATION

5140
03:14:01,920 --> 03:14:03,760
OF DIFFERENT PHARMACEUTICAL

5141
03:14:03,760 --> 03:14:05,520
COMPANIES THAT ARE VALUABLE TO

5142
03:14:05,520 --> 03:14:07,640
THIS EFFORT. YOU CAN FOLLOW

5143
03:14:07,640 --> 03:14:09,320
ALONG WITH THE PROGRESS AT THE

5144
03:14:09,320 --> 03:14:13,080
WEBSITE SHOWN BELOW. OF COURSE

5145
03:14:13,080 --> 03:14:15,600
FOR SINGLE GENE DISORDERS, AT

5146
03:14:15,600 --> 03:14:17,640
LEAST IN EARLY ON BUT PERHAPS

5147
03:14:17,640 --> 03:14:19,560
FOR MORE COMMON DISORDERS, ALSO

5148
03:14:19,560 --> 03:14:25,200
BUT PARTICULARLY FOR SINGLE GENE

5149
03:14:25,200 --> 03:14:27,240
DISORDERS, A REAL PLATFORM

5150
03:14:27,240 --> 03:14:28,800
THERAPEUTIC STRATEGY WOULD BE TO

5151
03:14:28,800 --> 03:14:30,280
USE ENZYMES THAT ARE GOING TO

5152
03:14:30,280 --> 03:14:32,360
THE CELL AND CORRECT THE DNA

5153
03:14:32,360 --> 03:14:32,920
ABNORMALITIES IN INDIVIDUAL

5154
03:14:32,920 --> 03:14:35,800
CELLS. SO RATHER THAN PUTTING IN

5155
03:14:35,800 --> 03:14:37,880
AN ACTIVE COPY OF MISSING GENE

5156
03:14:37,880 --> 03:14:40,040
ACTUALLY GO IN AND CORRECT THE

5157
03:14:40,040 --> 03:14:44,120
GENE ITSELF, THIS CAN BE DONE

5158
03:14:44,120 --> 03:14:45,480
SHOWN MULTIPLE TIMES USING

5159
03:14:45,480 --> 03:14:47,840
PROCESS OF GENE EDITING. 

5160
03:14:47,840 --> 03:14:50,720
CRISPER CAS 9 IS THE MOST

5161
03:14:50,720 --> 03:14:51,960
FAMILIAR FORM BUT THERE'S OTHER

5162
03:14:51,960 --> 03:14:54,000
WAYS TO DO GENOME EDITING. YOU

5163
03:14:54,000 --> 03:14:56,840
HEARD LAST YEAR THE TALK

5164
03:14:56,840 --> 03:15:00,600
JENNIFER DOWD WHO WON THE NOBEL

5165
03:15:00,600 --> 03:15:01,720
PRIZE FOR IDENTIFYING THE

5166
03:15:01,720 --> 03:15:04,880
CRISPER CAS 9 SYSTEM. BASED ON

5167
03:15:04,880 --> 03:15:06,440
THE NIH COMMON FUND DECIDED TO

5168
03:15:06,440 --> 03:15:08,800
SET UP A NEW PROGRAM ON SOMATIC

5169
03:15:08,800 --> 03:15:11,520
CELL GENOME EDITING. TO REALLY

5170
03:15:11,520 --> 03:15:15,040
DEVELOP TOOLS AND TECHNOLOGIES

5171
03:15:15,040 --> 03:15:17,360
TO SPEED THE PROGRESS OF GENOME

5172
03:15:17,360 --> 03:15:20,920
EDITING TO CLINIC. AND WE HAVE

5173
03:15:20,920 --> 03:15:23,400
BEEN PRIVILEGED AT NIH NCATS TO

5174
03:15:23,400 --> 03:15:24,880
BE ONE OF THE LEADERS AND

5175
03:15:24,880 --> 03:15:26,000
COORDINATORS OF THE PROGRAM

5176
03:15:26,000 --> 03:15:28,320
WORKING WITH NINDS AND MANY OF

5177
03:15:28,320 --> 03:15:31,600
OUR OTHER NIH COLLEAGUES.  AND

5178
03:15:31,600 --> 03:15:34,920
ONE OF THE MANY DISCOVERIES AND

5179
03:15:34,920 --> 03:15:36,280
PUBLICATIONS THAT CAME OUT OF

5180
03:15:36,280 --> 03:15:40,080
THIS IS WORK BY DAVID LU WHOSE

5181
03:15:40,080 --> 03:15:41,880
GROUP DEVELOPED PRIME EDITING.

5182
03:15:41,880 --> 03:15:46,080
THE PRIME EDITOR ENZYME IS A

5183
03:15:46,080 --> 03:15:47,760
GENOME EDITOR ENZYME THAT WHEN

5184
03:15:47,760 --> 03:15:52,080
IT GOES INTO CELLS CAN CORRECT

5185
03:15:52,080 --> 03:15:53,520
DIFFERENT KINDS OF MUTATIONS

5186
03:15:53,520 --> 03:15:58,000
ANDS DESIGNED IN A WAY THAT

5187
03:15:58,000 --> 03:16:03,000
COULD IN PRINCIPLE SINGLE EDITOR

5188
03:16:03,000 --> 03:16:05,360
ENZYME CORRECT ALMOST 90% OF

5189
03:16:05,360 --> 03:16:06,840
HUMAN DISEASE CAUSING MUTATIONS

5190
03:16:06,840 --> 03:16:08,120
SO VERY CLEARLY A THERAPEUTIC

5191
03:16:08,120 --> 03:16:12,640
PLATFORM P ONE THAT HAS BROAD

5192
03:16:12,640 --> 03:16:14,880
IMPLICATIONS FOR MONOGENIC

5193
03:16:14,880 --> 03:16:16,720
DISEASES AND IN THE FUTURE MORE

5194
03:16:16,720 --> 03:16:21,120
COMMON DISEASE AS WELL.  AS WE

5195
03:16:21,120 --> 03:16:22,280
THINK ABOUT THE NEXT PHASE OF

5196
03:16:22,280 --> 03:16:24,640
THE COMMON FUND PROGRAM WE

5197
03:16:24,640 --> 03:16:25,960
PROPOSE THE SECONDS PHASE SHOWN

5198
03:16:25,960 --> 03:16:29,560
UP HERE, SEEG PHASE 2 PRESENTED

5199
03:16:29,560 --> 03:16:32,640
THE NIH COUNCIL OF COUNCILS AND

5200
03:16:32,640 --> 03:16:34,360
APPROVED SO WE ARE PLANNING TO

5201
03:16:34,360 --> 03:16:37,840
GO WITH PHASE 2. THE SCEG

5202
03:16:37,840 --> 03:16:39,240
PROGRAM, I WANT TO MENTION HERE

5203
03:16:39,240 --> 03:16:41,080
BECAUSE ONE OF THE COMPONENTS OF

5204
03:16:41,080 --> 03:16:42,280
THIS PROGRAM THAT WE ARE

5205
03:16:42,280 --> 03:16:44,280
PROPOSING ARE TO SUPPORT

5206
03:16:44,280 --> 03:16:46,480
CLINICAL TRIALS THAT WILL

5207
03:16:46,480 --> 03:16:47,440
REQUIRE DOING MORE THAN ONE

5208
03:16:47,440 --> 03:16:51,280
DISEASE AT A TIME. SO REALLY TO

5209
03:16:51,280 --> 03:16:52,640
DEVELOP GENOME EDITING PERHAPS

5210
03:16:52,640 --> 03:16:54,480
USING THE PRIME EDITOR OTHER

5211
03:16:54,480 --> 03:16:55,920
TYPES OF SECOND GENERATION

5212
03:16:55,920 --> 03:16:59,640
GENOME EDITORS, DEVELOP

5213
03:16:59,640 --> 03:17:00,880
THERAPEUTIC PLATFORM AS OPPOSED

5214
03:17:00,880 --> 03:17:04,080
TO ONE DISEASE AT A TIME METHOD.

5215
03:17:04,080 --> 03:17:05,520
BECAUSE WE THINK THAT IS WHERE

5216
03:17:05,520 --> 03:17:07,240
WE CAN HAVE GREATEST IMPACT.  WE

5217
03:17:07,240 --> 03:17:09,040
ARE NOT QUITE THERE YET IN TERMS

5218
03:17:09,040 --> 03:17:12,080
OF OFFICIALLY LAUNCHING THE

5219
03:17:12,080 --> 03:17:13,800
PROGRAM BUT WATCH THIS SPACE FOR

5220
03:17:13,800 --> 03:17:18,200
FUTURE DEVELOPMENTS HERE. 

5221
03:17:18,200 --> 03:17:19,120
FINALLY AS WE START THINKING

5222
03:17:19,120 --> 03:17:21,480
ABOUT THESE NEW THERAPEUTICSIC

5223
03:17:21,480 --> 03:17:25,480
APPROACHES SUCH AS GENE TARGET

5224
03:17:25,480 --> 03:17:27,280
THERAPY, OF THE KIND I HAVE BEEN

5225
03:17:27,280 --> 03:17:28,280
TALKING ABOUT THAT AREN'T

5226
03:17:28,280 --> 03:17:29,480
TREATMENTS FOR SPECIFIC DISEASES

5227
03:17:29,480 --> 03:17:31,480
BUT THEY ARE BROAD THERAPEUTIC

5228
03:17:31,480 --> 03:17:34,040
PLATFORMS.  THAT CAN PRINCIPLE

5229
03:17:34,040 --> 03:17:36,880
TREAT MANY DISEASES. THAT HAS

5230
03:17:36,880 --> 03:17:38,520
IMPLICATIONS NOT JUST FOR

5231
03:17:38,520 --> 03:17:39,760
CERTAIN CLINICAL TRIALS, BUT

5232
03:17:39,760 --> 03:17:41,640
EVEN MORE BROADLY MANY TERMS OF

5233
03:17:41,640 --> 03:17:45,080
THINGS LIKE DIAGNOSING DISEASE. 

5234
03:17:45,080 --> 03:17:47,200
MORE GENERALLY TO OUR SYSTEM BUT

5235
03:17:47,200 --> 03:17:50,840
WHAT WE THINK A DISEASE IS. 

5236
03:17:50,840 --> 03:17:51,880
RETURN AS IMPLICATIONS FOR

5237
03:17:51,880 --> 03:17:53,960
IDENTIFYING ALL THE PATIENTS WHO

5238
03:17:53,960 --> 03:17:55,640
MIGHT BENEFIT FROM GENE TARGETED

5239
03:17:55,640 --> 03:17:57,000
THERAPIES BECAUSE AGAIN, IT IS

5240
03:17:57,000 --> 03:17:58,920
MORE THAN A SUBSET OF DISEASES.

5241
03:17:58,920 --> 03:18:01,800
SO IT IS REALLY GOING TO HARKEN

5242
03:18:01,800 --> 03:18:03,680
A DIFFERENT WAY OF THINKING

5243
03:18:03,680 --> 03:18:05,680
ABOUT WHAT IS A DISEASE, HOW DO

5244
03:18:05,680 --> 03:18:07,480
WE IDENTIFY PATIENTS WITH THE

5245
03:18:07,480 --> 03:18:10,000
DISEASE AND GET THEM INTO

5246
03:18:10,000 --> 03:18:11,000
CLINICAL TRIALS. QUITE DIFFERENT

5247
03:18:11,000 --> 03:18:15,080
WAY OF THINKING WE DO CURRENTLY.

5248
03:18:15,080 --> 03:18:16,440
SO BACK IN THE SUMMER WE HELD A

5249
03:18:16,440 --> 03:18:18,000
MEETING ON TOPIC OF GENE TARGET

5250
03:18:18,000 --> 03:18:22,200
THERAPIES.  THAT EXPLORED

5251
03:18:22,200 --> 03:18:24,560
STRATEGIES FOR DIAGNOSING ALL

5252
03:18:24,560 --> 03:18:25,800
PARENTS WHO MIGHT BENEFIT FROM

5253
03:18:25,800 --> 03:18:27,840
GENE TARGET THERAPIES INCLUDING

5254
03:18:27,840 --> 03:18:29,840
NEWBORN SCREENING AND WHOLE

5255
03:18:29,840 --> 03:18:31,080
GENOME SEQUENCING AND

5256
03:18:31,080 --> 03:18:33,720
IMPLICATIONS OF THOSE.  I

5257
03:18:33,720 --> 03:18:35,320
ENCOURAGE YOU TO LOOK AT THAT,

5258
03:18:35,320 --> 03:18:38,640
STILL AVAILABLE ON THE NIH

5259
03:18:38,640 --> 03:18:40,200
WEBCAST SITE AND WORKING ON

5260
03:18:40,200 --> 03:18:41,880
WHITE PAPERS AND PUBLICATIONS.

5261
03:18:41,880 --> 03:18:43,600
THE IMPLICATIONS OF THIS OF

5262
03:18:43,600 --> 03:18:45,080
COURSE GO FAR BEYOND WHAT THE

5263
03:18:45,080 --> 03:18:46,440
NIH CAN DO, OUR ROLE HERE IS

5264
03:18:46,440 --> 03:18:48,360
REALLY TO CONVENE DIFFERENT

5265
03:18:48,360 --> 03:18:50,800
STAKEHOLDERS AND BEGIN A

5266
03:18:50,800 --> 03:18:51,840
CONVERSATION THAT MIGHT

5267
03:18:51,840 --> 03:18:52,880
ULTIMATELY CHANGE THESE BROADER

5268
03:18:52,880 --> 03:18:57,840
ISSUES.  SO WITH THAT, I'M GOING

5269
03:18:57,840 --> 03:19:00,480
TO STOP AND HAND IT OVER TO MY

5270
03:19:00,480 --> 03:19:02,240
COLLEAGUE AINSLIE TINSDALE WHO

5271
03:19:02,240 --> 03:19:03,920
WILL START THE NEXT SESSION WITH

5272
03:19:03,920 --> 03:19:05,280
A PARTICULAR FOCUS ON SOMETHING

5273
03:19:05,280 --> 03:19:07,720
WE HAVE BEEN THINKING ABOUT ALSO

5274
03:19:07,720 --> 03:19:09,080
IN RARE DISEASE SPACE OVER THE

5275
03:19:09,080 --> 03:19:10,400
PAST YEAR, NOT JUST US BUT

5276
03:19:10,400 --> 03:19:12,040
OTHERS WHICH IS COST OF RARE

5277
03:19:12,040 --> 03:19:33,560
DISEASES ON OUR MEDICAL SYSTEM. 

5278
03:19:33,560 --> 03:19:36,680
>> THANKS, PJ, HELLO. I HAVE

5279
03:19:36,680 --> 03:19:37,880
HOPE YOU HAVE BEEN ENJOYING RARE

5280
03:19:37,880 --> 03:19:38,880
DISEASE DAY AT NIH SO FAR. I'M

5281
03:19:38,880 --> 03:19:40,680
GOING TO SHIRR ABOUT THE IDEAS

5282
03:19:40,680 --> 03:19:42,280
INITIATIVE AT NCATS AND MORE

5283
03:19:42,280 --> 03:19:43,480
SPECIFICALLY ABOUT PILOT STUDY

5284
03:19:43,480 --> 03:19:44,560
THAT WAS PUBLISHED A FEW MONTHS

5285
03:19:44,560 --> 03:19:48,480
AGO.  IDEA STANDS FOR IMPACT

5286
03:19:48,480 --> 03:19:50,640
RARE DISEASES ON PATIENTS AND

5287
03:19:50,640 --> 03:19:52,640
HEALTHCARE SYSTEMS. THE PILOT

5288
03:19:52,640 --> 03:19:54,000
STUDY WAS OUR FIRST

5289
03:19:54,000 --> 03:19:55,320
COLLABORATIVE EFFORT OF THIS

5290
03:19:55,320 --> 03:19:58,280
LARGER SCALED INITIATIVE. THE

5291
03:19:58,280 --> 03:20:01,080
IDEAS PILOT STUDY WAS A

5292
03:20:01,080 --> 03:20:05,120
COLLABORATION AMONG NCATS OREGON

5293
03:20:05,120 --> 03:20:06,400
HEALTH AND SCIENCE UNIVERSITY,

5294
03:20:06,400 --> 03:20:10,160
UNIVERSITY OF COLORADO, SANFORD

5295
03:20:10,160 --> 03:20:11,360
HEALTH AND LIFE SCIENCES WITH

5296
03:20:11,360 --> 03:20:13,400
THE OVERARCHING GOAL OF

5297
03:20:13,400 --> 03:20:14,640
QUANTIFYING AND QUALIFYING THE

5298
03:20:14,640 --> 03:20:18,400
DISEASE BURDEN OF RARE DISEASES.

5299
03:20:18,400 --> 03:20:20,000
THIS IS A SCREEN CAPTURE OF THE

5300
03:20:20,000 --> 03:20:22,240
PAPER PUBLISHED IN IF OCTOBER IN

5301
03:20:22,240 --> 03:20:23,280
ORTHO NET JOURNAL OF RARE

5302
03:20:23,280 --> 03:20:26,520
DISEASES.  THERE ARE

5303
03:20:26,520 --> 03:20:28,960
COLLABORATION WE UTILIZE FOUR

5304
03:20:28,960 --> 03:20:30,520
HEALTHCARE SYSTEMS REPRESENTING

5305
03:20:30,520 --> 03:20:32,720
DIFFERENT GEOGRAPHIC AREAS

5306
03:20:32,720 --> 03:20:33,840
INSURANCE TYPES AND GENERAL

5307
03:20:33,840 --> 03:20:36,320
PATIENT POPULATIONS. THESE

5308
03:20:36,320 --> 03:20:38,680
SYSTEMS WERE CARRIED TO IDENTIFY

5309
03:20:38,680 --> 03:20:41,560
PATIENT COHORT FOR DIVERSE SET

5310
03:20:41,560 --> 03:20:43,600
OF 14 RARE DISEASES THAT VARIED

5311
03:20:43,600 --> 03:20:46,120
IN TERMS OF TYPICAL AGE OF

5312
03:20:46,120 --> 03:20:47,280
ONSET, SYSTEMS AFFECT AND

5313
03:20:47,280 --> 03:20:49,320
EXPECTED PREVALENCE.  THEN FOR

5314
03:20:49,320 --> 03:20:51,360
THE COHORTS IDENTIFIED, DIRECT

5315
03:20:51,360 --> 03:20:52,800
MEDICAL COSTS WERE ESTIMATED

5316
03:20:52,800 --> 03:20:55,600
USING THE DATABASES BILLING

5317
03:20:55,600 --> 03:20:57,200
RECORDS AND FINALLY THE

5318
03:20:57,200 --> 03:20:58,880
DIAGNOSTIC ODYSSEY WAS

5319
03:20:58,880 --> 03:21:02,480
QUANTIFIED AND DESCRIBED FOR

5320
03:21:02,480 --> 03:21:03,520
PATIENTS ELIMINATING NATURAL

5321
03:21:03,520 --> 03:21:05,640
HISTORY.  THE KEY FINDINGS FOR

5322
03:21:05,640 --> 03:21:08,480
THIS STUDY, ARE THAT FIRST, IT

5323
03:21:08,480 --> 03:21:10,040
IS DIFFICULT TO FIND RARE

5324
03:21:10,040 --> 03:21:11,680
DISEASE PATIENTS WITHIN

5325
03:21:11,680 --> 03:21:15,880
HEALTHCARE SYSTEMS. SINCE THE MA

5326
03:21:15,880 --> 03:21:17,800
JOE -- MAJORITY LACK A SPECIFIC

5327
03:21:17,800 --> 03:21:19,480
DIAGNOSTIC CODE.  WE FOUND ON

5328
03:21:19,480 --> 03:21:21,520
AVERAGE THE 14 PILOT RARE

5329
03:21:21,520 --> 03:21:22,960
DISEASES SHOWED HIGHER

5330
03:21:22,960 --> 03:21:24,320
PREVALENCE RATES THAN PREVIOUSLY

5331
03:21:24,320 --> 03:21:26,600
SEEN IN THE MEDICAL LITERATURE

5332
03:21:26,600 --> 03:21:29,280
ACROSS THE FOUR HEALTHCARE

5333
03:21:29,280 --> 03:21:30,880
SYSTEMS. THIS MEANS THE OFTEN

5334
03:21:30,880 --> 03:21:32,200
CITED PREVALENCE NUMBERS ARE

5335
03:21:32,200 --> 03:21:34,640
MOST LIKELY UNDERESTIMATIONS OF

5336
03:21:34,640 --> 03:21:38,320
TRUE RARE DISEASE POPULATIONS.

5337
03:21:38,320 --> 03:21:39,640
SECOND DIRECT MEDICAL COSTS OF

5338
03:21:39,640 --> 03:21:41,880
RARE DISEASES ARE VERY HIGH.

5339
03:21:41,880 --> 03:21:44,480
THREE TO FIVE TIMES HIGHER THAN

5340
03:21:44,480 --> 03:21:46,360
NON-RARE PATIENTS. IF WE

5341
03:21:46,360 --> 03:21:48,680
EXTRAPOLATE DIRECT MEDICAL COST

5342
03:21:48,680 --> 03:21:51,520
ESTIMATEDDED IN THIS STUDY TO BE

5343
03:21:51,520 --> 03:21:52,880
APPROXIMATELY 25 TO 30 MILLION

5344
03:21:52,880 --> 03:21:54,760
RARE DISEASE PATIENTS IN THE

5345
03:21:54,760 --> 03:21:57,240
UNITED STATES THE COST OF THE

5346
03:21:57,240 --> 03:21:59,720
HEALTHCARE SYSTEM IS $400

5347
03:21:59,720 --> 03:22:02,480
BILLION A YEAR. THIRD, THE

5348
03:22:02,480 --> 03:22:04,560
DIAGNOSTIC ODYSSEY IS REAL AND

5349
03:22:04,560 --> 03:22:07,160
PROLONGED. RESULTING IN

5350
03:22:07,160 --> 03:22:08,480
IRREVERSIBLE COMPLICATIONS OF

5351
03:22:08,480 --> 03:22:11,240
DISEASE AND ONGOING HIGH COST OF

5352
03:22:11,240 --> 03:22:12,920
CARE. AS ILLUSTRATED IN THE

5353
03:22:12,920 --> 03:22:14,960
PILOT STUDY DIAGNOSTIC JOURNEY

5354
03:22:14,960 --> 03:22:18,280
MAPS IN TWO HIGH COST CYSTIC

5355
03:22:18,280 --> 03:22:19,760
FIBROSIS PATIENTS SHOWED THE

5356
03:22:19,760 --> 03:22:21,680
DRASTIC DIFFERENCE THAT EARLY

5357
03:22:21,680 --> 03:22:22,640
DIAGNOSIS AND TREATMENT CAN

5358
03:22:22,640 --> 03:22:26,040
MAKE. WITH THE EARLY DIAGNOSED

5359
03:22:26,040 --> 03:22:28,600
TREATED CF PATIENT COSTING THE

5360
03:22:28,600 --> 03:22:31,200
HEALTHCARE SYSTEM ALMOST 50%

5361
03:22:31,200 --> 03:22:34,240
LESS THAN DELAYED DIAGNOSE AND

5362
03:22:34,240 --> 03:22:36,160
UNTREATED PATIENT. THESE RESULTS

5363
03:22:36,160 --> 03:22:38,000
SUGGEST THE NEED FOR MACHINE

5364
03:22:38,000 --> 03:22:40,040
ASSISTED STRATEGIES TO DIAGNOSE

5365
03:22:40,040 --> 03:22:42,080
AND TREAT PATIENTS SOONER. THESE

5366
03:22:42,080 --> 03:22:43,440
STRATEGIES ARE FEASIBLE AND THAT

5367
03:22:43,440 --> 03:22:46,920
IS WHAT WE ARE EXPLORING NEXT.

5368
03:22:46,920 --> 03:22:48,880
IF THERE IS ONE TAKE AWAY FROM

5369
03:22:48,880 --> 03:22:52,080
THIS STUDY, IT IS THAT RARE

5370
03:22:52,080 --> 03:22:55,280
DISEASES ARE COMMON COSTLY AND

5371
03:22:55,280 --> 03:22:57,000
ACTIONABLE. WITH THE FUTURE

5372
03:22:57,000 --> 03:22:58,440
DEVELOPMENT AND INCORPORATION OF

5373
03:22:58,440 --> 03:23:00,080
MACHINE LEARNING TOOLS WE MAY BE

5374
03:23:00,080 --> 03:23:02,080
ABLE TO GET TREATMENT TO MORE

5375
03:23:02,080 --> 03:23:04,600
PATIENTS MORE QUICKLY. DISEASE

5376
03:23:04,600 --> 03:23:06,080
MODIFYING TREATMENTS COULD NOT

5377
03:23:06,080 --> 03:23:09,040
ONLY IMPACT THE DEVASTATING

5378
03:23:09,040 --> 03:23:09,640
PROGRESSION OF DISEASE AND

5379
03:23:09,640 --> 03:23:11,800
PROLONGED HIGH COST OF CARE, BUT

5380
03:23:11,800 --> 03:23:13,480
ALSO PRESERVE QUALITY OF LIFE

5381
03:23:13,480 --> 03:23:15,880
AND PRODUCTIVITY BENEFITING NOT

5382
03:23:15,880 --> 03:23:19,480
JUST THE PATIENTS BUT SOCIETY AS

5383
03:23:19,480 --> 03:23:21,880
A WHOLE TO OUR RARE DISEASE

5384
03:23:21,880 --> 03:23:23,360
PATIENTS ADVOCATES AND

5385
03:23:23,360 --> 03:23:24,800
CAREGIVERS LISTENING TODAY, WE

5386
03:23:24,800 --> 03:23:27,520
SEE YOU, WE HEAR YOU. WE HOPE

5387
03:23:27,520 --> 03:23:28,880
OUR INITIATIVES SHINE A LIGHT ON

5388
03:23:28,880 --> 03:23:31,240
THE BURDENS FACED BY YOUR

5389
03:23:31,240 --> 03:23:33,240
COMMUNITY, IN THE DOWNSTREAM

5390
03:23:33,240 --> 03:23:34,720
MATERIAL BENEFITS THAT COME FROM

5391
03:23:34,720 --> 03:23:36,080
ACCURATE DIAGNOSIS AND IMPROVED

5392
03:23:36,080 --> 03:23:41,880
CARE. IF YOU ARE INTERESTED IN

5393
03:23:41,880 --> 03:23:43,000
LEARNING MORE ABOUT PIE WILL THE

5394
03:23:43,000 --> 03:23:44,240
STUDY OR OTHER EFFORTS THAT

5395
03:23:44,240 --> 03:23:45,920
FALLS UNDER THE IDEAS INITIATIVE

5396
03:23:45,920 --> 03:23:47,480
I ENCOURAGE YOU THE CHECK OUT

5397
03:23:47,480 --> 03:23:49,280
IDEAS EXHIBIT ON THE RARE

5398
03:23:49,280 --> 03:23:50,440
DISEASE DAY EVENT APP WHERE YOU

5399
03:23:50,440 --> 03:23:52,920
CAN FINE LINK TO THE PAPER AND I

5400
03:23:52,920 --> 03:23:55,480
OR MY COLLEAGUE CHRISTINE

5401
03:23:55,480 --> 03:23:56,360
PATELLA WILL BE HAPPY TO ANSWER

5402
03:23:56,360 --> 03:23:57,000
ANY OF YOUR QUESTIONS. THANK

5403
03:23:57,000 --> 03:24:08,920
YOU. 

5404
03:24:08,920 --> 03:24:11,400
>> HI, GOOD AFTERNOON. I'M ANNIE

5405
03:24:11,400 --> 03:24:13,000
KENNEDY, CHIEF OF POLICY

5406
03:24:13,000 --> 03:24:15,080
ADVOCACY PATIENT ENGAGEMENT AT

5407
03:24:15,080 --> 03:24:16,320
THE FOUNDATION FOR RARE DISEASES

5408
03:24:16,320 --> 03:24:18,880
AND I'M SO GRATEFUL TO NIH FOR

5409
03:24:18,880 --> 03:24:20,920
INCLUDING ME HERE TODAY AND

5410
03:24:20,920 --> 03:24:21,880
HAPPY RARE DISEASE WEEK

5411
03:24:21,880 --> 03:24:23,400
EVERYBODY. SO I'M DELIGHTED TO

5412
03:24:23,400 --> 03:24:25,280
TALK ABOUT OUR NATIONAL ECONOMIC

5413
03:24:25,280 --> 03:24:26,960
BURDEN OF RARE DISEASE STUDY,

5414
03:24:26,960 --> 03:24:29,000
THAT WE CAN CONDUCTED ALONG WITH

5415
03:24:29,000 --> 03:24:30,080
THE BROAD RARE DISEASE

5416
03:24:30,080 --> 03:24:31,600
COMMUNITY. AND PROBABLY MANY OF

5417
03:24:31,600 --> 03:24:34,080
YOU WHO ARE HERE TODAY. AND I

5418
03:24:34,080 --> 03:24:35,920
LOVE TO PUT THIS IN CONTEXT

5419
03:24:35,920 --> 03:24:37,480
BECAUSE I KNOW WE ARE HEARING

5420
03:24:37,480 --> 03:24:38,440
ABOUT THE DATA THAT WAS

5421
03:24:38,440 --> 03:24:40,120
COLLECTED NOT JUST BY OUR BROAD

5422
03:24:40,120 --> 03:24:41,480
COMMUNITY BUT ALSO BY OUR

5423
03:24:41,480 --> 03:24:44,880
PARTNERS AT NIH. AND RECENTLY WE

5424
03:24:44,880 --> 03:24:47,760
PARTNERED WITH NIH AND SOME

5425
03:24:47,760 --> 03:24:48,800
OTHERS WHO KNIT TOGETHER

5426
03:24:48,800 --> 03:24:50,080
FINDINGS FROM NUMBER OF STUDIES

5427
03:24:50,080 --> 03:24:51,560
SO IT IS REALLY IMPORTANT FOR US

5428
03:24:51,560 --> 03:24:52,920
TO UNDERSTAND WHY DOES ALL THIS

5429
03:24:52,920 --> 03:24:55,360
MATTER ANYWAY. SO WE COLLECT

5430
03:24:55,360 --> 03:24:56,880
THIS DATA FOR NUMBER OF REASONS,

5431
03:24:56,880 --> 03:24:59,520
AND MOST OF US HERE IN THIS ROOM

5432
03:24:59,520 --> 03:25:00,480
AND WATCHING TODAY HAVE BEEN

5433
03:25:00,480 --> 03:25:03,360
PART OF THIS MOVEMENT CALLED

5434
03:25:03,360 --> 03:25:05,640
PATIENT FOCUSED DRUG DEVELOPMENT

5435
03:25:05,640 --> 03:25:06,320
WHICH IN OTHER WORDS MEANS WE

5436
03:25:06,320 --> 03:25:08,680
NEED TO ASSURE THAT OUR LIVED

5437
03:25:08,680 --> 03:25:09,920
EXPERIENCE AS MEMBERS OF THE

5438
03:25:09,920 --> 03:25:12,720
RARE DISEASE COMMUNITY, MATTERS.

5439
03:25:12,720 --> 03:25:14,560
THAT IT IS PART OF INFORMING

5440
03:25:14,560 --> 03:25:17,120
CLINICAL TRIAL DESIGN, COLLECTED

5441
03:25:17,120 --> 03:25:20,120
IN REGISTRIES, IN FORMING

5442
03:25:20,120 --> 03:25:22,480
REGULATORY DECISIONS, AS WE KNOW

5443
03:25:22,480 --> 03:25:24,080
MUCH MUCH OF THIS WORK HAPPEN

5444
03:25:24,080 --> 03:25:30,880
WITH F PDUFA 5 AND PDUFA 6 AND

5445
03:25:30,880 --> 03:25:32,880
NOW 7 RE-AUTHORIZATION OF

5446
03:25:32,880 --> 03:25:35,240
PRESCRIPTION DRUG USER FEE AND

5447
03:25:35,240 --> 03:25:36,640
THOSE DISCUSSIONS UNDERSTAND

5448
03:25:36,640 --> 03:25:38,520
THAT THE WAY THAT PATIENT

5449
03:25:38,520 --> 03:25:40,960
EXPERIENCE DATA IS COLLECTED IN

5450
03:25:40,960 --> 03:25:43,080
THE CLINICAL TRIAL ENTERPRISE IS

5451
03:25:43,080 --> 03:25:46,640
REALLY CENTRAL. AND BREAKING

5452
03:25:46,640 --> 03:25:48,280
THAT DOWN, WHAT THAT MEANS IS

5453
03:25:48,280 --> 03:25:50,520
WHEN FDA MAKES A DECISION ABOUT

5454
03:25:50,520 --> 03:25:52,400
A CLINICAL TRIAL OR APPROVAL,

5455
03:25:52,400 --> 03:25:53,920
THERE IS SOME STATUTORY

5456
03:25:53,920 --> 03:25:55,600
REQUIREMENTS OF WHAT FDA THINKS

5457
03:25:55,600 --> 03:25:58,040
ABOUT AND THE CONTEXT WHICH THEY

5458
03:25:58,040 --> 03:25:59,080
THINK ABOUT THAT PRODUCT. THAT

5459
03:25:59,080 --> 03:26:00,760
HELPS INFORM CLINICAL TRIALS

5460
03:26:00,760 --> 03:26:03,600
THAT WE DO. WITH THAT CONTEXT,

5461
03:26:03,600 --> 03:26:06,600
THE CATEGORIES, IF YOU WILL, ONE

5462
03:26:06,600 --> 03:26:09,600
OF THOSE DISTINCT CATEGORIES

5463
03:26:09,600 --> 03:26:10,880
LISTS BURDEN OF DISEASE AND

5464
03:26:10,880 --> 03:26:14,000
IMPACT ON PATIENTS' DAILY LIVES

5465
03:26:14,000 --> 03:26:17,640
SO BREAKING DOWN FURTHER, TWO

5466
03:26:17,640 --> 03:26:19,640
CATEGORIES THAT ARE RELEVANT TO

5467
03:26:19,640 --> 03:26:23,040
BURDEN OR ECONOMIC IMPACT OF

5468
03:26:23,040 --> 03:26:25,160
RARE DISEASE. GOING BEYOND

5469
03:26:25,160 --> 03:26:25,920
REGULATORY PROOF OF CLINICAL

5470
03:26:25,920 --> 03:26:27,480
TRIALS BECAUSE AT THE END OF THE

5471
03:26:27,480 --> 03:26:29,400
DAY DOESN'T MATTER WHETHER DRUG

5472
03:26:29,400 --> 03:26:32,080
IS APPROVED, WHAT MATTERS IS

5473
03:26:32,080 --> 03:26:33,520
WHETHER OR NOT A PRODUCT CAN

5474
03:26:33,520 --> 03:26:36,080
BENEFIT PATIENTS WHETHER WE CAN

5475
03:26:36,080 --> 03:26:38,080
RECEIVE IT, WE ALSO HAVE LEARNED

5476
03:26:38,080 --> 03:26:41,520
IN THE ACCESS ENVIRONMENT THAT

5477
03:26:41,520 --> 03:26:43,280
PAYERS AND THOSE WITHIN HEALTH

5478
03:26:43,280 --> 03:26:44,560
AUTHORITY AREA, DON'T ALWAYS

5479
03:26:44,560 --> 03:26:47,000
HAVE THE DATA THEY NEED TO MAKE

5480
03:26:47,000 --> 03:26:48,240
DECISIONS ABOUT THE PATIENT

5481
03:26:48,240 --> 03:26:50,280
COMMUNITY LIVED EXPERIENCE. AND

5482
03:26:50,280 --> 03:26:52,840
WE HAVE SEEN THIS TIME AND TIME

5483
03:26:52,840 --> 03:26:55,000
AGAIN IN THOSE DIFFERENT ACCESS

5484
03:26:55,000 --> 03:26:56,480
ENVIRONMENTS.  SO THE TAKE AWAY

5485
03:26:56,480 --> 03:26:59,120
FROM THAT IS THAT THE LIVED

5486
03:26:59,120 --> 03:27:01,080
EXPERIENCE PATIENT COMMUNITIES

5487
03:27:01,080 --> 03:27:03,640
HAS NOT ALWAYS BEEN COLLECTED IN

5488
03:27:03,640 --> 03:27:04,960
THE QUANTIFIABLE WAY TO INFORM

5489
03:27:04,960 --> 03:27:09,280
DECISION MAKING OF THOSE NEEDED.

5490
03:27:09,280 --> 03:27:10,520
SO THERE IS REAL HOLES IN WHAT

5491
03:27:10,520 --> 03:27:12,040
WE KNOW. WHAT ARE OUT OF POCKET

5492
03:27:12,040 --> 03:27:13,880
COSTS TO PATIENTS, NOT JUST COST

5493
03:27:13,880 --> 03:27:16,280
WE SEE IN DIRECT COST DATA,S

5494
03:27:16,280 --> 03:27:17,640
WHAT ARE THE MODIFICATIONS THAT

5495
03:27:17,640 --> 03:27:20,040
WE ARE PAYING FOR TO OUR

5496
03:27:20,040 --> 03:27:21,480
VEHICLES OR HOME, WHAT ARE THOSE

5497
03:27:21,480 --> 03:27:22,920
CAREGIVER COSTSNA ARE BEING PAID

5498
03:27:22,920 --> 03:27:26,000
FOR OUT OF POCKET, WHAT ARE THE

5499
03:27:26,000 --> 03:27:27,360
WHAT ARE CALLED PRODUCTIVITY

5500
03:27:27,360 --> 03:27:28,800
LOSSES? WHAT ARE THE COSTS

5501
03:27:28,800 --> 03:27:30,040
INCURRED BECAUSE OF FAMILY

5502
03:27:30,040 --> 03:27:32,080
MEMBER BECOMES A CAREGIVER OR

5503
03:27:32,080 --> 03:27:33,360
DOESN'T WORK FULL TIME BECAUSE

5504
03:27:33,360 --> 03:27:34,880
YOU YOURSELF ARE DIAGNOSED OR

5505
03:27:34,880 --> 03:27:37,560
LOVED ONE IS DIAGNOSED. THAT IS

5506
03:27:37,560 --> 03:27:39,040
WHY WE NEED THIS DATA. WE HAVE

5507
03:27:39,040 --> 03:27:40,680
TO HAVE THIS DATA SO THAT IT IS

5508
03:27:40,680 --> 03:27:45,120
PART OF THE EQUATION. SO WE SET

5509
03:27:45,120 --> 03:27:46,880
OUT TO CONDUCT ONE OF THE FIRST

5510
03:27:46,880 --> 03:27:49,480
LARGEST STUDIES OF ITS KIND TO

5511
03:27:49,480 --> 03:27:50,840
MOVE FROM THOSE BACK OF THE

5512
03:27:50,840 --> 03:27:53,840
ENVELOPE CALCULATIONS OR LIVED

5513
03:27:53,840 --> 03:27:55,280
EXPERIENCE WE ALL KNOW, WE ALL

5514
03:27:55,280 --> 03:27:57,240
KNOW WHAT IT COSTS OR WHAT THE

5515
03:27:57,240 --> 03:27:58,880
IMPACT IS TO BE SOMEONE LIVING

5516
03:27:58,880 --> 03:28:01,040
WITH RARE DISEASE BUT WE NEED

5517
03:28:01,040 --> 03:28:01,760
REAL DATA AROUND THAT.

5518
03:28:01,760 --> 03:28:03,960
SO WE PARTNER WITH THE BROAD

5519
03:28:03,960 --> 03:28:05,440
RARE DISEASE COMMUNITY TO

5520
03:28:05,440 --> 03:28:06,880
COLLECT DATA AND LOOK AT WHAT

5521
03:28:06,880 --> 03:28:08,600
THE ECONOMIC IMPACT OF RARE

5522
03:28:08,600 --> 03:28:09,720
DISEASE WAS AND WE DID IT

5523
03:28:09,720 --> 03:28:11,560
LOOKING AT THREE COST

5524
03:28:11,560 --> 03:28:13,640
CATEGORIES. DIRECT MEDICAL COSTS

5525
03:28:13,640 --> 03:28:15,440
WHICH YOU HAVE ALREADY HEARD

5526
03:28:15,440 --> 03:28:17,160
ABOUT BECAUSE NIH DATA LOOKED AT

5527
03:28:17,160 --> 03:28:19,160
DIRECT MEDICAL COSTS SO THOSE

5528
03:28:19,160 --> 03:28:22,000
COSTS REFLECTED IN YOUR MEDICAL

5529
03:28:22,000 --> 03:28:23,920
EXPENSES THAT YOU SEE COME BACK

5530
03:28:23,920 --> 03:28:25,720
ON YOUR EXPLANATIONS OF BENEFIT,

5531
03:28:25,720 --> 03:28:28,000
PHYSICIAN VISITS, ER VISITS, IN

5532
03:28:28,000 --> 03:28:30,800
PATIENT AND OUTPATIENT CARE. WE

5533
03:28:30,800 --> 03:28:33,360
ALSO LOOK AT THE INDIRECT COSTS.

5534
03:28:33,360 --> 03:28:34,680
WHAT DOES IT COST WHEN YOU ARE

5535
03:28:34,680 --> 03:28:37,280
NO LONGER WORKING FULL TIME OR

5536
03:28:37,280 --> 03:28:39,200
WORKING PART TIME? WHAT DOES IT

5537
03:28:39,200 --> 03:28:41,280
COST WHEN YOU HAVE TO LEAVE

5538
03:28:41,280 --> 03:28:42,560
EMPLOYMENT EARLY WHICH WE REFER

5539
03:28:42,560 --> 03:28:44,280
TO AS FORCED RETIREMENT, NOT

5540
03:28:44,280 --> 03:28:46,120
REALLY RETIREMENT -- EARLY

5541
03:28:46,120 --> 03:28:49,560
RETIREMENT AND WHAT ARE THE

5542
03:28:49,560 --> 03:28:50,880
COSTS NOT PARTICIPATING IN

5543
03:28:50,880 --> 03:28:53,600
SOCIETY, THE WAY YOU WOULD WANT

5544
03:28:53,600 --> 03:28:55,400
TO. ALSO VERY IMPORTANTLY THOSE

5545
03:28:55,400 --> 03:28:56,920
COSTS THAT I TALKED ABOUT THE

5546
03:28:56,920 --> 03:28:58,280
NON-MEDICAL COSTS. SO THINGS

5547
03:28:58,280 --> 03:29:01,760
THAT MAY BE PRESCRIBED THAT ARE

5548
03:29:01,760 --> 03:29:02,600
NOT COVERED BY INSURANCE. WHAT

5549
03:29:02,600 --> 03:29:06,480
ARE THE MODIFICATIONS NEEDED IN

5550
03:29:06,480 --> 03:29:08,800
ORDER TO LIVE IN HOME OR TRAVEL

5551
03:29:08,800 --> 03:29:10,880
PLACE TO PLACE. OUT OF POCKET

5552
03:29:10,880 --> 03:29:12,680
CARE COSTS, ET CETERA.  WHEN WE

5553
03:29:12,680 --> 03:29:15,880
QUANTIFY THOSE COSTS, WE WORKED

5554
03:29:15,880 --> 03:29:17,240
WITH THE BROAD COMMUNITY TO

5555
03:29:17,240 --> 03:29:21,840
DEVELOP A SURVEY, WE DISSEMI

5556
03:29:21,840 --> 03:29:24,840
DISSEMINATED THAT THROUGH HOUR

5557
03:29:24,840 --> 03:29:27,720
CON CONSERVATIVETORY PATHWAY

5558
03:29:27,720 --> 03:29:29,200
SPONSORS AND WORKPLACE RESPONSE.

5559
03:29:29,200 --> 03:29:30,400
WE ASKED THE COMMUNITY TO

5560
03:29:30,400 --> 03:29:33,000
REFLECT ON 2019 EXPENDITURES AND

5561
03:29:33,000 --> 03:29:37,600
WE HAD RESPONDENTS, OVER 1,400

5562
03:29:37,600 --> 03:29:41,800
RESPONDENTS, WHO REPORTED LIVING

5563
03:29:41,800 --> 03:29:45,360
WITH 379 RARE DISEASE. SO OUR

5564
03:29:45,360 --> 03:29:47,280
DATA REFLECT 379 RARE DISEASE,

5565
03:29:47,280 --> 03:29:51,880
WE CAN REMEMBER ESTIMATED

5566
03:29:51,880 --> 03:29:53,520
BETWEEN 710,000 RARE DISEASE. 

5567
03:29:53,520 --> 03:29:55,520
REFLECTING ON 379 RARE DISEASE,

5568
03:29:55,520 --> 03:29:57,280
WITH A PREVALENCE OF

5569
03:29:57,280 --> 03:30:03,800
15.5 MILLION. THIS MEANS OF 379

5570
03:30:03,800 --> 03:30:06,120
RARE DISEASE, PREVALENCE OF

5571
03:30:06,120 --> 03:30:09,560
15.5 MILLION AMERICANS AND IN

5572
03:30:09,560 --> 03:30:11,640
2019, 379 RARE DISEASE HAD AN

5573
03:30:11,640 --> 03:30:16,560
ECONOMIC IMPACT OF $966 BILLION

5574
03:30:16,560 --> 03:30:19,360
CLOSE TO A TRILLION DOLLARS.

5575
03:30:19,360 --> 03:30:21,120
WHAT WE FOUND THAT IS REALLY

5576
03:30:21,120 --> 03:30:24,400
IMPORTANT, THOSE COSTS THE COST

5577
03:30:24,400 --> 03:30:27,800
DRIVERS WERE 60% INDIRECT AND

5578
03:30:27,800 --> 03:30:29,600
NON-MEDICAL COSTS.  MEANING THAT

5579
03:30:29,600 --> 03:30:33,080
OF THOSE COSTS, 40% WERE THOSE

5580
03:30:33,080 --> 03:30:35,400
DIRECT MEDAKA COSTS. THE

5581
03:30:35,400 --> 03:30:37,480
HOSPITAL BILLS, INPATIENT

5582
03:30:37,480 --> 03:30:39,360
OUTPATIENT VISITS, ET CETERA.

5583
03:30:39,360 --> 03:30:44,200
BUT 60% OF THOSE COSTS ARE COSTS

5584
03:30:44,200 --> 03:30:45,440
ABSORBED OUTS OF THE POCKET BY

5585
03:30:45,440 --> 03:30:46,920
FAMILIES AND NOT COVERED

5586
03:30:46,920 --> 03:30:47,560
ELSEWHERE IN OUR HEALTHCARE

5587
03:30:47,560 --> 03:30:50,280
SYSTEM. THAT IS INC ABLY

5588
03:30:50,280 --> 03:30:51,320
IMPORTANT DATA NOW FOR ANYONE IN

5589
03:30:51,320 --> 03:30:52,680
THE RARE DISEASE COMMUNITY, THAT

5590
03:30:52,680 --> 03:30:55,080
IS NOT SURPRISING.  BUT SHOULD

5591
03:30:55,080 --> 03:31:03,680
BE STAGGERING NUMBER FOR THE

5592
03:31:03,680 --> 03:31:05,120
PUBLIC. WE HAVE OTHER DATA

5593
03:31:05,120 --> 03:31:06,400
AVAILABLE AND I WON'T GO THROUGH

5594
03:31:06,400 --> 03:31:08,080
IT MANY IT'S ON THE WEBSITE AND

5595
03:31:08,080 --> 03:31:09,560
PUBLICATIONS BUT I WANT TO

5596
03:31:09,560 --> 03:31:10,800
HIGHLIGHT IN THE DIRECT MEDICAL

5597
03:31:10,800 --> 03:31:12,960
COST DATA THAT 40 PERKS THE COST

5598
03:31:12,960 --> 03:31:14,000
DRIVERS WERE NOT SOME OF THE

5599
03:31:14,000 --> 03:31:18,960
COST DRIVERS WE SPENT TIME

5600
03:31:18,960 --> 03:31:20,440
TALKING ABOUT, THEY WERE

5601
03:31:20,440 --> 03:31:21,680
INPATIENT EXPENSES OUTPATIENT

5602
03:31:21,680 --> 03:31:23,400
EXPENSES. THINGS THAT PROBABLY

5603
03:31:23,400 --> 03:31:25,200
COULD BE REDUCED IF WE REDUCE

5604
03:31:25,200 --> 03:31:27,200
AND STREAMLINE PROCESSES LIKE

5605
03:31:27,200 --> 03:31:30,040
DIAGNOSTIC ODYSSEY, IF WE HAD

5606
03:31:30,040 --> 03:31:31,760
BETTER TREATMENT INTERVENTIONS

5607
03:31:31,760 --> 03:31:34,880
EARLIER, MITIGATED SYMPTOMS OF

5608
03:31:34,880 --> 03:31:35,720
OUR DISEASE

5609
03:31:35,720 --> 03:31:37,200
A. SO HERE IS PICTURE OF WHAT WE

5610
03:31:37,200 --> 03:31:39,120
EXPERIENCE IN RARE DISEASE

5611
03:31:39,120 --> 03:31:40,760
COMMUNITY, WE BELIEVE THAT THERE

5612
03:31:40,760 --> 03:31:42,240
ARE LOW HANGING FRUIT WHEN IT

5613
03:31:42,240 --> 03:31:44,760
COMES TO POLICY CHANGE. AND WE

5614
03:31:44,760 --> 03:31:47,560
KNOW THAT RARE IS NOT RARE. AND

5615
03:31:47,560 --> 03:31:55,440
THIS DATA UNDERSCORES THE FACT

5616
03:31:55,440 --> 03:31:56,840
WE HAVE A PUBLIC HEALTH CRISIS

5617
03:31:56,840 --> 03:31:58,080
OF RARE DISEASE IN THE U.S. AND

5618
03:31:58,080 --> 03:31:59,640
IT DESERVES RESOURCES THAT MATCH

5619
03:31:59,640 --> 03:32:01,120
THE PUBLIC HEALTH URGENCY LIVING

5620
03:32:01,120 --> 03:32:02,480
WITH RARE DISEASE. SO THANK YOU.

5621
03:32:02,480 --> 03:32:04,480
WE ARE REALLY LOOKING TO SHIFT

5622
03:32:04,480 --> 03:32:06,120
THE CONVERSATION AND THE PUBLIC

5623
03:32:06,120 --> 03:32:09,040
HEALTH DIALOGUE AROUND RARE

5624
03:32:09,040 --> 03:32:13,000
DISEASE. BECAUSE AGAIN RARE IS

5625
03:32:13,000 --> 03:32:14,480
NOT RARE. THANK YOU THE PARTNERS

5626
03:32:14,480 --> 03:32:15,880
AND BROAD COMMUNITY WHO HELPED

5627
03:32:15,880 --> 03:32:17,320
MAKE THIS STUDY POSSIBLE. 

5628
03:32:17,320 --> 03:32:18,080
WITHOUT EVERY MEMBER OF THE

5629
03:32:18,080 --> 03:32:20,120
COMMUNITY WHO PARTICIPATED IN

5630
03:32:20,120 --> 03:32:21,280
SURVEY AND ORGANIZATION HELP

5631
03:32:21,280 --> 03:32:22,640
CREATE IT, WE COULDN'T HAVE DONE

5632
03:32:22,640 --> 03:32:37,280
THIS. THANK YOU.  

5633
03:32:37,280 --> 03:32:39,880
>> MISNAME IS ERIC SID, OFFICER

5634
03:32:39,880 --> 03:32:41,320
AT THE NATIONAL CENTER FOR

5635
03:32:41,320 --> 03:32:42,640
ADVANCING TRANSLATIONAL SCIENCES

5636
03:32:42,640 --> 03:32:44,080
OR NCATS AT NATIONAL INSTITUTES

5637
03:32:44,080 --> 03:32:46,400
OF HEALTH. I'M HERE TO TO TALK

5638
03:32:46,400 --> 03:32:47,960
TALK ABOUT GENETIC AND RARE

5639
03:32:47,960 --> 03:32:49,320
DISEASES OAR GUARD INFORMATION

5640
03:32:49,320 --> 03:32:50,280
CENTER AND PROVIDES UPDATES

5641
03:32:50,280 --> 03:32:55,880
ABOUT THAT PROGRAM. OUR APPROACH

5642
03:32:55,880 --> 03:32:57,840
TO RESEARCH IS FIND

5643
03:32:57,840 --> 03:32:58,600
GENERALIZABLE SOLUTIONS

5644
03:32:58,600 --> 03:32:59,640
TARGETING MANY RARE DISEASE.

5645
03:32:59,640 --> 03:33:01,480
PATIENTS WITH RARE DISEASE

5646
03:33:01,480 --> 03:33:02,760
OFTENTIMES FACE COMMON

5647
03:33:02,760 --> 03:33:06,520
CHALLENGES LACK OF TREATMENT,

5648
03:33:06,520 --> 03:33:07,320
LONG DIAGNOSTIC ODYSSEY, WE WILL

5649
03:33:07,320 --> 03:33:08,680
HAVE A SESSION AT THE END OF

5650
03:33:08,680 --> 03:33:10,760
TODAY SO STICK AROUND FOR

5651
03:33:10,760 --> 03:33:12,320
THROUGHOUT THE ENTIRE EVENT AND

5652
03:33:12,320 --> 03:33:14,680
THEN FINDING RELIABLE ON LINE

5653
03:33:14,680 --> 03:33:17,240
INFORMATION IS PARTICULARLY A

5654
03:33:17,240 --> 03:33:19,200
CHALLENGE. GUARD HAS BEEN AROUND

5655
03:33:19,200 --> 03:33:20,160
SINCE THE RARE DISEASE ACT OF

5656
03:33:20,160 --> 03:33:22,000
2002 AND IS PUBLIC HEALTH

5657
03:33:22,000 --> 03:33:23,560
RESOURCE ESTABLISHED TO SUPPORT

5658
03:33:23,560 --> 03:33:26,120
PATIENTS CAREGIVERS AND THEIR

5659
03:33:26,120 --> 03:33:27,280
FAMILIES WITH UNDERSTANDABLE

5660
03:33:27,280 --> 03:33:28,920
INFORMATION ABOUT RARE DISEASE.

5661
03:33:28,920 --> 03:33:34,160
YOU CAN REACH GUARD AT

5662
03:33:34,160 --> 03:33:34,800
RAREDISEASES.INFO.NIH.GOV. THIS

5663
03:33:34,800 --> 03:33:36,120
CHALLENGE OF FINDING RELIABLE

5664
03:33:36,120 --> 03:33:37,800
INFORMATION IS NOT UNIQUE TO

5665
03:33:37,800 --> 03:33:39,280
RARE DISEASE ALONE. OUR

5666
03:33:39,280 --> 03:33:41,920
COLLEAGUES AT THE NATIONAL

5667
03:33:41,920 --> 03:33:43,880
INSTITUTES OF CANCER,

5668
03:33:43,880 --> 03:33:45,200
COMPLIMENTARY AL -- INTEGRATIVE

5669
03:33:45,200 --> 03:33:46,760
HEALTH AS WELL AS AGING HAVE

5670
03:33:46,760 --> 03:33:49,760
SIMILAR RESOURCES DEDICATED TO

5671
03:33:49,760 --> 03:33:51,080
HELPING PATIENTS FIND RELIABLE

5672
03:33:51,080 --> 03:33:53,480
INFORMATION.  TO CHALLENGE THAT

5673
03:33:53,480 --> 03:33:57,880
WE FACE WITHIN RARE DISEASE IS

5674
03:33:57,880 --> 03:33:59,360
THE RESEARCH EVIDENCE. IT IS

5675
03:33:59,360 --> 03:34:02,440
CONSTANTLY GROWING. WE SEE OVER

5676
03:34:02,440 --> 03:34:05,040
900,000 PUBLICATIONS NEW

5677
03:34:05,040 --> 03:34:06,600
PUBLICATION EVERY YEAR NATIONAL

5678
03:34:06,600 --> 03:34:07,680
LIBRARY OF MEDICINE. OUR

5679
03:34:07,680 --> 03:34:09,520
CHALLENGE IS MAINTAINING

5680
03:34:09,520 --> 03:34:10,520
INFORMATION ON THOUSANDS OF RARE

5681
03:34:10,520 --> 03:34:11,880
DISEASE ACROSS HUNDREDS OF

5682
03:34:11,880 --> 03:34:13,400
THOUSANDS OF PUBLICATIONS,

5683
03:34:13,400 --> 03:34:14,760
THOUSANDS OF JOURNALS AND

5684
03:34:14,760 --> 03:34:17,480
THOUSANDS OF RESEARCHERS.  SO

5685
03:34:17,480 --> 03:34:19,680
ONE OF THE QUESTIONS WE HAD FOR

5686
03:34:19,680 --> 03:34:20,880
OURSELF, CAN WE LEVERAGE

5687
03:34:20,880 --> 03:34:22,360
EXISTING COLLECTION OF DATA ON

5688
03:34:22,360 --> 03:34:27,960
RARE DISEASE TO HELP IMPROVE ACT

5689
03:34:27,960 --> 03:34:29,000
SEMIRATE TO DELIVER INFORMATION

5690
03:34:29,000 --> 03:34:30,600
TO PATIENTS AND CAREGIVERS ABOUT

5691
03:34:30,600 --> 03:34:34,600
RARE DISEASE.  THINKING ABOUT

5692
03:34:34,600 --> 03:34:35,800
LEVERAGING EXISTING DATA FOR

5693
03:34:35,800 --> 03:34:37,280
PUBLIC HEALTH WE LOOKED WITH A

5694
03:34:37,280 --> 03:34:41,000
FOCUS ON DATA THAT IS FAIR. 

5695
03:34:41,000 --> 03:34:42,360
FINDABLE ACCESSIBLE

5696
03:34:42,360 --> 03:34:43,600
INTEROPERABLE REUSABLE. IN

5697
03:34:43,600 --> 03:34:45,480
PARTICULAR FOCUSED ON VERGE

5698
03:34:45,480 --> 03:34:47,360
DATABASES THAT EXIST BOTH AT THE

5699
03:34:47,360 --> 03:34:50,480
NIH AS WELL AS WITHIN EU AT

5700
03:34:50,480 --> 03:34:52,880
ORPHAN NET AND SOME RESEARCH

5701
03:34:52,880 --> 03:34:54,880
COLLEAGUES AT MONARCH

5702
03:34:54,880 --> 03:34:57,080
INITIATIVES DISEASE ON TOLL AND

5703
03:34:57,080 --> 03:34:58,360
MENDELIAN DATABASES.  WHAT WE

5704
03:34:58,360 --> 03:35:01,200
TRIED TO DO IS WE TRIED TO

5705
03:35:01,200 --> 03:35:02,760
EXTRACT AND INFER KNOWLEDGE FROM

5706
03:35:02,760 --> 03:35:05,000
DIFFERENT DATA SOURCES, SYMPTOMS

5707
03:35:05,000 --> 03:35:07,360
OF DISEASE, EPIDEMIOLOGY RATES,

5708
03:35:07,360 --> 03:35:09,200
CAUSAL GENES, OTHER INFORMATION,

5709
03:35:09,200 --> 03:35:11,440
WE TRY TO ORGANIZE THAT ALL

5710
03:35:11,440 --> 03:35:13,080
TOGETHER AND BASICALLY THAT

5711
03:35:13,080 --> 03:35:17,080
WOULD BE WAY FOR US TO CREATE

5712
03:35:17,080 --> 03:35:17,720
THIS INFORMATION LEVERAGING THE

5713
03:35:17,720 --> 03:35:18,480
WORK THAT NOT JUST RESEARCHERS

5714
03:35:18,480 --> 03:35:20,960
ARE DOING BUT FIELD AS A RARE

5715
03:35:20,960 --> 03:35:28,600
DISEASE RESEARCH AS A WHOLE HAS.

5716
03:35:28,600 --> 03:35:32,240
WE WANT TO FOCUS ON 1/2 NAVIGATE

5717
03:35:32,240 --> 03:35:33,320
DATA BACK TO THAT PARTICULAR

5718
03:35:33,320 --> 03:35:37,360
JOURNEY. HERE ARE YOURNAL MAPS

5719
03:35:37,360 --> 03:35:39,480
AS WELL AS COLLEAGUES IN THE

5720
03:35:39,480 --> 03:35:40,480
EUROPEAN EUROPEAN UNION AND THE

5721
03:35:40,480 --> 03:35:42,960
THINGS THEY SHOW IN COMMON IS

5722
03:35:42,960 --> 03:35:44,160
THAT OFTEN TIMES AFTER PATIENT

5723
03:35:44,160 --> 03:35:47,480
FIRST STARTS TO HAVE INITIAL

5724
03:35:47,480 --> 03:35:48,640
SYMPTOMS WE SEEK CARE WITH THEIR

5725
03:35:48,640 --> 03:35:50,880
PRIMARY CARE PROVIDERS NEXT STEP

5726
03:35:50,880 --> 03:35:52,960
IS TO GO DOEN LION RESEARCH AND

5727
03:35:52,960 --> 03:35:55,560
TYPICALLY NEXT STEP FROM THERE

5728
03:35:55,560 --> 03:36:05,680
IS TO LOOK AND FIND SPECIALIST

5729
03:36:05,680 --> 03:36:08,560
WE BUILT OUT A BETA WEBSITE THAT

5730
03:36:08,560 --> 03:36:09,800
LEVERAGE IT IS DATA, YOU CAN

5731
03:36:09,800 --> 03:36:15,600
REACH AT BETA.RARE DATA

5732
03:36:15,600 --> 03:36:17,080
DISEASES.INFO.NIH.GOV. WE TRY TO

5733
03:36:17,080 --> 03:36:20,200
FOCUS WHO TO REUSE THIS EXISTING

5734
03:36:20,200 --> 03:36:21,200
DATA AND INTERPRETING FOR

5735
03:36:21,200 --> 03:36:23,720
PATIENTS TO USE.  SO ON HERE YOU

5736
03:36:23,720 --> 03:36:25,080
WILL SEE SOME PREVIEW OF HOW WE

5737
03:36:25,080 --> 03:36:26,640
ARE TRYING TO PULL IN SOME OF

5738
03:36:26,640 --> 03:36:30,400
THE EXISTING INFORMATION ON

5739
03:36:30,400 --> 03:36:32,080
SYMPTOMS AGE OF ONSET OF DISEASE

5740
03:36:32,080 --> 03:36:34,080
AND TRYING TO UNDERSTAND CAN WE

5741
03:36:34,080 --> 03:36:36,880
PUT IT IN A FORMAT PATIENTS CAN

5742
03:36:36,880 --> 03:36:38,800
MAKE USE OUT OF. AS AN EXAMPLE

5743
03:36:38,800 --> 03:36:39,920
ONE OF THE QUESTIONS THAT I WAS

5744
03:36:39,920 --> 03:36:41,680
EXPRESSING EARLIER THAT PATIENTS

5745
03:36:41,680 --> 03:36:43,720
ARE VITAL TO PATIENT JOURNEY IS

5746
03:36:43,720 --> 03:36:46,400
THAT FIRST VISIT TO SPECIALIST.

5747
03:36:46,400 --> 03:36:47,960
WHAT WE ARE TRYING TO DO IS FIND

5748
03:36:47,960 --> 03:36:50,680
WAYS TO PULL FROM THAT DATA ALL

5749
03:36:50,680 --> 03:36:51,880
THAT INFORMATION, OTHER STUFF

5750
03:36:51,880 --> 03:36:53,720
COLLECTED AND TRY TO UNDERSTAND

5751
03:36:53,720 --> 03:36:55,080
WHICH DISEASES DO YOU NEED TO

5752
03:36:55,080 --> 03:36:56,440
SEE SOMEONE LIKE A SPECIALIST. 

5753
03:36:56,440 --> 03:36:58,680
AND PART OF OUR QUESTION IS HOW

5754
03:36:58,680 --> 03:36:59,880
DO WE THEN BRING THAT

5755
03:36:59,880 --> 03:37:01,120
INFORMATION TO WEBSITE USERS

5756
03:37:01,120 --> 03:37:02,600
THAT ARE RARE DISEASE PATIENTS

5757
03:37:02,600 --> 03:37:04,720
AND CAREGIVERS, IN A WAY THAT'S

5758
03:37:04,720 --> 03:37:05,960
ACTIONABLE AS WELL AS FITS THEIR

5759
03:37:05,960 --> 03:37:07,680
NEEDS.  SO FOR EXAMPLE, IF THEY

5760
03:37:07,680 --> 03:37:09,480
HAVE TO GET A GENETIC TEST, CAN

5761
03:37:09,480 --> 03:37:11,320
WE EXPLAIN TO THEM WHAT EXACTLY

5762
03:37:11,320 --> 03:37:13,560
IS GENETIC TEST AND WHERE THEY

5763
03:37:13,560 --> 03:37:17,560
CAN GO SEEK GENETIC TESTING.  

5764
03:37:17,560 --> 03:37:19,400
OUR NEXT STEPS WITH THIS WEBSITE

5765
03:37:19,400 --> 03:37:21,840
ARE TO START TAILORING IT TO FIT

5766
03:37:21,840 --> 03:37:23,400
WEBSITE USER NEEDS FOR PATIENTS

5767
03:37:23,400 --> 03:37:25,680
AND CAREGIVERS. SO FOR EXAMPLE,

5768
03:37:25,680 --> 03:37:27,280
ONE OF THE THINGS THAT WE HAVE

5769
03:37:27,280 --> 03:37:29,400
STARTED TO UNDERSTAND AND TRY TO

5770
03:37:29,400 --> 03:37:31,400
BUILD OUT IS FUNCTIONS NEEDED TO

5771
03:37:31,400 --> 03:37:32,520
SEARCH AND FILTER FOR RARE

5772
03:37:32,520 --> 03:37:34,280
DISEASE. DO WE DO IT

5773
03:37:34,280 --> 03:37:35,880
ALPHABETICALLY, BY CERTAIN

5774
03:37:35,880 --> 03:37:36,840
CATEGORIES, ARE THERE OTHER

5775
03:37:36,840 --> 03:37:40,600
TYPES OF QUESTIONS THAT

5776
03:37:40,600 --> 03:37:41,840
CAREGIVER MIGHT BE ASKING WE CAN

5777
03:37:41,840 --> 03:37:45,400
USE TO THEN HELP MAKE EASIER FOR

5778
03:37:45,400 --> 03:37:49,000
THEM TO FIND OUR DISEASE PAGES. 

5779
03:37:49,000 --> 03:37:51,240
TO DO THAT IN ORDER TO TAILOR

5780
03:37:51,240 --> 03:37:53,880
NEXT VERSION OF GUARD, 2.0 FOR

5781
03:37:53,880 --> 03:37:55,360
PATIENTS AND CAREGIVERS WE NEED

5782
03:37:55,360 --> 03:37:58,560
YOUR HELP. PLEASE VISIT THE BETA

5783
03:37:58,560 --> 03:38:00,120
SITE AND PROVIDE FEEDBACK, AT

5784
03:38:00,120 --> 03:38:01,640
THE TOP YOU SEE A LINK TO THE

5785
03:38:01,640 --> 03:38:03,400
FEEDBACK FORM AND IF YOU ARE

5786
03:38:03,400 --> 03:38:04,800
PARTICULARLY INTERESTED IN

5787
03:38:04,800 --> 03:38:06,480
VOLUNTEERING FOR USER TESTING

5788
03:38:06,480 --> 03:38:12,280
WE'D LOVE TO HAVE YOUR SUPPORT

5789
03:38:12,280 --> 03:38:13,480
ORDR@NIH.GOV AND IN THE SUBJECT

5790
03:38:13,480 --> 03:38:15,600
LINE WRITE INTERESTED IN USER

5791
03:38:15,600 --> 03:38:17,960
TESTING. THANK YOU. I JUST

5792
03:38:17,960 --> 03:38:20,480
WANTED TO HIGHLIGHT AGAIN THAT

5793
03:38:20,480 --> 03:38:22,480
WHAT WE ARE TRYING TO DO AT

5794
03:38:22,480 --> 03:38:23,520
NCATS IS HELP CREATE SOLUTIONS

5795
03:38:23,520 --> 03:38:26,880
THAT CAN APPLY ACROSS MANY

5796
03:38:26,880 --> 03:38:27,880
DIFFERENT PROBLEMS IN THIS CASE

5797
03:38:27,880 --> 03:38:30,160
LOOK AT ALL DIFFERENT WAYS THAT

5798
03:38:30,160 --> 03:38:31,360
PATIENTS WITH RARE DISEASE ARE

5799
03:38:31,360 --> 03:38:33,240
LOOKING FOR INFORMATION ONLINE.

5800
03:38:33,240 --> 03:38:35,160
THANK YOU FOR THAT. ENJOY THE

5801
03:38:35,160 --> 03:38:37,160
REST OF TODAY AND LOOK OUT FOR

5802
03:38:37,160 --> 03:38:40,080
OUR LATER SESSION ON THE

5803
03:38:40,080 --> 03:38:41,520
DIAGNOSTICS ODYSSEY WHERE WE CAN

5804
03:38:41,520 --> 03:38:42,200
TALK AGAIN IN A LITTLE BIT.

5805
03:38:42,200 --> 03:38:54,200
THANK YOU. 

5806
03:38:54,200 --> 03:38:59,280
>> HELLO. WELCOME TO SESSION 3.

5807
03:38:59,280 --> 03:39:00,680
SUCCESSFUL CLINICAL TRIAL

5808
03:39:00,680 --> 03:39:04,200
ENROLLMENT WITH TRUE ADVOCACY

5809
03:39:04,200 --> 03:39:05,280
COLLABORATION DURING CHALLENGING

5810
03:39:05,280 --> 03:39:12,160
TIMES.  MY NAME IS SANJAY,

5811
03:39:12,160 --> 03:39:13,400
SENIOR DIRECTOR HEAD OF PATIENT

5812
03:39:13,400 --> 03:39:18,640
SERVICES AT UBC. TODAY I HAVE

5813
03:39:18,640 --> 03:39:20,120
THE ON NOR OF MODERATING THIS

5814
03:39:20,120 --> 03:39:22,720
SESSION. THIS IS TOPIC AND

5815
03:39:22,720 --> 03:39:25,360
ESPECIALLY EXITEDDED ABOUT AS I

5816
03:39:25,360 --> 03:39:29,280
HAD THE LUXURY OF BEING A BRIDGE

5817
03:39:29,280 --> 03:39:30,680
BETWEEN INDUSTRY AND ADVOCACY

5818
03:39:30,680 --> 03:39:33,360
WITH A SPECIAL CONCENTRATION IN

5819
03:39:33,360 --> 03:39:36,320
A RARE DISEASE FOR QUITE SOME

5820
03:39:36,320 --> 03:39:39,960
TIME. I'M SO PLEASED TO HAVE DR.

5821
03:39:39,960 --> 03:39:44,880
SAN SAY SHUKLA, PRESIDENT AND

5822
03:39:44,880 --> 03:39:51,480
CEO AT ATYR PHARMA, TRICHA

5823
03:39:51,480 --> 03:39:53,840
SHIVAS, CHIEF STRATEGY OFFICER

5824
03:39:53,840 --> 03:39:55,480
AT FOUNDATION OF SARCOIDOSIS

5825
03:39:55,480 --> 03:39:59,920
RESEARCH FSR AND ERIKA COURTENAY

5826
03:39:59,920 --> 03:40:01,120
COURTENAY-MANN, MEMBER OF THE

5827
03:40:01,120 --> 03:40:05,160
FSR WOMAN OF COLOR PATIENT

5828
03:40:05,160 --> 03:40:06,480
ADVISORY COMMITTEE. BEFORE WE

5829
03:40:06,480 --> 03:40:09,480
GET STARTED WITH THE DISCUSSION,

5830
03:40:09,480 --> 03:40:15,200
I LIKE TO TOUCH ON REMINDERS

5831
03:40:15,200 --> 03:40:20,360
WHERE WE ARE IN THE RARE DISEASE

5832
03:40:20,360 --> 03:40:21,720
LANDSCAPE, THAT TOUCH ON THE

5833
03:40:21,720 --> 03:40:25,560
TONE WHY IT IS SO IMPORTANT FOR

5834
03:40:25,560 --> 03:40:29,640
ADVOCACY AND INDUSTRY TO WORK

5835
03:40:29,640 --> 03:40:32,360
TOGETHER. RARE DISEASE CLINICAL

5836
03:40:32,360 --> 03:40:36,000
TRIALS ARE HARD TO START AND

5837
03:40:36,000 --> 03:40:38,680
ENROLL, RELATIONSHIPS WITH

5838
03:40:38,680 --> 03:40:41,560
ADVOCACY ORGANIZATIONS CAN MAKE

5839
03:40:41,560 --> 03:40:43,840
OR BREAK WHETHER CLINICAL TRIALS

5840
03:40:43,840 --> 03:40:49,280
IS SUCCESSFUL. WE NEED TO

5841
03:40:49,280 --> 03:40:52,320
UNDERSTAND WHERE PATIENTS ARE IN

5842
03:40:52,320 --> 03:40:53,800
ORDER TO SUCCESSFULLY RUN

5843
03:40:53,800 --> 03:40:56,080
CLINICAL TRIALS IN THE RARE

5844
03:40:56,080 --> 03:41:01,240
DISEASE SPACE. WE NEED TO THINK

5845
03:41:01,240 --> 03:41:01,920
CRITICALLY IN TRIAL

5846
03:41:01,920 --> 03:41:06,080
IMPLEMENTATION TO ALLOW FOR

5847
03:41:06,080 --> 03:41:10,320
DIVERSE PARTICIPATION. WE ALL

5848
03:41:10,320 --> 03:41:14,000
KNOW THERE ARE 7,000 PLUS RARE

5849
03:41:14,000 --> 03:41:15,880
DISEASE AND PATIENTS EXPERIENCE

5850
03:41:15,880 --> 03:41:19,280
SIGNIFICANT DIAGNOSIS DELAY.  

5851
03:41:19,280 --> 03:41:23,880
THERE ARE ONLY A FEW HUNDRED FDA

5852
03:41:23,880 --> 03:41:25,640
APPROVED TREATMENTS AND EVEN

5853
03:41:25,640 --> 03:41:27,600
THOSE THAT HAVE TREATMENTS THERE

5854
03:41:27,600 --> 03:41:31,480
ARE LIMITATIONS ON IMPACT OF

5855
03:41:31,480 --> 03:41:36,280
PARTICULAR TREATMENT HAS ACROSS

5856
03:41:36,280 --> 03:41:38,160
INDIVIDUALS. MOST RARE DISEASES

5857
03:41:38,160 --> 03:41:43,240
ARE NOT WELL UNDERSTOOD. TEND TO

5858
03:41:43,240 --> 03:41:45,280
BE SERIOUS COMPLEX AND LIFE

5859
03:41:45,280 --> 03:41:50,240
LONG. INDUSTRY AND PATIENT

5860
03:41:50,240 --> 03:41:53,000
ADVOCACY COLLABORATIONS ARE KEY

5861
03:41:53,000 --> 03:41:57,520
TO SUCCESS FOR ALL PHASES ACROSS

5862
03:41:57,520 --> 03:42:01,080
DRUG DEVELOPMENT. TODAY WE WILL

5863
03:42:01,080 --> 03:42:02,760
BE DISCUSSING LESSONS LEARNED

5864
03:42:02,760 --> 03:42:08,840
FROM A PHASE 1, 2 TRIAL FOR

5865
03:42:08,840 --> 03:42:10,920
PULMONARY SARCOIDOSIS DESPITE

5866
03:42:10,920 --> 03:42:12,680
FACED WITH A CHALLENGING

5867
03:42:12,680 --> 03:42:14,360
PANDEMIC ENVIRONMENT AND ADVICE

5868
03:42:14,360 --> 03:42:16,280
FOR CLINICAL TRIALS SUCCESSES IN

5869
03:42:16,280 --> 03:42:19,800
THE FUTURE.  DR. SHUKLA, I WOULD

5870
03:42:19,800 --> 03:42:23,520
LIKE TO START WITH YOU. WHAT

5871
03:42:23,520 --> 03:42:24,840
BARRIERS DID YOU SEE IN THE

5872
03:42:24,840 --> 03:42:28,280
RESEARCH COMMUNITY, SPECIFIC TO

5873
03:42:28,280 --> 03:42:30,920
PULMONARY SARCOIDOSIS?

5874
03:42:30,920 --> 03:42:32,680
>> THANK YOU FOR INVITING ME ON

5875
03:42:32,680 --> 03:42:35,960
THIS PANEL.  SHAZIA. I THINK ONE

5876
03:42:35,960 --> 03:42:40,000
OF THE FIRST THING THAT WE

5877
03:42:40,000 --> 03:42:41,720
ENCOUNTERED WHEN WE STARTED TO

5878
03:42:41,720 --> 03:42:44,280
THINK ABOUT MOVING OUR POTENTIAL

5879
03:42:44,280 --> 03:42:46,400
THERAPY INTO SARCOIDOSIS WAS

5880
03:42:46,400 --> 03:42:49,120
REALLY UNDERSTANDING THE

5881
03:42:49,120 --> 03:42:52,360
DISEASE. DISEASE EDUCATION AND

5882
03:42:52,360 --> 03:42:53,880
START TO MECHANISTIC

5883
03:42:53,880 --> 03:42:56,240
UNDERSTANDING THE MECHANISM OF

5884
03:42:56,240 --> 03:42:59,320
ACTION, ETIOLOGY. AND WE TOOK A

5885
03:42:59,320 --> 03:43:00,480
RATHER UNORTHODOX APPROACH

5886
03:43:00,480 --> 03:43:02,280
BECAUSE WE WORK IN A VERY NEW

5887
03:43:02,280 --> 03:43:10,080
AREA OF BIOLOGY, THAT ITSELF IS

5888
03:43:10,080 --> 03:43:12,280
NOT IN ANY MEDICAL IMMUNOLOGY

5889
03:43:12,280 --> 03:43:14,080
TEXT BOOKS. SOY REACHED OUT TO

5890
03:43:14,080 --> 03:43:17,080
NUMBER OF PATIENT FOUNDATIONS

5891
03:43:17,080 --> 03:43:18,880
VERY EARLY ON WHEN WE HAD

5892
03:43:18,880 --> 03:43:19,840
PRE-CLINICAL DATA, DATA IN

5893
03:43:19,840 --> 03:43:23,600
ANIMALS.  AS I WAS A LITTLE

5894
03:43:23,600 --> 03:43:25,920
UNORTHODOX. WE STARTED TO LEARN

5895
03:43:25,920 --> 03:43:32,160
MORE ABOUT SARCOIDOSIS.

5896
03:43:32,160 --> 03:43:36,320
MECHANISM, POTENTIAL

5897
03:43:36,320 --> 03:43:38,240
PERTURBATION IN DISEASE WHERE WE

5898
03:43:38,240 --> 03:43:39,880
CAN MAKE IMPACT AND WE SAT WITH

5899
03:43:39,880 --> 03:43:41,120
EXPERTS TO UNDERSTAND THE

5900
03:43:41,120 --> 03:43:45,520
DISEASE REALLY EARLY ON.  SO THE

5901
03:43:45,520 --> 03:43:47,200
FIRST PART WAS UNDERSTANDING OF

5902
03:43:47,200 --> 03:43:49,480
THE DISEASE, PATHOPHYSIOLOGY.

5903
03:43:49,480 --> 03:43:52,120
THIS ENWE STARTED REALLY

5904
03:43:52,120 --> 03:43:55,280
UNDERSTAND THE BURDEN OVERDOSES

5905
03:43:55,280 --> 03:43:57,560
AND WHERE I THERAPY MIGHT MAKE

5906
03:43:57,560 --> 03:44:01,240
POTENTIAL IMPACT. WITH OUR

5907
03:44:01,240 --> 03:44:03,600
THERAPIES EARLY SIGNAL AS

5908
03:44:03,600 --> 03:44:07,440
POTENTIAL ANTI-INFLAMMATORY OR

5909
03:44:07,440 --> 03:44:09,760
ANTI-FIBROTIC WE THOUGHT IT WAS

5910
03:44:09,760 --> 03:44:10,720
POTENTIAL GOOD DISEASE FOR US TO

5911
03:44:10,720 --> 03:44:14,880
TARGET. THAT INVOLVED DISCUSSION

5912
03:44:14,880 --> 03:44:21,480
AND A LOT OF TEACHING ON BEHALF

5913
03:44:21,480 --> 03:44:23,160
OF PATIENTS AND EXPERTS WHERE

5914
03:44:23,160 --> 03:44:24,920
THEY TAUGHT US HERE IS WHAT THE

5915
03:44:24,920 --> 03:44:27,120
DISEASE IS ABOUT, WHERE THERE IS

5916
03:44:27,120 --> 03:44:29,960
BURDEN OF DISEASE AND HERE IS

5917
03:44:29,960 --> 03:44:31,520
WHERE WE NEED A BETTER THERAPY.

5918
03:44:31,520 --> 03:44:33,480
AS WHICH STARTED TO GENERATE

5919
03:44:33,480 --> 03:44:36,680
MORE DATA WE REALLY OPENED THE

5920
03:44:36,680 --> 03:44:39,880
DOORS TO SHOW EXPERTS AND GROUPS

5921
03:44:39,880 --> 03:44:42,600
LIKE FSR WHAT PRE-CLINICAL DATA

5922
03:44:42,600 --> 03:44:45,920
LOOKED LIKE AND TOOK A DIFFERENT

5923
03:44:45,920 --> 03:44:46,960
APPROACH SAYING DO YOU THINK

5924
03:44:46,960 --> 03:44:49,320
THIS WOULD BE A USEFUL THERAPY

5925
03:44:49,320 --> 03:44:54,240
TO MOVE INTO SARCOIDOSIS. AS WE

5926
03:44:54,240 --> 03:44:58,200
STARTED TO GENERATE MORE DATA WE

5927
03:44:58,200 --> 03:45:00,280
UNDERSTAND MORE ABOUT TREATMENT

5928
03:45:00,280 --> 03:45:01,200
BURDEN, CURRENT TREATMENT. THAT

5929
03:45:01,200 --> 03:45:03,080
IS WHERE WE STARTED TO START TO

5930
03:45:03,080 --> 03:45:05,200
THINK ABOUT HOW WE DESIGN A

5931
03:45:05,200 --> 03:45:09,880
TRIAL BUT A TRIAL THAT ALSO

5932
03:45:09,880 --> 03:45:12,480
FOCUSES EARLY ON MAKING IMPACT

5933
03:45:12,480 --> 03:45:14,840
FOR PATIENTS. SO WHAT COULD WE

5934
03:45:14,840 --> 03:45:17,600
DO WITH A PROTOCOL THAT WOULD

5935
03:45:17,600 --> 03:45:21,080
HAVE A MEANINGFUL SIGNAL? A LOT

5936
03:45:21,080 --> 03:45:22,920
OF BIOTECH COMPANIES AND I HAVE

5937
03:45:22,920 --> 03:45:24,840
BEEN IN INDUSTRY SOME TIME NOW

5938
03:45:24,840 --> 03:45:28,240
FOCUS ON A BIOMARKER WHICH CAN

5939
03:45:28,240 --> 03:45:30,480
BE WILDLY IMPORTANT FROM A

5940
03:45:30,480 --> 03:45:31,600
SCIENTIFIC POINT BUT DOES THAT

5941
03:45:31,600 --> 03:45:35,480
MAKE IMPACT IN PATIENTs LIVES?

5942
03:45:35,480 --> 03:45:37,480
THERE THERE IS RISK INVOLVED IN

5943
03:45:37,480 --> 03:45:38,840
TAKING SOME OF THE APPROACHES WE

5944
03:45:38,840 --> 03:45:42,280
TOOK WITH EARLY PROTOCOL. WHICH

5945
03:45:42,280 --> 03:45:43,880
FOCUSED ON POTENTIALLY LOOKING

5946
03:45:43,880 --> 03:45:45,200
AT A STEROID SPARING DESIGN.

5947
03:45:45,200 --> 03:45:47,280
BECAUSE WE LEARN FROM PATIENTS

5948
03:45:47,280 --> 03:45:49,600
EARLY ON THAT STEROIDS ARE JUST

5949
03:45:49,600 --> 03:45:51,720
AWFUL AND IF WE ARE GOING TO

5950
03:45:51,720 --> 03:45:53,920
CREATE A NEW THERAPY LET'S DO SO

5951
03:45:53,920 --> 03:45:55,880
BY IMMEDIATELY STARTING TO

5952
03:45:55,880 --> 03:45:57,760
ANSWER QUESTIONS COULD THIS BE

5953
03:45:57,760 --> 03:45:59,160
USEFUL IN PEELING BACK SOME OF

5954
03:45:59,160 --> 03:46:03,920
THE STEROID UTILIZATION OR

5955
03:46:03,920 --> 03:46:05,040
MANAGE TO REPLACE STEROIDS. SO

5956
03:46:05,040 --> 03:46:09,000
ALL THESE THINGS INVOLVED THE

5957
03:46:09,000 --> 03:46:11,440
FIRST CHALLENGE OF BEING BRAVES

5958
03:46:11,440 --> 03:46:12,400
ENOUGH AND HAVING ABILITY TO

5959
03:46:12,400 --> 03:46:14,400
REACH OUT TO GROUPS AND IT

5960
03:46:14,400 --> 03:46:17,480
WASN'T JUST SARCOIDOSIS

5961
03:46:17,480 --> 03:46:19,400
COMMUNITY BUT WE REACHED OUT TO

5962
03:46:19,400 --> 03:46:22,520
OTHER PATIENT FOUNDATIONS AND

5963
03:46:22,520 --> 03:46:25,200
PULMONARY FIBROSIS SCHEMER DERMA

5964
03:46:25,200 --> 03:46:27,040
WHERE WE THOUGHT THERAPY WAS

5965
03:46:27,040 --> 03:46:31,880
USEFUL BUT IN TOTAL IT INVOLVES

5966
03:46:31,880 --> 03:46:34,560
AN APPROACH WE SAT SIDE BY SIDE

5967
03:46:34,560 --> 03:46:36,880
TO UNDERSTAND WHAT WE DON'T KNOW

5968
03:46:36,880 --> 03:46:38,480
FROM MECHANISM POINT OF VIEW,

5969
03:46:38,480 --> 03:46:39,640
WHAT DO WE KNOW ABOUT THE

5970
03:46:39,640 --> 03:46:44,240
DISEASE. WHAT DON'T WE KNOW

5971
03:46:44,240 --> 03:46:46,280
ABOUT TREATMENT I HI IT WAS A

5972
03:46:46,280 --> 03:46:49,280
FULL JOURNEY HERE THAT I AM

5973
03:46:49,280 --> 03:46:51,720
GRATEFUL TO HAVE PARTNERED

5974
03:46:51,720 --> 03:46:55,680
REALLY EARLY ON WITH THE FSR.

5975
03:46:55,680 --> 03:46:58,480
>> GREAT. THANK YOU. THAT IS

5976
03:46:58,480 --> 03:47:01,480
VERY HELPFUL. ERIKA, QUESTION

5977
03:47:01,480 --> 03:47:04,600
FOR YOU. AS A PATIENT WHY IS IT

5978
03:47:04,600 --> 03:47:06,680
IMPORTANT THAT PHARMACEUTICAL

5979
03:47:06,680 --> 03:47:07,800
COMPANIES LISTEN TO PATIENTS

5980
03:47:07,800 --> 03:47:10,320
WHEN CREATING TRIALS?

5981
03:47:10,320 --> 03:47:13,800
>> THANK YOU FOR THAT QUESTION.

5982
03:47:13,800 --> 03:47:15,640
PATIENTS NAVIGATE LIFE WITH

5983
03:47:15,640 --> 03:47:17,600
THEIR DISEASE AND THEY HAVE A

5984
03:47:17,600 --> 03:47:20,080
DAILY JOURNAL OF NUANCES AND

5985
03:47:20,080 --> 03:47:21,760
LIFE HAIKS TO HELP SURVIVE.

5986
03:47:21,760 --> 03:47:25,040
LISTENING TO PATIENTS HELP

5987
03:47:25,040 --> 03:47:25,840
PHARMACEUTICAL COMPANIES BRING

5988
03:47:25,840 --> 03:47:30,280
IN WHAT MATTERS MOST AND PATIENT

5989
03:47:30,280 --> 03:47:33,360
PRIORITIES. IT IS REALLY

5990
03:47:33,360 --> 03:47:35,680
IMPERATIVE THAT THE

5991
03:47:35,680 --> 03:47:37,600
PHARMACEUTICAL COMPANIES, THEY

5992
03:47:37,600 --> 03:47:39,400
THINK ABOUT -- THEY INTEGRATE

5993
03:47:39,400 --> 03:47:42,920
WHAT REALLY MATTERS TO THE

5994
03:47:42,920 --> 03:47:45,040
PATIENT THE MOST AND HOW THEY

5995
03:47:45,040 --> 03:47:46,240
AFFECT QUALITY OF LIFE, THEY

5996
03:47:46,240 --> 03:47:49,360
NEED TO PUT THAT TYPE OF

5997
03:47:49,360 --> 03:47:52,280
MINDFULNESS INTO THEIR CLINICAL

5998
03:47:52,280 --> 03:47:53,800
TRIALS. TO UNDERSTAND WHAT

5999
03:47:53,800 --> 03:47:57,360
MATTERS MOST TO PATIENTS, LET'S

6000
03:47:57,360 --> 03:47:58,960
TAKE FOR INSTANCE OR LOOK AT ONE

6001
03:47:58,960 --> 03:48:03,000
OF THE BIGGEST QUALITY OF LIFE

6002
03:48:03,000 --> 03:48:06,480
MEASURES IS HOW A PATIENT DOES

6003
03:48:06,480 --> 03:48:10,120
ON STEROIDS. HOW A PATIENT BODY

6004
03:48:10,120 --> 03:48:11,920
PROCESSES STEROID, THAT IS OFTEN

6005
03:48:11,920 --> 03:48:16,320
THE KEY, THAT SETS THE TONE OF

6006
03:48:16,320 --> 03:48:17,560
THEY ARE -- THEIR QUALITY OF

6007
03:48:17,560 --> 03:48:20,560
LIFE MEASURES. STEROIDS OFFER

6008
03:48:20,560 --> 03:48:23,920
FIRST LINE DEFENSE FOR TREATING

6009
03:48:23,920 --> 03:48:25,200
SARCOIDOSIS SO YOU CAN'T AVOID

6010
03:48:25,200 --> 03:48:26,880
OR GET AROUND THEM. THEY

6011
03:48:26,880 --> 03:48:28,600
EFFECTIVELY RECUSE STOMACH

6012
03:48:28,600 --> 03:48:30,280
EPIFLAYMATION. HOWEVER IN TANDEM

6013
03:48:30,280 --> 03:48:33,560
THEY CAUSE SOME PATIENTS

6014
03:48:33,560 --> 03:48:38,360
IMMEDIATE WAKING, DEPRESSION,

6015
03:48:38,360 --> 03:48:43,520
SHAME FROM CHANGING APPEARANCE

6016
03:48:43,520 --> 03:48:45,240
AND ALSO MOOD SWINGS JUST TO

6017
03:48:45,240 --> 03:48:49,000
NAME A FEW SIDE EFFECTS.  SO A

6018
03:48:49,000 --> 03:48:51,720
PATIENT THAT IS EXPERIENCING ANY

6019
03:48:51,720 --> 03:48:53,640
OF THESE SIDE EFFECTS, IS REALLY

6020
03:48:53,640 --> 03:48:57,080
GOING TO BE LOOKING FOR A

6021
03:48:57,080 --> 03:49:00,720
MEDICAL SOLUTION THAT CAN

6022
03:49:00,720 --> 03:49:02,200
SEVERELY IMPROVE THEIR EVERY DAY

6023
03:49:02,200 --> 03:49:04,480
QUALITY OF LIFE. MEDICAL

6024
03:49:04,480 --> 03:49:07,680
SOLUTION THAT CAN REDUCE THE

6025
03:49:07,680 --> 03:49:12,320
INFLAMMATION BUT NOT CAUSE

6026
03:49:12,320 --> 03:49:14,480
DISRUPTION TO EVERY DAY LIFE DUE

6027
03:49:14,480 --> 03:49:15,840
TO SIDE EFFECTS. THAT IS WHAT

6028
03:49:15,840 --> 03:49:16,960
PATIENTS ARE LOOKING FOR. THE

6029
03:49:16,960 --> 03:49:20,680
WORKING MOM IS GOING TO WANT A

6030
03:49:20,680 --> 03:49:21,960
SOLUTION WITHOUT HAVING TO

6031
03:49:21,960 --> 03:49:23,040
MANAGE DEPRESSION WHILE

6032
03:49:23,040 --> 03:49:24,880
PARENTING HER CHILDREN. AND

6033
03:49:24,880 --> 03:49:28,760
OUTCOMES IS VARY PER PATIENT. SO

6034
03:49:28,760 --> 03:49:35,600
IN THE PHARMA COMPANY BEST

6035
03:49:35,600 --> 03:49:39,800
INTEREST. THAT CAN TRULY SERVE

6036
03:49:39,800 --> 03:49:41,480
AS A BRIDGE BETWEEN PATIENT

6037
03:49:41,480 --> 03:49:43,880
NEEDS, AND MEDICAL SOLUTION LEAD

6038
03:49:43,880 --> 03:49:46,360
TO POSITIVE HEALTH OUTCOMES.  

6039
03:49:46,360 --> 03:49:49,360
WHEN I FIRST STARTED TREATING MY

6040
03:49:49,360 --> 03:49:51,040
SARCOIDOSIS I WAS ON PREDNISONE,

6041
03:49:51,040 --> 03:49:52,520
I BLINKED AND I GAINED 15

6042
03:49:52,520 --> 03:49:54,680
POUNDS. I ALSO SUFFERED FROM

6043
03:49:54,680 --> 03:49:59,000
INCREASED DEPRESSION, CLASSIC

6044
03:49:59,000 --> 03:50:01,200
MOOD -- ONE DAY AT WORK I

6045
03:50:01,200 --> 03:50:03,000
GLIMPSED MY REFLECT IN THE HALLS

6046
03:50:03,000 --> 03:50:05,520
AND I BROKE DOWN TO TEARS. IT

6047
03:50:05,520 --> 03:50:07,720
MADE ME EVEN MORE DEPRESSED. BY

6048
03:50:07,720 --> 03:50:09,480
TIME I GOT HOME I WAS DEPLETED

6049
03:50:09,480 --> 03:50:11,680
EMOTIONALLY AND THEN I REMEMBER

6050
03:50:11,680 --> 03:50:15,200
SOMETIMES MY SARCOIDOSIS -- THE

6051
03:50:15,200 --> 03:50:17,080
STRESS THEN I SUDDENLY STRESSED

6052
03:50:17,080 --> 03:50:19,000
OUT ABOUT HOW NOT TO STRESS

6053
03:50:19,000 --> 03:50:21,520
MYSELF OUT BECAUSE OF -- IT WAS

6054
03:50:21,520 --> 03:50:23,320
LIKE ON HAMSTER WHEEL AND NOT

6055
03:50:23,320 --> 03:50:24,880
ABLE TO GET OUT. IT IS THE

6056
03:50:24,880 --> 03:50:26,680
THINGS LIKE THAT THAT AFFECT THE

6057
03:50:26,680 --> 03:50:28,440
PATIENTS HAPPINESS AND JOY,

6058
03:50:28,440 --> 03:50:30,200
THOSE THINGS REALLY MATTER. 

6059
03:50:30,200 --> 03:50:31,400
BEING ABLE TO HAVE DINNER WITH

6060
03:50:31,400 --> 03:50:32,960
YOUR CHILDREN AND NOT BE

6061
03:50:32,960 --> 03:50:35,840
FATIGUED, BEING ABLE TO CLIMB A

6062
03:50:35,840 --> 03:50:36,680
FLIGHT OF STAIRS WITHOUT FEELING

6063
03:50:36,680 --> 03:50:40,120
LIKE YOU NEED A DEFIBRILLATOR,

6064
03:50:40,120 --> 03:50:42,040
FEELING CONFIDENT IN WHO YOU ARE

6065
03:50:42,040 --> 03:50:44,280
THOUGH YOU HAVE SARCOIDOSIS YOU

6066
03:50:44,280 --> 03:50:45,240
MAYBE PRESENT ON YOUR SKIN.

6067
03:50:45,240 --> 03:50:48,000
EVERY DAY LIVING AND QUALITY OF

6068
03:50:48,000 --> 03:50:50,600
LIFE IS PYRAMID TO PATIENTS. 

6069
03:50:50,600 --> 03:50:52,960
PATIENTS NEED PHARMACEUTICAL

6070
03:50:52,960 --> 03:50:53,960
COMPANIES TO CONSIDER IN ALL

6071
03:50:53,960 --> 03:50:55,880
SYMPTOMS ENGAGE IN SCENARIOS HOW

6072
03:50:55,880 --> 03:50:57,280
TREATMENT WILL LOOK FOR PATIENTS

6073
03:50:57,280 --> 03:50:58,160
OF ECONOMIC BACKGROUNDS AND

6074
03:50:58,160 --> 03:51:00,720
CREATE A PARTNERSHIP WITH THE

6075
03:51:00,720 --> 03:51:02,480
COMMUNITY TO REFINE THEIR

6076
03:51:02,480 --> 03:51:04,440
MISSION AND APPROACH TO CREATING

6077
03:51:04,440 --> 03:51:06,120
VIABLE SOLUTIONS.  

6078
03:51:06,120 --> 03:51:09,480
>> THANK YOU, ERIKA. THAT'S

6079
03:51:09,480 --> 03:51:11,080
INCREDIBLE. SO IMPORTANT.

6080
03:51:11,080 --> 03:51:13,000
SUFFICIENT AN IMPORTANT MESSAGE.

6081
03:51:13,000 --> 03:51:14,760
OUTCOMES THAT MATTER TO PATIENTS

6082
03:51:14,760 --> 03:51:16,200
AND THAT IS HOW WE CAN GATHER

6083
03:51:16,200 --> 03:51:18,720
THOSE. THANK YOU. NEXT QUESTION

6084
03:51:18,720 --> 03:51:26,560
FOR YOU, TRISHA -- TRICHA, WHAT

6085
03:51:26,560 --> 03:51:28,960
ARE SOME OF THE THINGS REPORTED

6086
03:51:28,960 --> 03:51:35,280
FOR THE TEAM PHASE 2 STUDY IN

6087
03:51:35,280 --> 03:51:37,680
SARCO SARCOIDOSIS.

6088
03:51:37,680 --> 03:51:41,000
>> WE ARE SO THANKFUL TO

6089
03:51:41,000 --> 03:51:42,320
REACHING OUT EARLY TO ENSURE

6090
03:51:42,320 --> 03:51:43,520
PATIENT VOICE WAS AT THE ENTER

6091
03:51:43,520 --> 03:51:46,240
OF THE RILE. THE FOUNDATION FOR

6092
03:51:46,240 --> 03:51:48,240
SARCOIDOSIS RESEARCH IS LEADING

6093
03:51:48,240 --> 03:51:49,400
INTERNATIONAL NON-PROFIT

6094
03:51:49,400 --> 03:51:50,600
ORGANIZATION. DEDICATED TO

6095
03:51:50,600 --> 03:51:52,360
FINDING CURE TO SARCOIDOSIS. AND

6096
03:51:52,360 --> 03:51:54,120
IMPROVING THE LIVES OF PATIENTS

6097
03:51:54,120 --> 03:51:55,160
THROUGH RESEARCH SUPPORT AND

6098
03:51:55,160 --> 03:51:58,360
EDUCATION. WE HAVE A STRONG

6099
03:51:58,360 --> 03:51:59,520
RELATIONSHIP WITH THE WORLD

6100
03:51:59,520 --> 03:52:00,560
LEADING EXPERTS.  WE HAVE A

6101
03:52:00,560 --> 03:52:02,640
FINGER ON THE PULSE OF

6102
03:52:02,640 --> 03:52:04,880
SARCOIDOSIS RESEARCH AND ABLE TO

6103
03:52:04,880 --> 03:52:06,240
PROVIDE MEANINGFUL REFLECTIONS

6104
03:52:06,240 --> 03:52:07,680
FROM OUR ENGAGEMENT WITH

6105
03:52:07,680 --> 03:52:09,480
PATIENTS ON THEIR DESIRED NEEDS,

6106
03:52:09,480 --> 03:52:11,680
THEIR HOPES, AND THEIR CONCERNS

6107
03:52:11,680 --> 03:52:15,480
ABOUT CLINICAL TRIALS. ATTIRE

6108
03:52:15,480 --> 03:52:16,080
RECOGNIZED OUR POSITION IN THE

6109
03:52:16,080 --> 03:52:17,520
COMMUNITY AND SOUGHT TO FIND

6110
03:52:17,520 --> 03:52:19,800
MEANINGFUL WAYS FOR US TO PLAY A

6111
03:52:19,800 --> 03:52:21,680
PIVOTAL ROLE IN BUILDING THEIR

6112
03:52:21,680 --> 03:52:23,120
RELATIONSHIP WITH KOLs AND

6113
03:52:23,120 --> 03:52:25,240
WITH THE SUBJECT MATTER EXPERTS.

6114
03:52:25,240 --> 03:52:26,920
AND FOR IDENTIFYING PATIENT

6115
03:52:26,920 --> 03:52:29,280
NEEDS TO HELP SHAPE THE TRIAL.

6116
03:52:29,280 --> 03:52:31,600
WHAT IS UNIQUE AND DIFFERENT

6117
03:52:31,600 --> 03:52:34,080
HERE WAS THE INVITATION FOR FSR

6118
03:52:34,080 --> 03:52:36,040
TO HAVE A SEAT AT THE TABLE AND

6119
03:52:36,040 --> 03:52:37,520
A VOICE AT EVERY STAGE OF THE

6120
03:52:37,520 --> 03:52:41,080
TRIAL. NOT JUST TO REFLECT AFTER

6121
03:52:41,080 --> 03:52:42,680
PROTOCOL IS WRITTEN OR AFTER ALL

6122
03:52:42,680 --> 03:52:45,040
THE OUTCOMES WERE SELECTED AND

6123
03:52:45,040 --> 03:52:46,680
VETTED. LISTENING TO THE

6124
03:52:46,680 --> 03:52:47,480
PATIENTINGS MEANS BEING WILLING

6125
03:52:47,480 --> 03:52:50,920
TO ADAPT AND ADJUST. AND THIS IS

6126
03:52:50,920 --> 03:52:53,240
TRULY WHERE ATTIRE EXCELLED.

6127
03:52:53,240 --> 03:52:54,680
THIS PLAYED A SIGNIFICANT ROLE

6128
03:52:54,680 --> 03:52:57,360
IN TRIALS SUCCESS. AS YOU HEARD

6129
03:52:57,360 --> 03:53:00,800
FROM THERE SHUKLA AND ERIKA WITH

6130
03:53:00,800 --> 03:53:01,920
STEROIDS AND PAYING ATTENTION TO

6131
03:53:01,920 --> 03:53:02,760
WHAT IS MOST IMPORTANT TO THE

6132
03:53:02,760 --> 03:53:05,800
PATIENTS.  ATTIRE WASN'T AD

6133
03:53:05,800 --> 03:53:07,000
FRIDAY TO ASK THE HARD QUESTIONS

6134
03:53:07,000 --> 03:53:08,680
AND EXPECTED THE UNEXPECTED

6135
03:53:08,680 --> 03:53:13,600
ANSWERS.  ADVOCACY ORGANIZATIONS

6136
03:53:13,600 --> 03:53:14,880
MUST DO WORK HERE TO PROVIDE

6137
03:53:14,880 --> 03:53:15,960
SENSE ASSISTANCE. MY

6138
03:53:15,960 --> 03:53:17,440
RECOMMENDATION TO ADVOCACY

6139
03:53:17,440 --> 03:53:21,120
ORGANIZES IS TO START NOW. BY

6140
03:53:21,120 --> 03:53:21,560
BUILDING STROLLINGS

6141
03:53:21,560 --> 03:53:22,480
RELATIONSHIPS WITH YOUR

6142
03:53:22,480 --> 03:53:24,880
CLINICIANS, TO EDUCATE YOUR

6143
03:53:24,880 --> 03:53:27,440
COMMUNITY. REACH OUT TO

6144
03:53:27,440 --> 03:53:28,880
INDUSTRY, AND WELCOME THEM TO

6145
03:53:28,880 --> 03:53:30,880
YOUR TABLE AND ASK THEM TO

6146
03:53:30,880 --> 03:53:33,800
WELCOME YOU TO THEIR TABLE. 

6147
03:53:33,800 --> 03:53:36,240
SURVEY YOUR PATIENT COMMUNITY AS

6148
03:53:36,240 --> 03:53:37,760
YOU LEARN MORE ASK YOUR

6149
03:53:37,760 --> 03:53:40,040
COMMUNITY TO REFLECT AND PROVIDE

6150
03:53:40,040 --> 03:53:41,960
FEEDBACK. THE PARTNERSHIP WE

6151
03:53:41,960 --> 03:53:44,360
HAVE WITH ATIRE CREATED TRUE BUY

6152
03:53:44,360 --> 03:53:46,440
IN AND TRUST IN THE COMMUNITY. 

6153
03:53:46,440 --> 03:53:48,040
WHICH IS CENTRAL TO ALL

6154
03:53:48,040 --> 03:53:49,480
SUCCESSFUL CLINICAL TRIALS.  AND

6155
03:53:49,480 --> 03:53:51,400
IT MADE IT POSSIBLE FOR US TO

6156
03:53:51,400 --> 03:53:53,360
WORK TOGETHER TO FINISH

6157
03:53:53,360 --> 03:53:55,000
RECRUITMENT DURING ONE OF THE

6158
03:53:55,000 --> 03:53:56,640
BIGGEST RESEARCH INSTRUCTORS OF

6159
03:53:56,640 --> 03:53:58,680
OUR TIME, THE EMERGENCE AND

6160
03:53:58,680 --> 03:54:00,960
SURGE OF COVID. COLLABORATION IS

6161
03:54:00,960 --> 03:54:02,680
KEY AND PROGRESS IS ONLY

6162
03:54:02,680 --> 03:54:04,000
POSSIBLE TOGETHER. 

6163
03:54:04,000 --> 03:54:07,040
>> GREAT, TRICHA. I KNOW FSR IS

6164
03:54:07,040 --> 03:54:10,760
A REMARKABLE EXAMPLE OF SUCH A

6165
03:54:10,760 --> 03:54:12,280
GREAT COLLABORATION IN INDUSTRY.

6166
03:54:12,280 --> 03:54:14,800
IT IS NOT JUST WITH ATTIRE. I

6167
03:54:14,800 --> 03:54:16,480
KNOW YOU ARE WORKING WITH OTHER

6168
03:54:16,480 --> 03:54:17,840
ORGANIZATIONS OTHER MEMBERS OF

6169
03:54:17,840 --> 03:54:19,680
THE INDUSTRY. SO THIS IS A GREAT

6170
03:54:19,680 --> 03:54:21,000
EXAMPLE TO SHARE WITH OTHERS.

6171
03:54:21,000 --> 03:54:24,720
THANK YOU. DR. SHUKLA, WHAT DID

6172
03:54:24,720 --> 03:54:27,680
YOU DO TO PARTICULARLY ADAPT TO

6173
03:54:27,680 --> 03:54:30,120
THE CHALLENGES WITH COVID-19 AND

6174
03:54:30,120 --> 03:54:32,040
CHALLENGES WITH ENROLLMENT TO

6175
03:54:32,040 --> 03:54:33,840
CONTINUE ENROLLMENT ESPECIALLY?

6176
03:54:33,840 --> 03:54:35,280
>> THAT WAS A HUGE CHALLENGE.

6177
03:54:35,280 --> 03:54:37,120
AND I THINK IT WOULDN'T BE

6178
03:54:37,120 --> 03:54:38,240
ACTUALLY -- WE WOULDN'T HAVE

6179
03:54:38,240 --> 03:54:40,720
BEEN ABLE TO MOVE THROUGH THIS

6180
03:54:40,720 --> 03:54:43,400
TRIAL WHICH COULD HAVE BEEN A

6181
03:54:43,400 --> 03:54:47,120
BROKEN TRIAL, MANY SPONSORS

6182
03:54:47,120 --> 03:54:49,000
BIOTECH SPONSORS PHARMA SPONSORS

6183
03:54:49,000 --> 03:54:51,280
TEAL WITH THESE CHALLENGES AND

6184
03:54:51,280 --> 03:54:52,600
SOMETIMES TRIALS ARE -- WERE

6185
03:54:52,600 --> 03:54:54,600
BROKEN. THAT IS WHERE IN THE

6186
03:54:54,600 --> 03:54:56,600
MIDDLE OF A TRIAL YOU JUST CAN'T

6187
03:54:56,600 --> 03:54:59,080
CONTINUE ENROLLMENT AND YOU END

6188
03:54:59,080 --> 03:55:01,760
UP WITH A LIMITED DATA SET.  TO

6189
03:55:01,760 --> 03:55:05,080
LOOK AT.  AND VERY DIFFICULT TO

6190
03:55:05,080 --> 03:55:08,440
THEN MAKE JUDGMENTS AROUND

6191
03:55:08,440 --> 03:55:13,560
TRENDS OF EFFICACY. BACK TO WHAT

6192
03:55:13,560 --> 03:55:15,280
TRICHA SAID, THE BUY IN EARLY

6193
03:55:15,280 --> 03:55:16,960
WITH PATIENTS THAT ONLY COMES IF

6194
03:55:16,960 --> 03:55:21,440
YOU HAVE TRUST. I THINK WE WERE

6195
03:55:21,440 --> 03:55:25,640
ABLE TO GET THAT TRUST FROM THE

6196
03:55:25,640 --> 03:55:26,520
ORGANIZATION, I CAN REMEMBER

6197
03:55:26,520 --> 03:55:28,000
INITIALLY TRYING TO MAYBE THINK

6198
03:55:28,000 --> 03:55:30,880
ABOUT MOVING IN SARCOIDOSIS,

6199
03:55:30,880 --> 03:55:33,480
EVEN WITH SOME KEY OPINION

6200
03:55:33,480 --> 03:55:35,880
LEADERS, AND I'M NOT A

6201
03:55:35,880 --> 03:55:37,480
PULMONOLOGIST BUT GETTING ONE

6202
03:55:37,480 --> 03:55:41,080
MINUTE OF THEIR TEAM WHILE THEY

6203
03:55:41,080 --> 03:55:42,640
LEFT MEDICAL CONFERENCE AND SAID

6204
03:55:42,640 --> 03:55:44,200
I'M GOING DOWN THE ESCALATOR,

6205
03:55:44,200 --> 03:55:46,320
TALK TO ME NOW. THEY DON'T -- SO

6206
03:55:46,320 --> 03:55:47,720
IT WAS ONE OF THESE THINGS TO

6207
03:55:47,720 --> 03:55:48,880
SAY LOOK I THINK I HAVE A

6208
03:55:48,880 --> 03:55:50,680
CONCEPT HERE THAT COULD BE

6209
03:55:50,680 --> 03:55:52,800
INTERESTING BUT FSR BROUGHT SOME

6210
03:55:52,800 --> 03:55:54,880
OF THOSE EXPERTS TO THE TABLE

6211
03:55:54,880 --> 03:55:57,280
AND THEY HAVE THE RESPECT OF

6212
03:55:57,280 --> 03:55:58,840
PATIENTS. SO SOMETIMES IT WAS

6213
03:55:58,840 --> 03:56:01,640
UNCOMFORTABLE TO BE ABLE TO SHOW

6214
03:56:01,640 --> 03:56:03,280
AND TELL AND THE TRUST STARTS

6215
03:56:03,280 --> 03:56:04,920
WITH ALSO BEING ABLE TO

6216
03:56:04,920 --> 03:56:08,640
UNDERSTAND YOU MAY NOT HEAR

6217
03:56:08,640 --> 03:56:10,080
THINGS THAT MAY FITTED EXACTLY

6218
03:56:10,080 --> 03:56:11,280
WHAT YOU WANT TO DO

6219
03:56:11,280 --> 03:56:12,560
OPERATIONALLY. MAY PRIOR END

6220
03:56:12,560 --> 03:56:15,480
POINT THAT YOU DON'T NECESSARILY

6221
03:56:15,480 --> 03:56:17,520
THINK IS THAT SOMETHING WE

6222
03:56:17,520 --> 03:56:19,680
SHOULD RESEARCH. WE INCORPORATED

6223
03:56:19,680 --> 03:56:22,200
SOME IDEAS, NOT ALL. I THINK

6224
03:56:22,200 --> 03:56:23,920
THAT GIVE AND TAKE IS PART OF

6225
03:56:23,920 --> 03:56:25,280
WHY THIS WAS AN EFFECTIVE

6226
03:56:25,280 --> 03:56:28,880
RELATIONSHIP. ONCE THAT

6227
03:56:28,880 --> 03:56:30,120
FOUNDATION WAS BUILT THAT

6228
03:56:30,120 --> 03:56:31,320
ALLOWED US DURING COVID TO

6229
03:56:31,320 --> 03:56:36,080
FRANKLY HAVE THE ABILITY TO

6230
03:56:36,080 --> 03:56:38,680
MARSHALL THROUGH REALLY

6231
03:56:38,680 --> 03:56:41,880
DIFFICULT TIME ENROLL PATIENTS.

6232
03:56:41,880 --> 03:56:44,000
IT HELPED CERTAIN PATIENTS IS A

6233
03:56:44,000 --> 03:56:48,400
BLINDED STUDY, FEEL BETTER. THEY

6234
03:56:48,400 --> 03:56:50,080
STARTED TO PERFORM BETTER FROM

6235
03:56:50,080 --> 03:56:54,640
DATA POINT OF VIEW. WHAT

6236
03:56:54,640 --> 03:56:56,080
MATTERED IS GETTING OFF STEROIDS

6237
03:56:56,080 --> 03:57:01,160
AND FEELING BETTER.  THAT KEPT

6238
03:57:01,160 --> 03:57:02,720
PATIENTS MOTIVATED IN OUR TRIAL.

6239
03:57:02,720 --> 03:57:05,400
IF I WAS FOLLOWING A BIOMARKER,

6240
03:57:05,400 --> 03:57:07,680
MAYBE IF THAT WAS PRIMARY END

6241
03:57:07,680 --> 03:57:09,480
POINT, WE WOULDN'T HAVE BEEN AS

6242
03:57:09,480 --> 03:57:14,400
SUCCESSFUL. BUT I DO KNOW

6243
03:57:14,400 --> 03:57:15,600
PATIENTS PONT LINE, THEY DIDN'T

6244
03:57:15,600 --> 03:57:17,680
KNOW WHAT THEY WERE ON WHETHER

6245
03:57:17,680 --> 03:57:21,280
PLACEBO OR DRUG. I CAN THINK ONE

6246
03:57:21,280 --> 03:57:23,920
PATIENT THAT FLEW HUNDREDS OF

6247
03:57:23,920 --> 03:57:26,640
MILES FOR THEIR MONTHLY VISIT TO

6248
03:57:26,640 --> 03:57:28,360
CONTINUE IN THE TRIAL. NOT

6249
03:57:28,360 --> 03:57:29,680
KNOWING WHAT THEY WERE ON, THEY

6250
03:57:29,680 --> 03:57:30,400
WERE CONTRIBUTING TO THE DATA

6251
03:57:30,400 --> 03:57:34,880
SET.  SOME OF THAT I THINK HAD

6252
03:57:34,880 --> 03:57:36,840
TO DO WITH SOME OF THE EARLY

6253
03:57:36,840 --> 03:57:38,080
GOOD FOUNDATION WE BUILT IN

6254
03:57:38,080 --> 03:57:42,480
BUILTING THAT TRUST WITH

6255
03:57:42,480 --> 03:57:44,480
VERITABLE ORGANIZATION LIKE FSR.

6256
03:57:44,480 --> 03:57:46,000
THEY KNEW US SO THEY WERE ABLE

6257
03:57:46,000 --> 03:57:49,080
TO ALSO SAY THIS IS A CREDIBLE

6258
03:57:49,080 --> 03:57:55,040
GROUP AND PATIENTS STEPPED UP AT

6259
03:57:55,040 --> 03:57:55,920
THE END OF THE DAY WITHOUT

6260
03:57:55,920 --> 03:57:57,360
KNOWING WHAT THEY ARE ON SAID

6261
03:57:57,360 --> 03:57:58,680
THIS WAS AN IMPORTANT DATA SET

6262
03:57:58,680 --> 03:58:01,880
THAT WE ARE CREATING BEYOND JUST

6263
03:58:01,880 --> 03:58:05,200
WHAT THE OUTCOMES ARE. BECAUSE

6264
03:58:05,200 --> 03:58:11,200
THERE WAS THAT TRUST. SO WE ARE

6265
03:58:11,200 --> 03:58:12,280
FORTUNATE THE PATIENTS CONTINUED

6266
03:58:12,280 --> 03:58:13,760
TO COME IN. SOME CENTERS HAD TO

6267
03:58:13,760 --> 03:58:18,840
SHUT DOWN. MORE THAN OTHERS.  WE

6268
03:58:18,840 --> 03:58:20,760
HAD TO MAKE AMENDMENTS AND

6269
03:58:20,760 --> 03:58:22,240
TWEAKS TO PROTOCOL BECAUSE SOME

6270
03:58:22,240 --> 03:58:24,680
THINGS WE WERE UNABLE TO ACCESS

6271
03:58:24,680 --> 03:58:25,800
DURING COVID BUT AT THE END OF

6272
03:58:25,800 --> 03:58:29,680
THE DAY THE PATIENTS INVOLVEMENT

6273
03:58:29,680 --> 03:58:31,120
IN THE TRIAL ALLOWED US TO LOOK

6274
03:58:31,120 --> 03:58:34,560
AT THIS DATA SET.  AT END OF THE

6275
03:58:34,560 --> 03:58:36,400
DAY IT TURNED OUT WELL FOR US

6276
03:58:36,400 --> 03:58:38,000
BUT PART OF THE JOURNEY HERE IS

6277
03:58:38,000 --> 03:58:42,040
ALSO CREATING DATA THAT DOESN'T

6278
03:58:42,040 --> 03:58:45,040
OCCUR UNLESS PATIENTS GET

6279
03:58:45,040 --> 03:58:46,680
INVOLVED AND THE ONLY REASON

6280
03:58:46,680 --> 03:58:48,640
THEY GOT INVOLVED IS BECAUSE WE

6281
03:58:48,640 --> 03:58:49,080
HAVE THAT FOUNDATION.

6282
03:58:49,080 --> 03:58:51,800
>> GREAT. TRICHA, A QUESTION FOR

6283
03:58:51,800 --> 03:58:53,480
YOU WITH THE PULMONARY

6284
03:58:53,480 --> 03:58:56,600
SARCOIDOSIS TRIAL, WHAT WERE THE

6285
03:58:56,600 --> 03:58:59,480
LEARNINGS FROM THERE FOR PATIENT

6286
03:58:59,480 --> 03:59:00,240
PARTICIPATION, ANY SPECIFIC

6287
03:59:00,240 --> 03:59:02,760
LEARNINGS THAT YOU CAN SHARE?

6288
03:59:02,760 --> 03:59:04,640
>> I WANT TO BUILD A LITTLE BIT

6289
03:59:04,640 --> 03:59:06,080
ON WHAT DR. SHUKLA WAS TALKING

6290
03:59:06,080 --> 03:59:07,880
ABOUT WITH REGARD TO COVID. AND

6291
03:59:07,880 --> 03:59:11,280
THAT TRUST THAT WAS BUILT

6292
03:59:11,280 --> 03:59:12,400
BECAUSE I BELIEVE THAT SHAPED

6293
03:59:12,400 --> 03:59:13,880
QUITE A BIT OF WHAT WE WERE ABLE

6294
03:59:13,880 --> 03:59:15,040
TO DO DURING THOSE CHALLENGING

6295
03:59:15,040 --> 03:59:19,440
TIMES.  SO DURING THAT TIME FSR

6296
03:59:19,440 --> 03:59:22,120
AND ATYR WORKED CLOSELY ON THE

6297
03:59:22,120 --> 03:59:23,760
SHIFTING LANDSCAPE TO PIVOT IN

6298
03:59:23,760 --> 03:59:25,480
THOSE TERMS AND BE ABLE TO HAVE

6299
03:59:25,480 --> 03:59:28,280
CONSTANT CONVERSATIONS.  WE

6300
03:59:28,280 --> 03:59:30,880
WORKED WITH THE TRIAL SITES,

6301
03:59:30,880 --> 03:59:32,720
SPOKE WITH TRIAL COORDINATORS,

6302
03:59:32,720 --> 03:59:36,200
KEPT ATYR INFORMED AND THEY KEPT

6303
03:59:36,200 --> 03:59:38,520
US INFORMED THE REALS SHIM BUILT

6304
03:59:38,520 --> 03:59:40,080
EARLY ON CONTINUED TO GROW

6305
03:59:40,080 --> 03:59:41,120
THROUGHOUT THE MOST CHALLENGING

6306
03:59:41,120 --> 03:59:42,600
THING YOU CAN HAVE RISK OF

6307
03:59:42,600 --> 03:59:45,680
TRIALS COMPLETELY SHUT DOWN. WE

6308
03:59:45,680 --> 03:59:46,560
HAVE FREQUENT CONVERSATION WITH

6309
03:59:46,560 --> 03:59:48,600
SITES TO UNDERSTAND WHAT

6310
03:59:48,600 --> 03:59:51,160
CHALLENGES THEY WERE FACING AND

6311
03:59:51,160 --> 03:59:52,480
BUILT STRONG RELATIONSHIPS WITH

6312
03:59:52,480 --> 03:59:53,360
COORDINATOR WHOSE ARE THE FRONT

6313
03:59:53,360 --> 03:59:55,040
LINE IN A LOT OF WAYS OF THESE

6314
03:59:55,040 --> 03:59:56,160
TRIALS AND IT WAS REALLY

6315
03:59:56,160 --> 03:59:59,600
IMPORTANT FOR US TO HAVE THOSE

6316
03:59:59,600 --> 04:00:00,280
OPEN CONVERSATIONS TO HEAR WHAT

6317
04:00:00,280 --> 04:00:01,840
THEY WERE FACING. WE CREATE AD

6318
04:00:01,840 --> 04:00:03,880
NETWORK THAT ALLOWED THEM TO

6319
04:00:03,880 --> 04:00:05,200
SHARE WITH EACH OTHER AND

6320
04:00:05,200 --> 04:00:06,480
PROVIDE BEST PRACTICE TIPS FOR

6321
04:00:06,480 --> 04:00:07,680
EACH OTHER WHICH MADE IT

6322
04:00:07,680 --> 04:00:09,440
POSSIBLE FOR THEM TO HAVE REALLY

6323
04:00:09,440 --> 04:00:12,880
MEANINGFUL CONVERSATIONS ABOUT

6324
04:00:12,880 --> 04:00:13,880
WHY THEY SHOULD CONTINUE TO

6325
04:00:13,880 --> 04:00:14,640
TRAVEL TO THE TRIALS AND I

6326
04:00:14,640 --> 04:00:18,840
BELIEVE GAUGE. AND ENGAGE. WE

6327
04:00:18,840 --> 04:00:19,960
ENCOURAGE COMMUNICATION WITH

6328
04:00:19,960 --> 04:00:21,560
DOCTOR AND TRIAL SITES AND LET

6329
04:00:21,560 --> 04:00:22,800
THEM KNOW ANY CHALLENGE IN

6330
04:00:22,800 --> 04:00:24,280
PARTICULAR THEY WERE FACING SO

6331
04:00:24,280 --> 04:00:27,120
THAT SOME SOLUTIONS CAN BE

6332
04:00:27,120 --> 04:00:28,120
PROPOSED OR THOUGHT OF IN THE

6333
04:00:28,120 --> 04:00:29,680
MOMENT. WE MAD -- WERE CAREFUL

6334
04:00:29,680 --> 04:00:31,360
TO KEEP THE WHOLE COMMUNITY UP

6335
04:00:31,360 --> 04:00:32,760
TO DATE ON THE TRIAL EVERY STEP

6336
04:00:32,760 --> 04:00:36,920
OF THE WAY. AND AGAIN THANKFUL

6337
04:00:36,920 --> 04:00:40,400
TO ATYR FOR HELPING DO THAT,

6338
04:00:40,400 --> 04:00:43,360
BEING EXHUME KAYTIVE WITH THE

6339
04:00:43,360 --> 04:00:44,920
COMMUNITY NOSHED TO MOVE THAT

6340
04:00:44,920 --> 04:00:46,000
FORWARD. AND THIS WAS

6341
04:00:46,000 --> 04:00:48,000
PARTICULARLY CRITICAL I THINK

6342
04:00:48,000 --> 04:00:51,320
WHEN WE THINK ABOUT COVID

6343
04:00:51,320 --> 04:00:52,520
BECAUSE THE NOISE OF COVID

6344
04:00:52,520 --> 04:00:54,320
DOMINATED ALL DISCUSSIONS RIGHT

6345
04:00:54,320 --> 04:00:56,560
NOW FOR THE LAST TWO YEARS. SO

6346
04:00:56,560 --> 04:00:57,920
FINDING A WAY TO MAKE SURE WE

6347
04:00:57,920 --> 04:01:00,160
WERE ABLE TO BREAK THROUGH THE

6348
04:01:00,160 --> 04:01:03,040
IMPORTANCE OF PARTICIPATENING

6349
04:01:03,040 --> 04:01:03,880
THIS CLINICAL TRIALS BEING

6350
04:01:03,880 --> 04:01:05,320
ACTIVE IN CLINICAL TRIALS AND

6351
04:01:05,320 --> 04:01:08,640
HEARING DIRECTLY REPEATEDLY FROM

6352
04:01:08,640 --> 04:01:10,880
THE ORGANIZATION AND ATYR IS

6353
04:01:10,880 --> 04:01:11,880
ACTIVE IN THAT, TO MAKE SURE

6354
04:01:11,880 --> 04:01:12,960
PEOPLE KNEW THAT THIS TRIAL

6355
04:01:12,960 --> 04:01:17,520
MATTERED.  REGARDLESS THE

6356
04:01:17,520 --> 04:01:19,080
OUTCOME. WE HAD A POSITIVE

6357
04:01:19,080 --> 04:01:20,240
OUTCOME AND THRILLED ABOUT THAT

6358
04:01:20,240 --> 04:01:21,480
BUT REGARDLESS, IT IS IMPORTANT

6359
04:01:21,480 --> 04:01:24,480
THAT THE TRIAL STAYED FRONT AND

6360
04:01:24,480 --> 04:01:26,600
CENTER. CREATED URGENCY AROUND

6361
04:01:26,600 --> 04:01:27,520
CONSIDERING WAYS WE MIGHT WANT

6362
04:01:27,520 --> 04:01:29,640
TO THINK ABOUT FOR FUTURE

6363
04:01:29,640 --> 04:01:31,920
DECENTRALIZATION OF CLINICAL

6364
04:01:31,920 --> 04:01:33,760
TRIALS. TRAVEL BECAME

6365
04:01:33,760 --> 04:01:35,520
COMPLICATED. PATIENTS AT RISK OF

6366
04:01:35,520 --> 04:01:36,640
CONTRACTING COVID ESPECIALLY

6367
04:01:36,640 --> 04:01:42,160
WHEN WE START THINKING ABOUT THE

6368
04:01:42,160 --> 04:01:43,400
SARCOIDOSIS COMMUNITY, THIS IS A

6369
04:01:43,400 --> 04:01:45,280
SERIOUS FACTOR TO PARTICIPATE.

6370
04:01:45,280 --> 04:01:46,800
WHETHER TO GO TO DOCTOR AT ALL,

6371
04:01:46,800 --> 04:01:48,040
THAT'S ONE MORE PLACE THEY HAD

6372
04:01:48,040 --> 04:01:49,600
TO GO OUT INTO THE COMMUNITY AND

6373
04:01:49,600 --> 04:01:52,360
THEY DIDN'T WANT TO RUN THAT

6374
04:01:52,360 --> 04:01:55,480
RISK. THAT BECAME A COMPLICATING

6375
04:01:55,480 --> 04:01:56,920
FACTOR FOR CLINICAL TRIALS. THE

6376
04:01:56,920 --> 04:01:57,920
PANDEMIC MADE THE NEED TO

6377
04:01:57,920 --> 04:02:00,280
CONSIDER SPECIFIC CHALLENGES FOR

6378
04:02:00,280 --> 04:02:01,360
THE UNDERSTAND SERVED

6379
04:02:01,360 --> 04:02:03,120
COMMUNITIES MORE SALIENT. FOR

6380
04:02:03,120 --> 04:02:04,480
YEARS UNDERSERVED POPULATIONS

6381
04:02:04,480 --> 04:02:07,320
HAVE HAD LIMITED ACCESS TO

6382
04:02:07,320 --> 04:02:09,920
CLINICAL TRIALS BECAUSE OF THE

6383
04:02:09,920 --> 04:02:10,960
TRANSPORTATION ISSUE, CONCERNS

6384
04:02:10,960 --> 04:02:13,440
WITH TAKING TIME OFF OR OTHER

6385
04:02:13,440 --> 04:02:15,040
FINANCIAL CONCERNS. THE PANDEMIC

6386
04:02:15,040 --> 04:02:16,800
HAS HIGHLIGHTED WHAT IS

6387
04:02:16,800 --> 04:02:18,880
BASICALLY AN OUTDATED PROCESS

6388
04:02:18,880 --> 04:02:20,440
RIGHT NOW IN OUR CURRENT

6389
04:02:20,440 --> 04:02:24,280
CLINICAL TRIAL MODEL.

6390
04:02:24,280 --> 04:02:26,680
>> THANKS. YOU MENTIONED

6391
04:02:26,680 --> 04:02:29,080
DECENTRALIZED TRIALS, DO YOU SEE

6392
04:02:29,080 --> 04:02:30,480
THAT POSSIBLY SOME LEARNINGS

6393
04:02:30,480 --> 04:02:31,680
FROM WHAT WORKED ON FOR

6394
04:02:31,680 --> 04:02:33,560
IMPROVING WAYS THAT RARE DISEASE

6395
04:02:33,560 --> 04:02:37,360
TRIALS ARE CONDUCTED? OVERALL?

6396
04:02:37,360 --> 04:02:40,000
>> YES, IT REALLY DOES PUT A

6397
04:02:40,000 --> 04:02:41,680
SPOTLIGHT ON THE NEED RIGHT NOW,

6398
04:02:41,680 --> 04:02:42,960
COVID HAS PUT A SPOTLIGHT ON THE

6399
04:02:42,960 --> 04:02:44,840
NEED RIGHT NOW. FOR FOCUSING ON

6400
04:02:44,840 --> 04:02:46,920
WHAT I THINK IS A GAPING HOLE IN

6401
04:02:46,920 --> 04:02:50,000
OUR HEALTHCARE SYSTEM. IN TRYING

6402
04:02:50,000 --> 04:02:52,320
TO ADDRESS IS THE NEEDS FOR

6403
04:02:52,320 --> 04:02:52,920
DECENTRALIZED CLINICAL TRIALS

6404
04:02:52,920 --> 04:02:57,320
THAT HELP WITH BROADER

6405
04:02:57,320 --> 04:02:58,440
DIVERSIFICATION OF TRIALS AND

6406
04:02:58,440 --> 04:02:59,760
MAKING SURE WE HAVE ALL VOICES

6407
04:02:59,760 --> 04:03:00,120
IN THESE TRIALS.

6408
04:03:00,120 --> 04:03:01,920
>> THAT LEADS TO MY NEXT

6409
04:03:01,920 --> 04:03:07,240
QUESTION FOR ERIKA. T WHY IS IT

6410
04:03:07,240 --> 04:03:08,480
IMPORTANT TO HAVE GOOD

6411
04:03:08,480 --> 04:03:09,000
REPRESENTATION IN CLINICAL

6412
04:03:09,000 --> 04:03:10,160
TRIALS? WHAT ARE SOME OF THE

6413
04:03:10,160 --> 04:03:11,680
CONSIDERATIONS THAT YOU THINK

6414
04:03:11,680 --> 04:03:12,280
ARE IMPORTANT FOR INDUSTRY TO

6415
04:03:12,280 --> 04:03:15,440
CONSIDER? A TO IMPROVE DIVERSITY

6416
04:03:15,440 --> 04:03:18,280
IN CLINICAL TRIALS? 

6417
04:03:18,280 --> 04:03:20,200
>> IT IS IMPORTANT TO HAVE GOOD

6418
04:03:20,200 --> 04:03:20,760
REPRESENTATION IN CLINICAL

6419
04:03:20,760 --> 04:03:22,880
TRIALS BECAUSE NOT ALL

6420
04:03:22,880 --> 04:03:24,240
COMMUNITIES ASSESS OR NAVIGATE

6421
04:03:24,240 --> 04:03:25,880
THE DISEASE THE SAME WAY.

6422
04:03:25,880 --> 04:03:27,400
THERE'S SOME COMMUNITIES THE

6423
04:03:27,400 --> 04:03:29,560
STATES ARE MUCH HIGHER AND THE

6424
04:03:29,560 --> 04:03:31,960
CONSEQUENCE ARE MUCH DIRE. FOR

6425
04:03:31,960 --> 04:03:33,080
EXAMPLE, BLACK AMERICAN WOMEN

6426
04:03:33,080 --> 04:03:37,040
ARE THREE TIMES MORE LIKELY TO

6427
04:03:37,040 --> 04:03:38,680
DEVELOP SARCOIDOSIS THAN WHITE

6428
04:03:38,680 --> 04:03:41,720
MEN AND WOMEN. BLACK AMERICAN

6429
04:03:41,720 --> 04:03:43,440
WOMEN HAVE MORE SEVERE AND

6430
04:03:43,440 --> 04:03:45,440
CHRONIC FORMS OF SARCOIDOSIS AND

6431
04:03:45,440 --> 04:03:47,480
HIGHER RATES OF HOSPITALIZATION

6432
04:03:47,480 --> 04:03:48,760
AND MORTALITY. IT WOULD BE A

6433
04:03:48,760 --> 04:03:50,000
VALUE ADD TO THE CLINICAL TRIALS

6434
04:03:50,000 --> 04:03:52,440
TO HAVE EACH COMMUNITY PROPERLY

6435
04:03:52,440 --> 04:03:54,560
REPRESENTED ESPECIALLY THOSE

6436
04:03:54,560 --> 04:03:57,440
COMMUNITIES THAT SUFFER GREATER

6437
04:03:57,440 --> 04:03:59,480
HEALTH OUTCOMES. WHAT WE WANT TO

6438
04:03:59,480 --> 04:04:07,040
DO IS ACTUALLY GET PATIENTS TO

6439
04:04:07,040 --> 04:04:10,800
THE BRIDGE OR GATEWAY AND MEET

6440
04:04:10,800 --> 04:04:12,280
PHARMACEUTICAL COMPANIES WHERE

6441
04:04:12,280 --> 04:04:13,800
THEY WILL UNDERSTAND THAT TO

6442
04:04:13,800 --> 04:04:17,000
HAVE EACH COMMUNITY PROPERLY

6443
04:04:17,000 --> 04:04:19,760
REPRESENTED ESPECIALLY THOSE

6444
04:04:19,760 --> 04:04:21,600
LIKE BLACK WOMEN WHO SUFFER MORE

6445
04:04:21,600 --> 04:04:23,600
BARRIERS TO TREATMENT. THEY WILL

6446
04:04:23,600 --> 04:04:25,680
HAVE A BETTER CLINICAL TRIALS.

6447
04:04:25,680 --> 04:04:27,480
ONLY 20% HEALTH OUTCOMES ARE

6448
04:04:27,480 --> 04:04:28,480
DETERMINED BY SERVICES YOU

6449
04:04:28,480 --> 04:04:30,880
RECEIVE FROM YOUR P PCP AND

6450
04:04:30,880 --> 04:04:32,080
WITHIN THE CONFINES OF A

6451
04:04:32,080 --> 04:04:35,200
HOSPITAL. # 0% OF YOUR -- 80%

6452
04:04:35,200 --> 04:04:37,760
ARE DETERMINED BY DEMOGRAPHICS.

6453
04:04:37,760 --> 04:04:38,760
BLACK WOMEN NAVIGATE RACIAL

6454
04:04:38,760 --> 04:04:39,360
BARRIERS STEMMING FROM IMMR. I

6455
04:04:39,360 --> 04:04:41,960
SIT AND EXPLICIT BIASES ROOTED

6456
04:04:41,960 --> 04:04:43,520
IN STEREOTYPES AND

6457
04:04:43,520 --> 04:04:48,280
MISINFORMATION. AS WELL AS

6458
04:04:48,280 --> 04:04:49,960
FACTORS SUCH AS LOCATION OF HE

6459
04:04:49,960 --> 04:04:50,640
WANT EMPLOYMENT, TYPES OF

6460
04:04:50,640 --> 04:04:52,000
INSURANCE, WHO WORKS AT THE

6461
04:04:52,000 --> 04:04:54,480
CLINIC AND GENDER LAYER BARRIERS

6462
04:04:54,480 --> 04:04:56,680
STEMMING FROM INEQUITIES. 

6463
04:04:56,680 --> 04:04:58,560
LAVESLY THERE ARE SOCIOECONOMIC

6464
04:04:58,560 --> 04:04:59,680
BURDENS BECAUSE BLACK WOMEN --

6465
04:04:59,680 --> 04:05:01,720
WE ARE STILL SIGNIFICANTLY

6466
04:05:01,720 --> 04:05:03,400
UNDERVALUED AND MAKE NOTICEABLY

6467
04:05:03,400 --> 04:05:06,080
LESS THAN OTHER ETHNIC GROUPS.

6468
04:05:06,080 --> 04:05:08,320
LOWER SOCIOECONOMIC STATUS WITH

6469
04:05:08,320 --> 04:05:11,120
INCOME, EMPLOYMENT OR EDUCATION

6470
04:05:11,120 --> 04:05:13,480
CAN RESULT IN DECREASE ACCESS TO

6471
04:05:13,480 --> 04:05:15,480
CARE OR CARE SPECIALIST. LACK OF

6472
04:05:15,480 --> 04:05:16,880
ACCESS TO MEDICATION, LACK OF

6473
04:05:16,880 --> 04:05:19,160
INSURANCE, SEVERE CHALLENGES

6474
04:05:19,160 --> 04:05:21,200
WERE BEING CONSISTENT WITH YOUR

6475
04:05:21,200 --> 04:05:23,000
APPOINTMENTS DUE TO

6476
04:05:23,000 --> 04:05:24,520
TRANSPORTATION, AND POOR

6477
04:05:24,520 --> 04:05:27,080
PROVIDERS PATIENT COMMUNICATION.

6478
04:05:27,080 --> 04:05:28,520
THOSE IN RESEARCH AND

6479
04:05:28,520 --> 04:05:29,760
PHARMACEUTICAL SPACES IMMEDIATE

6480
04:05:29,760 --> 04:05:31,960
TO CONSIDER HAVING DIVERSE

6481
04:05:31,960 --> 04:05:33,320
CLINICAL TRIALS AND AS A GATEWAY

6482
04:05:33,320 --> 04:05:36,520
TO LEARN MORE ABOUT

6483
04:05:36,520 --> 04:05:37,960
ACCESSIBILITY, AFFORDABILITY AND

6484
04:05:37,960 --> 04:05:39,880
THE POSSIBLY MONETARY BURDEN

6485
04:05:39,880 --> 04:05:42,640
ASSOCIATED WITH LONG TERM USE OF

6486
04:05:42,640 --> 04:05:44,560
DRUG SOLUTION FOR EVERY ETHNIC

6487
04:05:44,560 --> 04:05:46,560
COMMUNITY. FOR EXAMPLE IF A

6488
04:05:46,560 --> 04:05:48,240
WORKING BLACK AMERICAN MOTHER

6489
04:05:48,240 --> 04:05:51,240
HAS AGGRESSIVELY ACTIVE

6490
04:05:51,240 --> 04:05:52,200
SARCOIDOSIS, HOW CAN YOU MAKE

6491
04:05:52,200 --> 04:05:54,280
THE TRIAL ACCESSIBLE TO HER

6492
04:05:54,280 --> 04:05:55,280
WITHOUT TRANSPORTATION BURDEN?

6493
04:05:55,280 --> 04:05:56,760
HOW CAN THE DRUG BE DEVELOPED SO

6494
04:05:56,760 --> 04:05:59,800
IT IS NOT COST PROHIBITIVE? AND

6495
04:05:59,800 --> 04:06:02,040
WILL DRUG CHALLENGES BE EASILY

6496
04:06:02,040 --> 04:06:03,480
SOMATIC WITH EVERY DAY LIVING?

6497
04:06:03,480 --> 04:06:05,480
WHAT IS THE LEAD TIME FOR THE

6498
04:06:05,480 --> 04:06:09,720
DRUG TO KIKE -- KICK IN FOR

6499
04:06:09,720 --> 04:06:11,480
QUALITY OF LIFE IMPROVEMENT TO

6500
04:06:11,480 --> 04:06:13,520
BE FELT. ALL THESE PERMUTATIONS

6501
04:06:13,520 --> 04:06:15,720
AN OUTCOMES SHOULD BE EXPLORED

6502
04:06:15,720 --> 04:06:18,080
AND THAT IS WHY I SOUND LIKE A

6503
04:06:18,080 --> 04:06:20,080
BROKEN RECORD, FAIR TO HAVE ALL

6504
04:06:20,080 --> 04:06:21,520
COMMUNITIES REPRESENTED. MORE

6505
04:06:21,520 --> 04:06:22,520
IMPORTANTLY IT IS CRITICAL TO

6506
04:06:22,520 --> 04:06:24,760
HAVE THE IMMUNITY MOST ADVERSELY

6507
04:06:24,760 --> 04:06:26,320
EFFECTED REPRESENTED IN THE

6508
04:06:26,320 --> 04:06:29,920
TRIAL. MY THOUGHT PROCESS, HEART

6509
04:06:29,920 --> 04:06:32,320
FELT IS IF YOU TREAT MOST

6510
04:06:32,320 --> 04:06:33,680
VULNERABLE OF THOSE SUFFERING

6511
04:06:33,680 --> 04:06:34,880
FROM DISEASE IT BENEFITS ALL THE

6512
04:06:34,880 --> 04:06:37,120
PATIENTS WITH THE DISEASE.

6513
04:06:37,120 --> 04:06:42,480
>> SO GREAT, ERICA AND THAT

6514
04:06:42,480 --> 04:06:44,320
HONES IN ON THE KEY MESSAGE TO

6515
04:06:44,320 --> 04:06:45,960
PHARMACEUTICAL COMPANIES OR

6516
04:06:45,960 --> 04:06:47,880
BIOTECH TUNING IN TODAY LOOKING

6517
04:06:47,880 --> 04:06:50,040
TO RUN CLINICAL TRIALS IN RARE

6518
04:06:50,040 --> 04:06:52,680
DISEASE SPACE, REALLY SUCH AN

6519
04:06:52,680 --> 04:06:54,680
IMPORTANT MESSAGE ON THESE

6520
04:06:54,680 --> 04:06:56,480
CONSIDERATIONS THAT ERICA

6521
04:06:56,480 --> 04:07:00,920
REVIEWED. THANK YOU. BEFORE WE

6522
04:07:00,920 --> 04:07:03,560
END OUR SESSION I LIKE EACH OF

6523
04:07:03,560 --> 04:07:05,880
THE PANEL MEMBERS TO REALLY

6524
04:07:05,880 --> 04:07:07,880
TOUCH ON WHAT ARE THE LESSONINGS

6525
04:07:07,880 --> 04:07:09,840
LEARNED THAT INDUSTRY AND

6526
04:07:09,840 --> 04:07:11,080
ADVOCACY ORGANIZATIONS, SHOULD

6527
04:07:11,080 --> 04:07:14,880
BE AWARE OF TO ENSURE SUCCESSFUL

6528
04:07:14,880 --> 04:07:17,840
CLINICAL TRIALS RECRUITMENT. WE

6529
04:07:17,840 --> 04:07:22,680
CAN START WITH DR. SHUKLA.

6530
04:07:22,680 --> 04:07:24,640
>> CLEARLY GETTING INVOLVED

6531
04:07:24,640 --> 04:07:26,000
EARLY, CONSIDER SCARY TO DO

6532
04:07:26,000 --> 04:07:28,640
THAT, YOU MAY GET FEEDBACK YOU

6533
04:07:28,640 --> 04:07:30,000
MIGHT NOT LIKE, YOU MAY NOT FIT

6534
04:07:30,000 --> 04:07:31,760
A DEVELOPMENT PLAN YOU WORKED

6535
04:07:31,760 --> 04:07:32,680
OUT BUT GETTING INVOLVED EARLY

6536
04:07:32,680 --> 04:07:36,080
IS REALLY IMPORTANT. ALSO

6537
04:07:36,080 --> 04:07:39,240
UNDERSTANDING THAT WHEN YOU ARE

6538
04:07:39,240 --> 04:07:42,120
IN RARE DISEASE, TRICHA YOU SAID

6539
04:07:42,120 --> 04:07:43,880
THIS, THE COORDINATORS I THINK

6540
04:07:43,880 --> 04:07:46,320
WOULD HELP WITH FSR HAVING A

6541
04:07:46,320 --> 04:07:48,240
CLINICAL TRIAL NETWORK,

6542
04:07:48,240 --> 04:07:50,080
CONSORTIUM PEOPLE THAT REALLY

6543
04:07:50,080 --> 04:07:54,000
DEDICATED AT TRIAL SITE THAT WAS

6544
04:07:54,000 --> 04:07:55,560
HUGE. THAT IS SOMETHING I WANT

6545
04:07:55,560 --> 04:07:57,880
TO HIGHLIGHT HERE. THE LAST

6546
04:07:57,880 --> 04:07:59,680
COMPONENT HERE IS SPEAKING FOR

6547
04:07:59,680 --> 04:08:01,720
THE INDUSTRY SIDE, UNDERSTAND

6548
04:08:01,720 --> 04:08:03,400
THAT WHEN YOU ARE WORKING IN

6549
04:08:03,400 --> 04:08:08,320
RARE DISEASE, HOPE IS REAL

6550
04:08:08,320 --> 04:08:09,680
POWERFUL TOOL BUT ALSO SOMETHING

6551
04:08:09,680 --> 04:08:12,560
THAT COMES WITH A LOT OF -- YOU

6552
04:08:12,560 --> 04:08:15,360
HAVE TO BE CAREFUL ABOUT IT

6553
04:08:15,360 --> 04:08:18,920
WHICH MEANS BEING TRANSPARENT

6554
04:08:18,920 --> 04:08:21,280
ABOUT WHAT YOUR DRUG IS

6555
04:08:21,280 --> 04:08:23,360
POTENTIALLY DOING. HAVING THOSE

6556
04:08:23,360 --> 04:08:26,040
-- THAT DIALOGUE WITH PATIENTS

6557
04:08:26,040 --> 04:08:27,880
PROVIDERS, ADVOCACY GROUPS LIKE

6558
04:08:27,880 --> 04:08:30,680
FSR REALLY UNDERSTANDING WORKING

6559
04:08:30,680 --> 04:08:32,240
WITH THEM BECAUSE I THINK IT IS

6560
04:08:32,240 --> 04:08:36,080
VERY IMPORTANT FOR US TO NOT

6561
04:08:36,080 --> 04:08:38,920
TRADE ON THAT HOPE. WE HAVE A

6562
04:08:38,920 --> 04:08:39,840
RESPONSIBILITY TO SAY WE ARE

6563
04:08:39,840 --> 04:08:42,920
GOING TO DO THIS CAREFULLY. .

6564
04:08:42,920 --> 04:08:46,120
AND TEST THINGS RIGOROUSLY IN A

6565
04:08:46,120 --> 04:08:48,240
MANNER THAT IS MOST IMPORTANT

6566
04:08:48,240 --> 04:08:51,680
FRANKLY FOR THE PATIENTS WHICH

6567
04:08:51,680 --> 04:08:54,760
IS I THINK WAS OUR APPROACH, WE

6568
04:08:54,760 --> 04:08:56,400
PROBABLY STILL GET CRITICISM

6569
04:08:56,400 --> 04:08:57,960
ABOUT IT. BUT THAT IS OKAY

6570
04:08:57,960 --> 04:08:59,600
BECAUSE I THINK OUR OUTCOME

6571
04:08:59,600 --> 04:09:05,440
WOULDN'T BE AS DRAY MAT INK

6572
04:09:05,440 --> 04:09:06,960
UNLESS WE TOOK A COLLABORATIVE

6573
04:09:06,960 --> 04:09:08,960
APPROACH. I HOPE IT IS A MODEL

6574
04:09:08,960 --> 04:09:11,840
FOR OTHER ORGANIZATIONS REALLY

6575
04:09:11,840 --> 04:09:12,920
THINK ABOUT WORKING WITH GROUPS

6576
04:09:12,920 --> 04:09:16,600
LIKE FSR, REALLY EARLY ON

6577
04:09:16,600 --> 04:09:19,680
UNDERSTANDING RESPONSIBILITY TO

6578
04:09:19,680 --> 04:09:21,680
HAVE AND HELPS IF THERE IS ALSO

6579
04:09:21,680 --> 04:09:25,520
TIGHT MET WORK. 

6580
04:09:25,520 --> 04:09:27,360
>> TRICHA.

6581
04:09:27,360 --> 04:09:29,720
>> THANK YOU SO MUCH, I WANT TO

6582
04:09:29,720 --> 04:09:32,000
ECHO WHAT DR. SHUKLA SAID WITH

6583
04:09:32,000 --> 04:09:34,560
REGARD TO HOPE. HOPE IS VITALLY

6584
04:09:34,560 --> 04:09:37,240
IMPORTANT AND IT DOES NEED TO BE

6585
04:09:37,240 --> 04:09:39,680
TREATED WITH KID GLOVES AND BE

6586
04:09:39,680 --> 04:09:41,560
CAREFUL BECAUSE IT IS A CENTRAL

6587
04:09:41,560 --> 04:09:43,000
PIECE TO WHAT HELPS PATIENTS GET

6588
04:09:43,000 --> 04:09:45,560
THROUGH EVERY DAY, WHEN LIVING

6589
04:09:45,560 --> 04:09:47,800
WITH SEVERE CHRONIC ILLNESSES.

6590
04:09:47,800 --> 04:09:49,240
SO ONE OF THE THINGS I THINK FOR

6591
04:09:49,240 --> 04:09:50,880
PATIENT ADVOCACY ORGANIZATIONS

6592
04:09:50,880 --> 04:09:52,840
AS YOU ARE LOOKING AT THIS, IS

6593
04:09:52,840 --> 04:09:58,360
TO HELP PEOPLE UNDERSTAND THAT

6594
04:09:58,360 --> 04:10:00,120
CLINICAL TRIALS ARE HOPE AND

6595
04:10:00,120 --> 04:10:00,720
EVEN WHETHER OR NOT A CLINICAL

6596
04:10:00,720 --> 04:10:02,080
TRIAL IS SUCCESSFUL, THE HOPE IS

6597
04:10:02,080 --> 04:10:04,400
IN THE LEARNINGS. AND THE HOPE

6598
04:10:04,400 --> 04:10:05,280
ISN'T ALWAYS IN THE OUTCOME. 

6599
04:10:05,280 --> 04:10:06,640
AND THAT IS A BIG PART OF THE

6600
04:10:06,640 --> 04:10:09,720
EDUCATION AND THE ROLE THAT WE

6601
04:10:09,720 --> 04:10:11,400
PLAY, IN THE ADVOCACY

6602
04:10:11,400 --> 04:10:12,360
ORGANIZATION TO HELP UNDERSTAND

6603
04:10:12,360 --> 04:10:14,040
WE CAN BUILD ON LEARNINGS

6604
04:10:14,040 --> 04:10:15,360
REGARDLESS WHETHER A TRIAL IS

6605
04:10:15,360 --> 04:10:17,400
SUCCESSFUL OR NOT, WE CAN BUILD

6606
04:10:17,400 --> 04:10:18,560
LEARNINGS AND MOVE TOWARDS

6607
04:10:18,560 --> 04:10:23,520
BETTER FUTURE. AGAIN THEY DID A

6608
04:10:23,520 --> 04:10:25,720
WONDERFUL JOB AND HAD A

6609
04:10:25,720 --> 04:10:26,520
SUCCESSFUL TRIAL BUT WHETHER

6610
04:10:26,520 --> 04:10:27,880
THAT -- THIS TRIAL WAS

6611
04:10:27,880 --> 04:10:29,000
SUCCESSFUL OR NOT THERE WAS

6612
04:10:29,000 --> 04:10:29,680
LEARNINGS THEY WOULD HAVE BEEN

6613
04:10:29,680 --> 04:10:33,400
ABLE TO BUILD ON. AND THAT IS

6614
04:10:33,400 --> 04:10:35,200
WHERE HOPE LIES SO I THANK YOU

6615
04:10:35,200 --> 04:10:36,480
DR. SHUKLA FOR BRINGING THAT UP,

6616
04:10:36,480 --> 04:10:38,480
IT IS REALLY IMPORTANT TO MAKE

6617
04:10:38,480 --> 04:10:40,400
SURE THAT WE TREAT THAT HOPE

6618
04:10:40,400 --> 04:10:43,680
CAREFULLY. IF I COULD ONLY

6619
04:10:43,680 --> 04:10:45,920
PROVIDE ONE TAKE AWAY TO THE

6620
04:10:45,920 --> 04:10:47,960
INDUSTRY AND ONE TAKE AWAY TO

6621
04:10:47,960 --> 04:10:53,960
ADVOCACY, I GUESS I WOULD SAY TO

6622
04:10:53,960 --> 04:10:56,440
INDUSTRY IT IS IMPORTANT TO MAKE

6623
04:10:56,440 --> 04:10:58,360
SURE WE BRING IN ADVOCACY

6624
04:10:58,360 --> 04:10:59,680
ORGANIZATIONS EARLY AND THAT THE

6625
04:10:59,680 --> 04:11:02,280
COMMUNICATION WITH THE ADVOCACY

6626
04:11:02,280 --> 04:11:03,240
ORGANIZATIONS IS EVERY STEP OF

6627
04:11:03,240 --> 04:11:09,760
THE WAY. NOT JUST A QUICK EARLY

6628
04:11:09,760 --> 04:11:12,080
CHECK SEE WHERE YOU ARE AND

6629
04:11:12,080 --> 04:11:13,800
LATER ON A CHECK BUT KEEPING THE

6630
04:11:13,800 --> 04:11:14,680
ADVOCACY ORGANIZATIONS INVOLVED

6631
04:11:14,680 --> 04:11:16,080
AND HAVING THAT CONSTANT

6632
04:11:16,080 --> 04:11:17,880
COMMUNICATION. AND FOR FOR THE

6633
04:11:17,880 --> 04:11:19,440
ADVOCACY ORGANIZATIONS I WOULD

6634
04:11:19,440 --> 04:11:21,800
SAY RAISE YOUR HAND. RAISE YOUR

6635
04:11:21,800 --> 04:11:24,440
VOICE AND BE HEARD. IT IS

6636
04:11:24,440 --> 04:11:26,440
IMPORTANT TO EXPLAIN AND LET THE

6637
04:11:26,440 --> 04:11:27,240
PHARMACEUTICAL COMPANIES KNOW

6638
04:11:27,240 --> 04:11:30,000
YOU ARE HERE YOU ARE SUPPORTING

6639
04:11:30,000 --> 04:11:33,960
THEIR EFFORTS TO SUPPORT YOUR

6640
04:11:33,960 --> 04:11:35,080
COMMUNITY, AND YOU WANTED HEM TO

6641
04:11:35,080 --> 04:11:36,760
HEAR WHAT THE PATIENTS NEED TO

6642
04:11:36,760 --> 04:11:39,000
SAY. IT IS ESSENTIAL FOR

6643
04:11:39,000 --> 04:11:40,120
INDUSTRY AND ADVOCACY

6644
04:11:40,120 --> 04:11:41,680
ORGANIZATIONS TO HAVE THIS TRUE

6645
04:11:41,680 --> 04:11:43,240
PARTNERSHIP IN THE PROCESS. AS

6646
04:11:43,240 --> 04:11:44,360
WE WERE TALKING ABOUT BEFORE AND

6647
04:11:44,360 --> 04:11:45,720
I THINK THIS IS REALLY THE TAKE

6648
04:11:45,720 --> 04:11:47,680
HOME FROM MY PERSPECTIVE, IF YOU

6649
04:11:47,680 --> 04:11:49,480
WANT TO BUILD TRUST IT HAS TO BE

6650
04:11:49,480 --> 04:11:51,800
DONE TOGETHER. 

6651
04:11:51,800 --> 04:11:52,320
>> THANK YOU

6652
04:11:52,320 --> 04:11:57,280
>> TRICHA. ERIKA, HOW ABOUT YOU?

6653
04:11:57,280 --> 04:12:01,480
>> MY BIG TAKE AWAY IS PATIENTS

6654
04:12:01,480 --> 04:12:02,600
EXPERIENCE IS IS IT VALUABLE TO

6655
04:12:02,600 --> 04:12:06,040
HELPING RESEARCHERS AND

6656
04:12:06,040 --> 04:12:08,360
PHARMACEUTICAL COMPANIES CREATE

6657
04:12:08,360 --> 04:12:09,800
SOLUTIONS FOR RARE DISEASES, IT

6658
04:12:09,800 --> 04:12:12,520
IS CRITICAL TO BE INTENTIONAL,

6659
04:12:12,520 --> 04:12:14,600
BRINGING PATIENTS IN WITH

6660
04:12:14,600 --> 04:12:15,960
DIVERSE BACKGROUNDS TO THE

6661
04:12:15,960 --> 04:12:17,720
TABLE, AS A BLACK AMERICAN WOMAN

6662
04:12:17,720 --> 04:12:20,960
LIVING WITH SARCOIDOSIS A

6663
04:12:20,960 --> 04:12:22,240
CONSIDER A CLINICAL TRIAL THAT

6664
04:12:22,240 --> 04:12:23,800
WAS ACCESS ACCESSIBLE, IN

6665
04:12:23,800 --> 04:12:25,280
MULTIPLE LOCATIONS THAT HAD

6666
04:12:25,280 --> 04:12:26,480
CONSISTENT CHECK INs FOR

6667
04:12:26,480 --> 04:12:28,640
PATIENTS TO DISCUSS NOT ONLY

6668
04:12:28,640 --> 04:12:30,600
THEIR REACTION TO THE DRUG BUT

6669
04:12:30,600 --> 04:12:33,320
THEIR MENTAL HEALTH STATUS WHILE

6670
04:12:33,320 --> 04:12:35,040
GOING THROUGH THE TRIAL AND THE

6671
04:12:35,040 --> 04:12:37,880
PROCESS. AND BE READY TO ENGAGE

6672
04:12:37,880 --> 04:12:39,760
IN TRIAL AS A STAKEHOLDER AND

6673
04:12:39,760 --> 04:12:41,200
READILY ACKNOWLEDGE DISPARITIES

6674
04:12:41,200 --> 04:12:43,320
AND CARE IN TREATMENT FROM MY

6675
04:12:43,320 --> 04:12:45,360
RACIAL ETHNIC COMMUNITY. AND I

6676
04:12:45,360 --> 04:12:47,400
WANT TO PARTICIPATE IN IN A

6677
04:12:47,400 --> 04:12:48,760
CLINICAL TRIAL WHERE I WAS MORE

6678
04:12:48,760 --> 04:12:50,800
THAN A DATA POINT, I WAS SEEN AS

6679
04:12:50,800 --> 04:12:53,880
TRUE PARTNER IN PROCESS TO

6680
04:12:53,880 --> 04:12:55,560
IMPROVE QUALITY OF LIFE OF THOSE

6681
04:12:55,560 --> 04:12:57,680
LIVING WITH SARCOIDOSIS.

6682
04:12:57,680 --> 04:12:59,000
THEREFORE IT IS IMPERATIVE THAT

6683
04:12:59,000 --> 04:13:01,480
ALL COMMUNITIES ARE REPRESENTED

6684
04:13:01,480 --> 04:13:03,880
AND ALL DISPARITIES CONSIDERED. 

6685
04:13:03,880 --> 04:13:08,080
>> GREAT. THANK YOU, ERICA.

6686
04:13:08,080 --> 04:13:11,240
THANK YOU, DR. SHUKLA, TRICHA

6687
04:13:11,240 --> 04:13:13,360
AND ALL WHO JOINED TODAY. WE

6688
04:13:13,360 --> 04:13:15,520
CERTAINLY HAD CHALLENGING TIMES

6689
04:13:15,520 --> 04:13:18,920
WITH THE PANDEMIC. LOTS OF GREAT

6690
04:13:18,920 --> 04:13:21,360
LESSONS HERE TODAY AND ADVICE

6691
04:13:21,360 --> 04:13:22,360
FOR CLINICAL TRIAL RECRUITMENT

6692
04:13:22,360 --> 04:13:25,160
SUCCESS MANY THE FUTURE. WE HAVE

6693
04:13:25,160 --> 04:13:27,720
TO REMEMBER IT IS SO IMPORTANT

6694
04:13:27,720 --> 04:13:31,280
TO UNDERSTAND ALL STAKEHOLDERS.

6695
04:13:31,280 --> 04:13:33,200
PATIENTS, PATIENT ADVOCATES, THE

6696
04:13:33,200 --> 04:13:35,280
ENTIRE COMMUNITY WHICH ALSO

6697
04:13:35,280 --> 04:13:36,800
INCLUDES CAREGIVERS AND CARE

6698
04:13:36,800 --> 04:13:40,080
PARTNERS. THEY ARE ALL SUCH

6699
04:13:40,080 --> 04:13:41,160
IMPORTANT STAKEHOLDERS IN THE

6700
04:13:41,160 --> 04:13:44,320
RARE DISEASE SPACE.  FOR

6701
04:13:44,320 --> 04:13:48,280
SUCCESSFUL DRUG DEVELOPMENT.

6702
04:13:48,280 --> 04:13:50,280
FEEL FREE TO REACH OUT TO US

6703
04:13:50,280 --> 04:13:51,600
DIRECTLY WITH ANY QUESTIONS YOU

6704
04:13:51,600 --> 04:13:53,400
MAY HAVE AND THANK YOU AGAIN FOR

6705
04:13:53,400 --> 04:14:07,880
JOINING OUR SESSION. 

6706
04:14:07,880 --> 04:14:11,480
>> I'M EXECUTIVE DIRECTOR OF THE

6707
04:14:11,480 --> 04:14:12,680
CURE JM FOUNDATION AND HONORED

6708
04:14:12,680 --> 04:14:15,280
TO BE YOUR HOST AT NIH. OUR

6709
04:14:15,280 --> 04:14:17,800
OBJECTIVE TODAY IS TO SHARE WITH

6710
04:14:17,800 --> 04:14:19,800
YOU THE STORY HOW ONE SMALL RARE

6711
04:14:19,800 --> 04:14:21,880
DISEASE ORGANIZATION THAT FUNDS

6712
04:14:21,880 --> 04:14:22,800
RESEARCH TO FIND BETTER

6713
04:14:22,800 --> 04:14:25,000
TREATMENTS AND A CURE HAS HAD AN

6714
04:14:25,000 --> 04:14:27,400
OUTSIZED IMPACT IN PART TO

6715
04:14:27,400 --> 04:14:28,640
CREATING EFFECTIVE PARTNERSHIPS

6716
04:14:28,640 --> 04:14:32,160
WITH LEADING RESEARCH HOSPITALS

6717
04:14:32,160 --> 04:14:34,120
AND MOST FLOAT WITH NIH. I WILL

6718
04:14:34,120 --> 04:14:35,880
START WITH A ONE MINUTE

6719
04:14:35,880 --> 04:14:37,080
BACKGROUND OF WHO WE ARE AND HOW

6720
04:14:37,080 --> 04:14:40,120
WE EVOLVED TO WHERE WE ARE

6721
04:14:40,120 --> 04:14:44,080
TODAY. WE WERE CREATED BY A

6722
04:14:44,080 --> 04:14:45,080
SMALL GROUP OF PARENTS AND GRAND

6723
04:14:45,080 --> 04:14:46,680
PARENTS IN 2003 TO ADDRESS THE

6724
04:14:46,680 --> 04:14:50,000
FACT THAT VERY LITTLE WAS

6725
04:14:50,000 --> 04:14:51,560
UNDERSTOOD ABOUT JUVENILE

6726
04:14:51,560 --> 04:14:53,520
MYOSITIS. A DEVASTATING

6727
04:14:53,520 --> 04:14:55,280
AUTOIMMUNE DISEASE WHERE BODY

6728
04:14:55,280 --> 04:14:57,720
IMMUNE SYSTEM ATTACKS ITS OWN

6729
04:14:57,720 --> 04:15:02,040
CELLS AND TISSUES. THROUGH JJM

6730
04:15:02,040 --> 04:15:03,360
MISSION THEN AROUND NOW IS TO

6731
04:15:03,360 --> 04:15:05,800
FIND BETTER MISSION FOR JM

6732
04:15:05,800 --> 04:15:07,920
AROUND SUPPORT FAMILIES LIVERING

6733
04:15:07,920 --> 04:15:09,280
WITH JUVENILE MYOSITIS. WHERE

6734
04:15:09,280 --> 04:15:11,080
DOES ONE START AT VIRTUAL GROUND

6735
04:15:11,080 --> 04:15:12,960
ZERO? WE KNEW WE HAD TO

6736
04:15:12,960 --> 04:15:14,120
ACCOMPLISH THREE OBJECTIVES IF

6737
04:15:14,120 --> 04:15:16,880
WE WERE TO BE SUCCESSFUL. FIRST

6738
04:15:16,880 --> 04:15:19,720
WE HAD TO RECRUIT OTHER FAMILIES

6739
04:15:19,720 --> 04:15:21,440
AND INVOLVE AND CURE JM'S WORK

6740
04:15:21,440 --> 04:15:22,760
BECAUSE THERE IS STRENGTH IN

6741
04:15:22,760 --> 04:15:25,040
NUMBERS AND HAVING EACH OTHER

6742
04:15:25,040 --> 04:15:27,720
FOR SUPPORT. SECOND WE HAD TO

6743
04:15:27,720 --> 04:15:29,440
BRING WHATEVER MEDICAL AND

6744
04:15:29,440 --> 04:15:31,680
RESEARCH EXPERTS WE COULD FIND

6745
04:15:31,680 --> 04:15:33,760
INSIDE OUR TENT. IN 2003 THERE

6746
04:15:33,760 --> 04:15:35,520
WERE ONLY VERY FEW OF THEM BUT

6747
04:15:35,520 --> 04:15:37,480
WE WERE FORTUNATE IN OUR EARLY

6748
04:15:37,480 --> 04:15:46,240
YEARS TO FIND TWO OF THEM, DR.

6749
04:15:46,240 --> 04:15:49,600
LAUREN LISA RIDER WITH DR. FRED

6750
04:15:49,600 --> 04:15:51,640
RIDER HERE AT NIH. WE NEEDED TO

6751
04:15:51,640 --> 04:15:53,880
CREATE LASTING SUSTAINABLE

6752
04:15:53,880 --> 04:15:55,080
PARTNERSHIPS WITH INSTITUTIONS

6753
04:15:55,080 --> 04:15:57,240
LIKE THE NIH, TO LEVERAGE THE

6754
04:15:57,240 --> 04:16:00,160
ENORMOUS RESEARCH CAPACITY THAT

6755
04:16:00,160 --> 04:16:01,840
THEY HAVE. WHAT WE DIDN'T KNOW

6756
04:16:01,840 --> 04:16:04,400
AT LEAST AT THE TIME WAS THE

6757
04:16:04,400 --> 04:16:06,560
EXTRAORDINARY PERSONAL AND

6758
04:16:06,560 --> 04:16:08,240
PROFESSIONAL COMMITMENT NIH

6759
04:16:08,240 --> 04:16:11,680
RESEARCHERS AND CLINICIANS BRING

6760
04:16:11,680 --> 04:16:14,240
TO YOU ARE RARE DISEASE CAUSE.

6761
04:16:14,240 --> 04:16:15,680
WHICH BRINGS US TO THE FIRST

6762
04:16:15,680 --> 04:16:17,680
PRESENTER DR. LISA RIDER. DR.

6763
04:16:17,680 --> 04:16:19,880
RIDER IS HEAD OF ENVIRONMENTAL

6764
04:16:19,880 --> 04:16:21,240
AUTO-IMMUNITY GROUP AT THE

6765
04:16:21,240 --> 04:16:22,560
NATIONAL INSTITUTE OF

6766
04:16:22,560 --> 04:16:24,680
ENVIRONMENTAL HEALTH SCIENCES AT

6767
04:16:24,680 --> 04:16:28,320
NIH IN BETHESDA, MARYLAND. DR.

6768
04:16:28,320 --> 04:16:30,480
RIDE IRWAS EARLY PIONEER IN

6769
04:16:30,480 --> 04:16:32,280
MYOSITIS RESEARCH AND IS ONE OF

6770
04:16:32,280 --> 04:16:36,000
THE WORLD'S FOREMOST ZYSIGHTIS

6771
04:16:36,000 --> 04:16:39,600
EX-- MYOSITIS EXPERTS. IN OF OUR

6772
04:16:39,600 --> 04:16:40,480
FAMILIES, NO EXAGGERATION,

6773
04:16:40,480 --> 04:16:41,920
CREDIT DR. RIDER WITH SAVING THE

6774
04:16:41,920 --> 04:16:45,960
LIVES OF THEIR CHILDREN. HERE TO

6775
04:16:45,960 --> 04:16:47,400
SHARE WITH YOU HER PERSPECTIVE

6776
04:16:47,400 --> 04:16:50,360
ON THE CURE JM NIH PARTNERSHIP

6777
04:16:50,360 --> 04:17:04,400
IS DR. LISA RIDER.  

6778
04:17:04,400 --> 04:17:07,960
>> THANK YOU, JIM FOR THAT WARM

6779
04:17:07,960 --> 04:17:08,880
INTRODUCTION. GREAT PLEASURE TO

6780
04:17:08,880 --> 04:17:11,720
JOIN WITH YOU TODAY IN THIS NIH

6781
04:17:11,720 --> 04:17:15,280
RARE DISEASE DAY SESSION. TO

6782
04:17:15,280 --> 04:17:17,720
REVIEW OUR ENVIRONMENTAL

6783
04:17:17,720 --> 04:17:20,560
IMMUNITY GROUP HAS FOCUSED ON

6784
04:17:20,560 --> 04:17:21,440
UNDERSTANDING ROLE OF

6785
04:17:21,440 --> 04:17:23,080
ENVIRONMENT AND GENES DISEASE

6786
04:17:23,080 --> 04:17:24,640
MECHANISMS AND THE ASSESSMENT

6787
04:17:24,640 --> 04:17:28,120
AND TREATMENT OF MYOSITIS AND

6788
04:17:28,120 --> 04:17:29,360
OTHER SYSTEMIC AUTOIMMUNE

6789
04:17:29,360 --> 04:17:31,880
DISEASES IN ADULTS AND CHILDREN.

6790
04:17:31,880 --> 04:17:33,560
OUR GOAL HAS BEEN TO DEVELOP

6791
04:17:33,560 --> 04:17:37,480
TARGETED THERAPIES DIRECTED TO

6792
04:17:37,480 --> 04:17:38,880
PATHOMECHANISMS OF DISEASE

6793
04:17:38,880 --> 04:17:41,880
PHENOTYPES WITH A PROMISE OF

6794
04:17:41,880 --> 04:17:43,520
INHIBITING THE EFFECT OF

6795
04:17:43,520 --> 04:17:45,280
DIFFERENT ENVIRONMENTAL FACTORS.

6796
04:17:45,280 --> 04:17:47,120
WE HAVE DONE A NUMBER OF STUDIES

6797
04:17:47,120 --> 04:17:49,120
HERE AT THE NIH CLINICAL CENTER

6798
04:17:49,120 --> 04:17:51,240
IN BETHESDA, INCLUDING SEVERAL

6799
04:17:51,240 --> 04:17:53,560
NATURAL HISTORY STUDIES THAT

6800
04:17:53,560 --> 04:17:55,240
HAVE EXAMINED THE ROLE OF

6801
04:17:55,240 --> 04:18:00,400
ENVIRONMENTAL GENETIC FACTORS ON

6802
04:18:00,400 --> 04:18:01,520
AUTOIMMUNE DISEASE PARTICULARLY

6803
04:18:01,520 --> 04:18:02,840
MYOSITIS AS WELL AS SEVERAL

6804
04:18:02,840 --> 04:18:04,440
TREATMENT STUDIES INCLUDING THAT

6805
04:18:04,440 --> 04:18:07,160
OF RETUXIMAB IN MYOSITIS AND

6806
04:18:07,160 --> 04:18:08,600
BIOLOGIC THERAPY AND CURRENTLY

6807
04:18:08,600 --> 04:18:11,040
ENROLLING STUDY OF IB SODIUM

6808
04:18:11,040 --> 04:18:14,080
SULFATE FOR THE TREATMENT

6809
04:18:14,080 --> 04:18:15,920
OVERCALLS KNOWSIS ASSOCIATED

6810
04:18:15,920 --> 04:18:17,840
WITH JUVENILE NILE AND ADULT

6811
04:18:17,840 --> 04:18:21,120
MYOSITIS. NO WONDER THROUGH THE

6812
04:18:21,120 --> 04:18:23,280
PARTNERSHIP WITH CURE JM MORE

6813
04:18:23,280 --> 04:18:25,080
THAN HALF THE PATIENTS VAN

6814
04:18:25,080 --> 04:18:27,240
PATIENTS WITH JUVENILE MYOSITIS.

6815
04:18:27,240 --> 04:18:30,080
THANKS TO THEIR REFERRALS.

6816
04:18:30,080 --> 04:18:31,880
REALLY THIS PARTNERSHIP WITH

6817
04:18:31,880 --> 04:18:33,800
CURE JM HAS BEEN VIEW MENTAL IN

6818
04:18:33,800 --> 04:18:36,080
EXPANDING OUR FOCUS ON JUVENILE

6819
04:18:36,080 --> 04:18:39,560
MYOSITIS RESEARCH BOTH WITHIN

6820
04:18:39,560 --> 04:18:43,760
EHE AND AT THE NIH. FIRST CURE

6821
04:18:43,760 --> 04:18:46,280
JM SUPPORTED TRAINING AND AND OR

6822
04:18:46,280 --> 04:18:48,840
E RESEARCH OF SEVERAL FOLLOWS

6823
04:18:48,840 --> 04:18:51,400
INCLUDING STARTING WITH NOROVA

6824
04:18:51,400 --> 04:18:54,120
NOW A RESEARCH ASSOCIATE AT

6825
04:18:54,120 --> 04:18:55,680
GEORGE WASHINGTON UNIVERSITY IN

6826
04:18:55,680 --> 04:18:58,880
MYOSITIS CENTER THERE. HANNAH

6827
04:18:58,880 --> 04:19:01,320
KIM WHOSE WORK ON PROTEOMICS AND

6828
04:19:01,320 --> 04:19:02,760
BIOMARKER RESEARCH WAS SUPPORTED

6829
04:19:02,760 --> 04:19:07,840
THROUGH HER WORK IN NIPPLES. AND

6830
04:19:07,840 --> 04:19:10,760
(INDISCERNIBLE) PEDIATRIC

6831
04:19:10,760 --> 04:19:12,320
RHEUMATOLOGIST FROM JAPAN AS

6832
04:19:12,320 --> 04:19:14,080
WELL AS RESEARCH PILLOW WITH ME

6833
04:19:14,080 --> 04:19:17,200
WHO IS NOW AT MEDICAL COLLEGE OF

6834
04:19:17,200 --> 04:19:19,080
WISCONSIN AND MANY OF THESE

6835
04:19:19,080 --> 04:19:20,920
TRAINEES ARE FOCUSED NOW ON

6836
04:19:20,920 --> 04:19:22,880
JUVENILE MYOSITIS RESEARCH AND

6837
04:19:22,880 --> 04:19:27,480
CLINICAL CARE.  CARE JM FUNDED

6838
04:19:27,480 --> 04:19:30,280
SEVERAL KEY COLLABORATIONS IN

6839
04:19:30,280 --> 04:19:34,480
OUR WORK INCLUDING SUPPORT FOR

6840
04:19:34,480 --> 04:19:36,840
INTERNATIONAL MYOSITIS

6841
04:19:36,840 --> 04:19:38,480
CONSORTIUM, CARE J M PROVIDED

6842
04:19:38,480 --> 04:19:40,480
FUNDING FOR WORK OF STUDY OF

6843
04:19:40,480 --> 04:19:46,760
GWAS AND EXOME CHIP IN PATIENTS

6844
04:19:46,760 --> 04:19:52,000
WITH JUVENILE DEMAT TOE

6845
04:19:52,000 --> 04:19:52,880
MYOSITIS, AS WELL AS SEVERAL

6846
04:19:52,880 --> 04:19:55,680
OTHER RISK FACTORS. CURE JM HAS

6847
04:19:55,680 --> 04:19:57,000
MORE RECENTLY FUNDED THE

6848
04:19:57,000 --> 04:19:59,360
POST-DOCTORAL RESEARCH

6849
04:19:59,360 --> 04:20:02,040
FELLOWSHIP OF TRAVIS KINDER

6850
04:20:02,040 --> 04:20:03,280
WITHIN NCATS, THAT GROUP HAS

6851
04:20:03,280 --> 04:20:06,600
GONE ON TO DEVELOP ASSAYS TO

6852
04:20:06,600 --> 04:20:08,360
ASSESS MOLECULAR HALLMARKS OF

6853
04:20:08,360 --> 04:20:10,320
MYOSITIS IN A TEST TUBE AND

6854
04:20:10,320 --> 04:20:12,280
SCREEN LARGE NUMBERS OF APPROVED

6855
04:20:12,280 --> 04:20:14,720
DRUGS ANDVATIONAL AGENTS WITH

6856
04:20:14,720 --> 04:20:16,520
THE HOPE OF IDENTIFYING NEW

6857
04:20:16,520 --> 04:20:19,840
DRUGS THAT MAY HELP JM PATIENTS.

6858
04:20:19,840 --> 04:20:22,880
THEN CURE JM ALSO WAS KEY

6859
04:20:22,880 --> 04:20:25,440
PARTNER IN INTERNATIONAL

6860
04:20:25,440 --> 04:20:27,320
MYOSITIS ASSESSMENT STUDIES

6861
04:20:27,320 --> 04:20:28,520
GROUP PARTICULARLY IN

6862
04:20:28,520 --> 04:20:29,600
DEVELOPMENT OF NEW RESPONSE

6863
04:20:29,600 --> 04:20:33,400
CRITERIA FOR ADULT AND JUVENILE

6864
04:20:33,400 --> 04:20:36,200
MYOSITIS. INTERNATIONAL

6865
04:20:36,200 --> 04:20:37,080
MULTI-DISCIPLINARY CONSORTIUM

6866
04:20:37,080 --> 04:20:40,640
THAT USES GLOBAL APPROACH TO

6867
04:20:40,640 --> 04:20:42,200
IMPROVE TREATMENT AND

6868
04:20:42,200 --> 04:20:43,480
UNDERSTANDING MYOSITIS AND CURE

6869
04:20:43,480 --> 04:20:45,080
JM WAS KEY IN FUNDING A PORTION

6870
04:20:45,080 --> 04:20:48,120
OF THE ANALYSES AND EVEN

6871
04:20:48,120 --> 04:20:49,160
CONSENSUS CONFERENCE TO DEVELOP

6872
04:20:49,160 --> 04:20:51,360
THESE NEW RESPONSE CRITERIA. AND

6873
04:20:51,360 --> 04:20:54,120
OUT OF THAT WORK THE ACR

6874
04:20:54,120 --> 04:20:55,360
RESPONSE CRITERIA WERE DEVELOPED

6875
04:20:55,360 --> 04:20:57,040
AND ARE NOW USED AS THE PLY MARE

6876
04:20:57,040 --> 04:20:59,600
END POINT FOR MYOSITIS CLINICAL

6877
04:20:59,600 --> 04:21:01,640
TRIALS. LEADING TO THE EXPANSION

6878
04:21:01,640 --> 04:21:03,480
NEW THERAPIES BEING STUDIED

6879
04:21:03,480 --> 04:21:07,320
MYOSITIS. AND DEVELOPED. AND

6880
04:21:07,320 --> 04:21:10,040
THIS WORK REALLY CAME TO BE

6881
04:21:10,040 --> 04:21:11,560
RECOGNIZED BY GLOBAL GENES

6882
04:21:11,560 --> 04:21:13,800
THROUGH RARE CHAMPION OF HOPE

6883
04:21:13,800 --> 04:21:15,040
AWARD FOR RESEARCH COLLABORATION

6884
04:21:15,040 --> 04:21:16,680
WHICH FRED MILLER AND I WERE

6885
04:21:16,680 --> 04:21:17,920
FORTUNATE TO RECEIVE IN THE

6886
04:21:17,920 --> 04:21:19,360
PRESENCE OF SHERRY HUMAN, ONE OF

6887
04:21:19,360 --> 04:21:24,600
THE FOUNDERS OF THE CURE JM. 

6888
04:21:24,600 --> 04:21:27,080
CURE JM PARTNERED WITH FORMING

6889
04:21:27,080 --> 04:21:30,280
THE GW MYOSITIS CENTER, A CENTER

6890
04:21:30,280 --> 04:21:33,440
WHERE HANNAH KIM AND I AND LJ

6891
04:21:33,440 --> 04:21:37,480
JONES ATTENDED IN CLINIC ADULT

6892
04:21:37,480 --> 04:21:38,880
RHEUMATOLOGIST TO CONSULT

6893
04:21:38,880 --> 04:21:41,440
PATIENTS WITH JUVENILE MYOSITIS.

6894
04:21:41,440 --> 04:21:43,720
THIS IS A CLOSE COLLABORATION

6895
04:21:43,720 --> 04:21:44,880
BETWEEN GEORGE WASHINGTON

6896
04:21:44,880 --> 04:21:46,800
UNIVERSITY NIH AND CURE JM. WE

6897
04:21:46,800 --> 04:21:48,400
ARE ALSO PERFORMING JOINT

6898
04:21:48,400 --> 04:21:51,800
RESEARCH STUDIES AS WELL

6899
04:21:51,800 --> 04:21:53,480
INCLUDING CLINICAL TRIAL

6900
04:21:53,480 --> 04:21:56,000
DEVELOPING A NEW BIOLOGIC

6901
04:21:56,000 --> 04:21:58,040
THERAPY FOR JUVENILE MYOSITIS

6902
04:21:58,040 --> 04:21:59,920
PATIENTS. WE HAVE ALSO EDUCATED

6903
04:21:59,920 --> 04:22:02,280
A LARGE NUMBER OF ADULT

6904
04:22:02,280 --> 04:22:03,640
PEDIATRIC RHEUMATOLOGY TRAINEES

6905
04:22:03,640 --> 04:22:07,200
IN THE CLINIC, FELLOWS RESIDENTS

6906
04:22:07,200 --> 04:22:10,480
MEDICAL STUDENTS AND VISITING

6907
04:22:10,480 --> 04:22:12,280
FACULTY. THESE ALL HAVE BEEN

6908
04:22:12,280 --> 04:22:14,360
ABLE TO PROVIDE EXCELLENT

6909
04:22:14,360 --> 04:22:16,360
CLINICAL CARE GOING FORWARD FOR

6910
04:22:16,360 --> 04:22:21,280
PATIENTS WITH JUVENILE MYOSITIS.

6911
04:22:21,280 --> 04:22:25,040
OUR WORK IS SUMMARIZED IN THE

6912
04:22:25,040 --> 04:22:27,600
PROCLAMATION OF THANKS DELIVERED

6913
04:22:27,600 --> 04:22:30,760
TO US AT THE LAST NIH RARE

6914
04:22:30,760 --> 04:22:32,360
DISEASE DAY, GIVING HIS THANKS

6915
04:22:32,360 --> 04:22:35,480
TO NCATS, NIPPLES AND GROUP IN

6916
04:22:35,480 --> 04:22:39,680
NIEHS FOR THE WORK WE HAVE DONE.

6917
04:22:39,680 --> 04:22:41,360
IT WAS DEDICATION OF PARTNERSHIP

6918
04:22:41,360 --> 04:22:44,240
OF CURE JM WITH NIH, THIS

6919
04:22:44,240 --> 04:22:45,880
PROCLAMATION THAT LEADS US TO

6920
04:22:45,880 --> 04:22:47,760
KEEP SITE ON IMPORTANCE OF

6921
04:22:47,760 --> 04:22:48,680
FINDING BETTER TREATMENTS AND

6922
04:22:48,680 --> 04:22:50,840
CURE FOR PATIENTS WITH JUVENILE

6923
04:22:50,840 --> 04:22:52,480
MYOSITIS AND SUPPORTING FAMILIES

6924
04:22:52,480 --> 04:22:54,440
OF THOSE WHO LIVED WITH JUVENILE

6925
04:22:54,440 --> 04:22:57,840
MYOSITIS. THAT -- THIS PARTNER

6926
04:22:57,840 --> 04:23:02,680
SHIP IS VERY KEY TO THIS WORK.  

6927
04:23:02,680 --> 04:23:12,960
THANK YOU. 

6928
04:23:12,960 --> 04:23:15,320
>> THANK YOU, DR. RIDER. I'LL

6929
04:23:15,320 --> 04:23:16,800
RETURN WITH A QUESTION FOR DR.

6930
04:23:16,800 --> 04:23:18,480
RIDER AND THEN HAVE A CHANCE FOR

6931
04:23:18,480 --> 04:23:20,360
AUDIENCE QUESTIONS AS WELL.  IF

6932
04:23:20,360 --> 04:23:22,720
YOU HAVE A QUESTION FOR DR.

6933
04:23:22,720 --> 04:23:24,520
RIDER POST IN THE EVENT AT Q&A

6934
04:23:24,520 --> 04:23:27,520
NOW. EARLIER I MENTIONED THE

6935
04:23:27,520 --> 04:23:29,200
IMPORTANCE OF INVOLVING FAMILIES

6936
04:23:29,200 --> 04:23:30,920
IN EVERYTHING WE DO AS A

6937
04:23:30,920 --> 04:23:32,920
NON-PROFIT ESPECIALLY RESEARCH.

6938
04:23:32,920 --> 04:23:36,120
OUR NEXT GUESTS ARE CHRISTINE

6939
04:23:36,120 --> 04:23:37,840
ALDERFER, 12 YEAR VOLUNTEER WITH

6940
04:23:37,840 --> 04:23:40,000
CURE JM AND HER DAUGHTER

6941
04:23:40,000 --> 04:23:41,640
KATHERINE WHO WAS DIAGNOSED WITH

6942
04:23:41,640 --> 04:23:43,320
JUVENILE MYOSITIS AT AGE 4 AND

6943
04:23:43,320 --> 04:23:45,440
REMAINS IN TREATMENT TODAY.

6944
04:23:45,440 --> 04:23:47,200
CHRISTINE HAS TAKEN THE LEAD ON

6945
04:23:47,200 --> 04:23:47,880
MANY VOLUNTARY DRIVEN

6946
04:23:47,880 --> 04:23:49,160
INITIATIVES OVER THE YEARS. AND

6947
04:23:49,160 --> 04:23:52,440
HAS MOST RECENTLY BEEN ELECTED

6948
04:23:52,440 --> 04:23:53,840
PRESIDENT OF CURE JM BOARD OF

6949
04:23:53,840 --> 04:23:55,800
DIRECTORS. CHRISTINE, I WILL

6950
04:23:55,800 --> 04:24:01,160
START WITH YOU.  FROM PARENTS'

6951
04:24:01,160 --> 04:24:02,480
PERSPECTIVE WHY ARE RESEARCH

6952
04:24:02,480 --> 04:24:03,280
PARTNERSHIPS WITH INSTITUTIONS

6953
04:24:03,280 --> 04:24:04,200
LIKE THE NIH SO IMPORTANT TO

6954
04:24:04,200 --> 04:24:08,800
YOU?

6955
04:24:08,800 --> 04:24:10,880
>> THANK YOU, JIM, IN MY VIEW

6956
04:24:10,880 --> 04:24:11,800
RARE DISEASE ORGANIZATIONS NEED

6957
04:24:11,800 --> 04:24:13,240
TO FOCUS ON DISCOVERY OF BETTER

6958
04:24:13,240 --> 04:24:17,280
TREATMENT.  I DON'T MEAN TO TELL

6959
04:24:17,280 --> 04:24:18,960
ANYONE AT THIS SESSION MOST RARE

6960
04:24:18,960 --> 04:24:21,280
DISEASES DON'T HAVE APPROVED

6961
04:24:21,280 --> 04:24:22,840
TREATMENTS. TO CURE JM IT MADE

6962
04:24:22,840 --> 04:24:26,360
SENSE TO PARTNER WITH RESEARCH

6963
04:24:26,360 --> 04:24:29,440
INSTITUTIONS AND WITH H NIH

6964
04:24:29,440 --> 04:24:31,040
PERHAPS MOST PREEMINENT RESEARCH

6965
04:24:31,040 --> 04:24:31,920
INSTITUTION IN THE WORLD.  WE

6966
04:24:31,920 --> 04:24:34,160
WERE FORT MAT TO FIND DR. RIDERS

6967
04:24:34,160 --> 04:24:36,080
AND DR. MILLER'S LAB HAD BEEN

6968
04:24:36,080 --> 04:24:38,080
CONDUCTING SOME IMPORTANT BASIC

6969
04:24:38,080 --> 04:24:39,080
RESEARCH INTO CAUSES OF

6970
04:24:39,080 --> 04:24:42,600
MYOSITIS. DR. RIDER GRACIOUSLY

6971
04:24:42,600 --> 04:24:45,200
AGREED TO JOIN MEDICAL ADVISORY

6972
04:24:45,200 --> 04:24:46,920
BOARD AND OVER TIME WITH HELP

6973
04:24:46,920 --> 04:24:49,080
FROM FUNDING DIRECT MORE

6974
04:24:49,080 --> 04:24:51,080
RESEARCH JUVENILE MYOSITIS

6975
04:24:51,080 --> 04:24:53,240
DIRECTLY. AS SHE SAID, WE WERE

6976
04:24:53,240 --> 04:24:57,200
ALSO ABLE TO RECRUIT FELLOWS TO

6977
04:24:57,200 --> 04:24:58,440
SUPPORT JM SPECIFIC RESEARCH

6978
04:24:58,440 --> 04:25:01,800
PROJECTS LIKE THE ONE KATHERINE

6979
04:25:01,800 --> 04:25:02,280
PARTICIPATED? .

6980
04:25:02,280 --> 04:25:04,400
>> KATHERINE, YOU ARE NOW 15 AND

6981
04:25:04,400 --> 04:25:05,400
LIVERING WITH THE DISEASE MORE

6982
04:25:05,400 --> 04:25:09,000
THAN A DECADE. FROM A PATIENT

6983
04:25:09,000 --> 04:25:10,720
PERSPECTIVE WHAT DOES RESEARCH

6984
04:25:10,720 --> 04:25:12,760
AROUND PARTICIPATION MEAN TO

6985
04:25:12,760 --> 04:25:13,280
YOU? FROM

6986
04:25:13,280 --> 04:25:14,480
>> THANK YOU FOR HAVING ME

6987
04:25:14,480 --> 04:25:18,400
TODAY. IN MARCH OF 2010, I

6988
04:25:18,400 --> 04:25:19,720
DEVELOPED A STRANGE RASH. MY

6989
04:25:19,720 --> 04:25:20,640
PARENTS THOUGHT IT WAS AN

6990
04:25:20,640 --> 04:25:22,000
ALLERGY TO SOMETHING. MY MOM

6991
04:25:22,000 --> 04:25:24,000
CHANGED ALL THE BEDDING, SOAPS

6992
04:25:24,000 --> 04:25:25,040
AND ANYTHING ELSE THAT WOULD

6993
04:25:25,040 --> 04:25:28,480
HAVE CAUSED THIS AWFUL RASH. 

6994
04:25:28,480 --> 04:25:32,040
PEOPLE SOP ME IN THE STORES AND

6995
04:25:32,040 --> 04:25:32,560
TELL MY MILLIMETER TO USE

6996
04:25:32,560 --> 04:25:34,480
SUNSCREEN ME, I BECAME CRANKY

6997
04:25:34,480 --> 04:25:36,360
TIRED IRRITABLE AND FATIGUED. 

6998
04:25:36,360 --> 04:25:37,520
ONE DAY I COULD WALK UP THE

6999
04:25:37,520 --> 04:25:38,720
STAIRS IN OUR HOUSE AND THE NEXT

7000
04:25:38,720 --> 04:25:41,800
DAY I COULDN'T. I STARTED

7001
04:25:41,800 --> 04:25:43,280
CHOKING ON MY FOOD.  MY PARENTS

7002
04:25:43,280 --> 04:25:44,680
PUSHED DOCTORS TO TELL US WHAT

7003
04:25:44,680 --> 04:25:46,320
WAS HAPPENING TO ME. IT TOOK

7004
04:25:46,320 --> 04:25:48,400
MONTHS AND MANY APPOINTMENTS TO

7005
04:25:48,400 --> 04:25:51,280
MAKE PROGRESS JUST DAYS A OF MY

7006
04:25:51,280 --> 04:25:54,280
FOURTH BIRTHDAY I WAS DIAGNOSED

7007
04:25:54,280 --> 04:25:56,600
WITH JUVENILE MYOSITIS. MY

7008
04:25:56,600 --> 04:25:58,080
PARENTS NEVER HEARD OF IT AND

7009
04:25:58,080 --> 04:26:00,200
DID A GOOGLE SEARCH WHICH SHOWED

7010
04:26:00,200 --> 04:26:01,880
HOW TERRIBLE THE DIAGNOSIS WAS.

7011
04:26:01,880 --> 04:26:05,240
WE RECEIVED ACAL FROM RILEY

7012
04:26:05,240 --> 04:26:07,280
HOSPITAL FOR CHILDREN IN

7013
04:26:07,280 --> 04:26:09,160
INDIANAPOLIS. MY PARENTS PACKED

7014
04:26:09,160 --> 04:26:10,840
A BAG AND HEAD FORD THE ER.

7015
04:26:10,840 --> 04:26:12,680
FROM THIS DAY FORWARD, OUR LIVES

7016
04:26:12,680 --> 04:26:15,760
WOULD NEVER BE THE SAME.  I WAS

7017
04:26:15,760 --> 04:26:19,200
DIAGNOSED WITH THIS RARE

7018
04:26:19,200 --> 04:26:20,440
DISEASE, A DISEASE FOR WHICH

7019
04:26:20,440 --> 04:26:23,280
THERE IS NO CURE. A DISEASE

7020
04:26:23,280 --> 04:26:25,440
WHICH BODY ATTACKS ITSELF.  WHEN

7021
04:26:25,440 --> 04:26:27,200
YOUR MUSCLES ARE ATTACKED THE

7022
04:26:27,200 --> 04:26:31,600
DAMAGE IS PERMANENT. MY MUSCLES

7023
04:26:31,600 --> 04:26:32,640
WERE BEING DESTROY AND I WAS

7024
04:26:32,640 --> 04:26:35,480
FAILING MORE EVERY DAY. I WAS

7025
04:26:35,480 --> 04:26:36,680
ADMITTED IMMEDIATELY AND STARTED

7026
04:26:36,680 --> 04:26:39,520
TREATMENT TO HELP. THEY STARTED

7027
04:26:39,520 --> 04:26:43,240
ME ON MASSIVE DOSE STEROIDS AND

7028
04:26:43,240 --> 04:26:45,000
CHEMOTHERAPY. I WAS FOUR AND

7029
04:26:45,000 --> 04:26:48,000
MISERABLE. IT WAS THE BEGINNING

7030
04:26:48,000 --> 04:26:49,600
OF 12 YEARS OF MANY INFUSION

7031
04:26:49,600 --> 04:26:52,080
TREATMENTS HOSPITAL STAYS ORAL

7032
04:26:52,080 --> 04:26:54,080
MEDS, AND TRYING TO FIGURE

7033
04:26:54,080 --> 04:26:56,360
THINGS OUT. LUCKILY MY MOM FOUND

7034
04:26:56,360 --> 04:27:00,400
DR. RIDER THROUGH THE CURE JM

7035
04:27:00,400 --> 04:27:00,960
FOUNDATION AND FIGURED A

7036
04:27:00,960 --> 04:27:03,720
TREATMENT PROTOCOL TO HELP ME.  

7037
04:27:03,720 --> 04:27:04,960
MY FRIENDS SISTER BOTH

7038
04:27:04,960 --> 04:27:07,440
PARTICIPATED IN STUDIES WITH THE

7039
04:27:07,440 --> 04:27:09,280
NIH AND I HAVE BEEN SEEN AT

7040
04:27:09,280 --> 04:27:13,440
THEIR CLINICS SEVERAL TIMES. I'M

7041
04:27:13,440 --> 04:27:15,080
THANKFUL AND SO GLAD CURE JM

7042
04:27:15,080 --> 04:27:16,280
SUPPORTS RESEARCH IN THOSE

7043
04:27:16,280 --> 04:27:18,880
CLINICS.  PARTICIPATING IN

7044
04:27:18,880 --> 04:27:20,120
RESEARCH STUDIES IS SOMETHING

7045
04:27:20,120 --> 04:27:21,840
PATIENT VERSUS TO DO IF WE ARE

7046
04:27:21,840 --> 04:27:23,280
EVER GOING TO FIND A CURE FOR

7047
04:27:23,280 --> 04:27:26,400
ALL RARE DISEASES. SOME KIDS

7048
04:27:26,400 --> 04:27:29,520
WITH JM GET BETTER FASTERS

7049
04:27:29,520 --> 04:27:30,320
BECAUSE THERE ARE EXISTING

7050
04:27:30,320 --> 04:27:31,200
TREATMENTS THAT WORK BETTER THAN

7051
04:27:31,200 --> 04:27:36,720
OTHERS.  I HAVE TO BELIEVE NIH

7052
04:27:36,720 --> 04:27:38,840
RESEARCH WILL LEAD TO BETTER

7053
04:27:38,840 --> 04:27:40,480
TREATMENTS. THAT IS ONE REASON

7054
04:27:40,480 --> 04:27:43,800
I'M INVOLVED IN THE RESEARCH.

7055
04:27:43,800 --> 04:27:45,560
DR. RIDER AND OTHERS CAN'T DO

7056
04:27:45,560 --> 04:27:47,040
THE WORK WITHOUT US.  WHEN YOU

7057
04:27:47,040 --> 04:27:48,000
OUTTAKE PART IN RESEARCH WE ARE

7058
04:27:48,000 --> 04:27:52,520
BUILDING OUR OWN FUTURE. IT IS

7059
04:27:52,520 --> 04:27:53,200
VERY EMPOWERING.

7060
04:27:53,200 --> 04:27:54,520
>> KATHERINE, HOW DID IT FEEL

7061
04:27:54,520 --> 04:27:57,240
WHEN YOU GO TO NIH AND

7062
04:27:57,240 --> 04:27:58,920
PARTICIPATE IN ONE OF DR. RIDERS

7063
04:27:58,920 --> 04:28:00,880
OR THE OTHER DOCTOR'S RESEARCH

7064
04:28:00,880 --> 04:28:01,320
STUDIES? 

7065
04:28:01,320 --> 04:28:03,240
>> I REALLY FELT LIKE SOMEONE

7066
04:28:03,240 --> 04:28:06,200
WAS LOOKING OUT FOR ME. JUVENILE

7067
04:28:06,200 --> 04:28:07,680
MYOSITIS IS A DIFFERENT DISEASE

7068
04:28:07,680 --> 04:28:09,880
FOR EACH KID WHO HAS IT. IT IS

7069
04:28:09,880 --> 04:28:11,360
SAID NO TWO KIDS ARE THE SAME. 

7070
04:28:11,360 --> 04:28:13,240
AND THE DOCTORS AND RESEARCHERS

7071
04:28:13,240 --> 04:28:14,320
AT NIH HAD ALREADY FIGURED THAT

7072
04:28:14,320 --> 04:28:17,880
OUT.  SO WHILE IT CAN BE SCARY

7073
04:28:17,880 --> 04:28:21,600
TO BE IN RESEARCH STUDY, IT'S

7074
04:28:21,600 --> 04:28:23,240
REASSURING TO KNOW YOU ARE

7075
04:28:23,240 --> 04:28:24,280
HELPING OTHERS AND THAT YOU

7076
04:28:24,280 --> 04:28:27,000
MIGHT JUST HELP YOURSELF AS

7077
04:28:27,000 --> 04:28:30,480
WELL. DR. RIDE EARS KNOWLEDGE

7078
04:28:30,480 --> 04:28:32,640
AND CARE SAVED MANY LIVES OVER

7079
04:28:32,640 --> 04:28:35,680
THE YEARS AND MIGHT HAVE SAVED

7080
04:28:35,680 --> 04:28:36,040
MINE AS WELL.

7081
04:28:36,040 --> 04:28:38,680
>> CHRISTINE, WHAT ADVICE WOULD

7082
04:28:38,680 --> 04:28:40,040
YOU HAVE FOR ANYONE IN THE

7083
04:28:40,040 --> 04:28:42,760
AUDIENCE WHO WANTS TO DEVELOP A

7084
04:28:42,760 --> 04:28:46,200
RESEARCH RELATIONSHIP WITH NIH?

7085
04:28:46,200 --> 04:28:46,440
SPRUCES

7086
04:28:46,440 --> 04:28:49,800
>> IF YOU DON'T ALREADY HAVE A

7087
04:28:49,800 --> 04:28:51,480
CONTACT OF SOME KIND AT THE NIH

7088
04:28:51,480 --> 04:28:53,560
START AT THE WEB AND SEE WHICH

7089
04:28:53,560 --> 04:28:58,680
OF THE NIH 27 INSTITUTES OR

7090
04:28:58,680 --> 04:28:59,880
CENTERS MIGHT BEST RELATES TO

7091
04:28:59,880 --> 04:29:00,880
YOUR RARE DISEASE. YOU CAN

7092
04:29:00,880 --> 04:29:03,720
SEARCH RARE DISEASE AT THE NIH

7093
04:29:03,720 --> 04:29:05,560
GENETIC RARE DISEASE INFORMATION

7094
04:29:05,560 --> 04:29:06,880
CENTER THAT YOU HEARD ABOUT

7095
04:29:06,880 --> 04:29:08,240
BEFORE THIS SESSION.  YOU CAN

7096
04:29:08,240 --> 04:29:10,320
REACH THE SPECIALIST THERE AT AT

7097
04:29:10,320 --> 04:29:12,600
THE GARD INFORMATION CENTER AND

7098
04:29:12,600 --> 04:29:14,480
THEY HAVE A VIRTUAL EXHIBIT HERE

7099
04:29:14,480 --> 04:29:16,200
AT THE CONFERENCE SO FEEL FREE

7100
04:29:16,200 --> 04:29:18,040
TO SRI THEM AT THEIR BOOTH. --

7101
04:29:18,040 --> 04:29:19,280
VISIT THEM AT THEIR BOOTH.

7102
04:29:19,280 --> 04:29:20,680
ANOTHER RESEARCH AVAILABLE IS

7103
04:29:20,680 --> 04:29:22,480
NIH REPORTER WHICH YOU CAN FIND

7104
04:29:22,480 --> 04:29:25,960
AT REPORTER.NIH.GOV. YOU CAN

7105
04:29:25,960 --> 04:29:27,680
ENTER YOUR DISEASE AND FIND

7106
04:29:27,680 --> 04:29:29,200
RESEARCHERS STUDYING YOUR RARE

7107
04:29:29,200 --> 04:29:31,640
DISEASE AS WELL AS NIH ICs

7108
04:29:31,640 --> 04:29:33,360
FUNDING RESEARCH IN YOUR

7109
04:29:33,360 --> 04:29:35,880
DISEASE. THE OFFICE OF PATIENT

7110
04:29:35,880 --> 04:29:37,440
RECRUITMENT AT THE NIH CLINICAL

7111
04:29:37,440 --> 04:29:39,160
CENTER CAN HELP YOU WITH

7112
04:29:39,160 --> 04:29:41,200
CLINICAL TRIAL PARTICIPATION,

7113
04:29:41,200 --> 04:29:43,240
JUST A MATTER OF REACHING OUT TO

7114
04:29:43,240 --> 04:29:44,040
THE INFORMATION SPECIALIST TO

7115
04:29:44,040 --> 04:29:47,960
CONNECT.  YOU CAN FIND PAPERS

7116
04:29:47,960 --> 04:29:49,760
PUBLISHD BY RESEARCHERS OUTSIDE

7117
04:29:49,760 --> 04:29:50,880
THE THE NIH AND CONNECT WITH

7118
04:29:50,880 --> 04:29:52,520
THEM. WE HAVE FOUND THAT THE

7119
04:29:52,520 --> 04:29:55,880
STAFF IS VERY RESPONSIVE AT THE

7120
04:29:55,880 --> 04:29:57,240
NIH WHETHER OR NOT CURE JM WAS

7121
04:29:57,240 --> 04:29:58,840
SUPPORTING THE PROJECT. LET ME

7122
04:29:58,840 --> 04:30:00,760
ADD MANY PROJECT MOVE FORWARD IN

7123
04:30:00,760 --> 04:30:02,120
YOUR DISEASE WITH SUPPLEMENTAL

7124
04:30:02,120 --> 04:30:04,200
FUNDING. EVEN IF SMALL

7125
04:30:04,200 --> 04:30:05,480
SUPPLEMENTAL GRANT INFLUENCE

7126
04:30:05,480 --> 04:30:07,200
DIRECTION OF THE RESEARCH

7127
04:30:07,200 --> 04:30:08,600
PROJECT, IF THE GRANT OBJECTIVES

7128
04:30:08,600 --> 04:30:11,480
MAKES SENSE TO RESEARCHER. I

7129
04:30:11,480 --> 04:30:13,720
BELIEVE CURE JM'S FIRST SUPPORT

7130
04:30:13,720 --> 04:30:20,160
OF NIH WAS SOMEWHERE AROUND

7131
04:30:20,160 --> 04:30:21,480
$25,000.

7132
04:30:21,480 --> 04:30:26,240
>> DR. RIDER, OTHER THAN GRANT

7133
04:30:26,240 --> 04:30:27,680
FUNDING, WHAT DO YOU THINK NIH

7134
04:30:27,680 --> 04:30:29,080
RESEARCHERS VALUE MOST IN

7135
04:30:29,080 --> 04:30:31,720
PARTNERSHIPS WITH NON-PROFITS? 

7136
04:30:31,720 --> 04:30:33,800
>> JIM, I THINK IT RELATES A LOT

7137
04:30:33,800 --> 04:30:36,400
TO WHAT YOU HAVE SAID IN IN IN

7138
04:30:36,400 --> 04:30:37,760
YOUR OPENING REMARKS, BRINGING

7139
04:30:37,760 --> 04:30:39,200
IN FAMILIES AND FINDING A

7140
04:30:39,200 --> 04:30:42,440
NETWORK OF MUTUAL SUPPORT, TRUE

7141
04:30:42,440 --> 04:30:44,240
STRENGTH IN NUMBERS.  CURE JM IS

7142
04:30:44,240 --> 04:30:45,920
EXTREMELY SUCCESSFUL IN ENGAGING

7143
04:30:45,920 --> 04:30:48,440
FAMILIES AND WE WERE ABLE TO

7144
04:30:48,440 --> 04:30:50,000
TRANSLATE THAT ENGAGEMENT TO

7145
04:30:50,000 --> 04:30:52,000
RESEARCH PARTICIPATION.

7146
04:30:52,000 --> 04:30:54,480
KATHERINE IS A GREAT EXAMPLE OF

7147
04:30:54,480 --> 04:30:56,800
THAT. AND REALLY HER OUTCOME AND

7148
04:30:56,800 --> 04:30:58,160
HOW SHE HAS DONE WITH HER

7149
04:30:58,160 --> 04:31:00,720
ILLNESS IS HEARTENING TO SEE

7150
04:31:00,720 --> 04:31:02,640
THROUGH THE YEARS. THAT MAKES

7151
04:31:02,640 --> 04:31:04,720
CURE JM AN IMPORTANT PARTNER

7152
04:31:04,720 --> 04:31:05,880
MORE THAN RESEARCH GRANT

7153
04:31:05,880 --> 04:31:10,280
FUNDING. 

7154
04:31:10,280 --> 04:31:12,400
>> THANK YOU, DR. RIDE IRAND

7155
04:31:12,400 --> 04:31:13,280
THANK YOU KATHERINE AND

7156
04:31:13,280 --> 04:31:16,760
CHRISTINE FOR BEING WITH US IN

7157
04:31:16,760 --> 04:31:18,080
THIS SESSION. I HOPE THE

7158
04:31:18,080 --> 04:31:20,800
AUDIENCE FOUND IT INFORMATIVE

7159
04:31:20,800 --> 04:31:24,040
AND WE HAVE RECEIVED MANY

7160
04:31:24,040 --> 04:31:25,280
QUESTIONS ON THE Q&A, WE HAVE

7161
04:31:25,280 --> 04:31:29,240
USED UP OUR ALLOTTED TIME FOR

7162
04:31:29,240 --> 04:31:30,240
THIS PARTICULAR SESSION BUT

7163
04:31:30,240 --> 04:31:32,560
WE'LL GET BACK TO Y'ALL

7164
04:31:32,560 --> 04:31:35,080
INDIVIDUALLY WITH YOUR QUESTIONS

7165
04:31:35,080 --> 04:31:36,800
AS THEY COME IN AND HOPE YOU

7166
04:31:36,800 --> 04:31:40,080
HAVE FOUND THIS SESSION TO BE

7167
04:31:40,080 --> 04:31:42,160
VALUABLE INFORMATIVE AND

7168
04:31:42,160 --> 04:31:43,840
HOPEFULLY INSPIRING ABOUT THE

7169
04:31:43,840 --> 04:31:46,680
KINDS OF ACTIVITIES AND ACTIONS

7170
04:31:46,680 --> 04:31:48,360
YOU CAN TAKE WITH YOUR OWN

7171
04:31:48,360 --> 04:31:49,600
NON-PROFIT OR IF YOU ARE

7172
04:31:49,600 --> 04:31:50,880
THINKING OF STARTING A

7173
04:31:50,880 --> 04:31:52,840
NON-PROFIT WITH THE NIH OR OTHER

7174
04:31:52,840 --> 04:31:54,680
RESEARCH INSTITUTIONS AS

7175
04:31:54,680 --> 04:32:02,520
IMPORTANT PARTNERS.  THANK YOU. 

7176
04:32:02,520 --> 04:32:07,120
DECARBOXYLASE.  

7177
04:32:07,120 --> 04:32:10,160
>> I'M TONI PEARSON, THANKS TO

7178
04:32:10,160 --> 04:32:11,920
NCATS FOR THE OPPORTUNITY TO

7179
04:32:11,920 --> 04:32:13,880
TALK WITH YOU TODAY ABOUT OUR

7180
04:32:13,880 --> 04:32:15,560
EXPERIENCE WITH NATURAL HISTORY

7181
04:32:15,560 --> 04:32:18,640
DATA COLLECTION FOR GENE THERAPY

7182
04:32:18,640 --> 04:32:20,560
CLINICAL TRIAL FOR AADC

7183
04:32:20,560 --> 04:32:22,760
DEFICIENCY. THE OUTLINE OF THE

7184
04:32:22,760 --> 04:32:25,080
SESSION WILL BE THAT I WILL

7185
04:32:25,080 --> 04:32:26,320
SPEAK FIRST FOR ABOUT TEN

7186
04:32:26,320 --> 04:32:28,480
MINUTES OR SO, THEN TELL YOU A

7187
04:32:28,480 --> 04:32:33,360
LITTLE BIT ABOUT AADC DEFICIENCY

7188
04:32:33,360 --> 04:32:35,480
, AND GENE THERAPY

7189
04:32:35,480 --> 04:32:36,680
CLINICAL TRIAL WHICH WE HAVE

7190
04:32:36,680 --> 04:32:38,760
BEEN RUNNING WITH NINDS SUPPORT

7191
04:32:38,760 --> 04:32:41,680
THE PAST FIVE YEARS. I WILL ALSO

7192
04:32:41,680 --> 04:32:43,160
SPEAK ABOUT OUR EXPERIENCE WITH

7193
04:32:43,160 --> 04:32:44,680
NATURAL HISTORY DATA COLLECTION

7194
04:32:44,680 --> 04:32:46,800
PART OF THAT STUDY. AND THEN WE

7195
04:32:46,800 --> 04:32:50,320
WILL BE HAPPY TO INTRODUCE

7196
04:32:50,320 --> 04:32:51,760
PARENT OF A CHILD WHOSE

7197
04:32:51,760 --> 04:32:54,280
PARTICIPATED IN OUR STUDY AS

7198
04:32:54,280 --> 04:32:59,200
WELL, SHILLAN RODRIGUEZ PENA. AT

7199
04:32:59,200 --> 04:33:00,760
THE END WE'LL HAVE FEW MINUTES

7200
04:33:00,760 --> 04:33:02,320
FOR DISCUSSION WE HOPE AND ALSO

7201
04:33:02,320 --> 04:33:03,800
FOR THOSE WHO MIGHT BE WATCHING

7202
04:33:03,800 --> 04:33:05,520
THIS ON THE LIVE STREAM DAY WE

7203
04:33:05,520 --> 04:33:07,960
WILL BE AVAILABLE TO TAKE

7204
04:33:07,960 --> 04:33:10,120
QUESTIONS THROUGH THE WEBSITE

7205
04:33:10,120 --> 04:33:14,400
AFTER THE SESSION AS WELL. AS A

7206
04:33:14,400 --> 04:33:16,680
BRIEF INTRODUCTION AADC

7207
04:33:16,680 --> 04:33:18,800
DEFICIENCY IS ULTRA RARE GENETIC

7208
04:33:18,800 --> 04:33:21,520
NEURODEVELOPMENTAL DISORDER.

7209
04:33:21,520 --> 04:33:22,720
THERE ARE APPROXIMATELY 150

7210
04:33:22,720 --> 04:33:26,280
REPORTED CASES IN THE -- AND

7211
04:33:26,280 --> 04:33:29,760
MORE DIAGNOSED BUT THE NUMBER IS

7212
04:33:29,760 --> 04:33:34,680
IN THE HUNDREDS WORLDWIDE. THE

7213
04:33:34,680 --> 04:33:35,880
UNDERLYING CAUSE OF THE DISEASE

7214
04:33:35,880 --> 04:33:39,440
IS THAT THE BRAIN LACKS THE AADC

7215
04:33:39,440 --> 04:33:41,920
ENZYME NEEDED TO MAKE DOPAMINE

7216
04:33:41,920 --> 04:33:43,520
AND SEROTONIN, TWO VERY

7217
04:33:43,520 --> 04:33:45,560
IMPORTANT NEUROTRANSMITTERS IN

7218
04:33:45,560 --> 04:33:48,400
THE BRAIN. AND THE DISEASE

7219
04:33:48,400 --> 04:33:50,680
STARTS TYPICALLY IN INFANCY WITH

7220
04:33:50,680 --> 04:33:52,600
SYMPTOMS THAT INCLUDE OCULAR

7221
04:33:52,600 --> 04:33:54,080
DIRECT CRISES WHICH IS YOU CAN

7222
04:33:54,080 --> 04:33:57,080
SEE ON THE VIDEO HERE, A YOUNG

7223
04:33:57,080 --> 04:34:00,400
BOY HAVING A CRISIS, WITH

7224
04:34:00,400 --> 04:34:01,480
INVOLUNTARY MOVEMENTS OF THE

7225
04:34:01,480 --> 04:34:06,080
EYES, THE HEAD AND WHOLE BODY

7226
04:34:06,080 --> 04:34:07,480
THEY ARE QUITE DISTRESSING

7227
04:34:07,480 --> 04:34:09,000
EPISODES THAT CAN LAST A NUMBER

7228
04:34:09,000 --> 04:34:11,360
OF HOURS, BABIES ALSO HAVE

7229
04:34:11,360 --> 04:34:14,680
TYPICALLY LOW MUSCLE TONE, NO

7230
04:34:14,680 --> 04:34:17,720
RANGE IN VOLUNTARY MOVEMENT AND

7231
04:34:17,720 --> 04:34:19,480
SLEEPING MOOD DISTURBANCE ALONG

7232
04:34:19,480 --> 04:34:22,040
WITH OTHER SYMPTOMS.  AND THE

7233
04:34:22,040 --> 04:34:24,080
DISEASE ALSO HAS A SIGNIFICANT

7234
04:34:24,080 --> 04:34:26,800
IMPACT ON MOTOR AND INTELLECTUAL

7235
04:34:26,800 --> 04:34:28,680
DEVELOPMENT WITH MOST PATIENTS

7236
04:34:28,680 --> 04:34:30,120
WHO HAVE BEEN REPORTED TO DATE

7237
04:34:30,120 --> 04:34:32,360
HAVING MODERATE TO SEVERE

7238
04:34:32,360 --> 04:34:35,200
IMPAIRMENT IN DEVELOPMENT. 

7239
04:34:35,200 --> 04:34:36,640
MEDICATION FOR THIS CONDITION

7240
04:34:36,640 --> 04:34:40,360
ARE TYPICALLY NOT EFFECTIVE SO

7241
04:34:40,360 --> 04:34:42,560
IT HAS BEEN DIFFICULT DISEASE TO

7242
04:34:42,560 --> 04:34:48,480
TREAT FOR A LONG TIME. SO GENE

7243
04:34:48,480 --> 04:34:52,360
THERAPY USING AADC GENE VECTOR

7244
04:34:52,360 --> 04:34:56,720
TO A PLACE -- REPLACE AADC

7245
04:34:56,720 --> 04:34:57,440
FUNCTION INITIALLY STARTED A

7246
04:34:57,440 --> 04:34:59,480
NUMBER OF YEARS AGO ACTUALLY AS

7247
04:34:59,480 --> 04:35:01,720
A TREATMENT STRATEGY FOR

7248
04:35:01,720 --> 04:35:02,880
PARKINSON'S DISEASE. AND THERE

7249
04:35:02,880 --> 04:35:05,920
WAS SOME PUBLICATIONS FIRST

7250
04:35:05,920 --> 04:35:08,280
PUBLICATIONS FOR THOSE FROM

7251
04:35:08,280 --> 04:35:09,400
2008, 2009 AND AS YOU CAN

7252
04:35:09,400 --> 04:35:10,440
IMAGINE MANY YEARS OF

7253
04:35:10,440 --> 04:35:13,960
PRE-CLINICAL WORK BEFORE THAT. 

7254
04:35:13,960 --> 04:35:16,320
IT IS OBVIOUSLY A CANDIDATE GOOD

7255
04:35:16,320 --> 04:35:19,920
STRATEGY TO TREAT AADC

7256
04:35:19,920 --> 04:35:22,120
DEFICIENCY AND AFTER SEVERAL

7257
04:35:22,120 --> 04:35:25,320
YEARS OF WORK TO DEVELOP

7258
04:35:25,320 --> 04:35:27,720
TREATMENT STRATEGY THAT WOULD BE

7259
04:35:27,720 --> 04:35:29,520
APPROPRIATE FOR CHILDREN WITH

7260
04:35:29,520 --> 04:35:34,200
AADC DEFICIENCY WE STARTED AN

7261
04:35:34,200 --> 04:35:37,720
NINDS SPONSORED PHASE 1, 2 TRIAL

7262
04:35:37,720 --> 04:35:41,280
IN 2016 AND THE PI IS

7263
04:35:41,280 --> 04:35:42,360
(INDISCERNIBLE). IN THIS STUDY

7264
04:35:42,360 --> 04:35:45,640
WHAT WE ARE DOING AS YOU CAN SEE

7265
04:35:45,640 --> 04:35:47,720
IT WAS AN MRI SCAN OF THE BRAIN

7266
04:35:47,720 --> 04:35:51,640
OF ONE OF OUR PATIENTS, THE GOAL

7267
04:35:51,640 --> 04:35:55,080
IS TO DO A NEUROSURGICAL

7268
04:35:55,080 --> 04:35:58,280
PROCEDURE THAT DELIVERS INFUSION

7269
04:35:58,280 --> 04:36:01,080
OF AADC GENE VECTOR INTO THE MID

7270
04:36:01,080 --> 04:36:02,080
BRAIN, DEEP INTO THE CENTER OF

7271
04:36:02,080 --> 04:36:07,560
THE BRAIN.  AND THE INITIAL

7272
04:36:07,560 --> 04:36:09,280
SEVEN PATIENTS WHO WERE ENROLLED

7273
04:36:09,280 --> 04:36:10,840
IN THAT TRIAL ARE DESCRIBED IN

7274
04:36:10,840 --> 04:36:14,120
PUBLICATION THAT CAME OUT IN

7275
04:36:14,120 --> 04:36:17,560
2021. WE ARE NOW CONTINUING TO

7276
04:36:17,560 --> 04:36:18,680
ENROLL FOR THE PATIENT --

7277
04:36:18,680 --> 04:36:19,720
FURTHER PATIENTS IN THE NEXT

7278
04:36:19,720 --> 04:36:22,080
PHASE OF THIS CLINICAL TRIAL.  

7279
04:36:22,080 --> 04:36:25,480
SO AS WE WERE DEVELOPING THE

7280
04:36:25,480 --> 04:36:29,120
STUDY PRIOR TO STARTING IN 2016

7281
04:36:29,120 --> 04:36:30,800
ONE OF THE IMPORTANT QUESTIONS

7282
04:36:30,800 --> 04:36:31,960
THAT COME UP FOR CLINICAL

7283
04:36:31,960 --> 04:36:33,080
TRIALS, WHAT MEASURES ARE

7284
04:36:33,080 --> 04:36:37,640
RELEVANT TO MEASURE CLINICAL

7285
04:36:37,640 --> 04:36:41,520
CHANGES? WE WERE FORTUNATE TO

7286
04:36:41,520 --> 04:36:44,280
HAVE GREAT RESOURCE OF THE ADC

7287
04:36:44,280 --> 04:36:45,240
RESEARCH TRUST IN THE COMMUNITY

7288
04:36:45,240 --> 04:36:52,680
OF FAMILIES INTERNATIONALLY, WHO

7289
04:36:52,680 --> 04:36:54,040
HELPED ANSWER THIS QUESTION AT

7290
04:36:54,040 --> 04:36:58,680
FAMILY MEETING IN 2014 WHEN I

7291
04:36:58,680 --> 04:37:00,480
PUT A QUESTION TO PARENTS TO ASK

7292
04:37:00,480 --> 04:37:01,640
WHAT CHALLENGESTHEY FACE WITH

7293
04:37:01,640 --> 04:37:07,600
THEIR CHILDREN AND WHICH WERE

7294
04:37:07,600 --> 04:37:09,080
BIGGEST TO EM THIS. TWO STOOD

7295
04:37:09,080 --> 04:37:10,440
OUT. WHEN WE DID THIS BECAUSE IT

7296
04:37:10,440 --> 04:37:12,400
IS CLEARLY CLINICIANS WE THINK

7297
04:37:12,400 --> 04:37:17,360
WE HAVE AN IDEA ABOUT WHAT

7298
04:37:17,360 --> 04:37:18,160
SYMPTOMS ARE IMPORTANT TO

7299
04:37:18,160 --> 04:37:19,480
PATIENTS AND FAMILIES, IT IS

7300
04:37:19,480 --> 04:37:21,640
ALWAYS A GOOD IDEA TO HAVE

7301
04:37:21,640 --> 04:37:28,240
FAMILIES AGREE. SO ONE OF THE

7302
04:37:28,240 --> 04:37:30,840
SYMPTOMS THAT WAS MENTIONED WAS

7303
04:37:30,840 --> 04:37:32,600
I DESCRIBED AND SHARE AD VIDEO

7304
04:37:32,600 --> 04:37:35,880
FOR EARLIER, THE OTHER MAIN

7305
04:37:35,880 --> 04:37:42,320
POINT EMERGED FROM THIS QUESTION

7306
04:37:42,320 --> 04:37:44,280
SESSION WAS MOTOR DISABLE, LEVEL

7307
04:37:44,280 --> 04:37:47,600
OF MOTOR DIS DISABILITY OR

7308
04:37:47,600 --> 04:37:48,680
DEVELOPMENTAL DISABILITY,

7309
04:37:48,680 --> 04:37:50,240
CONDITIONS TWO THINGS THAT CAN

7310
04:37:50,240 --> 04:37:55,280
SERVE FAMILIES THE MOST. THOSE

7311
04:37:55,280 --> 04:37:56,720
IN LINE WHAT WE THOUGHT

7312
04:37:56,720 --> 04:38:02,280
IMPORTANT FEATURES TO CAPTURE. 

7313
04:38:02,280 --> 04:38:04,880
IN NATURAL MYSTERY DATA IS VERY

7314
04:38:04,880 --> 04:38:05,760
IMPORTANT FOR CLINICAL TRIAL WE

7315
04:38:05,760 --> 04:38:09,080
CAN THINK OF SOME REASONS WHY

7316
04:38:09,080 --> 04:38:11,040
SPECIFICALLY. IN CLINICAL TRIAL

7317
04:38:11,040 --> 04:38:13,320
WE WERE DOING RESEARCH STUDY TO

7318
04:38:13,320 --> 04:38:15,680
ACIDS NEW TREATMENT SAFE AND

7319
04:38:15,680 --> 04:38:19,480
EFFECTIVE. IT DESCRIBED THE

7320
04:38:19,480 --> 04:38:20,600
COURSE OF DISEASE WITHOUT GIVEN

7321
04:38:20,600 --> 04:38:27,720
TREATMENT COUPLE OF THINGS WE

7322
04:38:27,720 --> 04:38:32,800
ARE THINKING ABOUT, IF WE SEE A

7323
04:38:32,800 --> 04:38:34,280
CHANGE WITH NEW TREATMENT CHANGE

7324
04:38:34,280 --> 04:38:39,480
DUE TO TREATMENT OR DUE TO

7325
04:38:39,480 --> 04:38:41,760
DISEASE? WE MIGHT CONSIDER MOTOR

7326
04:38:41,760 --> 04:38:42,880
FUNCTION ONE OF THE IMPORTANT

7327
04:38:42,880 --> 04:38:45,480
MEASURES WE ARE ASSESSING. IF

7328
04:38:45,480 --> 04:38:48,880
THAT WERE TO CHANGE OR START TO

7329
04:38:48,880 --> 04:38:51,200
CHANGE AT THE TIME OF DELIVERY

7330
04:38:51,200 --> 04:38:55,480
NEW TREATMENT IS THAT SAME WHAT

7331
04:38:55,480 --> 04:38:57,680
WOULD HAVE HAPPENED IN THE

7332
04:38:57,680 --> 04:38:59,040
COURSE OF THINGS, IF NATURAL

7333
04:38:59,040 --> 04:39:00,600
HISTORY IS THAT DIRECTORY THAT

7334
04:39:00,600 --> 04:39:02,200
WHEN WE ASSUME TREATMENT IS

7335
04:39:02,200 --> 04:39:06,240
HELPFUL. AND SECOND WAY NATURAL

7336
04:39:06,240 --> 04:39:09,800
HISTORY HELPS US IS ALSO IN

7337
04:39:09,800 --> 04:39:10,560
HELPING TO UNDERSTAND FOR

7338
04:39:10,560 --> 04:39:14,280
MEASURING CHANGE IN SYMPTOMS.  

7339
04:39:14,280 --> 04:39:17,960
IF WE HAVE A GIVEN SYMPTOM LIKE

7340
04:39:17,960 --> 04:39:23,040
CRISIS TO MEASURE HOW SHY VEER

7341
04:39:23,040 --> 04:39:26,120
IT IS BEFORE ANY TREATMENT IS

7342
04:39:26,120 --> 04:39:27,800
GIVEN, IF WE HAVE A SENSE

7343
04:39:27,800 --> 04:39:29,320
MEASUREMENTS OVER TIME ARE

7344
04:39:29,320 --> 04:39:30,600
STABLE IT IS EASY TO DETECT

7345
04:39:30,600 --> 04:39:34,960
CHANGE. ON THE OTHER HAND IF WE

7346
04:39:34,960 --> 04:39:37,640
DISCOVER IT VARIES IT CAN BE

7347
04:39:37,640 --> 04:39:40,040
MORE DIFFICULT. SO THAT HELPS US

7348
04:39:40,040 --> 04:39:41,920
TO FIGURE OUT HOW ACCURATELY

7349
04:39:41,920 --> 04:39:48,360
MEASURE. AS PART OF GENE THERAPY

7350
04:39:48,360 --> 04:39:49,920
TRIAL, NIH ALSO SPONSORED AND

7351
04:39:49,920 --> 04:39:54,960
SUPPORTED US TO DO ADDITIONAL

7352
04:39:54,960 --> 04:39:56,880
NATURAL HISTORY COLLECTION. OUR

7353
04:39:56,880 --> 04:39:59,280
CHALLENGES FOR THIS WERE AS WE

7354
04:39:59,280 --> 04:40:02,520
FACE WITH MANY RARE DISEASES

7355
04:40:02,520 --> 04:40:05,440
PATIENTS ARE SCATTERED AROUND

7356
04:40:05,440 --> 04:40:09,480
GEOGRAPHICALLY FAR FROM ONE

7357
04:40:09,480 --> 04:40:14,240
ANOTHER. WE HAVE 12 PARTICIPANTS

7358
04:40:14,240 --> 04:40:15,560
NINE IN NORTH AMERICA, AS YOU

7359
04:40:15,560 --> 04:40:16,880
CAN SEE FROM COAST TO COAST

7360
04:40:16,880 --> 04:40:21,480
AROUND THE COUNTRY HERE, THIS IS

7361
04:40:21,480 --> 04:40:23,480
ME IN ST. LOUIS. NOT EASY FOR

7362
04:40:23,480 --> 04:40:25,600
PEOPLE TO DRIVE TO SEE ME IN

7363
04:40:25,600 --> 04:40:31,480
CLINIC. AS YOU CAN IMAGINE. WE

7364
04:40:31,480 --> 04:40:33,360
DECIDE ON A STRATEGY OF MOSTLY

7365
04:40:33,360 --> 04:40:34,400
HOME VISITS TO SEE THESE

7366
04:40:34,400 --> 04:40:39,920
PATIENTS.  PATIENTS WITH AADC

7367
04:40:39,920 --> 04:40:42,720
DEFICIENCY ARE MEDICALLY

7368
04:40:42,720 --> 04:40:45,320
FRAGILE, DIFFICULT FOR FAMILIES

7369
04:40:45,320 --> 04:40:48,360
TO TRAVEL TO AND FROM ACROSS THE

7370
04:40:48,360 --> 04:40:51,680
COUNTRY. SO I WANTED TO TRY TO

7371
04:40:51,680 --> 04:40:56,600
REDUCE THAT BURDEN. AND PLAN SRI

7372
04:40:56,600 --> 04:40:59,480
IS IT OVER TWO YEAR PERIOD.  

7373
04:40:59,480 --> 04:41:01,080
VISITS. AS YOU CAN IMAGINE DOING

7374
04:41:01,080 --> 04:41:03,480
THE MATH ONCE INTO THIS WE

7375
04:41:03,480 --> 04:41:04,640
RECRUITED -- ALL 12 PATIENTS

7376
04:41:04,640 --> 04:41:07,880
WITHIN A ONE YEAR PERIOD, IT IS

7377
04:41:07,880 --> 04:41:11,600
A LOT OF VISITS, 12 PARTICIPANTS

7378
04:41:11,600 --> 04:41:12,880
TIMES THREE PER IN THE FIRST

7379
04:41:12,880 --> 04:41:17,080
YEAR AND A LOT OF TRAVELING. SO

7380
04:41:17,080 --> 04:41:21,240
IN JANUARY OF 2020, END OF 2019

7381
04:41:21,240 --> 04:41:24,000
I STARTED DOING SOME OF THESE

7382
04:41:24,000 --> 04:41:25,480
FOLLOW-UP VISITS USING

7383
04:41:25,480 --> 04:41:26,800
TELEMEDICINE. THEN OF COURSE

7384
04:41:26,800 --> 04:41:32,080
FROM MARCH 2020 THAT BECAME NORM

7385
04:41:32,080 --> 04:41:34,520
FOR ALL OF US. THIS IS A PICTURE

7386
04:41:34,520 --> 04:41:37,560
OF TYPICAL SET UP OF STUDY HERE

7387
04:41:37,560 --> 04:41:39,240
WE HAVE THE PATIENT AT HOME AND

7388
04:41:39,240 --> 04:41:40,800
ME WORKING WITH PHYSICAL

7389
04:41:40,800 --> 04:41:41,840
THERAPIST IN THAT STUDY

7390
04:41:41,840 --> 04:41:49,840
COORDINATOR.  SO HERE IS RYAN

7391
04:41:49,840 --> 04:41:51,040
SHILLAN'S DAUGHTER YOU WILL HEAR

7392
04:41:51,040 --> 04:41:54,040
MORE FROM HER SOON. AT THE

7393
04:41:54,040 --> 04:41:57,520
BASELINE WHICH WAS CONDUCTED AT

7394
04:41:57,520 --> 04:41:59,240
A FAMILY CONFERENCE WHICH IS

7395
04:41:59,240 --> 04:42:03,200
WHERE WE RECRUITED THE FIRST

7396
04:42:03,200 --> 04:42:05,200
PARTICIPANTS. ONE OF OUR

7397
04:42:05,200 --> 04:42:06,520
IMPORTANT MEASURES WAS MOTOR

7398
04:42:06,520 --> 04:42:10,840
FUNCTION ASSESSMENT WHICH IS

7399
04:42:10,840 --> 04:42:17,880
WHAT WE WERE ABLE TO DO HERE. 

7400
04:42:17,880 --> 04:42:19,760
HEN THE OTHER THING WE ASK

7401
04:42:19,760 --> 04:42:21,560
PARENTS TO DO WAS HOME WORK WE

7402
04:42:21,560 --> 04:42:25,880
ASK THEM TO RECORD SYMPTOMS AT

7403
04:42:25,880 --> 04:42:27,600
HOME AND WHILE THIS IS AN

7404
04:42:27,600 --> 04:42:29,280
EXAMPLE OF A LOG MY PARENT

7405
04:42:29,280 --> 04:42:32,480
FILLED OUT, RECORDING OF THE --

7406
04:42:32,480 --> 04:42:35,120
SO WE CAN ACCURATELY MEASURE HOW

7407
04:42:35,120 --> 04:42:38,400
LONG THEY WERE, HOW SEVERE OVER

7408
04:42:38,400 --> 04:42:43,240
PERIOD OF SEVERAL MONTHS.

7409
04:42:43,240 --> 04:42:44,800
FOLLOWING RYAN'S COURSE OVER THE

7410
04:42:44,800 --> 04:42:45,680
NEXT TWO AND A HALF YEARS, SHE

7411
04:42:45,680 --> 04:42:50,880
WAS SEEN FOR BASELINE VISIT AGE

7412
04:42:50,880 --> 04:42:54,920
4, SIX MONTHS LATER VISITED

7413
04:42:54,920 --> 04:42:59,280
HOME. . ALMOST 12 MONTHS AFTER

7414
04:42:59,280 --> 04:43:05,840
INITIAL VISIT SHE HAD VISIT AT

7415
04:43:05,840 --> 04:43:07,600
MY INSTITUTION BEFORE HAVING

7416
04:43:07,600 --> 04:43:10,000
GENE THERAPY SURGERY AND OVER

7417
04:43:10,000 --> 04:43:12,360
TIME TO APPRECIATE MANY THAT 12

7418
04:43:12,360 --> 04:43:15,320
MONTH PERIOD HAD SIMILAR MOTOR

7419
04:43:15,320 --> 04:43:18,880
PUNGS ASSESSMENT OVER THAT TIME.

7420
04:43:18,880 --> 04:43:20,280
THE FINAL VIDEO IS TAKEN FROM A

7421
04:43:20,280 --> 04:43:23,400
TELEMEDICINE VISIT, 18 MONTHS

7422
04:43:23,400 --> 04:43:30,880
AFTER SHE HAD GENE THERAPY, WE

7423
04:43:30,880 --> 04:43:39,680
CAN ALL APPRECIATE HOW HER

7424
04:43:39,680 --> 04:43:49,080
MOVEMENTS CHANGED. WE GOT TWO

7425
04:43:49,080 --> 04:43:49,960
VALUABLE PIECES OF INFORMATION

7426
04:43:49,960 --> 04:43:51,280
FROM OUR EXPERIENCE MANY THIS

7427
04:43:51,280 --> 04:43:56,280
NATURAL HISTORY STUDY. FOR NINE

7428
04:43:56,280 --> 04:43:59,120
SUBJECTS HERE OVER PERIOD OF 12

7429
04:43:59,120 --> 04:44:00,800
MONTHS, ONE IMPORTANT THING TO

7430
04:44:00,800 --> 04:44:03,080
FIGURE OUT IS WHETHER THE CRISES

7431
04:44:03,080 --> 04:44:06,280
COULD BE MEASURED IN A STAGE WAY

7432
04:44:06,280 --> 04:44:09,440
OVER TIME AND EACH COLORED BAR

7433
04:44:09,440 --> 04:44:11,400
REPRESENTS ONE OF THE DIFFERENT

7434
04:44:11,400 --> 04:44:15,280
PARTICIPANTS IN THE TRIAL, AND

7435
04:44:15,280 --> 04:44:17,600
IT IS A GIVEN STABLE MEASURE

7436
04:44:17,600 --> 04:44:22,160
OVER TIME. IN THE SECOND GRAPH,

7437
04:44:22,160 --> 04:44:26,320
OUR EXPERIENCE WITH TWO

7438
04:44:26,320 --> 04:44:27,600
PARTICIPANTS, FOLLOW AD YEAR FOR

7439
04:44:27,600 --> 04:44:29,120
GENE THERAPY. IN THE SECTION

7440
04:44:29,120 --> 04:44:32,120
HERE WE SEE MOTOR FUNCTION

7441
04:44:32,120 --> 04:44:37,160
MEASURE, WHICH RUNS FROM ZERO TO

7442
04:44:37,160 --> 04:44:43,080
100. PRE-SURGERY, MOO TORR

7443
04:44:43,080 --> 04:44:45,400
FUNCTION SCORES LESS THAN TEN,

7444
04:44:45,400 --> 04:44:48,160
AFTER SURGERY WE SEE A MARKED

7445
04:44:48,160 --> 04:44:49,600
CHANGE AND MALL HISTORY DATA

7446
04:44:49,600 --> 04:44:50,880
ALLOWS US TO SEE THE CHANGE THAT

7447
04:44:50,880 --> 04:44:58,280
HAPPENS FROM THE TREATMENT. IN

7448
04:44:58,280 --> 04:45:01,160
SUMMARY, I DESCRIBE TO YOU

7449
04:45:01,160 --> 04:45:02,640
OPERATIONAL STUDY, CONCURRENTLY

7450
04:45:02,640 --> 04:45:04,400
WITH GENE THERAPY CLINICAL TRIAL

7451
04:45:04,400 --> 04:45:07,200
FOR AACD DEFICIENCY. WHICH OPTED

7452
04:45:07,200 --> 04:45:09,440
FOR THIS STUDY TO DO I HAVE SITS

7453
04:45:09,440 --> 04:45:14,080
AT HOME OR TELEMEDICINE. THIS

7454
04:45:14,080 --> 04:45:15,880
DATA WE COLLECTED WERE REALLY

7455
04:45:15,880 --> 04:45:17,800
IMPORTANT KEY TO SUCCESSFUL

7456
04:45:17,800 --> 04:45:19,080
APPLICATION FOR FUNDING TO

7457
04:45:19,080 --> 04:45:20,240
CONTINUE NEXT PHASE OF THE TRIAL

7458
04:45:20,240 --> 04:45:23,120
WHICH WE HAVE JUST STARTED.  

7459
04:45:23,120 --> 04:45:25,440
WITH THAT I WANT TO THANK ALL

7460
04:45:25,440 --> 04:45:27,080
THE PATIENTS AND FAMILIES WHO

7461
04:45:27,080 --> 04:45:31,080
CONTRIBUTED TO THIS. L PI OF THE

7462
04:45:31,080 --> 04:45:37,160
GENE THERAPY TRIAL, AND OUR

7463
04:45:37,160 --> 04:45:38,920
STUDY TEAMS. VARIOUS

7464
04:45:38,920 --> 04:45:40,920
INSTITUTIONS IN PARTICULAR

7465
04:45:40,920 --> 04:45:43,960
SUPPORT FROM NINDS AND FROM THE

7466
04:45:43,960 --> 04:45:46,400
AADC RESEARCH TRUST HEADED BY

7467
04:45:46,400 --> 04:45:48,400
LISA MANY THE UK AN INVALUABLE

7468
04:45:48,400 --> 04:45:51,200
RESOURCE FOR THE AACD COMMUNITY.

7469
04:45:51,200 --> 04:45:54,760
WITH THAT, I AM GOING TO HAND

7470
04:45:54,760 --> 04:45:57,880
THIS OVER TO SHILLAN RODRIGUEZ

7471
04:45:57,880 --> 04:46:00,600
PENA WHO WILL TELL US MORE ABOUT

7472
04:46:00,600 --> 04:46:02,120
HER DAUGHTER'S EXPERIENCE.

7473
04:46:02,120 --> 04:46:04,080
>> THANK YOU SO MUCH, DR.

7474
04:46:04,080 --> 04:46:05,840
PEARSON. HELLO EVERYONE, VERY

7475
04:46:05,840 --> 04:46:10,800
HAPPY TO BE PART OF THIS. I'M A

7476
04:46:10,800 --> 04:46:14,080
MOM TO 7-YEAR-OLD RYAN BORN WITH

7477
04:46:14,080 --> 04:46:17,840
AADC DEEPISH SHY. WE LIVE --

7478
04:46:17,840 --> 04:46:19,280
DEFICIENCY. WE LIVE OUTSIDE OF

7479
04:46:19,280 --> 04:46:21,560
TORONTO. GETTING A DIAGNOSIS WAS

7480
04:46:21,560 --> 04:46:22,800
QUITE A DIFFICULT JOURNEY, JUST

7481
04:46:22,800 --> 04:46:24,600
BECAUSE OF THE RARITY OF OUR

7482
04:46:24,600 --> 04:46:26,720
DISEASE AS DR. PEARSON

7483
04:46:26,720 --> 04:46:29,280
MENTIONED, IN AROUND 150 CASES

7484
04:46:29,280 --> 04:46:31,400
WORLDWIDE. IT IS SUSPECTED

7485
04:46:31,400 --> 04:46:34,280
THERE'S PROBABLY MORE CASES OUT

7486
04:46:34,280 --> 04:46:36,040
THERE, JUST THAT THEY ARE EITHER

7487
04:46:36,040 --> 04:46:37,680
UNDIAGNOSED OR MISDIAGNOSED.

7488
04:46:37,680 --> 04:46:41,280
ONCE WE DID GET DIAGNOSIS, RYAN

7489
04:46:41,280 --> 04:46:46,440
WAS 11 MONTHS OLD AND WE WAISTED

7490
04:46:46,440 --> 04:46:47,800
NO TIME KICKING THE GLOBAL

7491
04:46:47,800 --> 04:46:49,280
COMMUNITY. AS DR. PEARSON

7492
04:46:49,280 --> 04:46:51,280
MENTIONED THE AADC RESEARCH

7493
04:46:51,280 --> 04:46:53,400
TRUST BASED OUTSIDE OF LONDON

7494
04:46:53,400 --> 04:46:54,840
ENGLAND, IS AN INVALUABLE

7495
04:46:54,840 --> 04:46:59,600
RESOURCE FOR OUR FAMILIES AND

7496
04:46:59,600 --> 04:47:02,680
THEY HAVE DONE WORK IN

7497
04:47:02,680 --> 04:47:05,560
SUPPORTING RESEARCH FOR OUR

7498
04:47:05,560 --> 04:47:08,160
CONDITION AND ALSO HEADING A

7499
04:47:08,160 --> 04:47:11,320
BIOANNUAL CONFERENCE FOR OUR

7500
04:47:11,320 --> 04:47:12,560
DISEASE.  MY FAMILY AND I

7501
04:47:12,560 --> 04:47:14,040
TRAVELED TO JUST OUTSIDE OF

7502
04:47:14,040 --> 04:47:16,120
LONDON ENGLAND TWICE IN 2016 AND

7503
04:47:16,120 --> 04:47:18,120
AGAIN IN 2018 TO ATTEND THESE

7504
04:47:18,120 --> 04:47:21,960
CONVERSATIONS. WHICH ARE GREAT

7505
04:47:21,960 --> 04:47:24,320
TO CONNECT IN PERSON IN

7506
04:47:24,320 --> 04:47:26,160
FAMILIES. ALSO TO CONNECT WITH

7507
04:47:26,160 --> 04:47:27,480
PROFESSIONALS THAT WORK FROM

7508
04:47:27,480 --> 04:47:28,720
ROUND THE GLOBE THAT HAVE

7509
04:47:28,720 --> 04:47:31,040
INTEREST IN OUR DISEASE

7510
04:47:31,040 --> 04:47:32,400
INCLUDING DR. BANQUET AND

7511
04:47:32,400 --> 04:47:36,720
PEARSON. THAT IS WHEN WE STARTED

7512
04:47:36,720 --> 04:47:40,160
DOING THE NATURAL HISTORY STUDY

7513
04:47:40,160 --> 04:47:43,160
WITH DR. PEARSON. THAT FIRST

7514
04:47:43,160 --> 04:47:48,120
VIDEO CLIP IS WHEN WAS OUR FIRST

7515
04:47:48,120 --> 04:47:49,920
SESSION IN TERMS OF LOOKING AT

7516
04:47:49,920 --> 04:47:54,480
RYAN'S BASELINE. I SAID FROM THE

7517
04:47:54,480 --> 04:47:55,840
BEGINNING HOWEVER WE CAN HELP

7518
04:47:55,840 --> 04:48:01,880
WITH ANY RESEARCH OR ANY PROJECT

7519
04:48:01,880 --> 04:48:03,720
HAPPENING WITH ORUDIS THAT I

7520
04:48:03,720 --> 04:48:04,840
WANTED TO BE PART OF IT BECAUSE

7521
04:48:04,840 --> 04:48:06,920
I JUST FEEL LIKE IT IS AN

7522
04:48:06,920 --> 04:48:09,480
INVALUABLE THING TO BE ABLE TO

7523
04:48:09,480 --> 04:48:11,480
SUPPORT AND CONTRIBUTE TO

7524
04:48:11,480 --> 04:48:15,720
GROWING INFORMATION AND GROWING

7525
04:48:15,720 --> 04:48:17,440
DATA FOR OUR DISEASE AND

7526
04:48:17,440 --> 04:48:18,680
ULTIMATELY TREATMENT FOR OUR

7527
04:48:18,680 --> 04:48:21,800
DISEASE. AND THINGS LIKE NATURAL

7528
04:48:21,800 --> 04:48:24,760
HISTORY STUDY GIVE A GREAT

7529
04:48:24,760 --> 04:48:26,480
PICTURE OF THE TRAJECTORY THE

7530
04:48:26,480 --> 04:48:27,800
CHILD WAS ON BEFORE GENE

7531
04:48:27,800 --> 04:48:30,080
THERAPY. WHICH OBVIOUSLY CAN

7532
04:48:30,080 --> 04:48:32,360
ALSO HELP YOU GAUGE THE SUCCESS

7533
04:48:32,360 --> 04:48:34,600
DIRECTLY RELATED TO THE

7534
04:48:34,600 --> 04:48:38,000
INTERVENTION OF GENE THERAPY

7535
04:48:38,000 --> 04:48:41,320
ITSELF. THE QUESTIONS AND THE

7536
04:48:41,320 --> 04:48:42,720
FOLLOW-UPS WERE ALL QUITE EASY

7537
04:48:42,720 --> 04:48:45,240
TO COMPLETE FROM A FAMILY

7538
04:48:45,240 --> 04:48:47,200
PERSPECTIVE. WE WERE TRACKING

7539
04:48:47,200 --> 04:48:51,240
BEHAVIORS AND SYMPTOMS AND

7540
04:48:51,240 --> 04:48:52,760
OCULAR GYRATE CRISIS WHICH DR.

7541
04:48:52,760 --> 04:48:55,280
PEARSON ALSO TOUCHED ON. SOME

7542
04:48:55,280 --> 04:48:56,320
MIGHT NOT CLEARLY UNDERSTAND

7543
04:48:56,320 --> 04:49:00,720
WHAT THAT IS, BUT JUST TO GIVE A

7544
04:49:00,720 --> 04:49:02,400
BRIEF NOTE OF IT EVERY CHILD

7545
04:49:02,400 --> 04:49:04,760
DIAGNOSED WITH AADC DEFICIENCY

7546
04:49:04,760 --> 04:49:07,560
SUFFERS FROM AN OGC OR OCULAR

7547
04:49:07,560 --> 04:49:09,200
GYRATE CRISIS.  THESE ARE

7548
04:49:09,200 --> 04:49:11,080
EPISODES THAT TYPICALLY HAPPEN

7549
04:49:11,080 --> 04:49:12,760
EVERY THREE TO FOUR DAYS. AND

7550
04:49:12,760 --> 04:49:16,880
THEY CAN LAST ANYWHERE FROM TWO

7551
04:49:16,880 --> 04:49:19,400
TO EIGHT HOURS. A LOT OF

7552
04:49:19,400 --> 04:49:21,480
TOMMYING DICE NOSED AS SEIZURE

7553
04:49:21,480 --> 04:49:23,720
ACTIVITY BECAUSE THEY DO

7554
04:49:23,720 --> 04:49:27,840
CLINICALLY REPRESENT LIKE SEE

7555
04:49:27,840 --> 04:49:30,360
INSURES THOUGH NO BRAIN DRAG IS

7556
04:49:30,360 --> 04:49:31,680
HAPPENING WHEN THESE CRISIS TAKE

7557
04:49:31,680 --> 04:49:33,360
PLACE BUT THE CHILD GETS RIGID

7558
04:49:33,360 --> 04:49:35,040
AN DISTONNIC MOVEMENTS, ROLLING

7559
04:49:35,040 --> 04:49:37,840
OF THE EYES BACK, ALL THE WAY UP

7560
04:49:37,840 --> 04:49:41,680
TO THE TOP OF THEIR HEAD, WHEN

7561
04:49:41,680 --> 04:49:44,800
RYAN USED TO HAVE CRISIS SHE HAS

7562
04:49:44,800 --> 04:49:45,880
THE BEAUTIFUL BLUE EYE AND WE

7563
04:49:45,880 --> 04:49:47,360
COULDN'T SEE THE BLUE OF HER

7564
04:49:47,360 --> 04:49:48,840
EYES WHEN SHE WAS STUCK IN ONE

7565
04:49:48,840 --> 04:49:50,640
OF THESE CRISIS. THAT CAN LAST

7566
04:49:50,640 --> 04:49:52,200
FOR US ON AVERAGE THEY WERE

7567
04:49:52,200 --> 04:49:54,200
ANYWHERE FROM FOUR TO EIGHT

7568
04:49:54,200 --> 04:49:55,640
HOURS LONG. HAPPENING EVERY

7569
04:49:55,640 --> 04:49:58,000
THREE TO FOUR DAYS AND THEN DAY

7570
04:49:58,000 --> 04:49:59,800
AFTER SHE WOULD HAVE TO RESET

7571
04:49:59,800 --> 04:50:00,800
BECAUSE SHE WOULD BE EXHAUSTED

7572
04:50:00,800 --> 04:50:04,040
FROM BEING MANY THE CRISIS.  AND

7573
04:50:04,040 --> 04:50:05,840
THEN SOON AS WE KNOW IT, IT

7574
04:50:05,840 --> 04:50:07,520
WOULD BE HAPPENING AGAIN. SO WE

7575
04:50:07,520 --> 04:50:10,280
WERE TRACKING THOSE VERY

7576
04:50:10,280 --> 04:50:11,480
CAREFULLY BECAUSE FROM A

7577
04:50:11,480 --> 04:50:13,240
PARENTS' PERSPECTIVE I TALK TO

7578
04:50:13,240 --> 04:50:15,680
OTHERS ALSO WE WOULD BEFORE GENE

7579
04:50:15,680 --> 04:50:17,600
THERAPY SAID GOSH IF THIS

7580
04:50:17,600 --> 04:50:18,840
SURGICAL INTERVENTION EVEN JUST

7581
04:50:18,840 --> 04:50:22,600
TOOK AWAY THE OGC WE WOULD BE SO

7582
04:50:22,600 --> 04:50:25,480
THANKFUL BECAUSE IT WAS

7583
04:50:25,480 --> 04:50:27,160
ABSOLUTELY TERRIBLE TO STAND BY

7584
04:50:27,160 --> 04:50:29,320
AND WITNESS YOUR CHILD GOING

7585
04:50:29,320 --> 04:50:31,200
THROUGH THESE CRISIS SO

7586
04:50:31,200 --> 04:50:32,640
REGULARLY LASTING FOR HOURS AND

7587
04:50:32,640 --> 04:50:34,000
NOT BEING ABLE TO SOOTHE OR HELP

7588
04:50:34,000 --> 04:50:38,080
THEM AT ALL. ANYHOW, WE REALLY

7589
04:50:38,080 --> 04:50:39,680
DID TRACK THOSE CRISIS AND THE

7590
04:50:39,680 --> 04:50:41,240
SEVERITY OF THOSE CRISIS IN THE

7591
04:50:41,240 --> 04:50:42,880
NATURAL HISTORY STUDY QUITE WELL

7592
04:50:42,880 --> 04:50:46,920
TO BE ABLE TO HAVE GOOD DATA ON

7593
04:50:46,920 --> 04:50:51,880
THAT. I WANT TO TOUCH ON THE

7594
04:50:51,880 --> 04:50:55,240
FACT THAT WE WENT TO POLAND IN

7595
04:50:55,240 --> 04:50:58,840
SEPTEMBER OF 2019, SEPTEMBER 3

7596
04:50:58,840 --> 04:51:00,600
IS WHEN RYAN UNDERWENT GENE

7597
04:51:00,600 --> 04:51:04,120
THERAPY SURGERY THAT WAS LED BY

7598
04:51:04,120 --> 04:51:11,160
DR. CHRISTOFF. I'M NOT

7599
04:51:11,160 --> 04:51:12,840
EXAGGERATING WHEN I SAY SHE'S A

7600
04:51:12,840 --> 04:51:14,600
DIFFERENT CHILD NOW AND QUALITY

7601
04:51:14,600 --> 04:51:15,720
OF LIFE HAS BEEN IMPROVED

7602
04:51:15,720 --> 04:51:17,440
TENFOLD MORE THAN TENFOLD.  THIS

7603
04:51:17,440 --> 04:51:21,840
IS A CHILD THAT HAD NO

7604
04:51:21,840 --> 04:51:23,840
PURPOSEFUL MOVEMENT. SHE

7605
04:51:23,840 --> 04:51:25,120
COULDN'T WIPE HER EYES IF SHE

7606
04:51:25,120 --> 04:51:27,880
WAS TIRED PRIOR TO GENE THERAPY.

7607
04:51:27,880 --> 04:51:30,440
VOMITING DAILY IF NOT EVERY

7608
04:51:30,440 --> 04:51:33,920
SECOND DAY. CONSTANT PAIN,

7609
04:51:33,920 --> 04:51:36,240
FRUSTRATION, OGCs SHE WAS

7610
04:51:36,240 --> 04:51:38,080
TAKING 21 DOSES OF MEDICINE A

7611
04:51:38,080 --> 04:51:40,880
DAY BEFORE SURGERY AND ALL OF

7612
04:51:40,880 --> 04:51:45,080
THAT IS GONE NOW. WE STARTED

7613
04:51:45,080 --> 04:51:47,280
SEEING SOME INCREDIBLE

7614
04:51:47,280 --> 04:51:48,360
MILESTONES ABOUT TWO MONTHS

7615
04:51:48,360 --> 04:51:50,640
AFTER SURGERY, BASICALLY KIND OF

7616
04:51:50,640 --> 04:51:53,000
THE SAME DEVELOPMENT AS A NEURAL

7617
04:51:53,000 --> 04:51:54,680
TYPICAL CHILD, SHE STARTED

7618
04:51:54,680 --> 04:51:57,240
TRYING TO HOLD HER HEAD UP, TWO

7619
04:51:57,240 --> 04:51:58,200
MONTHS POST DOC AND THREE OR

7620
04:51:58,200 --> 04:51:59,960
FOUR MONTHS SHE STARTED REACHING

7621
04:51:59,960 --> 04:52:01,920
AND BATTING FOR TOYS. AGAIN JUST

7622
04:52:01,920 --> 04:52:04,960
LIKE A TYPICAL DEVELOPING CHILD

7623
04:52:04,960 --> 04:52:07,280
WOULD ON THAT TIME LINE. BY

7624
04:52:07,280 --> 04:52:09,240
SEVEN MONTHS SHE MASTERED

7625
04:52:09,240 --> 04:52:12,680
ROLLING, PLAYING WITH TOYS, SITS

7626
04:52:12,680 --> 04:52:13,920
INDEPENDENTLY WHICH WAS A

7627
04:52:13,920 --> 04:52:17,960
MASSIVE ACHIEVEMENT FOR US,

7628
04:52:17,960 --> 04:52:20,960
HEARTING SHE WAS COMPLETELY FED

7629
04:52:20,960 --> 04:52:23,280
BY A G TUBE FEEDING TUNE PRIOR

7630
04:52:23,280 --> 04:52:25,640
TO GENE THERAPY AND NOW SHE CAN

7631
04:52:25,640 --> 04:52:28,920
EAT STEAK AND RICE, LA ZAHNIA,

7632
04:52:28,920 --> 04:52:30,000
WE TAUGHT HER HOW TO HOLD HER

7633
04:52:30,000 --> 04:52:32,000
OWN CUP AND DRINK OUT OF A

7634
04:52:32,000 --> 04:52:35,000
STRAW. SHE'S USING CUTLERY NOW.

7635
04:52:35,000 --> 04:52:38,360
QUALITY OF LIFE HAS IMPROVED

7636
04:52:38,360 --> 04:52:39,640
TREMENDOUSLY. AND FOR THE RARE

7637
04:52:39,640 --> 04:52:44,040
DISEASE COMMUNITY, YOU KNOW WHAT

7638
04:52:44,040 --> 04:52:45,560
ALL THOSE MILESTONES MEAN AND

7639
04:52:45,560 --> 04:52:48,560
HOW IMPORTANT THEY ALL ARE. AND

7640
04:52:48,560 --> 04:52:50,480
SO IT IS MIRACULOUS TO BE ABLE

7641
04:52:50,480 --> 04:52:52,960
TO SEE DIFFERENCE IN OUR

7642
04:52:52,960 --> 04:52:55,760
DAUGHTER AND DUE TO

7643
04:52:55,760 --> 04:52:57,840
NEUROPLASTICITY THERE'S NO LIMIT

7644
04:52:57,840 --> 04:53:00,480
TO HOWEVER SHE WILL GO AND HOW

7645
04:53:00,480 --> 04:53:04,320
MANY MORE MILESTONES SHE WILL BE

7646
04:53:04,320 --> 04:53:08,080
ABLE TO ACCOMPLISH IN THE FUTURE

7647
04:53:08,080 --> 04:53:10,080
. THERE ARE CHILDREN

7648
04:53:10,080 --> 04:53:11,280
POST-OPERATIVELY WALKING,

7649
04:53:11,280 --> 04:53:13,280
TALKING. THAT ARE COMPLETELY

7650
04:53:13,280 --> 04:53:19,440
TOILET RAIN -- RAINED REALLY

7651
04:53:19,440 --> 04:53:21,280
ENJOYING A SECOND CHANCE AT

7652
04:53:21,280 --> 04:53:22,920
LIFE. I'M HAPPY TO SHARE THIS

7653
04:53:22,920 --> 04:53:24,480
STORY BECAUSE I THINK IT IS

7654
04:53:24,480 --> 04:53:25,600
IMPORTANT TO BE ABLE TO SPREAD

7655
04:53:25,600 --> 04:53:28,520
HOPE IN OUR COMMUNITY,

7656
04:53:28,520 --> 04:53:30,840
ESPECIALLY WHEN FAMILIES

7657
04:53:30,840 --> 04:53:35,160
AFLICKED BY SUCH RARE DISEASES,

7658
04:53:35,160 --> 04:53:39,760
HOPE ISN'T HANDED OUT ALL THE

7659
04:53:39,760 --> 04:53:41,760
TIME AND I WANTED TO BRIEFLY

7660
04:53:41,760 --> 04:53:42,320
EXPLAIN WHAT WE HAVE BEEN

7661
04:53:42,320 --> 04:53:45,160
THROUGH AND HOW INCREDIBLY

7662
04:53:45,160 --> 04:53:46,880
HOPEFUL GENE THERAPY IS NOT JUST

7663
04:53:46,880 --> 04:53:48,640
FOR OUR CONDITION BUT FOR

7664
04:53:48,640 --> 04:53:49,520
POSSIBILITY OF MANY DIFFERENT

7665
04:53:49,520 --> 04:53:57,480
RARE DISEASES.  THANK YOU.  

7666
04:53:57,480 --> 04:53:59,480
>> THANKS VERY MUCH SHILLAN FOR

7667
04:53:59,480 --> 04:54:00,960
TELLING US A RYAN'S STORY, IT IS

7668
04:54:00,960 --> 04:54:03,200
A LONG ROAD TO HEAR ABOUT

7669
04:54:03,200 --> 04:54:04,360
EVERYTHING YOU AND YOUR FAMILY

7670
04:54:04,360 --> 04:54:09,120
WENT THROUGH. IF WE HAVE TIME

7671
04:54:09,120 --> 04:54:10,880
FOR ONE QUESTION I WAS JUST

7672
04:54:10,880 --> 04:54:13,240
CURIOUS TO I TOUCHED ON IN MY

7673
04:54:13,240 --> 04:54:15,720
TALK ABOUT HOW MANY YEARS IN THE

7674
04:54:15,720 --> 04:54:19,800
MAKING IT WAS, FOR AADC GENE

7675
04:54:19,800 --> 04:54:21,680
THERAPY. MANY FAMILIES IN THE

7676
04:54:21,680 --> 04:54:23,280
IMMUNITY WERE WAITING FOR A LONG

7677
04:54:23,280 --> 04:54:24,760
TIME AND OBVIOUSLY THAT WAS YOUR

7678
04:54:24,760 --> 04:54:26,120
EXPERIENCE AS WELL. I THINK FOR

7679
04:54:26,120 --> 04:54:27,680
SEVERAL YEARS.  KNOWING THAT IT

7680
04:54:27,680 --> 04:54:36,280
WAS SOMETHING THAT WAS ON THE OR

7681
04:54:36,280 --> 04:54:43,520
RYESON. I WAS CONSCIOUS WE COULD

7682
04:54:43,520 --> 04:54:47,280
MOVE EVERYTHING FASTER FOR EVER

7683
04:54:47,280 --> 04:54:49,640
CHILD. WONDERING IF YOU HAVE ANY

7684
04:54:49,640 --> 04:54:52,440
REFLECTIONS OR THOUGHTS ABOUT

7685
04:54:52,440 --> 04:54:56,280
PERIOD OF WAITING KNOWING GENE

7686
04:54:56,280 --> 04:55:02,360
THERAPY WAS THERE. NOT YET

7687
04:55:02,360 --> 04:55:03,080
NECESSARILY SOMETHING YOU COULD

7688
04:55:03,080 --> 04:55:09,960
ENROLL IN STRAIGHT AWAY. WHAT

7689
04:55:09,960 --> 04:55:12,880
PARTICIPATION IN NATURAL HISTORY

7690
04:55:12,880 --> 04:55:15,760
PORTION OF THE RILE WAS LIKE --

7691
04:55:15,760 --> 04:55:17,120
TRIAL WAS LIKE BEFORE THAT.

7692
04:55:17,120 --> 04:55:22,560
>> THE WAITING, OH BOY, IT

7693
04:55:22,560 --> 04:55:23,160
TRUTHFULLY NOT -- FOR SAKE OF

7694
04:55:23,160 --> 04:55:25,080
TRYING TO SOUND DRAMATIC BUT IT

7695
04:55:25,080 --> 04:55:28,920
REALLY WAS EMOTIONAL TORTURE.

7696
04:55:28,920 --> 04:55:30,560
REALLY MIXED WITH KNOWING HOW

7697
04:55:30,560 --> 04:55:32,600
BLESSED WE ARE. BECAUSE WHEN YOU

7698
04:55:32,600 --> 04:55:35,120
HAVE A DISEASE THIS RARE, THE

7699
04:55:35,120 --> 04:55:37,760
BLESSING OF HAVING THIS LIFE

7700
04:55:37,760 --> 04:55:39,720
CHANGING TREATMENT ON THE

7701
04:55:39,720 --> 04:55:41,080
HORIZON IS INCREDIBLE TO HAVE

7702
04:55:41,080 --> 04:55:42,640
AND YOU ARE GRATEFUL FOR IT AND

7703
04:55:42,640 --> 04:55:44,320
VERY THANKFUL KNOWING THAT IT IS

7704
04:55:44,320 --> 04:55:47,240
DOWN THE ROAD FOR YOU. BUT LIKE

7705
04:55:47,240 --> 04:55:49,120
YOU SAID HAVING IT OUT OF REACH

7706
04:55:49,120 --> 04:55:50,360
WHEN DAY IN AND OUT YOU ARE

7707
04:55:50,360 --> 04:55:53,480
WATCHING YOUR CHILD SUFFER, ALSO

7708
04:55:53,480 --> 04:55:54,800
ACCOMPANIED BY BEING CLOSE TO

7709
04:55:54,800 --> 04:55:56,000
COMMUNITY AND SIGHING OTHER

7710
04:55:56,000 --> 04:55:59,640
CHILDREN PASS AWAY, IT IS ALMOST

7711
04:55:59,640 --> 04:56:01,600
LIKE THE SANDS OF TIME ARE GOING

7712
04:56:01,600 --> 04:56:03,480
AND AS MUCH AS YOU WANT TO TRY

7713
04:56:03,480 --> 04:56:05,080
TO STAY FAITHFUL AND BELIEVE

7714
04:56:05,080 --> 04:56:06,680
YOUR DAUGHTER WILL RECEIVE WHAT

7715
04:56:06,680 --> 04:56:09,480
IT IS YOU ARE HOPING FOR,

7716
04:56:09,480 --> 04:56:14,560
REALITY AND THE SEVERITY OF THE

7717
04:56:14,560 --> 04:56:19,080
SITUATION WEIGHS HEAVY ON YOUR

7718
04:56:19,080 --> 04:56:22,280
WHOLE BEING. EMOTIONALLY, SPIRIT

7719
04:56:22,280 --> 04:56:23,640
ACTUALLY, IT WAS VERY DIFFICULT

7720
04:56:23,640 --> 04:56:26,440
TO WAIT. HAVING SAID THAT, WE

7721
04:56:26,440 --> 04:56:28,280
WAITED, RYAN GOT THE SURGERY

7722
04:56:28,280 --> 04:56:31,680
JUST BEFORE FIFTH BIRTHDAY, WE

7723
04:56:31,680 --> 04:56:32,880
FOUND OUT ABOUT HOPE OF GENE

7724
04:56:32,880 --> 04:56:34,600
THERAPY ON DAY OF DIAGNOSIS AT

7725
04:56:34,600 --> 04:56:37,960
11 MONTHS SO FROM 11 MONTHS TO

7726
04:56:37,960 --> 04:56:39,760
JUST BEFORE HER FIFTH BIRTHDAY,

7727
04:56:39,760 --> 04:56:41,280
I THOUGHT ABOUT IT HUNDREDS OF

7728
04:56:41,280 --> 04:56:42,880
TIMES A DAY A THAT IS NOT AN

7729
04:56:42,880 --> 04:56:49,240
UNDERSTATEMENT. THE DESPERATION

7730
04:56:49,240 --> 04:56:53,720
WAS A DRIVER. IN TERMS OF

7731
04:56:53,720 --> 04:56:54,920
CONNECTING WITH YOU AND BEING

7732
04:56:54,920 --> 04:56:56,080
ABLE TO BE PART OF THE NATURAL

7733
04:56:56,080 --> 04:57:02,880
HISTORY STUDY, I FELT LIKE THAT

7734
04:57:02,880 --> 04:57:04,480
IS SOMETHING I CAN DO NOT ONLY

7735
04:57:04,480 --> 04:57:05,680
FOR RYAN BUT IMMUNITY AT LARGE

7736
04:57:05,680 --> 04:57:11,200
AND HELPING WITH PROMOTING MORE

7737
04:57:11,200 --> 04:57:13,640
DATA AND ALLOWING YOU TO FOLLOW

7738
04:57:13,640 --> 04:57:17,000
US WAS SUCH AN HONOR BECAUSE WE

7739
04:57:17,000 --> 04:57:18,680
REALLY DO ARE CONNECTED TO OUR

7740
04:57:18,680 --> 04:57:21,840
COMMUNITY AND HOWEVER WE CAN

7741
04:57:21,840 --> 04:57:23,920
HELP SUPPORT RESEARCHER DATA WE

7742
04:57:23,920 --> 04:57:25,680
ABSOLUTELY WANT TO BE PART OF

7743
04:57:25,680 --> 04:57:27,920
IT. THAT IS EVER GREEN. EVEN

7744
04:57:27,920 --> 04:57:30,200
NOW. EVEN POST-OPERATIVELY.

7745
04:57:30,200 --> 04:57:31,320
HOWEVER WE CAN HELP AND BE

7746
04:57:31,320 --> 04:57:35,200
VERBAL ABOUT OUR STORY AND

7747
04:57:35,200 --> 04:57:36,480
CONTRIBUTE, THAT'S WE ARE HAPPY

7748
04:57:36,480 --> 04:57:39,200
TO DO SO. 

7749
04:57:39,200 --> 04:57:42,840
>> YOUR CONTRIBUTION AND -- LIKE

7750
04:57:42,840 --> 04:57:43,560
THE OTHER FAMILIES WHO

7751
04:57:43,560 --> 04:57:44,760
PARTICIPATED IN THE TRIAL AND

7752
04:57:44,760 --> 04:57:47,200
NATURAL HISTORY STUDY HAS BEEN

7753
04:57:47,200 --> 04:57:50,520
REMARKABLE OVER THERS YEW.  WITH

7754
04:57:50,520 --> 04:57:53,760
THAT WE ARE WELL OUT OF TIME. SO

7755
04:57:53,760 --> 04:57:55,720
IF YOU WANT TO TELL PEOPLE THAT

7756
04:57:55,720 --> 04:57:57,840
SHILLAN AND I WILL BE AS I SAID

7757
04:57:57,840 --> 04:57:59,480
AVAILABLE TO TAKE QUESTIONS ON

7758
04:57:59,480 --> 04:58:00,960
THE DAY OF THE LIVE SEEM IF YOU

7759
04:58:00,960 --> 04:58:02,680
WOULD LIKE THE REACH OUT TO US,

7760
04:58:02,680 --> 04:58:03,080
THANKS VERY MUCH.

7761
04:58:03,080 --> 04:58:18,480
>> THANK YOU VERY MUCH. 

7762
04:58:18,480 --> 04:58:21,400
>> WELCOME TO USE OF TELEHEALTH

7763
04:58:21,400 --> 04:58:23,360
DURING COVID-19.  MY NAME IS

7764
04:58:23,360 --> 04:58:25,120
TIFFANY BAILEY LASH, PROGRAM

7765
04:58:25,120 --> 04:58:26,560
DIRECTOR NATIONAL INSTITUTE OF

7766
04:58:26,560 --> 04:58:29,520
BIOMEDICAL IMAGING AND

7767
04:58:29,520 --> 04:58:31,200
BIOIMAGING -- BIOENGINEER. I

7768
04:58:31,200 --> 04:58:33,120
WILL SERVE AS MODERATOR AND WE

7769
04:58:33,120 --> 04:58:39,720
WILL BE JOINED BY HEIDI ROSS TO

7770
04:58:39,720 --> 04:58:42,120
PROVIDE INSIGHT INTO TELEHEALTH

7771
04:58:42,120 --> 04:58:47,760
ON GLOBAL SCALE. WE WILL HAVE

7772
04:58:47,760 --> 04:58:50,560
DR. GENIN D'ARMIENTO, KRISTIN

7773
04:58:50,560 --> 04:58:53,360
GRASSI AND DR. ANDREA GROPMAN TO

7774
04:58:53,360 --> 04:58:54,520
DISCUSS TELEHEALTH DURING THE

7775
04:58:54,520 --> 04:58:55,960
PANDEMIC. DURING OUR SESSION YOU

7776
04:58:55,960 --> 04:58:57,640
CAN ROOK FORWARD TO

7777
04:58:57,640 --> 04:58:59,520
UNDERSTANDING WHAT IS MEANT BY

7778
04:58:59,520 --> 04:59:02,320
AND INVOLVED IN TELEHEALTH, IT

7779
04:59:02,320 --> 04:59:04,520
IS IMPORTANCE FOR RARE DISEASE

7780
04:59:04,520 --> 04:59:05,440
PATIENTS AND INDIVIDUAL

7781
04:59:05,440 --> 04:59:07,120
TELEHEALTH EXPERIENCES FROM THE

7782
04:59:07,120 --> 04:59:08,800
PATIENT AND PROVIDER. I WILL

7783
04:59:08,800 --> 04:59:21,560
TURN IT OVER TO HEIDI. 

7784
04:59:21,560 --> 04:59:23,080
>> THANK YOU TO THE NIH AND

7785
04:59:23,080 --> 04:59:24,720
NCATS FOR HOSTING TODAY'S

7786
04:59:24,720 --> 04:59:25,640
WONDERFUL RARE DISEASE DAY

7787
04:59:25,640 --> 04:59:28,440
EVENT. MY NAME IS HEIDI ROSS,

7788
04:59:28,440 --> 04:59:29,560
ACTING VICE PRESIDENT OF POLICY

7789
04:59:29,560 --> 04:59:31,720
AND REGULATORY AFFAIRS AT THE

7790
04:59:31,720 --> 04:59:33,280
NATIONAL ORGANIZATION FOR RARE

7791
04:59:33,280 --> 04:59:35,080
DISORDERS. I'M THRILLED TO KICK

7792
04:59:35,080 --> 04:59:37,440
OFF THE SESSION ON USE OF

7793
04:59:37,440 --> 04:59:38,520
TELEHEALTH DURING THE COVID-19

7794
04:59:38,520 --> 04:59:42,520
PANDEMIC. TELL HEALTH AND

7795
04:59:42,520 --> 04:59:44,120
TELEMEDICINE ARE INTERCHANGEABLE

7796
04:59:44,120 --> 04:59:45,840
AND REFER TO EXCHANGE OF

7797
04:59:45,840 --> 04:59:48,120
INFORMATION FROM ONE PLACE TO

7798
04:59:48,120 --> 04:59:51,120
THE OTHER VIA VIDEO AUDIO OR

7799
04:59:51,120 --> 04:59:52,720
AUDIO COMMUNICATION.  WHILE NOT

7800
04:59:52,720 --> 04:59:56,160
A NEW CONCEPT ITS UTILIZATION

7801
04:59:56,160 --> 04:59:57,960
DURING COVID-19 PANDEMIC

7802
04:59:57,960 --> 05:00:04,400
SKYROCKETED AND MANY OF US USE

7803
05:00:04,400 --> 05:00:06,200
TELEHEALTH FOR THE SAFETY OF OUR

7804
05:00:06,200 --> 05:00:07,840
OWN HOME AND FROM THEIRS TOO

7805
05:00:07,840 --> 05:00:09,880
SOMETIMES. ACCORDING TO THE

7806
05:00:09,880 --> 05:00:11,400
(INAUDIBLE) MEDICARE AND

7807
05:00:11,400 --> 05:00:13,720
MEDICAID SERVICES 52.7 MILLION

7808
05:00:13,720 --> 05:00:15,240
TELEHEALTH VISITS TOOK PLACE

7809
05:00:15,240 --> 05:00:18,120
WITH MEDICARE BENEFICIARIES IN

7810
05:00:18,120 --> 05:00:20,480
2021. THIS WAS A 63 FOLD

7811
05:00:20,480 --> 05:00:23,120
INCREASE. FROM JUST -R8 40,000

7812
05:00:23,120 --> 05:00:28,720
TELEHEALTH VISITS IN 2019. THE

7813
05:00:28,720 --> 05:00:30,240
RARE DISEASE COMMUNITY WITH

7814
05:00:30,240 --> 05:00:31,720
COMPLEX HEALTH NEEDS TO REQUIRE

7815
05:00:31,720 --> 05:00:33,200
REGULAR CONTACT WITH HEALTHCARE

7816
05:00:33,200 --> 05:00:37,000
PROVIDERS, COVID-19 IS EXTREMELY

7817
05:00:37,000 --> 05:00:38,520
DISRUPTIVE. SURVEY CONDUCTED IN

7818
05:00:38,520 --> 05:00:41,320
MIDDLE OF 2020 FOUND ALMOST 80%

7819
05:00:41,320 --> 05:00:44,120
PATIENTS HAD EXPERIENCED

7820
05:00:44,120 --> 05:00:47,040
(INAUDIBLE) AND 32% REPORTED

7821
05:00:47,040 --> 05:00:50,040
CHILD ACCESSING MEDICAL CARE. AT

7822
05:00:50,040 --> 05:00:52,720
THE SAME TIME 88% PATIENTS TELL

7823
05:00:52,720 --> 05:00:54,120
HEALTH APPOINTMENTS (INAUDIBLE).

7824
05:00:54,120 --> 05:00:55,840
GIVEN THE CHALLENGES AND BURDENS

7825
05:00:55,840 --> 05:00:57,400
ASSOCIATED WITH HAVING A RARE

7826
05:00:57,400 --> 05:00:59,040
DISEASE, IT IS NOT SURPRISING TO

7827
05:00:59,040 --> 05:01:03,240
SEE THE POSITIVE RESPONSE TO

7828
05:01:03,240 --> 05:01:05,280
EXPANDED TELEHEALTH SERVICES.

7829
05:01:05,280 --> 05:01:06,840
WITH WHEN NORD CONDUCTED A

7830
05:01:06,840 --> 05:01:09,720
SURVEY IN 2020, OUR RESULTS

7831
05:01:09,720 --> 05:01:11,280
FOUND 92% PATIENTS HAD A

7832
05:01:11,280 --> 05:01:12,560
TELEHEALTH APPOINTMENT SAID IT

7833
05:01:12,560 --> 05:01:18,320
WAS A POSITIVE EXPERIENCE AND

7834
05:01:18,320 --> 05:01:20,560
70% INDICATED THEY WANT THAT

7835
05:01:20,560 --> 05:01:22,280
OPTION FOR FUTURE. NORD SEES IT

7836
05:01:22,280 --> 05:01:24,920
AS A CRITICAL TOOL TO ADVANCE

7837
05:01:24,920 --> 05:01:28,920
HEALTH EQUITY FOR RARE DISEASE

7838
05:01:28,920 --> 05:01:32,200
PATIENTS. ANOTHER SUMMIT PREF

7839
05:01:32,200 --> 05:01:34,040
COVID TIMES 40% TRAVELED MORE

7840
05:01:34,040 --> 05:01:36,480
THAN 60 MILES FOR MEDICAL

7841
05:01:36,480 --> 05:01:38,920
APPOINTMENT THIS IS OFTEN

7842
05:01:38,920 --> 05:01:40,480
SIGNIFICANT TRAVEL COST MISSED

7843
05:01:40,480 --> 05:01:42,680
WORK AND SCHOOL HANDY ROPINGS TO

7844
05:01:42,680 --> 05:01:44,120
FAMILY RUTIN. AND WHAT WE DON'T

7845
05:01:44,120 --> 05:01:46,520
KNOW IS WHO IS OPTIMAL CARE

7846
05:01:46,520 --> 05:01:47,560
WEREN'T ABLE TO OVERCOME

7847
05:01:47,560 --> 05:01:49,880
BURDENS? TELEHEALTH CAN HELP

7848
05:01:49,880 --> 05:01:53,120
REDUCE THESE BARRIERS ALLOWING

7849
05:01:53,120 --> 05:01:54,400
PATIENTS TO GET EXTRA BENEFIT

7850
05:01:54,400 --> 05:01:56,120
FASTER MANY THE CARE GIVING

7851
05:01:56,120 --> 05:02:01,720
(INAUDIBLE) MORE TIMELY MANNER.

7852
05:02:01,720 --> 05:02:03,480
WE KNOW THE BENEFITS OF

7853
05:02:03,480 --> 05:02:06,240
TELEHEALTH. SOME LIKE ACCESS TO

7854
05:02:06,240 --> 05:02:07,760
HIGH-SPEED INTERNET SERVICES FOR

7855
05:02:07,760 --> 05:02:09,240
OTHERS USING TELEHEALTH

7856
05:02:09,240 --> 05:02:12,320
TECHNOLOGY OR DEVICE OR

7857
05:02:12,320 --> 05:02:13,600
(INAUDIBLE) CAN BE CONFUSING. 

7858
05:02:13,600 --> 05:02:15,120
MORE MUST BE DONE TO ENSURE

7859
05:02:15,120 --> 05:02:18,240
PATIENTS HAVE ABILITY TO USE IT,

7860
05:02:18,240 --> 05:02:19,440
EXPLOIT FULLISTEST

7861
05:02:19,440 --> 05:02:25,400
EPIDAIBILITIES AND THAT MEANS

7862
05:02:25,400 --> 05:02:27,840
FULLEST CAPABILITY TO TEACH

7863
05:02:27,840 --> 05:02:31,880
PEOPLE HOW TO USE THIS TOOL.

7864
05:02:31,880 --> 05:02:32,480
EXPANDED TELEHEALTH SERVICES

7865
05:02:32,480 --> 05:02:35,920
MIGHT BE THE ONLY GOOD THING HA

7866
05:02:35,920 --> 05:02:37,920
HAPPENED DURING COVID. A LOT OF

7867
05:02:37,920 --> 05:02:39,800
REGULATIONS ARE COMPLICATED AND

7868
05:02:39,800 --> 05:02:42,040
(INAUDIBLE) WHAT TYPE OF HEALTH

7869
05:02:42,040 --> 05:02:44,520
INSURANCE. ISSUES SUCH AS

7870
05:02:44,520 --> 05:02:46,360
STATEWIDE INSURANCE

7871
05:02:46,360 --> 05:02:47,040
REQUIREMENTS, COVERAGE, HAVE

7872
05:02:47,040 --> 05:02:48,920
BEEN CHALLENGES MEDICATIONS AND

7873
05:02:48,920 --> 05:02:49,880
HEALTHCARE PROVIDERS CONTINUING

7874
05:02:49,880 --> 05:02:52,800
TO HAVE TO NAVIGATE.  SO NO

7875
05:02:52,800 --> 05:02:54,160
REASOND COMMITTED TO ENSURING

7876
05:02:54,160 --> 05:02:55,520
TELEHEALTH IS ACTIVELY

7877
05:02:55,520 --> 05:02:57,320
INTEGRATED INTO OUR HEALTHCARE

7878
05:02:57,320 --> 05:02:58,920
SYSTEM, IN A WAY THAT CAN HELP

7879
05:02:58,920 --> 05:03:01,000
IMPROVE HEALTH EQUITY AND

7880
05:03:01,000 --> 05:03:02,000
ACHIEVE POSITIVE OUTCOMES FOR

7881
05:03:02,000 --> 05:03:06,120
ALL PATIENTS.  (INAUDIBLE)

7882
05:03:06,120 --> 05:03:08,840
FANTASTIC MODERATOR FOR TODAY'S

7883
05:03:08,840 --> 05:03:25,920
SESSION, DR. BAILEY LASH.  

7884
05:03:25,920 --> 05:03:27,920
>> WE HAVE THREE ESTEEMED

7885
05:03:27,920 --> 05:03:31,000
PANELIST, DR. D'ARMIENTO,

7886
05:03:31,000 --> 05:03:33,920
KRISTIN GRASSI AND DR. GROPMAN.

7887
05:03:33,920 --> 05:03:37,080
STARTING WITH DR. D'ARMIENTO,

7888
05:03:37,080 --> 05:03:38,720
WHO SERVES AS PROFESSOR OF

7889
05:03:38,720 --> 05:03:42,120
MEDICINE ANESTHESIOLOGY, SHE'S

7890
05:03:42,120 --> 05:03:49,200
DIRECTOR OF THE CENTER FOR LYMPH

7891
05:03:49,200 --> 05:03:52,320
ANGIOLIE OWE MYOMATOSIS, AND

7892
05:03:52,320 --> 05:03:53,600
RARE LUNG DISEASE AND CHAIR OF

7893
05:03:53,600 --> 05:03:55,520
BOARD OF DIRECTORS FOR ALPHA 1

7894
05:03:55,520 --> 05:03:57,520
FOUNDATION. SHE IS A

7895
05:03:57,520 --> 05:03:58,440
PULMONOLOGIST AND ALSO DOES

7896
05:03:58,440 --> 05:04:02,960
PRIMARY CARE FOR PATIENTS, SHE

7897
05:04:02,960 --> 05:04:04,640
SERVED AS CONSULTANT TO DIRECTOR

7898
05:04:04,640 --> 05:04:05,840
OF OFFICE OF RARE DISEASE AND

7899
05:04:05,840 --> 05:04:11,080
WORKS WITH THE GARD TEAM. OUR

7900
05:04:11,080 --> 05:04:13,360
SHE ALSO SAW FIRST TELEHEALTH

7901
05:04:13,360 --> 05:04:16,160
VISIT WHEN COVID BEGAN. SHE WAS

7902
05:04:16,160 --> 05:04:17,640
ABLE TO SHUT DOWN IN PERSON

7903
05:04:17,640 --> 05:04:20,000
VISITS THE FIRST WEEK OF MARCH,

7904
05:04:20,000 --> 05:04:22,920
RECOGNIZING THE ONE ABILITY OF

7905
05:04:22,920 --> 05:04:27,520
THE PATIENTS WITH COVID.  WITHIN

7906
05:04:27,520 --> 05:04:29,680
WEEKS THE UNIVERSITY SET UP

7907
05:04:29,680 --> 05:04:31,000
TELEHEALTH CAPABILITIES AND

7908
05:04:31,000 --> 05:04:34,600
RAPIDLY MOVED BUSINESS TO TELL

7909
05:04:34,600 --> 05:04:38,800
HEALTH. WE ARE HAPPY TODAY TO

7910
05:04:38,800 --> 05:04:44,040
HEAR FROM DR. D'ARMIENTO'S

7911
05:04:44,040 --> 05:04:45,600
PATIENT, KRISTIN GRASSI. A RARE

7912
05:04:45,600 --> 05:04:47,080
DISEASE PATIENT WHEN SHE WAS

7913
05:04:47,080 --> 05:04:49,360
DIAGNOSED WITH A RARE DISEASE

7914
05:04:49,360 --> 05:04:51,040
PROGRESSIVE LUNG DISEASE, IN

7915
05:04:51,040 --> 05:04:54,040
NOVEMBER OF 2020. AFTER

7916
05:04:54,040 --> 05:04:57,040
UNDERGOING OPEN LUNG BIOPSY. A

7917
05:04:57,040 --> 05:04:59,480
WEEK LATER AFTER HER DIAGNOSIS,

7918
05:04:59,480 --> 05:05:02,400
SHE BEGAN SEEING DR. D'ARMIENTO

7919
05:05:02,400 --> 05:05:03,720
VIA TELEHEALTH AND WILL CONTINUE

7920
05:05:03,720 --> 05:05:05,720
TO DO SO THROUGH SEVERAL MEDICAL

7921
05:05:05,720 --> 05:05:07,720
EMERGENCIES OR PROCEDURES THAT

7922
05:05:07,720 --> 05:05:08,960
TOOK PLACE MONTHS FOLLOWING HER

7923
05:05:08,960 --> 05:05:12,800
DIAGNOSIS. KRISTIN IS CARED FOR

7924
05:05:12,800 --> 05:05:15,480
AND GUIDED THROUGH PROGRESSION

7925
05:05:15,480 --> 05:05:16,760
OF DISEASE ENTIRELY VIA

7926
05:05:16,760 --> 05:05:18,840
TELEHEALTH AND ALL COMMUNICATION

7927
05:05:18,840 --> 05:05:20,360
WITH DR. D'ARMIENTO OCCURRED

7928
05:05:20,360 --> 05:05:23,160
VIRTUALLY AND DIGITALLY.  I'M

7929
05:05:23,160 --> 05:05:28,560
ALSO EXCITED TO INTRODUCE DR.

7930
05:05:28,560 --> 05:05:31,480
ANDREA GROPMAN, PRINCIPLE

7931
05:05:31,480 --> 05:05:35,520
INVESTIGATOR WITH UREA CYCLE

7932
05:05:35,520 --> 05:05:37,800
DISORDERS CONSORTIUM. DR.

7933
05:05:37,800 --> 05:05:40,560
GROPMAN CONDUCTS RESEARCH AND

7934
05:05:40,560 --> 05:05:41,760
CARES FOR PATIENTS WITH RARE

7935
05:05:41,760 --> 05:05:46,320
METABOLIC DISORDERS. SHE IS THE

7936
05:05:46,320 --> 05:05:48,480
PI OF THE CONSORTIUM AND AFTER

7937
05:05:48,480 --> 05:05:53,200
16 YEARS OF RESEARCH IS IN THE

7938
05:05:53,200 --> 05:05:55,120
UCDC, THE PANDEMIC CAUSING

7939
05:05:55,120 --> 05:05:57,400
ABUNDANT RACE AS A RESEARCHERS

7940
05:05:57,400 --> 05:05:59,320
HAD TO PIVOT TO ADAPT TO NEW

7941
05:05:59,320 --> 05:06:01,440
WAYS TO CONDUCT REMOTE RESEARCH

7942
05:06:01,440 --> 05:06:04,120
HERE FOR PATIENTS AND ALSO SERVE

7943
05:06:04,120 --> 05:06:07,280
AS RESOURCE FOR UREA CYCLE

7944
05:06:07,280 --> 05:06:08,400
PATIENT COMMUNITY AS INFORMATION

7945
05:06:08,400 --> 05:06:09,680
ABOUT THE PANDEMIC AND VACCINES

7946
05:06:09,680 --> 05:06:12,080
CAME TO LIFE.  SO WE ARE VERY

7947
05:06:12,080 --> 05:06:13,480
EXCITED TO HAVE THESE THREE

7948
05:06:13,480 --> 05:06:16,760
PANELISTS HERE TODAY. SO I WOULD

7949
05:06:16,760 --> 05:06:19,760
LIKE TO GET STARTED. THIS WILL

7950
05:06:19,760 --> 05:06:26,600
BE JUST KIND OF GENERAL CAN YOU

7951
05:06:26,600 --> 05:06:29,720
SHARE ABOUT YOUR OVERALL

7952
05:06:29,720 --> 05:06:31,440
EXPERIENCE DURING -- AT THE

7953
05:06:31,440 --> 05:06:32,960
BEGINNING OF THE PANDEMIC? AND

7954
05:06:32,960 --> 05:06:35,760
HOW IF YOU HAD TO MAKE A SWITCH

7955
05:06:35,760 --> 05:06:38,120
OR WAS WILL SOMETHING YOU WERE

7956
05:06:38,120 --> 05:06:40,200
ALREADY COMFORTABLE DOING WITH

7957
05:06:40,200 --> 05:06:42,320
TELEHEALTH? I WILL START WITH

7958
05:06:42,320 --> 05:06:44,120
ANDREA TO SHARE A LITTLE BIT

7959
05:06:44,120 --> 05:06:47,360
ABOUT HER EXPERIENCE FIRST.  

7960
05:06:47,360 --> 05:06:50,200
>> THANK YOU, TIFFANY. I'M ALSO

7961
05:06:50,200 --> 05:06:52,280
A DIVISION CHIEF NEUROGENETICS

7962
05:06:52,280 --> 05:06:53,360
AND NEURODEVELOPMENT OF

7963
05:06:53,360 --> 05:06:55,360
DISABILITIES SO WE HAD BEEN

7964
05:06:55,360 --> 05:06:58,000
DABBLING WITH TELEHEALTH OVER

7965
05:06:58,000 --> 05:07:00,400
THE SUMMER PRIOR TO THE PANDEMIC

7966
05:07:00,400 --> 05:07:03,440
BUT NOT MAJOR FASHION. SO WHEN

7967
05:07:03,440 --> 05:07:06,440
THE PANDEMIC FORCED US TO

7968
05:07:06,440 --> 05:07:07,440
TRANSFER PATIENT BUSINESS TO

7969
05:07:07,440 --> 05:07:08,800
TELEHEALTH WE HAD A LITTLE BIT

7970
05:07:08,800 --> 05:07:10,360
OF EXPERIENCE WITH THAT AND ABLE

7971
05:07:10,360 --> 05:07:12,720
O DO IT QUITE QUICKLY. THE

7972
05:07:12,720 --> 05:07:14,360
RESEARCH WAS A LITTLE BIT MORE

7973
05:07:14,360 --> 05:07:18,320
DIFFICULT BECAUSE MANY OF OUR

7974
05:07:18,320 --> 05:07:19,080
CRITICAL REPLIER PATIENTS --

7975
05:07:19,080 --> 05:07:19,920
REQUIRE PATIENTS TO COME IN AND

7976
05:07:19,920 --> 05:07:21,040
WE HAVE BEEN DOING THIS A NUMBER

7977
05:07:21,040 --> 05:07:23,320
OF YEARS THE SAME WAY. SO REALLY

7978
05:07:23,320 --> 05:07:24,640
CAUSED US TO THINK ABOUT MORE

7979
05:07:24,640 --> 05:07:26,720
FLEXIBLE WAYS TO BRING IN

7980
05:07:26,720 --> 05:07:29,560
PATIENTS USING ELECTRONIC

7981
05:07:29,560 --> 05:07:31,120
CONSENT FORMS AND UNFORTUNATELY

7982
05:07:31,120 --> 05:07:32,920
SOME OF THE PROTOCOLS COULDN'T

7983
05:07:32,920 --> 05:07:34,360
CONTINUE BECAUSE THEY DID

7984
05:07:34,360 --> 05:07:36,960
REQUIRE FACE TO FACE LIKE MRI

7985
05:07:36,960 --> 05:07:38,200
STUDIES AND THINGS LIKE THAT BUT

7986
05:07:38,200 --> 05:07:41,360
THE ONE THING THAT CAME OUT FROM

7987
05:07:41,360 --> 05:07:46,160
THE PANDEMIC FROM PATIENT ANDRY

7988
05:07:46,160 --> 05:07:47,920
SEARCH, TWO THINGS. THE

7989
05:07:47,920 --> 05:07:49,360
INEQUITIES OF SOME PATIENTS NOT

7990
05:07:49,360 --> 05:07:52,520
BEING ABLE TO HAVE THE RIGHT

7991
05:07:52,520 --> 05:07:56,760
ACCESS TO DO TELEHEALTH OR

7992
05:07:56,760 --> 05:07:57,880
TELERESEARCH (INAUDIBLE) LAPTOPS

7993
05:07:57,880 --> 05:07:59,920
OR SMART PHONES BUT TWO, ALSO AN

7994
05:07:59,920 --> 05:08:01,520
OPPORTUNITY FOR RESEARCH TO

7995
05:08:01,520 --> 05:08:03,320
BRING IN PATIENTS WHO PROBABLY

7996
05:08:03,320 --> 05:08:05,520
WOULD NOT HAVE BEEN ABLE TO

7997
05:08:05,520 --> 05:08:06,840
PARTICIPATE OTHERWISE BECAUSE OF

7998
05:08:06,840 --> 05:08:14,320
GEOGRAPHIC LIMITATIONS.  

7999
05:08:14,320 --> 05:08:15,720
>> THANK YOU. DR. ARM TOE.

8000
05:08:15,720 --> 05:08:18,120
>> THANK YOU, TIFFANY. WE HAVE

8001
05:08:18,120 --> 05:08:19,920
ALL -- HAD ALWAYS HAD A METHOD

8002
05:08:19,920 --> 05:08:22,120
OF COMMUNICATING ELECTRONICALLY

8003
05:08:22,120 --> 05:08:23,680
WITH OUR PATIENTS SO MANY OF

8004
05:08:23,680 --> 05:08:26,680
THEM HAD DEVICES OR WERE USED TO

8005
05:08:26,680 --> 05:08:28,120
TALKING TO US BY PHONE OR

8006
05:08:28,120 --> 05:08:31,600
THROUGH EMAIL. SO THAT WAS

8007
05:08:31,600 --> 05:08:32,720
LITTLE LESS CHALLENGING FOR OUR

8008
05:08:32,720 --> 05:08:34,080
POPULATION BUT WE HAD NEVER --

8009
05:08:34,080 --> 05:08:39,440
WE DID NOT VIDEO VISIT SO THAT

8010
05:08:39,440 --> 05:08:41,160
WAS NERVE WRACKING BECAUSE YOU

8011
05:08:41,160 --> 05:08:42,840
CAN'T HAVE REAL CONVERSATIONS

8012
05:08:42,840 --> 05:08:47,360
AND CONNECTIONS AT FIRST. WHAT I

8013
05:08:47,360 --> 05:08:48,920
FOUND DIFFICULT INITIALLY

8014
05:08:48,920 --> 05:08:51,360
BESIDES IN THE MIDDLE OF

8015
05:08:51,360 --> 05:08:53,160
PANDEMIC WAS WHEN YOU MET A NEW

8016
05:08:53,160 --> 05:08:54,760
PATIENT YOU COULDN'T ENGAGE IN

8017
05:08:54,760 --> 05:08:58,520
THE WAY YOU WANTED BUT ALL OUR

8018
05:08:58,520 --> 05:09:03,440
PATIENTSNA WE HAD ESTABLISHED

8019
05:09:03,440 --> 05:09:04,840
FOUNDED REA-- FOUND IT

8020
05:09:04,840 --> 05:09:06,680
REASSURING TO CONNECT THROUGH

8021
05:09:06,680 --> 05:09:07,600
VIDEO, WE WERE EXCITED TO SEE

8022
05:09:07,600 --> 05:09:09,560
PEOPLE THROUGH VIDEO REASSURING

8023
05:09:09,560 --> 05:09:10,720
THEM ABOUT THE PANDEMIC AND

8024
05:09:10,720 --> 05:09:11,760
UNDERSTAND THE REGULATIONS AND

8025
05:09:11,760 --> 05:09:14,760
MANDATES.  SO THAT WAS VERY

8026
05:09:14,760 --> 05:09:19,520
HELPFUL.  

8027
05:09:19,520 --> 05:09:23,320
>> THANKS SO MUCH. CAN YOU SHARE

8028
05:09:23,320 --> 05:09:25,720
LITTLE HAVE YOU USED TELEHEALTH

8029
05:09:25,720 --> 05:09:26,680
OR IS THIS SOMETHING NEW, WHAT

8030
05:09:26,680 --> 05:09:28,320
ARE YOUR THOUGHTS?

8031
05:09:28,320 --> 05:09:33,000
>> THANK YOU TIFFANY. I BECAME A

8032
05:09:33,000 --> 05:09:34,040
RARE DISEASE PATIENT OR FOUND

8033
05:09:34,040 --> 05:09:36,120
OUT I HAD A RARE DISEASE AT THE

8034
05:09:36,120 --> 05:09:38,920
HEIGHT OF THE PANDEMIC. SO

8035
05:09:38,920 --> 05:09:41,760
TELEHEALTH THAT WAS MY FIRST

8036
05:09:41,760 --> 05:09:45,320
ENGAGEMENT WITH TELEHEALTH. A

8037
05:09:45,320 --> 05:09:46,760
MENTIONED EARLIER A WEEK AFTER

8038
05:09:46,760 --> 05:09:50,520
DIAGNOSIS I STARTED SEEING DR.

8039
05:09:50,520 --> 05:09:51,520
D'ARMIENTO SO WHILE IT WAS NEW

8040
05:09:51,520 --> 05:09:55,160
TO ME, IT'S BEEN SORT OF MY

8041
05:09:55,160 --> 05:09:56,400
NORMAL SINCE MY DIAGNOSIS

8042
05:09:56,400 --> 05:09:59,320
BECAUSE THAT IS ALL I HAVE BEEN

8043
05:09:59,320 --> 05:10:02,640
DOING IS CARING FOR VIA

8044
05:10:02,640 --> 05:10:04,760
TELEHEALTH WHETHER THAT IS VIDEO

8045
05:10:04,760 --> 05:10:07,640
OR AUDIO CALLS. SO YEAH, I WAS

8046
05:10:07,640 --> 05:10:08,480
DEFINITELY, IT WAS NEW TO ME BUT

8047
05:10:08,480 --> 05:10:11,960
I WAS IN A DESPERATE SITUATION

8048
05:10:11,960 --> 05:10:14,480
AND I WASN'T THINKING ABOUT PROS

8049
05:10:14,480 --> 05:10:17,720
AND CONS OF TELEHEALTH, HAPPY TO

8050
05:10:17,720 --> 05:10:19,400
HAVE DOCTOR THAT NEW WHAT SHE

8051
05:10:19,400 --> 05:10:21,720
WAS DOING AND COULD TAKE CARE OF

8052
05:10:21,720 --> 05:10:25,920
ME AND GROUND ME AS I WAS

8053
05:10:25,920 --> 05:10:27,400
SPIRALING DURING THE FIRST FEW

8054
05:10:27,400 --> 05:10:31,040
MONTHS OF MY DIAGNOSIS. SO IT

8055
05:10:31,040 --> 05:10:34,640
CAME, IT TOOK STRESS AND ANXIETY

8056
05:10:34,640 --> 05:10:38,240
FROM ME AND MY CAREGIVERS WHICH

8057
05:10:38,240 --> 05:10:41,600
WERE MY PARENTS SO IT CAME -- IT

8058
05:10:41,600 --> 05:10:45,560
WAS A GOOD THING FOR ME. AS

8059
05:10:45,560 --> 05:10:47,120
MENTIONED TO THIS DAY I'M STILL

8060
05:10:47,120 --> 05:10:50,360
SEEING DR. D'ARMIENTO VIA

8061
05:10:50,360 --> 05:10:51,080
TELEHEALTH AND HOPE TO CONTINUE

8062
05:10:51,080 --> 05:10:54,560
TO DO SO. SO IT'S BEEN AN

8063
05:10:54,560 --> 05:10:55,520
INTERESTING, OVERALL POSITIVE

8064
05:10:55,520 --> 05:10:57,720
EXPERIENCE.  

8065
05:10:57,720 --> 05:11:01,880
>> THANKS SO MUCH. SO WITH

8066
05:11:01,880 --> 05:11:04,520
TELEHEALTH TELEMEDICINE IT

8067
05:11:04,520 --> 05:11:06,120
INVOLVES ALL DIFFERENT -- CAN

8068
05:11:06,120 --> 05:11:07,400
INVOLVE ALL DIFFERENT TYPES OF

8069
05:11:07,400 --> 05:11:09,960
TECHNOLOGIES. CURIOUS WHETHER

8070
05:11:09,960 --> 05:11:11,320
ANY OTHER DIFFERENT APPLICATIONS

8071
05:11:11,320 --> 05:11:14,200
THAT YOU MAY HAVE USED DURING

8072
05:11:14,200 --> 05:11:18,760
THE THE TELEHEALTH EXMEANS THAT

8073
05:11:18,760 --> 05:11:28,720
YOU UTILIZED. 

8074
05:11:28,720 --> 05:11:31,720
>> -- EXPERIENCE.

8075
05:11:31,720 --> 05:11:34,320
>> EVERYONE HAD PULSE OX WHICH

8076
05:11:34,320 --> 05:11:36,640
HELPED US A LOT.  IT WAS A

8077
05:11:36,640 --> 05:11:38,240
LITTLE FRUSTRATING, THERE WAS

8078
05:11:38,240 --> 05:11:40,600
SOME THINGS THAT WE HAD TO DEAL

8079
05:11:40,600 --> 05:11:44,480
WITH WHERE WE WOULD HAVE CHRISTY

8080
05:11:44,480 --> 05:11:47,280
LOG WHAT WAS GOING ON AND SHOW

8081
05:11:47,280 --> 05:11:48,920
US CERTAIN THINGS TO LOOK AT THE

8082
05:11:48,920 --> 05:11:57,880
COLOR OF THINGS AND SO IT WAS

8083
05:11:57,880 --> 05:12:00,120
CHALLENGING BUT WE DON'T RELY ON

8084
05:12:00,120 --> 05:12:03,560
TECHNOLOGY OUTSIDE OF -- SO I --

8085
05:12:03,560 --> 05:12:05,360
IT WAS HARD NOT TO LISTEN TO

8086
05:12:05,360 --> 05:12:06,640
PEOPLE'S LUNGS BECAUSE HA IS

8087
05:12:06,640 --> 05:12:08,000
SOMETHING THAT WE CAN PICK UP ON

8088
05:12:08,000 --> 05:12:12,880
THINGS AND THAT WAS FRUSTRATING.

8089
05:12:12,880 --> 05:12:15,520
THAT IS WHAT WE DID.  

8090
05:12:15,520 --> 05:12:22,360
>> ANYTHING, DR. GROPMAN.

8091
05:12:22,360 --> 05:12:24,560
>> TO ADOPT THE EXAM AND USING

8092
05:12:24,560 --> 05:12:26,880
THE FAMILY TO FACILITATE PARTS

8093
05:12:26,880 --> 05:12:28,400
OF THE EXAM THAT WE USUALLY DO

8094
05:12:28,400 --> 05:12:30,120
HANDS ON OR AFTERWARDS HAVING A

8095
05:12:30,120 --> 05:12:31,560
FAMILY SEND US PICTURES OF

8096
05:12:31,560 --> 05:12:32,800
THINGS IF WE ARE INTERESTED IN

8097
05:12:32,800 --> 05:12:34,520
THE WAY THE FACE LOOKS OR

8098
05:12:34,520 --> 05:12:36,600
CREASES ON THE HANDS, IF WE

8099
05:12:36,600 --> 05:12:37,720
COULD ARE THE PATIENT MOVE UP TO

8100
05:12:37,720 --> 05:12:39,520
THE SCREEN, BUT OTHERWISE HAVE

8101
05:12:39,520 --> 05:12:43,600
TO SEND THE SCREEN SHOTS, OR

8102
05:12:43,600 --> 05:12:46,280
VIDEOS NEEDED MORE INFORMATION

8103
05:12:46,280 --> 05:12:47,520
WE ASK HEM TO SEND VIDEO TO US

8104
05:12:47,520 --> 05:12:54,600
AFTER. 

8105
05:12:54,600 --> 05:12:58,520
>> THIS IS FOR DR. D'ARMIENTO.

8106
05:12:58,520 --> 05:13:02,080
WAS THERE A SHARP PIVOT TO

8107
05:13:02,080 --> 05:13:02,720
TELEHEALTH DURING THE PANDEMIC?

8108
05:13:02,720 --> 05:13:07,640
I KNOW YOU AND DR. DROPMAN

8109
05:13:07,640 --> 05:13:09,840
MENTIONED -- GROPMAN MENTIONED

8110
05:13:09,840 --> 05:13:13,400
YOU UTILIZED TO A CERTAIN DEGREE

8111
05:13:13,400 --> 05:13:17,720
BUT A SHARP PIVOT TO COVID-19 TO

8112
05:13:17,720 --> 05:13:18,640
HAVE IT?

8113
05:13:18,640 --> 05:13:20,160
>> IT WAS SHARP PIVOT AND THE

8114
05:13:20,160 --> 05:13:21,440
HOSPITAL DIDN'T HAVE THE PERFECT

8115
05:13:21,440 --> 05:13:22,680
SYSTEM, HARD FOR THE PATIENTS TO

8116
05:13:22,680 --> 05:13:24,480
GET ON SO WE WOULD HAVE THEM USE

8117
05:13:24,480 --> 05:13:25,600
THEIR DEVICE BUT THEY COULDN'T

8118
05:13:25,600 --> 05:13:27,520
GET ON TO THE HOSPITAL SYSTEM.

8119
05:13:27,520 --> 05:13:29,400
BUT THEN THINGS MOVED RAPIDLY. I

8120
05:13:29,400 --> 05:13:33,520
WAS IMPRESSED BY THE PACE

8121
05:13:33,520 --> 05:13:34,720
SOMETHING WHICH MANY DESIRE FORD

8122
05:13:34,720 --> 05:13:36,120
A LISTENING TIME GOT IMPLEMENTED

8123
05:13:36,120 --> 05:13:39,720
WHEN IT WAS REALLY NECESSARY.  

8124
05:13:39,720 --> 05:13:42,720
IT WASN'T AS IF PEOPLE WEREN'T

8125
05:13:42,720 --> 05:13:43,720
REQUESTING TELEHEALTH FOR YEARS,

8126
05:13:43,720 --> 05:13:49,600
IT WAS JUST AMAZING HOW FAST WE

8127
05:13:49,600 --> 05:13:50,440
WERE TABLE DO THAT. NOW IT IS

8128
05:13:50,440 --> 05:13:53,520
CONVENIENT FOR US. WE DO --

8129
05:13:53,520 --> 05:13:56,520
SETTLED INTO -- I DON'T THINK

8130
05:13:56,520 --> 05:13:59,480
TELEHEALTH IS MOST APPROPRIATE.

8131
05:13:59,480 --> 05:14:01,080
TELEHEALTH MOST APPROPRIATE AT

8132
05:14:01,080 --> 05:14:02,520
CONSULTANT FOLLOW-UP AFTER

8133
05:14:02,520 --> 05:14:03,760
INITIAL DIAGNOSIS INCLUDING

8134
05:14:03,760 --> 05:14:07,800
DISCUSSION OF GENETIC TESTING OR

8135
05:14:07,800 --> 05:14:09,120
TREATMENT DECISIONS. WE FOUND

8136
05:14:09,120 --> 05:14:10,920
PATIENTS WITH EFFECTIVE LOCAL

8137
05:14:10,920 --> 05:14:11,920
PRIMARY CARE PHYSICIAN WILLING

8138
05:14:11,920 --> 05:14:15,320
TO WORK IN CONCERT WITH REMOTE

8139
05:14:15,320 --> 05:14:18,440
RARE DISEASE SPECIALIST WOULD

8140
05:14:18,440 --> 05:14:19,960
BEST SERVE BY TELEHEALTH. 

8141
05:14:19,960 --> 05:14:24,520
>> GREAT.  ALWAYS CURIOUS FROM

8142
05:14:24,520 --> 05:14:27,560
PATIENT'S PERSPECTIVE. ARE THERE

8143
05:14:27,560 --> 05:14:29,640
ANY IMPROVEMENTS OR DIFFERENCES

8144
05:14:29,640 --> 05:14:32,640
YOU WOULD LIKE TO SEE POSSIBLY

8145
05:14:32,640 --> 05:14:38,320
FUTURE TELEMED MINUTE

8146
05:14:38,320 --> 05:14:39,480
>> NOTHING COMES TO MIND AT THIS

8147
05:14:39,480 --> 05:14:41,960
POINT. I'M FORTUNATE TO HAVE HAD

8148
05:14:41,960 --> 05:14:43,720
ACCESS TO THE TECHNOLOGY I NEED

8149
05:14:43,720 --> 05:14:48,600
AND TO HAVE DOCTORS THAT KEPT AN

8150
05:14:48,600 --> 05:14:49,760
OPEN LINE OF COMMUNICATION

8151
05:14:49,760 --> 05:14:52,360
ALWAYS. I THINK I ONLY HAD A FEW

8152
05:14:52,360 --> 05:14:54,280
FACE TO FACE ZOOM CALLS A LOT OF

8153
05:14:54,280 --> 05:14:57,120
MY COMMUNICATION WITH D'ARMIENTO

8154
05:14:57,120 --> 05:14:59,120
OCCURRED BY TEXT OR BY PHONE

8155
05:14:59,120 --> 05:15:01,520
CALL AT ONE POINT I THINK AT THE

8156
05:15:01,520 --> 05:15:03,200
HEIGHT OF MY DISEASE I WAS

8157
05:15:03,200 --> 05:15:08,160
TEXTING HER EVERY DAY.  AND SO I

8158
05:15:08,160 --> 05:15:10,480
THINK TELEHEALTH NATURE OF

8159
05:15:10,480 --> 05:15:11,840
TELEHEALTH SINCE IT WAS MY FIRST

8160
05:15:11,840 --> 05:15:14,880
EXPERIENCE AS A RARE DISEASE

8161
05:15:14,880 --> 05:15:16,200
PATIENT, SET THE TONE FOR THAT

8162
05:15:16,200 --> 05:15:18,520
DIGITAL COMMUNICATION. IF YOU

8163
05:15:18,520 --> 05:15:20,320
REALLY COMFORTABLE DOING THAT SO

8164
05:15:20,320 --> 05:15:25,080
FOR THAT I'M GRATEFUL. IT HAS

8165
05:15:25,080 --> 05:15:27,760
BEEN AND OVERALL POSITIVE

8166
05:15:27,760 --> 05:15:30,400
EXPERIENCE. AND I HAVE BEEN

8167
05:15:30,400 --> 05:15:32,760
FORTUNATE TO HAVE GREAT LOCAL

8168
05:15:32,760 --> 05:15:35,640
PULMONOLOGISTS AS AS WELL WHO

8169
05:15:35,640 --> 05:15:38,320
WORKED IN COLLABORATION WITH DR.

8170
05:15:38,320 --> 05:15:42,120
D. SO IT KIND OF REALLY WAS ALL

8171
05:15:42,120 --> 05:15:43,880
THAT INIADED SO I DON'T SEE

8172
05:15:43,880 --> 05:15:50,600
ANYTHING MAJOR THAT AFFECTED ME

8173
05:15:50,600 --> 05:15:53,280
OR COULD BE DONE. I MISS SORT OF

8174
05:15:53,280 --> 05:15:54,320
MAKING THAT CONNECTION IN PERSON

8175
05:15:54,320 --> 05:15:57,120
WHICH IS SOMETHING THAT'S BEEN

8176
05:15:57,120 --> 05:15:59,920
MENTIONED BUT I HAVE -- NOTHING

8177
05:15:59,920 --> 05:16:01,080
MAJOR COMES TO MINE, I'M SORRY

8178
05:16:01,080 --> 05:16:02,000
THAT'S PROBABLY NOT THE ANSWER

8179
05:16:02,000 --> 05:16:07,320
YOU WANT. MY EXPERIENCE IS

8180
05:16:07,320 --> 05:16:08,720
DIFFERENT THAN EVERYONE ELSE'S

8181
05:16:08,720 --> 05:16:10,200
SO SOMEONE ELSE HERE SURE THEY

8182
05:16:10,200 --> 05:16:12,240
HAVE A DIFFERENCE ANSWER BUT

8183
05:16:12,240 --> 05:16:13,880
THAT IS SORT OF WHERE I'M AT

8184
05:16:13,880 --> 05:16:16,080
RIGHT NOW WITH TELEHEALTH. 

8185
05:16:16,080 --> 05:16:18,720
>> CHRISTY, THE FUNNEL RIFF IS

8186
05:16:18,720 --> 05:16:21,640
WHEN SHE HAD COME IN FOR X-RAY.

8187
05:16:21,640 --> 05:16:23,560
WE HAD NOT VISIBLY SEEN MY

8188
05:16:23,560 --> 05:16:25,480
PARTNER AND I -- LIKE SHE'S DOWN

8189
05:16:25,480 --> 05:16:26,920
THERE, SHE'S THERE AND WE WENT

8190
05:16:26,920 --> 05:16:28,520
OVER THERE AND SHE WAS GETTING

8191
05:16:28,520 --> 05:16:30,080
AN P RAY, WE WERE SO EXCITED TO

8192
05:16:30,080 --> 05:16:32,280
ACTUALLY SEE HER AND SHE WAS

8193
05:16:32,280 --> 05:16:33,480
KIND OF EXCITED.

8194
05:16:33,480 --> 05:16:35,120
>> THAT WAS THE FIRST TIME I MET

8195
05:16:35,120 --> 05:16:37,560
DR. D IN PERSON AND IT WAS SORT

8196
05:16:37,560 --> 05:16:39,560
OF BY CHANCE I HAD MEDICAL

8197
05:16:39,560 --> 05:16:41,040
EMERGENCY I WAS BROUGHT TO

8198
05:16:41,040 --> 05:16:43,840
COLUMBIA NEW YORK CITY -- RATHER

8199
05:16:43,840 --> 05:16:44,920
NEW YORK PRESBYTERIAN AND BY

8200
05:16:44,920 --> 05:16:46,840
CHANCE ABLE TO MEET THEM IN

8201
05:16:46,840 --> 05:16:50,280
PERSON BUT NEVER CARED FOR IN

8202
05:16:50,280 --> 05:16:51,520
PERSON SO A REALLY INTERESTING

8203
05:16:51,520 --> 05:16:54,720
JOURNEY AS A PATIENT.  

8204
05:16:54,720 --> 05:16:55,400
>> THANKS SO MUCH.

8205
05:16:55,400 --> 05:16:57,840
>> AS FOLLOW-UP TO THAT,

8206
05:16:57,840 --> 05:17:03,400
TELEMEDICINE IS NOT MEANT FOR AN

8207
05:17:03,400 --> 05:17:04,720
EMERGENCY SITUATION, HER

8208
05:17:04,720 --> 05:17:05,920
SITUATION WAS RARE BECAUSE OF

8209
05:17:05,920 --> 05:17:07,240
COVID AND WE LEARNED THAT WE

8210
05:17:07,240 --> 05:17:08,160
COULD MANAGE, THAT WAS

8211
05:17:08,160 --> 05:17:11,720
INTERESTING THAT WE COULD MANAGE

8212
05:17:11,720 --> 05:17:13,320
SOMEONE THROUGH TELEHEALTH WHO

8213
05:17:13,320 --> 05:17:17,360
HAD A VERY CRITICAL EVENT.

8214
05:17:17,360 --> 05:17:18,840
HIGHLY RECOMMEND THAT THAT SORT

8215
05:17:18,840 --> 05:17:20,400
OF THING NOT BE DONE TYPICALLY,

8216
05:17:20,400 --> 05:17:23,000
THAT YOU SEE THAT KIND OF PERSON

8217
05:17:23,000 --> 05:17:27,200
ONCE AND MANAGE AFTERWARDS. 

8218
05:17:27,200 --> 05:17:29,760
>> RIGHT. THANK YOU SO MUCH.

8219
05:17:29,760 --> 05:17:31,760
QUESTION FOR DR. GROPMAN AND

8220
05:17:31,760 --> 05:17:35,920
ALONG THOSE SAME LINES, SO WHAT

8221
05:17:35,920 --> 05:17:37,240
WILL TELEHEALTH NOT WORK AND ARE

8222
05:17:37,240 --> 05:17:41,080
THERE CASES WE SHOULDN'T DO

8223
05:17:41,080 --> 05:17:41,360
TELEHEALTH?

8224
05:17:41,360 --> 05:17:42,200
>> I CAN ANSWER IN TERMS OF

8225
05:17:42,200 --> 05:17:44,240
RESEARCH BECAUSE YOU HEARD THE

8226
05:17:44,240 --> 05:17:45,800
EXPLANATION IN TERMS OF HOW IT

8227
05:17:45,800 --> 05:17:48,520
WORKS CLINICALLY. THERE WAS A

8228
05:17:48,520 --> 05:17:50,000
QUICK TRANSITION FOR PATIENT

8229
05:17:50,000 --> 05:17:51,480
CARE BUT NOT SO MUCH FOR

8230
05:17:51,480 --> 05:17:54,520
RESEARCH BECAUSE ALL OF OUR

8231
05:17:54,520 --> 05:17:55,720
PROTOCOLS WERE WRITTEN ASSUMING

8232
05:17:55,720 --> 05:17:59,680
FACE TO FACE ENCOUNTER. SO WE

8233
05:17:59,680 --> 05:18:01,480
OBVIOUSLY HAD TO PUT SOME TRIALS

8234
05:18:01,480 --> 05:18:03,600
ON HOLD BECAUSE WE COULDN'T DO

8235
05:18:03,600 --> 05:18:05,360
THEM REMOTELY BUT OTHERS WE HAD

8236
05:18:05,360 --> 05:18:07,160
TO CHANGE PROTOCOLS TO ALLOW

8237
05:18:07,160 --> 05:18:10,480
ELECTRONIC CONSENTING FOR

8238
05:18:10,480 --> 05:18:11,680
EXAMPLE, FOR PORGESES OF THE

8239
05:18:11,680 --> 05:18:13,640
EVALUATION TO BE DONE REMOTELY

8240
05:18:13,640 --> 05:18:18,240
AND OTHER PORTIONS, TRIKER

8241
05:18:18,240 --> 05:18:19,320
GETTING BLOOD DONE WE WERE ABLE

8242
05:18:19,320 --> 05:18:22,120
TO SUBSTITUTE OUT THESE CHEEK

8243
05:18:22,120 --> 05:18:23,760
SWABS AFTER DNA SAMPLES RATHER

8244
05:18:23,760 --> 05:18:26,200
THAN HAVING PATIENTS GET BLOOD

8245
05:18:26,200 --> 05:18:27,240
DRAWN AND MAIL THAT TO THE

8246
05:18:27,240 --> 05:18:29,120
PATIENTS. I THINK DIFFERENT

8247
05:18:29,120 --> 05:18:31,680
ASPECTS OF THE EVALUATION AND

8248
05:18:31,680 --> 05:18:34,600
EXAM WERE NOT PERFECT BY

8249
05:18:34,600 --> 05:18:35,520
TELEMEDICINE, WE COULDN'T LOOK

8250
05:18:35,520 --> 05:18:36,840
IN THEIR EYES THOUGH I'M TOLD

8251
05:18:36,840 --> 05:18:40,520
THERE IS A TECHNOLOGY THE

8252
05:18:40,520 --> 05:18:41,360
OPHTHALMOLOGIST WHERE THEY ARE

8253
05:18:41,360 --> 05:18:44,200
ABLE TO GET A SOMEWHAT DECENT

8254
05:18:44,200 --> 05:18:46,000
VIEW OF THE PIE PUPIL, AND THEN

8255
05:18:46,000 --> 05:18:49,440
SOME ASPECTS OF NEUROLOGIC

8256
05:18:49,440 --> 05:18:50,040
EXAMINATION DYSMORPHOLOGY,

8257
05:18:50,040 --> 05:18:54,880
THOUGH THAT'S GETTING BETTER. IT

8258
05:18:54,880 --> 05:18:58,720
ALSO ALLOWED US TO GET RESEARCH

8259
05:18:58,720 --> 05:18:59,840
DATA IN WAYS THAT WE WEREN'T

8260
05:18:59,840 --> 05:19:01,720
INTENDING SO FOR EXAMPLE, MANY

8261
05:19:01,720 --> 05:19:03,480
OF US NOTICE THAT OUR PATIENTS

8262
05:19:03,480 --> 05:19:05,160
WERE A LOT HEALTHIER. SO WE

8263
05:19:05,160 --> 05:19:10,920
WEREN'T HAVING AS MANY INTERIM

8264
05:19:10,920 --> 05:19:14,080
EVENTS SO PATIENTS HAVE ANEMIA

8265
05:19:14,080 --> 05:19:14,920
WHEN SUPPRESS STRESSED OR A

8266
05:19:14,920 --> 05:19:17,520
VIRAL TRIGGER OR OTHER ILLNESS.

8267
05:19:17,520 --> 05:19:19,280
AND WE NOTICED THAT WASN'T

8268
05:19:19,280 --> 05:19:21,440
HAPPENING. PART OF OUR PROTOCOLS

8269
05:19:21,440 --> 05:19:22,960
LONGITUDINAL STUDY ACTUALLY

8270
05:19:22,960 --> 05:19:24,600
REQUIRES THAT WHEN THE PATIENTS

8271
05:19:24,600 --> 05:19:26,080
HAVE AN EVENT THEY COME BACK IN

8272
05:19:26,080 --> 05:19:28,400
FOR RESEARCH ASSESSMENT AND

8273
05:19:28,400 --> 05:19:30,320
OTHER MEASURES THAT ARE TAKEN TO

8274
05:19:30,320 --> 05:19:31,520
SEE WHAT TYPE OF SYMPTOMS THEY

8275
05:19:31,520 --> 05:19:34,080
HAD AND IF THEY RECOVER. SO WE

8276
05:19:34,080 --> 05:19:35,320
HAD FEWER BECAUSE THE PATIENTS

8277
05:19:35,320 --> 05:19:36,920
WERE NOT GETTING SICK, THEY WERE

8278
05:19:36,920 --> 05:19:45,120
AT HOME.  THERE WAS

8279
05:19:45,120 --> 05:19:45,920
MISINFORMATION ABOUT THE

8280
05:19:45,920 --> 05:19:49,480
PANDEMIC AND VACCINES SO WE TOOK

8281
05:19:49,480 --> 05:19:50,840
THE OPPORTUNITY TO SET UPTOWN

8282
05:19:50,840 --> 05:19:52,440
HALLS WITH PATIENT ADVOCACY

8283
05:19:52,440 --> 05:19:55,760
GROUPS SO IT GAVE RESEARCHERS

8284
05:19:55,760 --> 05:19:56,640
MORE OPPORTUNITIES THAN

8285
05:19:56,640 --> 05:19:57,880
TYPICALLY TO INTERACT WITH THE

8286
05:19:57,880 --> 05:19:59,800
PATIENT ADVOCACY, USUALLY WE

8287
05:19:59,800 --> 05:20:04,160
JUST INTERACT WITH THEM ONCE A

8288
05:20:04,160 --> 05:20:05,840
YEAR, WE FELT IT WAS A GOOD

8289
05:20:05,840 --> 05:20:07,400
OPPORTUNITY AND IN OUR

8290
05:20:07,400 --> 05:20:08,440
RESPONSIBILITY TO UPDATE THEM ON

8291
05:20:08,440 --> 05:20:11,920
WHAT WAS HAPPENING WITH RESEARCH

8292
05:20:11,920 --> 05:20:15,760
AND ALSO INFORMATION ABOUT THE

8293
05:20:15,760 --> 05:20:18,720
VACCINES AND COVID. ALSO TO

8294
05:20:18,720 --> 05:20:20,840
COLLECT INFORMATION PATIENT

8295
05:20:20,840 --> 05:20:21,880
ADVOCACY GROUP COLLECTED

8296
05:20:21,880 --> 05:20:26,120
INFORMATION WHO GOT COVID WHAT

8297
05:20:26,120 --> 05:20:27,720
SOME OF THE MANIFESTATIONS WERE

8298
05:20:27,720 --> 05:20:29,720
THEY DIFFER WITH DISEASE. WHILE

8299
05:20:29,720 --> 05:20:32,160
SOME ON HOLD IT ALLOWED US TO

8300
05:20:32,160 --> 05:20:33,640
COLLECT DIFFERENT RESEARCH DATA

8301
05:20:33,640 --> 05:20:35,880
SO I FEEL LIKE WE DIDN'T SLOW

8302
05:20:35,880 --> 05:20:37,840
DOWN COMPLETELY, WE TRIED TO

8303
05:20:37,840 --> 05:20:39,920
KEEP RESEARCH GOING THOUGH IT

8304
05:20:39,920 --> 05:20:42,600
MAY HAVE BEEN A DIFFERENT

8305
05:20:42,600 --> 05:20:45,760
FORMAT. WHAT WE WERE USED TO

8306
05:20:45,760 --> 05:20:45,960
DOING.

8307
05:20:45,960 --> 05:20:49,160
>> ALL RIGHT. THANK YOU SO MUCH

8308
05:20:49,160 --> 05:20:54,680
SO I'M A LITTLE CURIOUS ABOUT

8309
05:20:54,680 --> 05:20:56,160
CAREGIVERS, FAMILY INVOLVEMENT,

8310
05:20:56,160 --> 05:21:01,400
CHANGING ENVIRONMENT. DR.

8311
05:21:01,400 --> 05:21:02,400
D'ARMIENTO CAN YOU COMMENT ON

8312
05:21:02,400 --> 05:21:02,600
THAT?

8313
05:21:02,600 --> 05:21:05,520
>> I DEAL WITH IT. I THINK ONE

8314
05:21:05,520 --> 05:21:06,800
THING THAT WAS VERY DIFFICULT

8315
05:21:06,800 --> 05:21:11,360
DURING VIRTUAL VISITS, USUALLY I

8316
05:21:11,360 --> 05:21:13,880
CAN MEET EVERYONE IN A SPACE

8317
05:21:13,880 --> 05:21:16,720
WHERE I CAN INTERACT WITH MY

8318
05:21:16,720 --> 05:21:18,120
PATIENTS THAT HAVE EYE CONTACT

8319
05:21:18,120 --> 05:21:18,880
OR COMMUNICATION WITH THE

8320
05:21:18,880 --> 05:21:23,200
FAMILY. THAT IS NOT REALLY EASY

8321
05:21:23,200 --> 05:21:25,320
IN TELEHEALTH USUALLY HAVE THE

8322
05:21:25,320 --> 05:21:26,920
PERSON -- NORMALLY YOU CAN

8323
05:21:26,920 --> 05:21:27,280
COMMENT ON THAT.

8324
05:21:27,280 --> 05:21:33,800
>> I WAS GOING TO SAY I WAS IN A

8325
05:21:33,800 --> 05:21:34,960
DESPERATE SITUATION AND MY

8326
05:21:34,960 --> 05:21:36,200
PARENTS WERE DESPERATE FOR

8327
05:21:36,200 --> 05:21:40,560
INFORMATION AN ANSWERS. SO MY

8328
05:21:40,560 --> 05:21:42,840
FIRST INITIAL FACE TO FACE ZOOM

8329
05:21:42,840 --> 05:21:44,920
CALL WITH DR. D'ARMIENTO AND DR.

8330
05:21:44,920 --> 05:21:47,560
(INAUDIBLE) I HAD PREPARED MY

8331
05:21:47,560 --> 05:21:50,880
MOM SORT OF, BEHIND ME LIKE

8332
05:21:50,880 --> 05:21:52,600
LEANING IN, IT WAS THIS AWKWARD

8333
05:21:52,600 --> 05:21:57,120
NATURE TO THE WHOLE THING. OF I

8334
05:21:57,120 --> 05:21:58,560
WASN'T THINKING AT THE TIME BUT

8335
05:21:58,560 --> 05:21:59,800
IN PREPARATION IS DISCUSSION I

8336
05:21:59,800 --> 05:22:00,880
WAS REFLECTING AND LIKE YEAH,

8337
05:22:00,880 --> 05:22:05,520
THAT WAS A WEIRD INTERACTION, I

8338
05:22:05,520 --> 05:22:07,520
CAN SENSE MY MOM'S ANXIETY, IT

8339
05:22:07,520 --> 05:22:13,240
WAS A VERY AWKWARD INTERACTION. 

8340
05:22:13,240 --> 05:22:14,280
WITH WE GOT ALL THE INFORMATION

8341
05:22:14,280 --> 05:22:15,720
WE NEEDED IN A TIMELY MANNER SO

8342
05:22:15,720 --> 05:22:17,600
NOT THINKING ABOUT THAT AT THE

8343
05:22:17,600 --> 05:22:19,520
TIME. BUT THAT'S SOMETHING THAT

8344
05:22:19,520 --> 05:22:24,000
COMES TO MIND NOW.  

8345
05:22:24,000 --> 05:22:28,000
>> WE CAN SENSE WHEN THEY GOT P

8346
05:22:28,000 --> 05:22:29,720
IN, 30 MINUTE WE'LL GET TO

8347
05:22:29,720 --> 05:22:31,520
A. 'S QUESTIONS, LET'S GET

8348
05:22:31,520 --> 05:22:34,520
HISTORY. BUT SHE'S QUITE RIGHT,

8349
05:22:34,520 --> 05:22:36,240
IT WAS VERY DISTINCT MEMORY FOR

8350
05:22:36,240 --> 05:22:42,280
BOTH OF US.  SO IT IS HARD TO

8351
05:22:42,280 --> 05:22:43,760
HAVE A GROUP CONVERSATION

8352
05:22:43,760 --> 05:22:49,960
OBVIOUSLY ON ZOOM. SOMETIMES WE

8353
05:22:49,960 --> 05:22:51,120
NEED HELP FROM CAREGIVERS SO

8354
05:22:51,120 --> 05:22:53,160
THAT INSIGHT IS NOT ALWAYS

8355
05:22:53,160 --> 05:22:58,320
AVAILABLE ON ZOOM.  

8356
05:22:58,320 --> 05:23:01,080
>> I WANT TO ADD IN TERMS OF CAR

8357
05:23:01,080 --> 05:23:02,320
GIVEN, I WAS AT A POINT HAVING

8358
05:23:02,320 --> 05:23:05,520
TO HAVE PROCEDURE DONE EVERY DAY

8359
05:23:05,520 --> 05:23:06,960
AT HOME AND MY SISTER DID IT

8360
05:23:06,960 --> 05:23:10,720
HALF THE TIME SO BEING ABLE TO

8361
05:23:10,720 --> 05:23:14,440
TEXT OR CALL DR. D OR DR. GOLD

8362
05:23:14,440 --> 05:23:16,720
WITH QUESTIONS, MENTIONS ANY

8363
05:23:16,720 --> 05:23:18,520
PICTURES. THAT BROUGHT A LOT OF

8364
05:23:18,520 --> 05:23:20,840
RELIEF TO MY SISTER AND MY AT

8365
05:23:20,840 --> 05:23:22,080
HOME NURSE WHO HAD CONCERNS AT

8366
05:23:22,080 --> 05:23:25,120
TIMES SO GETTING IMMEDIATE

8367
05:23:25,120 --> 05:23:28,520
INFORMATION AND ANSWERS REALLY

8368
05:23:28,520 --> 05:23:32,760
HELPFUL. IN TERMS OF JUST NOT

8369
05:23:32,760 --> 05:23:34,080
HAVING TO WORRY ABOUT TRAVEL

8370
05:23:34,080 --> 05:23:35,720
WHICH IS ALSO MENTIONED IN THE

8371
05:23:35,720 --> 05:23:39,080
LOGISTICS OF GETTING SOMEWHERE,

8372
05:23:39,080 --> 05:23:41,360
WHAT I WAS NEEDING CARE AND

8373
05:23:41,360 --> 05:23:43,960
GUIDANCE I WAS NOT PHYSICALLY

8374
05:23:43,960 --> 05:23:47,640
MOBILE, NOT TO THE POINT I AM

8375
05:23:47,640 --> 05:23:49,840
NOW. HAVING TO LUG AN OXYGEN

8376
05:23:49,840 --> 05:23:51,320
TANK AROUND AND RECOVERING FROM

8377
05:23:51,320 --> 05:23:53,320
DIFFERENT PROCEDURES IT WAS A

8378
05:23:53,320 --> 05:23:59,080
HUGE LOAD OFF OF MY SHOULDERS,

8379
05:23:59,080 --> 05:23:59,720
PARENTS SHOULDERS WHO WOULD HAVE

8380
05:23:59,720 --> 05:24:01,240
TO DRAG ME TO NEW YORK CITY TO

8381
05:24:01,240 --> 05:24:04,800
SEE DOCTORS. SO THAT HELPED A

8382
05:24:04,800 --> 05:24:07,040
LOT. AND MADE SORT OF -- WE WERE

8383
05:24:07,040 --> 05:24:12,000
ABLE TO FOCUS ON MY RECOVERY

8384
05:24:12,000 --> 05:24:14,880
RATHER THAN LOGISTICS SO HUGELY

8385
05:24:14,880 --> 05:24:18,440
HELPFUL.  

8386
05:24:18,440 --> 05:24:22,680
>> ONE THING TO ADD, DURING THAT

8387
05:24:22,680 --> 05:24:27,640
TIME UNIQUE WITH COVID, LINK

8388
05:24:27,640 --> 05:24:29,400
WITH THE AL PA ONE FOUNDATION

8389
05:24:29,400 --> 05:24:32,720
COMMUNICATED WITH THE PATIENTS

8390
05:24:32,720 --> 05:24:34,120
FREQUENTLY SO THAT HELPED IN

8391
05:24:34,120 --> 05:24:36,720
ALSO WHAT WE NEEDED TO DO

8392
05:24:36,720 --> 05:24:38,280
THROUGH TELEMEDICINE BECAUSE

8393
05:24:38,280 --> 05:24:39,720
THEY HAVE SOME UNDERSTANDING

8394
05:24:39,720 --> 05:24:45,600
FROM THESE WEBINARS, WONDERFUL

8395
05:24:45,600 --> 05:24:47,600
WEBINARS, SO I THINK IT WAS

8396
05:24:47,600 --> 05:24:50,600
INTERESTING COLLABORATIVE CARE

8397
05:24:50,600 --> 05:24:51,640
FROM THE COMMUNITY OF PEOPLE

8398
05:24:51,640 --> 05:24:52,760
TAKING CARE OF PATIENTS IN THOSE

8399
05:24:52,760 --> 05:24:54,200
AREAS.  

8400
05:24:54,200 --> 05:24:55,760
>> SPEAKING OF THAT, DO YOU

8401
05:24:55,760 --> 05:25:00,840
HAPPEN TO KNOW OF ANY

8402
05:25:00,840 --> 05:25:03,320
INITIATIVES OR THINGS HAPPENING

8403
05:25:03,320 --> 05:25:08,160
OR HAPPENING FOR DIFFERENT

8404
05:25:08,160 --> 05:25:08,920
POPULATIONS WITH DIFFERENT

8405
05:25:08,920 --> 05:25:16,360
HEALTH EQUITY ISSUES, BECAUSE

8406
05:25:16,360 --> 05:25:18,800
CAN'T JUMP ON A PHONE OR UTILIZE

8407
05:25:18,800 --> 05:25:20,240
RESOURCES.  FAMILIAR WITH

8408
05:25:20,240 --> 05:25:20,800
ANYTHING HAPPENING?

8409
05:25:20,800 --> 05:25:24,360
>> THAT IS A GOOD -- MY -- OUR

8410
05:25:24,360 --> 05:25:25,360
HOSPITAL IN NEW YORK CITY AND

8411
05:25:25,360 --> 05:25:29,760
WASHINGTON HEIGHTS WE HAVE A

8412
05:25:29,760 --> 05:25:30,920
COMMUNITY OF PATIENTS THAT DON'T

8413
05:25:30,920 --> 05:25:33,880
HAVE RESOURCES. AS I SAID WE

8414
05:25:33,880 --> 05:25:38,200
HAVE BEEN COMMUNICATING THROUGH

8415
05:25:38,200 --> 05:25:41,080
TECHNOLOGY MOST OF THE TIME. AND

8416
05:25:41,080 --> 05:25:42,800
I THINK WE -- IT IS IMPORTANT TO

8417
05:25:42,800 --> 05:25:44,920
MAKE ADJUSTMENTS TO PEOPLE TO

8418
05:25:44,920 --> 05:25:46,880
ACCEPT NOT THE PERFECT VISIT,

8419
05:25:46,880 --> 05:25:48,400
SOMEONE IS ON THEIR CELL PHONE

8420
05:25:48,400 --> 05:25:51,120
IT IS OKAY AND I TAKE THE TIME.

8421
05:25:51,120 --> 05:25:54,800
THERE IS MANY PEOPLE ADVANCE

8422
05:25:54,800 --> 05:25:56,520
TECHNOLOGY BUT PEOPLE WORK AND

8423
05:25:56,520 --> 05:25:58,160
SOMETIMES THE ONLY TIME THEY CAN

8424
05:25:58,160 --> 05:26:00,720
VISIT IS UNFORTUNATELY INTO THE

8425
05:26:00,720 --> 05:26:02,280
BATHROOM OF THE WORKPLACE.

8426
05:26:02,280 --> 05:26:04,280
PHYSICIANS NEED TO BE

8427
05:26:04,280 --> 05:26:07,160
ACCOMMODATING TO PATIENTS NEEDS

8428
05:26:07,160 --> 05:26:08,720
ESPECIALLY NOW WHEN PEOPLE ARE

8429
05:26:08,720 --> 05:26:10,320
STRUGGLING AND THERE IS A LOT OF

8430
05:26:10,320 --> 05:26:12,800
ISSUES WE TRY TO FACILITATE

8431
05:26:12,800 --> 05:26:14,480
VISITS, WE DON'T WANT PATIENTS

8432
05:26:14,480 --> 05:26:17,600
TO BE LOST TO FOLLOW-UP. BECAUSE

8433
05:26:17,600 --> 05:26:18,880
OF THE STRESS THEY ARE UNDER

8434
05:26:18,880 --> 05:26:20,440
THOUGH WE OPENED UP, THEY MAY

8435
05:26:20,440 --> 05:26:22,000
NOT GET TO US. SO WE REACH OUT

8436
05:26:22,000 --> 05:26:24,880
AND SAY LET'S JUMP ON VIDEO

8437
05:26:24,880 --> 05:26:26,120
CALL, JUST CONNECT US SO WE CAN

8438
05:26:26,120 --> 05:26:29,760
SEE WHAT YOU ARE DOING.  

8439
05:26:29,760 --> 05:26:32,880
>> THANK YOU. SO DR. GROPMAN,

8440
05:26:32,880 --> 05:26:35,000
WHERE DID YOU GO TO FIND

8441
05:26:35,000 --> 05:26:36,280
INFORMATION FOR TOOLS

8442
05:26:36,280 --> 05:26:39,160
RESEARCHERS TO USE TO CONTINUE

8443
05:26:39,160 --> 05:26:41,480
RESEARCH LIKE DATA ON

8444
05:26:41,480 --> 05:26:43,160
RECRUITMENT RETENTION RATES,

8445
05:26:43,160 --> 05:26:45,080
SATISFACTION SURVEYS NOT

8446
05:26:45,080 --> 05:26:47,080
AVAILABLE, DO YOU HAVE ANY

8447
05:26:47,080 --> 05:26:51,320
EXPECTATIONS OF HOW DATA LOOK?

8448
05:26:51,320 --> 05:26:53,600
>> AS PART OF THE RARE DISEASE

8449
05:26:53,600 --> 05:26:54,720
CLINICAL DISEASE RESEARCH

8450
05:26:54,720 --> 05:26:56,560
NETWORK PRINCIPLE INVESTIGATORS

8451
05:26:56,560 --> 05:26:59,960
OF THE OTHER CONSORTIA WOULD BE

8452
05:26:59,960 --> 05:27:01,680
GRAMMING THE SAME QUESTIONS AND

8453
05:27:01,680 --> 05:27:04,760
WE HAD GUIDANCE FROM NIH

8454
05:27:04,760 --> 05:27:07,400
PARTNERS AND DMCC SO THEY HELPED

8455
05:27:07,400 --> 05:27:12,280
US WITH THE LANGUAGE FOR MOVING

8456
05:27:12,280 --> 05:27:14,120
PROTOCOLS OVER TO HAVE E CONSENT

8457
05:27:14,120 --> 05:27:17,280
AND STANDARDIZE ACROSS ALL THE

8458
05:27:17,280 --> 05:27:19,120
CONSORTIUM. SO I THINK IT IS

8459
05:27:19,120 --> 05:27:20,080
DIFFERENT FOR EACH DISEASE

8460
05:27:20,080 --> 05:27:22,600
POPULATION IN TERMS OF HOW MUCH

8461
05:27:22,600 --> 05:27:26,720
FACE TO FACE WAS PART OF YOUR

8462
05:27:26,720 --> 05:27:31,520
DATA COLLECTION VERSUS OTHER DIS

8463
05:27:31,520 --> 05:27:32,520
DISDISORDERS MORE SURVEY BASED

8464
05:27:32,520 --> 05:27:34,360
AND THEY NEED TO SEE THE SAME

8465
05:27:34,360 --> 05:27:36,040
PATIENTS IN THE SAME MANNER FACE

8466
05:27:36,040 --> 05:27:37,720
TO FACE BUT THIS WAS STARTING

8467
05:27:37,720 --> 05:27:39,800
FROM THE GROUND UP BECAUSE THERE

8468
05:27:39,800 --> 05:27:41,520
WAS NO PLAY BOOK, NOBODY HAD

8469
05:27:41,520 --> 05:27:43,200
DONE IT, JUST TRYING TO FIGURE

8470
05:27:43,200 --> 05:27:46,200
IT OUT ON OUR OWN WITH GUIDANCE

8471
05:27:46,200 --> 05:27:48,120
FROM NIH CMCC AND OTHER

8472
05:27:48,120 --> 05:27:51,440
CONSORTIUM WHAT THEY HAD DONE. 

8473
05:27:51,440 --> 05:27:53,880
SO I I THINK THERE'S DEFINITELY

8474
05:27:53,880 --> 05:27:55,920
GAPS IN THE DATA COLLECTED. 

8475
05:27:55,920 --> 05:27:58,800
DURING THE TIME WE WERE ABLE TO

8476
05:27:58,800 --> 05:28:01,560
GET A PILOT STUDY APPROVED TO

8477
05:28:01,560 --> 05:28:02,560
COMPARE TRADITIONAL

8478
05:28:02,560 --> 05:28:03,800
NEUROCOGNITIVE TESTING WHICH IS

8479
05:28:03,800 --> 05:28:04,920
FACE TO FACE WITH THE NIH

8480
05:28:04,920 --> 05:28:11,240
TOOLBOX.  AND DOING THE TOOLBOX

8481
05:28:11,240 --> 05:28:12,320
REMOTELY SO WE HAVE INFORMATION

8482
05:28:12,320 --> 05:28:14,360
ABOUT EFFECTIVENESS AND

8483
05:28:14,360 --> 05:28:16,520
APPLICABILITY OF THAT. AND HOW

8484
05:28:16,520 --> 05:28:19,080
IT COME PARIS TO TRADITIONAL

8485
05:28:19,080 --> 05:28:21,320
FACE TO FACE TESTING. I THINK

8486
05:28:21,320 --> 05:28:23,920
THAT IN OTHER WAYS WE CAME

8487
05:28:23,920 --> 05:28:25,320
TOGETHER AT CONSORTIUM TO

8488
05:28:25,320 --> 05:28:29,960
ADDRESS ISSUES WE NEVER HAVE SO

8489
05:28:29,960 --> 05:28:31,680
LOOKING AT ARE WE RECRUITING

8490
05:28:31,680 --> 05:28:33,320
PATIENTS FROM ALL ETHNIC

8491
05:28:33,320 --> 05:28:34,880
BACKGROUNDS. NOW THAT WE HAVE

8492
05:28:34,880 --> 05:28:36,480
TELEHEALTH IS THAT SOMETHING

8493
05:28:36,480 --> 05:28:42,080
THAT WILL IMPROVE OUR REACH

8494
05:28:42,080 --> 05:28:43,160
PATIENTS WHO DON'T PARTICIPATE

8495
05:28:43,160 --> 05:28:47,000
IN RESEARCH STUDIES.  WHILE SOME

8496
05:28:47,000 --> 05:28:49,080
THINGS WERE DIFFICULT TO DO, IT

8497
05:28:49,080 --> 05:28:51,120
ALLOWED MORE INNOVATIVE AND MORE

8498
05:28:51,120 --> 05:28:53,000
INCLUSIVE AND LOOK DEEPLY AT

8499
05:28:53,000 --> 05:28:55,480
PATIENT TO MAKE SURE OUR DATA IS

8500
05:28:55,480 --> 05:29:02,040
APPLICABLE ACROSS ALL ETHNIC

8501
05:29:02,040 --> 05:29:03,480
BACKGROUNDS.

8502
05:29:03,480 --> 05:29:06,600
>> THANK YOU.

8503
05:29:06,600 --> 05:29:08,240
>> ONE NICE THING AS COVID MOVED

8504
05:29:08,240 --> 05:29:11,080
TO THE NEW PHASE, WE CAN USE

8505
05:29:11,080 --> 05:29:14,120
TELEHEALTH AS A BACK UP. SO WHEN

8506
05:29:14,120 --> 05:29:16,560
THE OMICRON SURGE CAME THROUGH

8507
05:29:16,560 --> 05:29:17,920
NEW YORK CITY IN LATE NOVEMBER

8508
05:29:17,920 --> 05:29:19,520
EARLY DECEMBER, WE SHUT DOWN

8509
05:29:19,520 --> 05:29:22,320
BACK TELEHEALTH AND REASSURED

8510
05:29:22,320 --> 05:29:24,640
SENT OUT MAILINGS SAYING THIS IS

8511
05:29:24,640 --> 05:29:26,640
TEMPORARY. SO I THINK OUR

8512
05:29:26,640 --> 05:29:28,400
PATIENTS CAN BEGIN TO LEARN HOW

8513
05:29:28,400 --> 05:29:30,320
TO ADJUST. SO EVEN IN THE

8514
05:29:30,320 --> 05:29:33,960
CLINICAL TRIALS,S WE MANAGE

8515
05:29:33,960 --> 05:29:35,720
COVID BY USING BRINGING PATIENTS

8516
05:29:35,720 --> 05:29:37,720
IN USING TESTING MAKING THEM

8517
05:29:37,720 --> 05:29:42,680
FEEL COMFORTABLE. IT IS VERY

8518
05:29:42,680 --> 05:29:45,320
IMPORTANT WE ARE LOOKING AT

8519
05:29:45,320 --> 05:29:46,760
SAFETY AND WOULDN'T BRING THEM

8520
05:29:46,760 --> 05:29:50,080
IN UNLESS THERE WAS A HUGE

8521
05:29:50,080 --> 05:29:52,960
SURGE. SO TELL HEALTH ALLOWS US

8522
05:29:52,960 --> 05:29:55,320
THAT FLEXIBILITY. -- TELEHEALTH

8523
05:29:55,320 --> 05:29:58,240
ALLOWS THAT FLEXIBILITY. 

8524
05:29:58,240 --> 05:30:00,480
>> NOW THAT WE ARE MOVING INTO

8525
05:30:00,480 --> 05:30:03,560
ANOTHER PHASE OF THE PANDEMIC,

8526
05:30:03,560 --> 05:30:11,160
WHAT DO Y'ALL SEE DR. D'ARMIENTO

8527
05:30:11,160 --> 05:30:12,800
SPECIFICALLY, WOULD OUR

8528
05:30:12,800 --> 05:30:16,720
PHYSICIANS AND CLIENTS KEEP IT

8529
05:30:16,720 --> 05:30:20,560
GOING LIKE IT IS OR SOME TYPE OF

8530
05:30:20,560 --> 05:30:21,240
HYBRID, WHERE DO YOU THINK

8531
05:30:21,240 --> 05:30:22,520
FUTURE IS GOING TO

8532
05:30:22,520 --> 05:30:24,560
>> I THINK IT IS WHERE YOU

8533
05:30:24,560 --> 05:30:25,920
LOCATE BECAUSE IF YOU ARE

8534
05:30:25,920 --> 05:30:28,440
ALLOWED TO DO THAT BY

8535
05:30:28,440 --> 05:30:30,680
REGULATION, FOR TELEHEALTH. WE

8536
05:30:30,680 --> 05:30:31,920
INTEND AS LONG AS WE CAN TO KEEP

8537
05:30:31,920 --> 05:30:34,240
IT GOING AS A HYBRID, AS YOU

8538
05:30:34,240 --> 05:30:38,280
SAID.  IT ALLOWS US TO SEE --

8539
05:30:38,280 --> 05:30:41,120
COVER MORE FOLLOW-UPS THAT MIGHT

8540
05:30:41,120 --> 05:30:42,720
BE REQUIRED.  WE HAVE A PACKED

8541
05:30:42,720 --> 05:30:45,320
DIFFICULT TO SCHEDULE CLINIC AND

8542
05:30:45,320 --> 05:30:47,520
WE CAN EASILY ADD PEOPLE ON WHEN

8543
05:30:47,520 --> 05:30:48,560
TELEMEDICINE BECAUSE THEY JUST

8544
05:30:48,560 --> 05:30:49,840
WANT TO CONNECT WITH US. A LOT

8545
05:30:49,840 --> 05:30:51,400
OF PATIENTS ARE YOUNG AND

8546
05:30:51,400 --> 05:30:54,760
SOMETIMES HAVE QUESTIONS THAT

8547
05:30:54,760 --> 05:30:57,040
ARE NOT EVEN WHOLLY MEDICAL

8548
05:30:57,040 --> 05:30:57,920
QUESTIONS, NECESSARILY LIKE

8549
05:30:57,920 --> 05:30:59,640
PHYSICAL ISSUES BUT THEY HAVE

8550
05:30:59,640 --> 05:31:00,640
HEARD SOMETHING AND THEY NEED TO

8551
05:31:00,640 --> 05:31:03,880
TALK TO US. SO WE ARE NOW

8552
05:31:03,880 --> 05:31:05,920
DEVELOPING WAY WE CAN DO 15

8553
05:31:05,920 --> 05:31:09,120
MINUTES TO HAVE EVEN IF DOING --

8554
05:31:09,120 --> 05:31:12,280
SO HYBRID IS MOST IMPORTANT.

8555
05:31:12,280 --> 05:31:14,280
ALSO JUST ALSO HAVE TO REALIZE

8556
05:31:14,280 --> 05:31:16,520
TELEHEALTH REALLY DOESN'T WORK

8557
05:31:16,520 --> 05:31:19,560
WELL OBVIOUSLY IN ANY LIFE

8558
05:31:19,560 --> 05:31:22,440
THREATENING CONDITION. EXCEPT

8559
05:31:22,440 --> 05:31:26,360
COVID AND IN TERMS OF ACUTE

8560
05:31:26,360 --> 05:31:27,480
ILLNESS THAT REQUIRED

8561
05:31:27,480 --> 05:31:30,480
INTERVENTION AND ALSO SOME

8562
05:31:30,480 --> 05:31:35,320
PATIENTS MAY HAVE LOW DIGITAL

8563
05:31:35,320 --> 05:31:36,320
LITERACY BUT SOMETIMES REQUIRE

8564
05:31:36,320 --> 05:31:42,840
MORE INTERACTION IN THE VISIT WE

8565
05:31:42,840 --> 05:31:45,080
USED TRANSLATION SERVICES ON

8566
05:31:45,080 --> 05:31:46,520
TELL HEALTH BUT SOMETIMES THOSE

8567
05:31:46,520 --> 05:31:48,320
WORK BETTER IN PERSON SO YOU

8568
05:31:48,320 --> 05:31:49,480
HAVE TO JUDGE EACH OF THOSE

8569
05:31:49,480 --> 05:31:54,200
INDIVIDUALLY.  I HOPE IT'S HERE

8570
05:31:54,200 --> 05:31:55,960
TO STAY. I REALLY DO. I THINK IT

8571
05:31:55,960 --> 05:32:01,080
HELPS US A LOT.  I LIKE WHAT DR.

8572
05:32:01,080 --> 05:32:02,520
GROPMAN WAS SAYING WE CAN THINK

8573
05:32:02,520 --> 05:32:04,560
ABOUT WAYS TO INCORPORATE

8574
05:32:04,560 --> 05:32:08,000
TECHNOLOGY TELEHEALTH IN

8575
05:32:08,000 --> 05:32:08,840
RESEARCH, THAT WOULD BE GREAT

8576
05:32:08,840 --> 05:32:10,720
FOR RESEARCH STUDIES BECAUSE

8577
05:32:10,720 --> 05:32:13,360
SOMETIMES WORKING PATIENTS CAN

8578
05:32:13,360 --> 05:32:15,040
PARTICIPATE IN THOSE TRIALS AND

8579
05:32:15,040 --> 05:32:16,520
WHEN YOU HAVE OTHER METHODS THEY

8580
05:32:16,520 --> 05:32:19,960
CAN ENGAGE, AND NOT LOSE TIME AT

8581
05:32:19,960 --> 05:32:21,200
WORK YOU MIGHT GET MORE

8582
05:32:21,200 --> 05:32:26,280
PARTICIPATION.  

8583
05:32:26,280 --> 05:32:28,560
>> THANK YOU. ANY SUGGESTIONS ON

8584
05:32:28,560 --> 05:32:30,080
FUTURE OF TELEHEALTH OR THINGS

8585
05:32:30,080 --> 05:32:33,200
YOU WOULD LIKE TO SEE? 

8586
05:32:33,200 --> 05:32:35,560
>> ECHOING DR. D'ARMIENTO BUT I

8587
05:32:35,560 --> 05:32:37,560
DO HOPE IT IS HERE TO STAY AS

8588
05:32:37,560 --> 05:32:42,520
WELL FOR THOSE WHO AT BEST WORKS

8589
05:32:42,520 --> 05:32:45,200
FOR. I AS I MENTIONED EARLIER,

8590
05:32:45,200 --> 05:32:47,680
IT WORKED WELL FOR ME BECAUSE I

8591
05:32:47,680 --> 05:32:50,600
HAD WONDERFUL LOCAL

8592
05:32:50,600 --> 05:32:51,320
PULMONOLOGIST WHO WAS ACTUALLY I

8593
05:32:51,320 --> 05:32:54,640
WOULD GO TO AND HAVE TESTS DONE

8594
05:32:54,640 --> 05:32:55,440
AND SWORD OF GET THE GUIDANCE

8595
05:32:55,440 --> 05:33:01,280
AND INSIGHT FROM DR. D'ARMIENTO,

8596
05:33:01,280 --> 05:33:04,120
HAVING THAT IN PERSON CARE IS

8597
05:33:04,120 --> 05:33:06,560
NECESSARY, DEPENDING ON YOUR

8598
05:33:06,560 --> 05:33:08,520
NEEDS AND YOUR HEALTH BUT IN

8599
05:33:08,520 --> 05:33:11,800
TERMS OF JUST CONNECTING AND

8600
05:33:11,800 --> 05:33:13,240
GETTING INFORMATION AND THE

8601
05:33:13,240 --> 05:33:14,320
SCIENCE TELEHEALTH HAS BEEN

8602
05:33:14,320 --> 05:33:15,840
WONDERFUL RESOURCE FOR ME AND

8603
05:33:15,840 --> 05:33:20,480
FOR MY FAMILY.  SO I HOPE IT IS

8604
05:33:20,480 --> 05:33:21,920
HERE TO STAY AND I PLAN TO

8605
05:33:21,920 --> 05:33:25,600
CONTINUE SEEING DR. D'ARMIENTO,

8606
05:33:25,600 --> 05:33:29,040
THAT WAY, UNTIL I CAN HOPEFULLY

8607
05:33:29,040 --> 05:33:30,720
MAKE IT THERE IN PERSON. WHAT

8608
05:33:30,720 --> 05:33:32,160
I'M NOT THERE IN PERSON THAT

8609
05:33:32,160 --> 05:33:34,040
MEANS THINGS ARE GOING WELL SO I

8610
05:33:34,040 --> 05:33:35,120
ALSO HOPE I DON'T SEE YOU IN

8611
05:33:35,120 --> 05:33:38,720
PERSON. SOON. KNOWING I HAVE

8612
05:33:38,720 --> 05:33:42,120
THEM AS RESOURCE MUCH MORE

8613
05:33:42,120 --> 05:33:43,760
EASILY THAN I WOULD HAVE

8614
05:33:43,760 --> 05:33:46,680
TELEHEALTH DIDN'T EXIST. SO I DO

8615
05:33:46,680 --> 05:33:49,120
HOPE IT IS HERE TO STAY.  

8616
05:33:49,120 --> 05:33:52,120
>> THANK YOU. LAST COMMENTS FROM

8617
05:33:52,120 --> 05:33:55,680
DR. GROPMAN ON FUTURE OF

8618
05:33:55,680 --> 05:33:57,280
TELEHEALTH AND RESEARCH.

8619
05:33:57,280 --> 05:33:58,960
>> I THINK WHICH NEED TO

8620
05:33:58,960 --> 05:34:00,960
LEVERAGE WHAT TELEHEALTH AND

8621
05:34:00,960 --> 05:34:05,280
TECHNOLOGY CAN PROVIDE US FOR

8622
05:34:05,280 --> 05:34:07,160
YOU KNOW INVESTIGATIVE RESEARCH.

8623
05:34:07,160 --> 05:34:08,600
MONITORING FROM AFAR, THERE'S

8624
05:34:08,600 --> 05:34:10,120
SOME SORT OF MONITOR THAT CAN BE

8625
05:34:10,120 --> 05:34:15,160
SENT TO THE PATIENT, WEARABLE

8626
05:34:15,160 --> 05:34:17,960
DEVICES. I HI THE LID IS

8627
05:34:17,960 --> 05:34:20,120
PARTIALLY OFF OF THE BOX SO TO

8628
05:34:20,120 --> 05:34:21,640
SPEAK BUT WE REALLY NEED TO

8629
05:34:21,640 --> 05:34:27,280
DELVE INSIDE AND SEE HOW WE CAN

8630
05:34:27,280 --> 05:34:29,480
EXPAND TECHNOLOGY TO CAPTURE

8631
05:34:29,480 --> 05:34:32,040
EVENTS IN REAL TIME. IN

8632
05:34:32,040 --> 05:34:33,640
PATIENTS' LIVES THAT MAYBE MORE

8633
05:34:33,640 --> 05:34:36,360
MEANINGFUL THAN WE BRING INTO

8634
05:34:36,360 --> 05:34:37,360
OUR SITUATION TO EXPAND REACH

8635
05:34:37,360 --> 05:34:40,760
ACROSS GEOGRAPHIES AND PATIENTS

8636
05:34:40,760 --> 05:34:43,400
WHO WOULD BE ABLE TO CAP CAPTURE

8637
05:34:43,400 --> 05:34:46,720
AND TO REALLY PUSH THE

8638
05:34:46,720 --> 05:34:48,560
ENENVELOPE FORWARD AND JUST PUT

8639
05:34:48,560 --> 05:34:49,920
OUR HEADS TOGETHER AND THINK

8640
05:34:49,920 --> 05:34:53,320
ABOUT HOW WE CAN BE INNOVATIVE

8641
05:34:53,320 --> 05:34:56,600
AND CONDUCT RESEARCH THAT REALLY

8642
05:34:56,600 --> 05:34:57,960
INFORMS WHAT IS IMPORTANT TO THE

8643
05:34:57,960 --> 05:35:00,920
PATIENTS AND THEIR DAY TO DAY

8644
05:35:00,920 --> 05:35:03,200
LIVES. 

8645
05:35:03,200 --> 05:35:04,760
>> THANK YOU SO MUCH ESPECIALLY

8646
05:35:04,760 --> 05:35:08,560
TO PANELISTS AND HEIDI, WE

8647
05:35:08,560 --> 05:35:09,720
CERTAINLY -- I CERTAINLY LEARNED

8648
05:35:09,720 --> 05:35:12,480
A LOT SO I HOPE THOSE WATCHING

8649
05:35:12,480 --> 05:35:13,400
ARE ALSO RECEIVING INFORMATION

8650
05:35:13,400 --> 05:35:25,720
TOO. THANK YOU.  

8651
05:35:25,720 --> 05:35:31,720
>> WELCOME TO THE LAST SESSION

8652
05:35:31,720 --> 05:35:33,160
ABOUT JOURNEY DOWN THE LONG AND

8653
05:35:33,160 --> 05:35:34,680
WINDING ROAD OF DIAGNOSTIC

8654
05:35:34,680 --> 05:35:37,000
ODYSSEY FOR RARE AND UNDIAGNOSED

8655
05:35:37,000 --> 05:35:39,200
CONDITIONS.  YOU MADE IT. IN

8656
05:35:39,200 --> 05:35:40,360
THIS SESSION WE BROUGHT YOU

8657
05:35:40,360 --> 05:35:42,120
PANEL OF NIH PROFESSIONALS,

8658
05:35:42,120 --> 05:35:43,920
PATIENTS, AND CAREGIVERS WHO

8659
05:35:43,920 --> 05:35:47,760
WILL SHARE HAIR EXPERIENCE FROM

8660
05:35:47,760 --> 05:35:49,120
THEIR DIAGNOSTIC ODYSSEY. ALSO

8661
05:35:49,120 --> 05:35:51,920
WE WILL PROVIDE YOU WITH USEFUL

8662
05:35:51,920 --> 05:35:56,360
TOOLS AND RESOURCES. OUR FIRST

8663
05:35:56,360 --> 05:36:00,320
PANELIST IS DR. CYNTHIA TIFFT

8664
05:36:00,320 --> 05:36:02,800
FROM THE NATIONAL RESEARCH

8665
05:36:02,800 --> 05:36:05,600
INSTITUTE, NIH. DIRECTOR OF THE

8666
05:36:05,600 --> 05:36:06,520
UNDIAGNOSED DISEASE Z PROGRAM

8667
05:36:06,520 --> 05:36:08,320
AND WILL PROVIDE A SHORT

8668
05:36:08,320 --> 05:36:09,360
OVERVIEW WHAT IS DIAGNOSTIC

8669
05:36:09,360 --> 05:36:15,800
ODYSSEY.  OUR NEXT PANELIST IS

8670
05:36:15,800 --> 05:36:21,600
TROY EVANS. HE HAS BEEN

8671
05:36:21,600 --> 05:36:22,760
UNDIAGNOSED DISEASE FIGHTER FOR

8672
05:36:22,760 --> 05:36:28,120
15 YEARS. HE IS ANSWERING

8673
05:36:28,120 --> 05:36:29,120
UNDIAGNOSED DISEASE PROBLEM AS A

8674
05:36:29,120 --> 05:36:32,840
KNOWN UDM AS A PATIENT IN 2018

8675
05:36:32,840 --> 05:36:37,240
BY VISITING THE CLINICAL SITE.

8676
05:36:37,240 --> 05:36:40,120
OVER DIAGNOSTIC HAS NOT BEEN

8677
05:36:40,120 --> 05:36:42,480
MADE HE IS CONFIDENT UDM WILL BE

8678
05:36:42,480 --> 05:36:46,440
ABLE TO HELP HIM LIKE HAS MANY

8679
05:36:46,440 --> 05:36:50,440
OTHERS. OUR NEXT PANELIST IS

8680
05:36:50,440 --> 05:36:55,960
ERIKA. FROM TEXAS. HER YOUNGEST

8681
05:36:55,960 --> 05:37:00,240
DAUGHTER SEVEN YEARS OLD WAS UND

8682
05:37:00,240 --> 05:37:05,080
PATIENT AND DIAGNOSED BY A RARE

8683
05:37:05,080 --> 05:37:09,160
NEUROGENETIC DISORDER. OUR NEXT

8684
05:37:09,160 --> 05:37:11,200
PANELIST ARE MONIQUE AND HER

8685
05:37:11,200 --> 05:37:13,920
DAUGHTER VIVIANNE. BOTH ARE RARE

8686
05:37:13,920 --> 05:37:16,200
DISEASE PATIENTS AND TREATED AT

8687
05:37:16,200 --> 05:37:20,920
THE NIH. THEY DIEING MOST HICK

8688
05:37:20,920 --> 05:37:23,080
ODYSSEY IS A FAMILY STORY WHERE

8689
05:37:23,080 --> 05:37:26,400
ONE GENERATION FACES THE UNKNOWN

8690
05:37:26,400 --> 05:37:28,160
SO THE NEXT GENERATION CAN HAVE

8691
05:37:28,160 --> 05:37:33,040
A CHANCE TO LIVE A NORMAL LIFE.

8692
05:37:33,040 --> 05:37:37,920
OUR NEXT PANELIST IS TERRENCE

8693
05:37:37,920 --> 05:37:38,640
AND HIS DAUGHTER TERRAN FROM

8694
05:37:38,640 --> 05:37:42,360
SOUTH CAROLINA. TERRENCE IS A 20

8695
05:37:42,360 --> 05:37:46,720
YEAR VETERAN WITH DEPARTMENT

8696
05:37:46,720 --> 05:37:49,720
SOUTH CAROLINA. HIS DAUGHTER

8697
05:37:49,720 --> 05:37:54,200
TERRAN HAS BEEN COMING TO THE

8698
05:37:54,200 --> 05:37:57,600
NIH SINCE 2014, DIAGNOSE WITH

8699
05:37:57,600 --> 05:38:01,080
MESOTHELIOMA IN 2014 AND BEGAN

8700
05:38:01,080 --> 05:38:06,640
CLINICAL TRIAL THERE IN 2015. 

8701
05:38:06,640 --> 05:38:08,920
FINALLY, OUR LAST PANELIST DR.

8702
05:38:08,920 --> 05:38:12,400
ERIC SID FROM THE NATIONAL

8703
05:38:12,400 --> 05:38:13,960
CENTER FOR TRANSLATIONAL

8704
05:38:13,960 --> 05:38:15,000
SCIENCES NIH. HE IS A PROGRAM

8705
05:38:15,000 --> 05:38:17,080
OFFICER OF THE OFFICE OF RARE

8706
05:38:17,080 --> 05:38:19,920
DISEASE RESEARCH ALSO KNOWN AS

8707
05:38:19,920 --> 05:38:21,720
ODR, HE WILL CONCLUDE OUR

8708
05:38:21,720 --> 05:38:36,040
SESSION. THANK YOU.  

8709
05:38:36,040 --> 05:38:38,520
>> GOOD AFTERNOON. WELCOME TO

8710
05:38:38,520 --> 05:38:41,120
NIH RARE DISEASE DAY.  IN THIS

8711
05:38:41,120 --> 05:38:42,720
SESSION YOU WILL HEAR SOME

8712
05:38:42,720 --> 05:38:44,560
COMPELLING STORIES FROM PATIENTS

8713
05:38:44,560 --> 05:38:47,360
AND CAREGIVERS ABOUT THEIR OWN

8714
05:38:47,360 --> 05:38:50,520
DIAGNOSTIC ODYSSEYS.  WHAT IS

8715
05:38:50,520 --> 05:38:54,720
THE DIAGNOSTIC ODYSSEY? FOR

8716
05:38:54,720 --> 05:38:55,640
AUTHORITATIVE INFORMATION I

8717
05:38:55,640 --> 05:39:00,000
OFTEN LOOK TO WEBSTER, WHO

8718
05:39:00,000 --> 05:39:01,320
DEFINE DIAGNOSIS AS ACTIVE

8719
05:39:01,320 --> 05:39:02,280
IDENTIFYING DISEASE -- ACT OF

8720
05:39:02,280 --> 05:39:03,960
IDENTIFYING A DISEASE ILLNESS OR

8721
05:39:03,960 --> 05:39:07,960
PROBLEM BY EXAMINING SOMEONE OR

8722
05:39:07,960 --> 05:39:10,000
SOMETHING. COULD BE A CLINICAL

8723
05:39:10,000 --> 05:39:12,920
EVALUATION OR PERHAPS LABORATORY

8724
05:39:12,920 --> 05:39:16,760
TEST OR MANY SUCH EVALUATIONS

8725
05:39:16,760 --> 05:39:19,120
AND TESTS. DIAGNOSIS IS A

8726
05:39:19,120 --> 05:39:21,120
STATEMENT OR CONCLUSION THAT

8727
05:39:21,120 --> 05:39:24,640
DESCRIBES THE REASON FOR DISEASE

8728
05:39:24,640 --> 05:39:26,320
ILLNESS OR PROBLEM. THAT REASON

8729
05:39:26,320 --> 05:39:28,360
COULD BE A CLINICAL DESCRIPTION

8730
05:39:28,360 --> 05:39:30,480
BUT IN THE WORLD OF RARE

8731
05:39:30,480 --> 05:39:32,600
DISEASES, IT IS OFTEN A GENETIC

8732
05:39:32,600 --> 05:39:37,360
OR MOLECULAR DIAGNOSIS. ODYSSEY.

8733
05:39:37,360 --> 05:39:38,920
A ALONG WANDERING JOURNEY FULL

8734
05:39:38,920 --> 05:39:40,680
OF ADVENTURES AND CHANGES OF

8735
05:39:40,680 --> 05:39:43,880
FORTUNE. THESE JOURNEYS ARE WHAT

8736
05:39:43,880 --> 05:39:46,520
WE WILL HEAR ABOUT THIS

8737
05:39:46,520 --> 05:39:48,320
AFTERNOON. I WOULD ADD THAT SOME

8738
05:39:48,320 --> 05:39:51,400
PATIENTS IN OUR UNDIAGNOSED

8739
05:39:51,400 --> 05:39:52,520
DISEASE PROGRAM COMPLAIN NOT

8740
05:39:52,520 --> 05:39:55,520
THEY DO NOT HAVE A DIAGNOSIS,

8741
05:39:55,520 --> 05:39:57,320
BUT THEY HAVE TOO MANY DIAGNOSES

8742
05:39:57,320 --> 05:39:59,000
AND NONE OF THEM FIT THE

8743
05:39:59,000 --> 05:40:03,720
SYMPTOMS.  UNDIAGNOSED

8744
05:40:03,720 --> 05:40:04,920
CONDITIONS EFFECT AT LEAST 3

8745
05:40:04,920 --> 05:40:06,520
MILLION AMERICANS. AND IN THE

8746
05:40:06,520 --> 05:40:08,080
UDP WE DIVIDE THEM INTO FOUR

8747
05:40:08,080 --> 05:40:11,640
POTENTIAL CATEGORIES.  THE

8748
05:40:11,640 --> 05:40:13,760
CONDITION IS RARE, AND DIFFICULT

8749
05:40:13,760 --> 05:40:18,560
TO IDENTIFY, IT REPRESENTS AN

8750
05:40:18,560 --> 05:40:20,160
UNUSUAL PRESENTATION OF MORE

8751
05:40:20,160 --> 05:40:21,720
COMMON CONDITION. THE CONDITION

8752
05:40:21,720 --> 05:40:25,720
IS A BLENDING OF MORE THAN ONE

8753
05:40:25,720 --> 05:40:30,040
DIAGNOSIS. OR THE CONDITION

8754
05:40:30,040 --> 05:40:31,680
ACTUALLY IS UNIQUE AND

8755
05:40:31,680 --> 05:40:36,200
REPRESENTS A NEW DISORDER. FOR

8756
05:40:36,200 --> 05:40:37,440
MANY THESE ARDUOUS JOURNEYS ARE

8757
05:40:37,440 --> 05:40:41,320
VERY LONG. WITH AVERAGE LENGTH

8758
05:40:41,320 --> 05:40:44,960
OF EIGHT YEARS.  THE RECEIVING

8759
05:40:44,960 --> 05:40:48,720
DIAGNOSIS CAN BE LIFE CHANGING

8760
05:40:48,720 --> 05:40:51,600
IN SEVERAL WAYS. DIAGNOSIS CAN

8761
05:40:51,600 --> 05:40:52,760
SOMETIMES OFFER POSSIBILITY OF

8762
05:40:52,760 --> 05:40:56,560
EXISTING TREATMENT. EVEN IN

8763
05:40:56,560 --> 05:40:58,280
ABSENCE OF DEFINITIVE TREATMENT

8764
05:40:58,280 --> 05:41:00,400
MAY PROVIDE POSSIBILITIES FOR

8765
05:41:00,400 --> 05:41:01,920
IMPROVE MANAGEMENT OR ACCESS TO

8766
05:41:01,920 --> 05:41:07,840
SERVICES.  MOLECULAR OR GENETIC

8767
05:41:07,840 --> 05:41:09,280
DIAGNOSIS MAY OPEN FAMILY

8768
05:41:09,280 --> 05:41:11,200
PLANNING OPTIONS. DIAGNOSIS MAY

8769
05:41:11,200 --> 05:41:12,880
OFFER CHANCE TO JOIN ADVOCACY

8770
05:41:12,880 --> 05:41:17,720
GROUP WITH OTHERS. WHO ARE

8771
05:41:17,720 --> 05:41:19,920
SIMILARLY AFFECTED FOR MUTUAL

8772
05:41:19,920 --> 05:41:21,400
SUPPORT OR RAISE WARENESS OR

8773
05:41:21,400 --> 05:41:25,240
FUNDING FOR NEW THERAPIES.  MOST

8774
05:41:25,240 --> 05:41:26,240
IMPORTANTLY, ALLOWS INDIVIDUALS

8775
05:41:26,240 --> 05:41:28,360
AND FAMILIES TO MOVE ON IN THE

8776
05:41:28,360 --> 05:41:32,920
NEXT PHASE OF THEIR BUSY LIVES. 

8777
05:41:32,920 --> 05:41:34,680
SO IN THE RARE DISEASE SPACE IF

8778
05:41:34,680 --> 05:41:37,480
YOU ASK ME WHAT IS IN THE NAME I

8779
05:41:37,480 --> 05:41:41,640
WOULD HAVE TO SAY EVERYTHING.

8780
05:41:41,640 --> 05:41:43,000
NOW I INVITE YOU TO LISTEN TO

8781
05:41:43,000 --> 05:41:48,720
SOME STORIES LONG JOURNEY

8782
05:41:48,720 --> 05:42:02,880
PATIENTS AND CAREGIVERS.  

8783
05:42:02,880 --> 05:42:06,080
>> I'M TROY EVANS UNDIAGNOSED

8784
05:42:06,080 --> 05:42:09,640
DISEASE MALE FROM UTAH,

8785
05:42:09,640 --> 05:42:10,720
NEUROMUSCULAR DISEASE FIGHTER

8786
05:42:10,720 --> 05:42:12,520
AND THAT KEY WORD FIGHT CROSSES

8787
05:42:12,520 --> 05:42:15,120
MY MIND MANY TIMES FOR DAY. MY

8788
05:42:15,120 --> 05:42:16,560
UNDIAGNOSE JOURNEY IS NOT

8789
05:42:16,560 --> 05:42:21,000
DIFFERENT FROM MOST, IN 2018 AT

8790
05:42:21,000 --> 05:42:23,640
AGE 33, I HAD THE OPPORTUNITY TO

8791
05:42:23,640 --> 05:42:26,480
BE SEEN BY DR. NELSON UNDIAGNOSE

8792
05:42:26,480 --> 05:42:28,480
DISEASE NETWORK TEAM UCLA

8793
05:42:28,480 --> 05:42:30,840
CLINICAL SIDE OF UDN, TO DATE I

8794
05:42:30,840 --> 05:42:32,520
REMAIN UNDIAGNOSED BUT I BELIEVE

8795
05:42:32,520 --> 05:42:37,000
THE DIAGNOSIS IS COMING.  THE

8796
05:42:37,000 --> 05:42:39,320
JOURNEY PRIOR TO UNDIAGNOSE

8797
05:42:39,320 --> 05:42:43,560
DISEASE NETWORK BEGAN IN 2015 AT

8798
05:42:43,560 --> 05:42:47,520
AGE 21. WHEN I FIRST NOTICED

8799
05:42:47,520 --> 05:42:48,320
SOMETHING DIFFERENT I HAD GROWN

8800
05:42:48,320 --> 05:42:50,600
UP ATHLETIC AND HITTING EVERY

8801
05:42:50,600 --> 05:42:52,520
MAJOR PHYSICAL MILESTONE, I WAS

8802
05:42:52,520 --> 05:42:54,320
REGULARLY SICK AND CONSIDERED

8803
05:42:54,320 --> 05:42:56,400
MYSELF TO BE PRETTY GOOD

8804
05:42:56,400 --> 05:42:57,960
PHYSICAL SHAPE. I PARTICIPATED

8805
05:42:57,960 --> 05:43:03,040
IN MANY ACTIVITIES AND SPORTS.  

8806
05:43:03,040 --> 05:43:04,160
UNTIL AFTER GOING FOR EXERCISE

8807
05:43:04,160 --> 05:43:06,920
RUN I NOTICE MY LEG MUSCLES WERE

8808
05:43:06,920 --> 05:43:08,640
UNUSUALLY SORE AND THAT SORENESS

8809
05:43:08,640 --> 05:43:10,720
LASTED FOR A IF OIDIAS WHEN IT

8810
05:43:10,720 --> 05:43:12,080
FINALLY WORE OFF I WENT RUNNING

8811
05:43:12,080 --> 05:43:13,400
AGAIN AND AGAIN HAD THE SAME

8812
05:43:13,400 --> 05:43:17,440
RESULT OF SORENESS.  IN 2006

8813
05:43:17,440 --> 05:43:18,520
BROUGHT CONTINUED SORENESS IN

8814
05:43:18,520 --> 05:43:20,320
BEGINNING STAGES OF MUSCLE

8815
05:43:20,320 --> 05:43:22,720
WEAKNESS IN MY LEGS. I BEGAN

8816
05:43:22,720 --> 05:43:24,720
FALLING WHEN I TRIED TO SPRINT

8817
05:43:24,720 --> 05:43:26,400
AND I EVENTUALLY BECAME UNABLE

8818
05:43:26,400 --> 05:43:29,400
TO STAND UP OUT OF A SQUATTED

8819
05:43:29,400 --> 05:43:31,280
POSITION WITHOUT ASSISTANCE. SO

8820
05:43:31,280 --> 05:43:32,320
IN 2007 I SAW MY GENERAL

8821
05:43:32,320 --> 05:43:35,520
PHYSICIAN FOR THE FIRST TIME,

8822
05:43:35,520 --> 05:43:36,640
HALLIAN BASIC BLOOD TEST AND

8823
05:43:36,640 --> 05:43:38,840
CALLED ME BACK FEW DAYS LATER TO

8824
05:43:38,840 --> 05:43:40,720
REFER ME TO A LOCAL

8825
05:43:40,720 --> 05:43:42,600
NEUROMUSCULAR SPECIALIST,

8826
05:43:42,600 --> 05:43:45,360
BECAUSE HE WAS ALARMED AT HIGH

8827
05:43:45,360 --> 05:43:47,920
CK REPORT WITHIN THE BLOOD TEST.

8828
05:43:47,920 --> 05:43:49,360
A LITTLE DID I KNOW AT THAT TIME

8829
05:43:49,360 --> 05:43:51,720
THAT I WAS BEGINNING THIS

8830
05:43:51,720 --> 05:43:54,760
ODYSSEY THAT WOULD CHANGE MY

8831
05:43:54,760 --> 05:43:57,120
LIFE. FEBRUARY OF 2007 I WAS

8832
05:43:57,120 --> 05:43:58,560
REFERRED TO THE UNIVERSITY OF

8833
05:43:58,560 --> 05:44:01,800
UTAH FOR CLINICAL VISITS, WITH

8834
05:44:01,800 --> 05:44:03,720
NEUROMUSCULAR SPECIAL ITSELF DR.

8835
05:44:03,720 --> 05:44:06,200
BROMBERG, THOSE CONTINUED

8836
05:44:06,200 --> 05:44:08,200
ANNUALLY THROUGH 2018. I DID

8837
05:44:08,200 --> 05:44:10,200
NUMBER OF TARGETED GENETIC

8838
05:44:10,200 --> 05:44:12,200
TESTS, THAT FIRST OF FOUR EMG

8839
05:44:12,200 --> 05:44:16,120
TEST, A MUSCLE BIOPSY AND

8840
05:44:16,120 --> 05:44:19,520
FINALLY LATER IN 2007 DR.

8841
05:44:19,520 --> 05:44:21,520
BROMBERG BEGAN CALLING MY

8842
05:44:21,520 --> 05:44:23,920
CONDITION SMA 4 OR ADULT ONSET

8843
05:44:23,920 --> 05:44:25,920
SPINAL MUSCULAR ATROPHY. THIS

8844
05:44:25,920 --> 05:44:27,600
DESPITE NORMAL TEST RESULTS FOR

8845
05:44:27,600 --> 05:44:31,280
MUTATIONS IN THE SMN 1 AND SMN 2

8846
05:44:31,280 --> 05:44:33,800
GENES. THUS BEGAN A PATTERN OF

8847
05:44:33,800 --> 05:44:35,800
LATE NIGHT GOOGLE SEARCHES WITH

8848
05:44:35,800 --> 05:44:38,240
HIS BLESSING I REQUESTED TO SEE

8849
05:44:38,240 --> 05:44:39,240
OTHER SPECIALISTS AT THE

8850
05:44:39,240 --> 05:44:40,960
UNIVERSITY OF UTAH AND OTHER

8851
05:44:40,960 --> 05:44:43,280
TIME MET WITH DR. FLANAGAN AND

8852
05:44:43,280 --> 05:44:46,120
DR. ZABOTA B WE DID ADDITIONAL

8853
05:44:46,120 --> 05:44:48,280
BLOOD TESTS EMG TESTS, THE

8854
05:44:48,280 --> 05:44:49,360
CONCLUSION OF WHICH THEY WERE

8855
05:44:49,360 --> 05:44:51,520
UNAWARE OF ANY OTHER POSSIBLE

8856
05:44:51,520 --> 05:44:52,920
DISEASE TESTS OR PROGRAMS THAT

8857
05:44:52,920 --> 05:44:55,600
COULD HELP MY CASE. SO AS YOU

8858
05:44:55,600 --> 05:44:59,040
CAN IMAGINE BACK TO GOOGLE I

8859
05:44:59,040 --> 05:45:02,520
WENT. IN 2011 BEGAN

8860
05:45:02,520 --> 05:45:03,520
CONVERSATIONS WITH DR.

8861
05:45:03,520 --> 05:45:05,280
(INAUDIBLE) CEDARS SINAI IN LOS

8862
05:45:05,280 --> 05:45:07,240
ANGELES ACCOMPANYD BY MY FATHER

8863
05:45:07,240 --> 05:45:09,920
I MET WITH HIM AND DR. LOUIS

8864
05:45:09,920 --> 05:45:12,080
WHERE THEY PERFORMED ANOTHER EMG

8865
05:45:12,080 --> 05:45:13,920
TEST AND LIKE SPECIALISTS AT THE

8866
05:45:13,920 --> 05:45:16,440
UNIVERSITY OF UTAH THEY WERE

8867
05:45:16,440 --> 05:45:19,440
ALSO STUMPED AS TO A POSSIBLE

8868
05:45:19,440 --> 05:45:22,960
DISEASE. THEY ALSO INTRODUCED TO

8869
05:45:22,960 --> 05:45:25,120
ME DESCRIBED NEW WAY OF ADVANCE

8870
05:45:25,120 --> 05:45:26,480
GENETIC TESTING THAT WAS

8871
05:45:26,480 --> 05:45:29,000
SUPERIOR TO THE TARGETED SMN

8872
05:45:29,000 --> 05:45:30,880
GENETIC TESTING THAT I

8873
05:45:30,880 --> 05:45:34,840
PREVIOUSLY DONE. SO AFTER PAYING

8874
05:45:34,840 --> 05:45:36,240
A DISGUSTINGLY LARGE SUM OF

8875
05:45:36,240 --> 05:45:40,920
MONEY AND WAITING UPWARDS OF SIX

8876
05:45:40,920 --> 05:45:43,480
TO EIGHT MONTHS JENNIE X SENT

8877
05:45:43,480 --> 05:45:47,640
BACK MY WHOLE SEQUENCING EXOME.

8878
05:45:47,640 --> 05:45:48,760
SCIENCE PROGRESSED AND MADE IT

8879
05:45:48,760 --> 05:45:51,520
MUCH MORE EFFICIENT. BUT THE

8880
05:45:51,520 --> 05:45:54,480
GENE REPORT SHOWED SOME SLIGHT

8881
05:45:54,480 --> 05:45:56,240
OR POSSIBLE VARIANTS BUT AFTER

8882
05:45:56,240 --> 05:45:57,120
FURTHER RESEARCH NOTHING

8883
05:45:57,120 --> 05:45:58,600
RESULTED IN ANY ADDITIONAL

8884
05:45:58,600 --> 05:46:00,240
INSIGHTS SO BACK TO GOOGLE I

8885
05:46:00,240 --> 05:46:03,320
WENT. THIS TYPE OF PROCESS

8886
05:46:03,320 --> 05:46:05,560
CONTINUED FOR QUITE SOME TIME. 

8887
05:46:05,560 --> 05:46:08,240
OVERALL TESTS AND CLINICAL

8888
05:46:08,240 --> 05:46:10,560
VISITS BROUGHT MISDIAGNOSIS AS

8889
05:46:10,560 --> 05:46:13,600
KSA -- DAY SACKS, SPINAL

8890
05:46:13,600 --> 05:46:16,240
MUSCULAR ATROPHY, LYNN GIRDLE

8891
05:46:16,240 --> 05:46:18,760
MUSCULAR DYSTROPHY, SO FORTH.

8892
05:46:18,760 --> 05:46:20,040
TODAY I CAN STILL WALK WITH

8893
05:46:20,040 --> 05:46:21,720
ABNORMAL GATE THAT LOCKS MY

8894
05:46:21,720 --> 05:46:22,920
KNEES, WITHOUT ASSISTANCE I'M

8895
05:46:22,920 --> 05:46:24,080
UNABLE TO STAND UP FROM A CHAIR

8896
05:46:24,080 --> 05:46:27,080
OR WALK UPSTAIRS. INCLINES OR

8897
05:46:27,080 --> 05:46:29,840
EVEN UNEVEN SURFACES. THOSE DAYS

8898
05:46:29,840 --> 05:46:32,080
OF PLAYING SPORTS AND RUNNING

8899
05:46:32,080 --> 05:46:33,600
AND RACING MOTORCYCLES ARE OVER

8900
05:46:33,600 --> 05:46:39,520
FOR NOW. AND THE DIFFERENCE

8901
05:46:39,520 --> 05:46:40,640
TODAY EVEN THOUGH DURING THE

8902
05:46:40,640 --> 05:46:41,800
STATUS REMAINS THE SAME AS IT

8903
05:46:41,800 --> 05:46:47,640
DID WHEN I STARTED THIS IN 2006,

8904
05:46:47,640 --> 05:46:48,680
IS THE FEELING OF PRESSURE TO

8905
05:46:48,680 --> 05:46:53,200
CONTINUES TO LOOK FOR NEW TESTS

8906
05:46:53,200 --> 05:46:54,920
NEW SPECIALISTS OR DISCOVERIES

8907
05:46:54,920 --> 05:46:58,680
THAT I FELT PRIOR TO ADMITTED TO

8908
05:46:58,680 --> 05:46:59,360
UNDIAGNOSED DISEASE NETWORK IS

8909
05:46:59,360 --> 05:47:03,560
GONE. I AM CONFIDENT IN THE UDN

8910
05:47:03,560 --> 05:47:07,560
AND THE TEAM THAT THE NIH FORMED

8911
05:47:07,560 --> 05:47:11,560
WITHIN UDN TO SUPPORT PEOPLE

8912
05:47:11,560 --> 05:47:12,560
LIKE NEE THIS UNDIAGNOSED

8913
05:47:12,560 --> 05:47:14,200
DISEASE JOURNEY AND AM CONFIDENT

8914
05:47:14,200 --> 05:47:15,840
THAT A DIAGNOSIS WILL COME

8915
05:47:15,840 --> 05:47:30,920
THANKS TO THE HELP OF THE UDM. 

8916
05:47:30,920 --> 05:47:32,720
>> PI I'M ERIKA COX, AVA'S MOM.

8917
05:47:32,720 --> 05:47:36,360
AVA IS A UDN PARTICIPANT AND

8918
05:47:36,360 --> 05:47:39,720
HEROINESSIC JOURNEY ENDED MARCH

8919
05:47:39,720 --> 05:47:43,080
26, 2019. AVA WAS DIAGNOSED WITH

8920
05:47:43,080 --> 05:47:44,720
CDCK ASSOCIATE CONDITION A NEW

8921
05:47:44,720 --> 05:47:47,520
GENETIC DISORDER THAT WAS

8922
05:47:47,520 --> 05:47:51,160
DISCOVERED IN 2016. TVCK IS A

8923
05:47:51,160 --> 05:47:54,520
RARE NEUROGENETIC DISORDER, THE

8924
05:47:54,520 --> 05:47:56,560
DISEASE IS AUTOSOMAL RECESSIVE,

8925
05:47:56,560 --> 05:47:59,600
MEANING BOTH PARENTS HAVE TO

8926
05:47:59,600 --> 05:48:01,960
CARRY THE SAME PATIENT FOR TDCK.

8927
05:48:01,960 --> 05:48:03,240
THERE ARE VARIANTS WITHIN THE

8928
05:48:03,240 --> 05:48:04,800
DISEASE THAT CAUSE A SPECTRUM OF

8929
05:48:04,800 --> 05:48:08,400
SYMPTOMS AND CONDITIONS. LIKE

8930
05:48:08,400 --> 05:48:11,520
MANY DISEASES THERE IS A RANGE

8931
05:48:11,520 --> 05:48:13,960
OF THE CONDITION AND SEVERITY OF

8932
05:48:13,960 --> 05:48:17,000
IMPACT OF TDCK. IN GENERAL THE

8933
05:48:17,000 --> 05:48:19,720
MAJOR CONDITIONS ARE RELATED TO

8934
05:48:19,720 --> 05:48:22,280
HYPERTONEIA, LOW MUSCLE TONE,

8935
05:48:22,280 --> 05:48:23,480
EPILEPSY AND INTELLECTUAL

8936
05:48:23,480 --> 05:48:25,480
DISABILITY. THE NEW DISEASE IS

8937
05:48:25,480 --> 05:48:27,280
ALSO SO NEW THAT MORE RESEARCH

8938
05:48:27,280 --> 05:48:28,920
IS NEEDED TO DEEPEN WITH

8939
05:48:28,920 --> 05:48:31,240
UNDERSTANDING OF THE SYMPTOM.

8940
05:48:31,240 --> 05:48:33,280
BECAUSE EVERY KID DIAGNOSED WITH

8941
05:48:33,280 --> 05:48:36,160
TBCK EXHIBITS DIFFERENT THINGS

8942
05:48:36,160 --> 05:48:38,960
THOUGH PHYSICALLY THEY LOOK

8943
05:48:38,960 --> 05:48:39,960
SIMILAR, THEY HAVE DIFFERENT

8944
05:48:39,960 --> 05:48:52,280
SKILL SETS, SO THERE IS A

8945
05:48:52,280 --> 05:48:55,880
FOUNDATION ONGOING RESEARCH

8946
05:48:55,880 --> 05:48:56,520
CHILDREN'S HOSPITAL PHILADELPHIA

8947
05:48:56,520 --> 05:48:58,640
AND SHE HAS OVER 100 FRIENDS

8948
05:48:58,640 --> 05:49:00,040
AROUND THE WORLD WITH HER SAME

8949
05:49:00,040 --> 05:49:05,760
DIAGNOSIS.  HER YOUR METASTASIS

8950
05:49:05,760 --> 05:49:08,520
TO DIAGNOSIS BEGAN IN 2014. SHE

8951
05:49:08,520 --> 05:49:10,120
KEPT HER HEAD AND NECK TURNED TO

8952
05:49:10,120 --> 05:49:12,200
ONE SIDE LATER CALLED OR I

8953
05:49:12,200 --> 05:49:27,920
LEARNED LATER CALLED (INAUDIBLE)

8954
05:49:27,920 --> 05:49:31,320
HER SUTURE IN BRAIN WAS OPEN

8955
05:49:31,320 --> 05:49:32,760
WHEN FUSED CLOSED WHEN SHOULD

8956
05:49:32,760 --> 05:49:38,400
HAVE STILL BEEN OPEN.

8957
05:49:38,400 --> 05:49:40,400
(INDISCERNIBLE) HER HEAD WAS

8958
05:49:40,400 --> 05:49:42,080
MISSHAPEN AND BECAUSE THE SUTURE

8959
05:49:42,080 --> 05:49:44,520
WAS CLOSED WILL CAUSE HER HEAD

8960
05:49:44,520 --> 05:49:47,160
TO BE DIAGONAL IF SHE DIDN'T

8961
05:49:47,160 --> 05:49:49,160
HAVE SURGERY TO OPEN THE SUTURE

8962
05:49:49,160 --> 05:49:51,320
AN WEAR A MEDICAL HELMET TO

8963
05:49:51,320 --> 05:49:53,560
RESHAPE HER HEAD.  I WAS TOLD IT

8964
05:49:53,560 --> 05:49:56,480
WAS NOT UNCOMMON BECAUSE SHE WAS

8965
05:49:56,480 --> 05:49:58,240
BREECH. SHE WASN'T REACHING

8966
05:49:58,240 --> 05:49:59,160
MILESTONES DESPITE PHYSICAL

8967
05:49:59,160 --> 05:50:00,520
THERAPY. THAT WAS THE BEING OF O

8968
05:50:00,520 --> 05:50:01,760
MULTIPLE DOCTOR VISITS AROUND

8969
05:50:01,760 --> 05:50:03,320
THE COUNTRY, TRYING TO FIND OUT

8970
05:50:03,320 --> 05:50:08,600
WHAT WAS WRONG WITH ASIA ASIA.

8971
05:50:08,600 --> 05:50:10,720
IT DIDN'T PROVIDE ANSWER BECAUSE

8972
05:50:10,720 --> 05:50:15,120
BECAUSE TBCK WASN'T DISCOVERED

8973
05:50:15,120 --> 05:50:32,640
UNTIL 2016. THOSE FALSE

8974
05:50:32,640 --> 05:50:34,800
STATEMENTS GAVE US FALSE HOPE

8975
05:50:34,800 --> 05:50:37,320
ABOUT AVA'S FUTURE AND HER

8976
05:50:37,320 --> 05:50:38,080
REACHING MILESTONES WERE WAITING

8977
05:50:38,080 --> 05:50:41,840
FOR. AFTER COUNTLESS

8978
05:50:41,840 --> 05:50:44,840
APPOINTMENTS AND A FEW SNAKE OIL

8979
05:50:44,840 --> 05:50:47,160
SALESMEN PRAYING ON OUR

8980
05:50:47,160 --> 05:50:48,480
VULNERABILITY FOR AN ANSWER I

8981
05:50:48,480 --> 05:50:51,520
WAS LED TO UDM BY POSTS ON

8982
05:50:51,520 --> 05:50:53,560
FACEBOOK GROUPS I'M PART OF

8983
05:50:53,560 --> 05:50:55,520
BECAUSE THEY HAD SIMILAR SIMILAR

8984
05:50:55,520 --> 05:50:58,000
SYMPTOMS TO AVA. HER DIAGNOSIS

8985
05:50:58,000 --> 05:50:59,840
IS EVEN MORE RARE LIKE I SAID

8986
05:50:59,840 --> 05:51:01,040
BECAUSE TWO PARENTS HAD TO BE

8987
05:51:01,040 --> 05:51:04,600
CARRIERS TO HAVE THE TBCK CHILD

8988
05:51:04,600 --> 05:51:06,040
AND THAT IS NOT OUR CASE WHICH

8989
05:51:06,040 --> 05:51:08,960
MAKES HER MEDICAL TERM DE NOVO.

8990
05:51:08,960 --> 05:51:11,960
AND OUR ULTRA RARE TDCK WARE

8991
05:51:11,960 --> 05:51:14,000
YOUR. SHE HAS A HUGE SMILE AND

8992
05:51:14,000 --> 05:51:16,120
CONTAGIOUS LAUGH. CURRENTLY SHE

8993
05:51:16,120 --> 05:51:18,200
WALKS WITH ASSISTANCE, AND SHE

8994
05:51:18,200 --> 05:51:19,880
WALKS ON THE TREADMILL, HER

8995
05:51:19,880 --> 05:51:21,880
LONGEST TIME TO DATE IS 11

8996
05:51:21,880 --> 05:51:22,920
MINUTES WHICH IS A HUGE

8997
05:51:22,920 --> 05:51:28,720
ACCOMPLISHMENT.  AVA IS

8998
05:51:28,720 --> 05:51:31,040
NON-VERBAL BUT SUPER LOUD.  THE

8999
05:51:31,040 --> 05:51:32,520
LOUDEST NON-VERBAL CHILD EVER.

9000
05:51:32,520 --> 05:51:34,320
SHE IS IN SPEECH THERAPY AND WE

9001
05:51:34,320 --> 05:51:35,440
ARE CONFIDENT WITH THE MEDICAL

9002
05:51:35,440 --> 05:51:37,920
ADVANCEN'T AND RESEARCH SHE WILL

9003
05:51:37,920 --> 05:51:39,320
WALK AND TALK ONE DAY IN THE

9004
05:51:39,320 --> 05:51:49,760
NEAR FUTURE.  

9005
05:51:49,760 --> 05:51:51,760
>> HEY EVERYONE MY NAME IS

9006
05:51:51,760 --> 05:51:53,360
MONIQUE AND MY NAME IS VIVIAN.

9007
05:51:53,360 --> 05:51:58,120
>> WE ARE DIAGNOSED WITH

9008
05:51:58,120 --> 05:51:58,560
(INAUDIBLE) CLOSE.

9009
05:51:58,560 --> 05:52:02,800
>> CTLA 4 HAPPEN PLEA

9010
05:52:02,800 --> 05:52:03,720
INSUFFICIENCY, AND WE WERE

9011
05:52:03,720 --> 05:52:06,160
DIAGNOSED IN 2014 AND THAT IS

9012
05:52:06,160 --> 05:52:07,920
IMPORTANT BECAUSE THAT IS THE

9013
05:52:07,920 --> 05:52:11,360
FIRST YEAR THAT ANY DOCTORS

9014
05:52:11,360 --> 05:52:12,520
DESCRIBED, IT WAS DR. SEVERAL AN

9015
05:52:12,520 --> 05:52:13,720
COLLEAGUES AT THAT TIME NIH AND

9016
05:52:13,720 --> 05:52:15,080
I THINK IT IS SUPER IMPORTANT WE

9017
05:52:15,080 --> 05:52:18,720
WERE DIAGNOSED THAT YEAR BECAUSE

9018
05:52:18,720 --> 05:52:22,280
AS I BROUGHT A TON OF HOPE TO MY

9019
05:52:22,280 --> 05:52:23,160
TAUGHT EAR DAUGHTER'S JOURNEY.

9020
05:52:23,160 --> 05:52:25,200
BASICALLY EVERYONE HAS A CTLA 4

9021
05:52:25,200 --> 05:52:27,560
GENE AND IT MAKES THE CTLA 4

9022
05:52:27,560 --> 05:52:29,720
PROTEIN. THIS PROSTEEN IS SUPER

9023
05:52:29,720 --> 05:52:31,840
IMPORTANT IN IN IN YOUR IMMUNE

9024
05:52:31,840 --> 05:52:34,160
SYSTEM BECAUSE IT'S THE BRAKES

9025
05:52:34,160 --> 05:52:34,840
TO YOUR.

9026
05:52:34,840 --> 05:52:35,600
IMMUNOSYSTEM, AND WE DON'T MAKE

9027
05:52:35,600 --> 05:52:36,920
THAT PROTEIN SO OUR IMMUNE

9028
05:52:36,920 --> 05:52:39,000
SYSTEM IS IN OVERDRIVE ALL THE

9029
05:52:39,000 --> 05:52:40,080
TIME AND I KNOW THAT SOUNDS LIKE

9030
05:52:40,080 --> 05:52:42,120
A GOOD THING LIKE OH MAN YOU

9031
05:52:42,120 --> 05:52:44,400
MUST NEVER GET SICK BECAUSE YOUR

9032
05:52:44,400 --> 05:52:45,840
IMMUNE SYSTEM IS PUTTING IN WORK

9033
05:52:45,840 --> 05:52:48,840
BUT HONESTLY THAT'S FAR FROM THE

9034
05:52:48,840 --> 05:52:49,720
TRUTH. SORRY.

9035
05:52:49,720 --> 05:52:51,800
>> THIS ACTUALLY CAUSES BIG

9036
05:52:51,800 --> 05:52:55,240
ISSUES AND SPECIFICALLY

9037
05:52:55,240 --> 05:52:58,000
AUTOIMMUNE ISSUES. I DID ASK DR.

9038
05:52:58,000 --> 05:53:00,560
(INAUDIBLE) LAST TIME ABOUT TWO

9039
05:53:00,560 --> 05:53:01,720
WEEKS AGO HOW MANY WORLDWIDE

9040
05:53:01,720 --> 05:53:03,600
HAVE THIS DISEASE, HOW RARE IS

9041
05:53:03,600 --> 05:53:05,600
IT AND SHE TOLD ME ME THAT ONLY

9042
05:53:05,600 --> 05:53:07,680
ABOUT 500 PEOPLE ARE DIAGNOSED

9043
05:53:07,680 --> 05:53:09,120
GLOBALLY WITH THIS DISEASE SO I

9044
05:53:09,120 --> 05:53:10,760
WAS REALLY SHOCKED TO HEAR THAT

9045
05:53:10,760 --> 05:53:13,000
HOW RARE WE WERE, I DO NOT

9046
05:53:13,000 --> 05:53:13,920
BELIEVE WE WERE THAT RARE

9047
05:53:13,920 --> 05:53:15,720
BECAUSE IT IS A GENETIC THING.

9048
05:53:15,720 --> 05:53:16,960
SO SINCE IT IS A GENETIC THING

9049
05:53:16,960 --> 05:53:19,720
THAT MEANS THAT IT CAN BE PASSED

9050
05:53:19,720 --> 05:53:21,640
FROM GENERATION TO GENERATION

9051
05:53:21,640 --> 05:53:23,880
AND BECAUSE OF THAT, OUR

9052
05:53:23,880 --> 05:53:25,480
DIAGNOSIS ODYSSEY INVOLVES A LOT

9053
05:53:25,480 --> 05:53:28,360
OF OUR FAMILY. AND OUR EXTENDED

9054
05:53:28,360 --> 05:53:30,320
FAMILY I DID ATTEND A LOT OF

9055
05:53:30,320 --> 05:53:32,000
FUNERALS GROWING UP FOR OUR

9056
05:53:32,000 --> 05:53:33,560
FAMILY MEMBERS AND LOOKING BACK

9057
05:53:33,560 --> 05:53:35,160
ON THAT NOW THROUGH THE LENS

9058
05:53:35,160 --> 05:53:36,720
THAT WE HAVE NOW KNOWING WHAT WE

9059
05:53:36,720 --> 05:53:38,760
KNOW NOW, WE REALIZE THAT A LOT

9060
05:53:38,760 --> 05:53:42,200
OF THOSE DEATHS COULD HAVE BEEN

9061
05:53:42,200 --> 05:53:44,000
CTLA 4 RELATED. TO MY IMMEDIATE

9062
05:53:44,000 --> 05:53:46,920
FAMILY MY MOM, MY BROTHER AND ME

9063
05:53:46,920 --> 05:53:50,520
WERE ALL POSITIVE FOR THE CTLA 4

9064
05:53:50,520 --> 05:53:52,240
DEFICIENCY BUT HONESTLY

9065
05:53:52,240 --> 05:53:54,040
THROUGHOUT OUR ODYSSEY OUR

9066
05:53:54,040 --> 05:53:56,560
DIAGNOSIS ODYSSEY WE DIDN'T

9067
05:53:56,560 --> 05:53:57,800
REALIZE THAT THERE WAS AN

9068
05:53:57,800 --> 05:53:58,840
UNDERLYING ISSUE THAT WAS WRONG

9069
05:53:58,840 --> 05:54:01,520
WITH US.  WE DIDN'T REALIZE THAT

9070
05:54:01,520 --> 05:54:03,360
WE WERE MEDICALLY WEIRD OR THAT

9071
05:54:03,360 --> 05:54:05,400
WE WERE UNDIAGNOSABLE OR THAT WE

9072
05:54:05,400 --> 05:54:07,520
WERE RARE AT ALL. AND THERE ARE

9073
05:54:07,520 --> 05:54:10,040
TWO REASONS FOR THIS, NUMBER ONE

9074
05:54:10,040 --> 05:54:11,720
IS BECAUSE THIS DISEASE PLAYS

9075
05:54:11,720 --> 05:54:13,720
DIRTY, BECAUSE IT MAKES YOU FEEL

9076
05:54:13,720 --> 05:54:16,200
LIKE YOU ARE BEING DIAGNOSED. WE

9077
05:54:16,200 --> 05:54:17,480
WOULD GET SICK, WE WOULD GO TO

9078
05:54:17,480 --> 05:54:19,560
THE DOCTOR, WE WOULD BE

9079
05:54:19,560 --> 05:54:20,920
DIAGNOSED WITH AUTOIMMUNE

9080
05:54:20,920 --> 05:54:22,040
DISEASE AND THEN WE WOULD

9081
05:54:22,040 --> 05:54:27,120
RECEIVE TREATMENT FOR THEM. THE

9082
05:54:27,120 --> 05:54:29,120
OTHER REASON THAT WE DON'T

9083
05:54:29,120 --> 05:54:30,720
REALLY -- WE DIDN'T REALIZE WE

9084
05:54:30,720 --> 05:54:32,320
WERE SICK IS BECAUSE EACH ONE OF

9085
05:54:32,320 --> 05:54:34,560
US HAD OUR OWN LITTLE UNIQUE

9086
05:54:34,560 --> 05:54:36,960
AUTOIMMUNE ISSUES OUR OWN UNIQUE

9087
05:54:36,960 --> 05:54:38,520
MIX OF AUTOIMMUNE ISSUES WE WERE

9088
05:54:38,520 --> 05:54:39,920
DEALING WITH. NONE HAD THE SAME

9089
05:54:39,920 --> 05:54:41,840
ISSUE US HAPPENING AT THE SAME

9090
05:54:41,840 --> 05:54:45,760
TIME AND SO WE THOUGHT THAT WE

9091
05:54:45,760 --> 05:54:47,640
ARE UNLUCKY WE HAVE AUTOIMMUNE

9092
05:54:47,640 --> 05:54:48,840
ISSUES BUT IT JUST RUNS IN THE

9093
05:54:48,840 --> 05:54:52,600
FAMILY. THERE'S NOTHING CAUSING

9094
05:54:52,600 --> 05:54:54,040
IT, IT IS JUST IT RUNS IN THE

9095
05:54:54,040 --> 05:54:56,480
FAMILY. NOW, DON'T GET ME WRONG,

9096
05:54:56,480 --> 05:54:58,120
WE DID HAVE A HARD TIME, WE WERE

9097
05:54:58,120 --> 05:55:00,280
IN AND OUT OF HOSPITALS, AND IN

9098
05:55:00,280 --> 05:55:02,320
AND OUT OF ERs, THERE WERE

9099
05:55:02,320 --> 05:55:03,840
SOME AUTOIMMUNE ISSUES THAT ARE

9100
05:55:03,840 --> 05:55:05,840
A LOT RARER THAN OTHERS AND WE

9101
05:55:05,840 --> 05:55:09,720
-- IT TOOK A LONG TIME FOR US TO

9102
05:55:09,720 --> 05:55:11,320
BE DIAGNOSED OR GET DIAGNOSIS

9103
05:55:11,320 --> 05:55:12,720
FOR SOME ISSUE BUT THROUGHOUT

9104
05:55:12,720 --> 05:55:14,520
THE ODYSSEY WE WEREN'T BEING

9105
05:55:14,520 --> 05:55:16,120
DIAGNOSED AND WE WERE RECEIVING

9106
05:55:16,120 --> 05:55:17,920
TREATMENT. SO WE DID NOT THINK

9107
05:55:17,920 --> 05:55:19,680
THAT WE NEEDED TO BE LOOKING FOR

9108
05:55:19,680 --> 05:55:22,320
ANYTHING MORE. SO JUST TO GIVE

9109
05:55:22,320 --> 05:55:26,920
YOU AN IDEA OF HOW UNLINKED WE

9110
05:55:26,920 --> 05:55:28,600
WERE, HOW UNLINKED ALL OF OUR

9111
05:55:28,600 --> 05:55:31,160
DISEASES WERE, MY MOM AND MY

9112
05:55:31,160 --> 05:55:32,600
BROTHER HAVE THREE DISEASES,

9113
05:55:32,600 --> 05:55:34,520
THREE AUTOIMMUNE ISSUES THAT ARE

9114
05:55:34,520 --> 05:55:35,720
THE SAME AND THE REST ARE

9115
05:55:35,720 --> 05:55:37,720
DIFFERENT. MY MOM THAT HAS 15

9116
05:55:37,720 --> 05:55:39,640
AUTOIMMUNE ISSUES MY BROTHER HAS

9117
05:55:39,640 --> 05:55:41,920
14 AUTOIMMUNE ISSUES. BUT ONLY

9118
05:55:41,920 --> 05:55:46,800
THREE OF THEM OVERLAPPED. I

9119
05:55:46,800 --> 05:55:49,280
PERSONALLY CONSIDERED

9120
05:55:49,280 --> 05:55:53,120
ASYMPTOMATIC TO HAVE CTLA 4

9121
05:55:53,120 --> 05:55:55,600
DEFICIENCY, I ONLY HAVE

9122
05:55:55,600 --> 05:56:00,840
HYPOTHIGH THYROIDISM, I HAVE

9123
05:56:00,840 --> 05:56:02,080
PSORIASIS AND ECZEMA.

9124
05:56:02,080 --> 05:56:04,440
>> I HAVE HYPOTHYROIDISM AND

9125
05:56:04,440 --> 05:56:05,360
TUBE 1 DIABETES. SO

9126
05:56:05,360 --> 05:56:08,480
>> SO SHE HAS TWO AUTOIMMUNE

9127
05:56:08,480 --> 05:56:09,000
DISEASES.

9128
05:56:09,000 --> 05:56:11,520
>> THANK GOODNESS. THAT IS

9129
05:56:11,520 --> 05:56:13,680
BECAUSE OF MY BROTHER BROTHER

9130
05:56:13,680 --> 05:56:14,320
AND NOER THIS THEIR GENERATION

9131
05:56:14,320 --> 05:56:16,200
FINDING A DIAGNOSIS. SO AFTER

9132
05:56:16,200 --> 05:56:18,240
YEARS OF SICKNESS FOR MY BROTHER

9133
05:56:18,240 --> 05:56:21,920
AND MOTHER AND THEN GETTING ALL

9134
05:56:21,920 --> 05:56:24,800
OF THESE AUTOIMMUNE DIAGNOSIS,

9135
05:56:24,800 --> 05:56:26,520
MY BROTHER FINALLY DEVELOPED ONE

9136
05:56:26,520 --> 05:56:28,480
THING THAT THEY HAD NO IDEA WHAT

9137
05:56:28,480 --> 05:56:31,240
IT WAS. AND IT'S THE THING THAT

9138
05:56:31,240 --> 05:56:32,760
FINALLY LED TO US TO FIGURE OUT

9139
05:56:32,760 --> 05:56:34,760
WHY WE HAD SO MANY AUTOIMMUNE

9140
05:56:34,760 --> 05:56:37,240
ISSUES. HE DEVELOPED LESIONS ALL

9141
05:56:37,240 --> 05:56:39,720
IN HIS BRAIN AND ALL DOWN HIS

9142
05:56:39,720 --> 05:56:41,600
SPINAL CORD AND DOCTORS HAD

9143
05:56:41,600 --> 05:56:44,040
ABSOLUTELY NO ANSWERS FOR US.

9144
05:56:44,040 --> 05:56:47,000
THEY SENT HIM TO MD ANDERSON, HE

9145
05:56:47,000 --> 05:56:48,720
RECEIVED CHEMO THERE AND HE

9146
05:56:48,720 --> 05:56:49,800
RECEIVED SEVERAL TREATMENTS AT

9147
05:56:49,800 --> 05:56:55,200
THE VA HOSPITAL IN HOUSTON BUT

9148
05:56:55,200 --> 05:56:57,320
THEY HAD NO ANSWERS AND WE HAVE

9149
05:56:57,320 --> 05:56:58,960
BEEN LOOKING FOR ABOUT A YEAR AT

9150
05:56:58,960 --> 05:57:00,640
THIS POINT AND HE WAS DECLINING

9151
05:57:00,640 --> 05:57:03,080
RAPIDLY, HE WAS AT THE VA, HE

9152
05:57:03,080 --> 05:57:06,120
WAS INPATIENT, THEY HAD HIM ON

9153
05:57:06,120 --> 05:57:08,200
COMFORT MEDS ESSENTIALLY WAITING

9154
05:57:08,200 --> 05:57:10,200
FOR HIM TO PASS AWAY AND THEY

9155
05:57:10,200 --> 05:57:12,120
DECIDED TO DO A BIOPSY OF ONE OF

9156
05:57:12,120 --> 05:57:13,520
THE LESIONS IN HIS BRAIN. SO

9157
05:57:13,520 --> 05:57:16,360
THEY DID THE BIOPSY, THEY PUT

9158
05:57:16,360 --> 05:57:18,600
HIM ON SLIDES AND SENT HIM OUT

9159
05:57:18,600 --> 05:57:19,760
ACROSS AMERICA TO THESE

9160
05:57:19,760 --> 05:57:21,800
DIFFERENT RESEARCH HOSPITALS TO

9161
05:57:21,800 --> 05:57:24,800
TRY TO GET ANSWERS BECAUSE WE

9162
05:57:24,800 --> 05:57:27,440
WERE DESPERATE. WE HAD HOPE THAT

9163
05:57:27,440 --> 05:57:28,720
SOMEBODY SOMEWHERE WOULD

9164
05:57:28,720 --> 05:57:30,360
RECOGNIZE WHAT THIS IS BUT

9165
05:57:30,360 --> 05:57:31,960
UNFORTUNATELY WHEN THE ANSWERS

9166
05:57:31,960 --> 05:57:33,720
CAME BACK, NOBODY KNEW WHAT IT

9167
05:57:33,720 --> 05:57:41,240
WAS AT ALL. WE WERE LEFT WITH NO

9168
05:57:41,240 --> 05:57:43,920
ANSWERS. A RANDOM LAB TECH SAID

9169
05:57:43,920 --> 05:57:45,920
WE DIDN'T TRY NIH LET'S SEND

9170
05:57:45,920 --> 05:57:47,600
WILL. SO THEY SENT THE SAMPLES

9171
05:57:47,600 --> 05:57:50,760
TO NIH AND SOMEHOW GOT TO THEIR

9172
05:57:50,760 --> 05:57:51,840
IMMUNOLOGY DEPARTMENT AND THEY

9173
05:57:51,840 --> 05:57:53,280
WERE LIKE YOU KNOW WE THINK WE

9174
05:57:53,280 --> 05:57:54,720
HAVE AN ANSWER FOR YOU, LET'S

9175
05:57:54,720 --> 05:57:56,240
RUN BLOOD TESTS AND THEY RAN THE

9176
05:57:56,240 --> 05:58:01,200
BLOOD TESTS, HE WAS POSITIVE FOR

9177
05:58:01,200 --> 05:58:04,400
CTLA 4 DEFICIENCY. HE WAS IN

9178
05:58:04,400 --> 05:58:05,680
REALLY BAD SHAPE AT THAT POINT

9179
05:58:05,680 --> 05:58:07,760
BUT SOMEHOW MY PARENTS WERE ABLE

9180
05:58:07,760 --> 05:58:10,520
TO GET MY BROTHER OUT OF THE

9181
05:58:10,520 --> 05:58:12,520
HOSPITAL AND FLY HIM FROM TEXAS

9182
05:58:12,520 --> 05:58:15,680
TO BETHESDA AND HE STARTED THE

9183
05:58:15,680 --> 05:58:18,160
LONG ROAD TO RECOVERY. IT IT WAS

9184
05:58:18,160 --> 05:58:21,320
A VERY LONG TIME BEFORE HE WAS

9185
05:58:21,320 --> 05:58:23,000
OKAY BUT THEY SAVED HIS LIFE

9186
05:58:23,000 --> 05:58:24,120
WITH THE TREATMENT THEY GAVE

9187
05:58:24,120 --> 05:58:26,120
HIM. SO CHARLIE AND MY MOM WHO

9188
05:58:26,120 --> 05:58:27,680
ARE THE SICKEST OUT OF OUR

9189
05:58:27,680 --> 05:58:29,480
FAMILY, OUR IMMEDIATE FAMILY,

9190
05:58:29,480 --> 05:58:31,680
GOT US TO OUR DIAGNOSIS. AND

9191
05:58:31,680 --> 05:58:33,600
THAT OPENED UP A WHOLE NEW WORLD

9192
05:58:33,600 --> 05:58:35,720
FOR OUR FAMILY. AND THAT'S WHEN

9193
05:58:35,720 --> 05:58:37,960
MY DAUGHTER'S STORY STARTS. 

9194
05:58:37,960 --> 05:58:40,440
HERS STARTS AFTER DIAGNOSIS IN

9195
05:58:40,440 --> 05:58:41,920
2014, HOW OLD WERE YOU WHEN WE

9196
05:58:41,920 --> 05:58:47,520
WERE DIAGNOSED? DO YOU REMEMBER?

9197
05:58:47,520 --> 05:58:48,120
>> 3.

9198
05:58:48,120 --> 05:58:51,240
>> YOU WERE THREE. AND WE

9199
05:58:51,240 --> 05:58:52,680
STARTED -- WE WERE ADDED ON TO

9200
05:58:52,680 --> 05:58:55,120
THE RESEARCH PROTOCOL AT THE NIH

9201
05:58:55,120 --> 05:58:57,880
AND WE WOULD GO YEARLY FOR CHECK

9202
05:58:57,880 --> 05:59:00,000
UPS BECAUSE WE WERE ASYMPTOMATIC

9203
05:59:00,000 --> 05:59:02,120
NOT HAD ANY PROGRESSION IN THE

9204
05:59:02,120 --> 05:59:04,120
DISEASE AND WHAT HAPPENED, BABY?

9205
05:59:04,120 --> 05:59:07,280
>> WHEN I WAS SIX THEY DIAGNOSED

9206
05:59:07,280 --> 05:59:14,520
ME WITH HYPOTHIGH THYROIDISM AND

9207
05:59:14,520 --> 05:59:15,800
WHEN SEVEN THEY DISCOVERED I HAD

9208
05:59:15,800 --> 05:59:16,480
DIABETES.

9209
05:59:16,480 --> 05:59:18,480
>> WHAT TYPE OF DIABETES?

9210
05:59:18,480 --> 05:59:19,680
>> 1.

9211
05:59:19,680 --> 05:59:22,120
>> TYPE 1 DIABETES. SO SHE HAD

9212
05:59:22,120 --> 05:59:25,000
STARTED TO DEVELOP AUTOIMMUNE

9213
05:59:25,000 --> 05:59:27,880
ISSUES AND THEY CAUGHT HER TYPE

9214
05:59:27,880 --> 05:59:30,040
1 DIABETES EARLY ENOUGH THEY

9215
05:59:30,040 --> 05:59:32,960
STARTED TREATMENT IMMEDIATELY TO

9216
05:59:32,960 --> 05:59:34,200
STOP THE PROGRESSION OF THE

9217
05:59:34,200 --> 05:59:35,880
DESTRUCTION OF HER PANCREAS, THE

9218
05:59:35,880 --> 05:59:38,200
BETA CELLS IN

9219
05:59:38,200 --> 05:59:38,720
MS. PANCHAL: CREEIUS.

9220
05:59:38,720 --> 05:59:41,320
>> THEY ARE LIKE YOU BETTER STOP

9221
05:59:41,320 --> 05:59:42,240
PROGRESSING OR ELSE.

9222
05:59:42,240 --> 05:59:44,600
>> THEY WERE. SO WE STARTED IN

9223
05:59:44,600 --> 05:59:46,920
2019,S GOING TO THE NIH EVERY

9224
05:59:46,920 --> 05:59:50,160
TWO WEEKS FOR HER TO RECEIVE

9225
05:59:50,160 --> 05:59:51,520
MEDICATION THAT REPLACE --

9226
05:59:51,520 --> 05:59:54,480
ESSENTIALLY REPLACES HER CTLA 4

9227
05:59:54,480 --> 05:59:56,600
PROTEIN AND AT HOME SHE TAKES

9228
05:59:56,600 --> 05:59:58,080
MEDICATION TO BRING HER IMMUNE

9229
05:59:58,080 --> 06:00:01,480
SYSTEM DOWN SO THAT IT'S NOT IN

9230
06:00:01,480 --> 06:00:03,040
OVERDRIVE. SO DO YOU REMEMBER

9231
06:00:03,040 --> 06:00:04,200
THOSE FIRST FEW WEEKS WHEN WE

9232
06:00:04,200 --> 06:00:06,800
WERE GOING TO THE NIH A LOT? DO

9233
06:00:06,800 --> 06:00:09,360
YOU REMEMBER IT? DO YOU REMEMBER

9234
06:00:09,360 --> 06:00:11,040
GOING TO THE NIH HOW DID YOU

9235
06:00:11,040 --> 06:00:11,920
FEEL FIRST GOING THERE?

9236
06:00:11,920 --> 06:00:12,720
>> SCARED.

9237
06:00:12,720 --> 06:00:13,920
>> WHAT MADE YOU SCARED??

9238
06:00:13,920 --> 06:00:14,960
>> THE SHARP THINGS.

9239
06:00:14,960 --> 06:00:17,280
>> THE SHARP THINGS, YEAH. SO WE

9240
06:00:17,280 --> 06:00:18,680
WERE GOING EVERY TWO WEEKS FOR A

9241
06:00:18,680 --> 06:00:20,920
WHILE AND THEN FOR ABOUT TWO

9242
06:00:20,920 --> 06:00:22,720
YEARS WE DID EVERY FOUR WEEKS

9243
06:00:22,720 --> 06:00:24,160
TRAVELING FROM TEXAS TO

9244
06:00:24,160 --> 06:00:26,280
BETHESDA. AND HERE RECENTLY THEY

9245
06:00:26,280 --> 06:00:29,720
CHANGED US NOW WE ARE GETTING TO

9246
06:00:29,720 --> 06:00:31,280
TRAVEL EVERY SIX WEEKS. SO THE

9247
06:00:31,280 --> 06:00:34,000
TREATMENT IS WORKING FOR HER.

9248
06:00:34,000 --> 06:00:36,320
SHE -- H HER AUTOIMMUNE LEVELS

9249
06:00:36,320 --> 06:00:37,680
ARE TRENDING DOWNWARD. SHE

9250
06:00:37,680 --> 06:00:39,640
HASN'T DEVELOPED ANY MORE

9251
06:00:39,640 --> 06:00:41,880
AUTOIMMUNE DISEASES AND HER TYPE

9252
06:00:41,880 --> 06:00:44,640
1 DIABETES HAS NOT PROGRESSED. 

9253
06:00:44,640 --> 06:00:47,840
SHE STILL HAS ALMOST ALL FULL

9254
06:00:47,840 --> 06:00:49,760
PANCREATIC FUNCTION. SO THAT IS

9255
06:00:49,760 --> 06:00:51,920
WHERE I FEEL LIKE OUR DIAGNOSIS

9256
06:00:51,920 --> 06:00:53,800
ODYSSEY IS DIFFERENT FROM MOST

9257
06:00:53,800 --> 06:00:56,000
PEOPLE, BECAUSE MOST PEOPLE THAT

9258
06:00:56,000 --> 06:00:58,560
ARE UNDIAGNOSED OR HAVE A RARE

9259
06:00:58,560 --> 06:01:01,240
DISEASE THEY STRUGGLE THROUGH

9260
06:01:01,240 --> 06:01:04,480
GETTING THE DIAGNOSIS. AND THEN

9261
06:01:04,480 --> 06:01:06,320
THEY HAVE TO STRUGGLE TO FIND A

9262
06:01:06,320 --> 06:01:08,320
CURE OR A TREATMENT. WITH

9263
06:01:08,320 --> 06:01:10,840
VIVIAN, WITH HER STORY, MY

9264
06:01:10,840 --> 06:01:12,840
PARENTS -- MY BROTHER AND MOTHER

9265
06:01:12,840 --> 06:01:14,200
THEIR GENERATION STRUGGLED TO

9266
06:01:14,200 --> 06:01:17,720
FIND A DIAGNOSIS. BUT VIVIANNE

9267
06:01:17,720 --> 06:01:19,160
GETS TO REAP THE BENEFIT OF

9268
06:01:19,160 --> 06:01:20,400
THEIR STRUGGLE AND SHE DOESN'T

9269
06:01:20,400 --> 06:01:22,320
HAVE TO PUT UP WITH THE DISEASE

9270
06:01:22,320 --> 06:01:23,600
DESTROYING HER BODY BECAUSE SHE

9271
06:01:23,600 --> 06:01:25,000
CAN GO STRAIGHT TO THE

9272
06:01:25,000 --> 06:01:26,080
TREATMENT. SHE DOESN'T HAVE TO

9273
06:01:26,080 --> 06:01:28,560
GO THROUGH THE TROUBLE OF GOING

9274
06:01:28,560 --> 06:01:30,960
THROUGH ALL OF THAT DIAGNOSIS

9275
06:01:30,960 --> 06:01:33,800
LIKE MY BROTHER AND MOTHER DID. 

9276
06:01:33,800 --> 06:01:37,280
I THINK OF IT THIS WAY.

9277
06:01:37,280 --> 06:01:38,560
DIAGNOSIS, DISCOVERY OF THE

9278
06:01:38,560 --> 06:01:40,240
DISEASE WAS THE CEILING FOR MY

9279
06:01:40,240 --> 06:01:41,440
MOM AND BROTHER. THEY WILL

9280
06:01:41,440 --> 06:01:43,840
FOREVER LIVE WITH THE

9281
06:01:43,840 --> 06:01:44,920
DESTRUCTION THAT THIS DISEASE

9282
06:01:44,920 --> 06:01:46,920
HAS DONE TO THEIR BODY. THEY ARE

9283
06:01:46,920 --> 06:01:48,280
STILL LIVING WITH IT.  HE STILL

9284
06:01:48,280 --> 06:01:49,400
HA LESIONS IN HIS BRAIN, THEY

9285
06:01:49,400 --> 06:01:51,720
ARE SMALLER BUT HE STILL HAS

9286
06:01:51,720 --> 06:01:54,320
LEAGUES.  MY MOM YESTERDAY JUST

9287
06:01:54,320 --> 06:01:55,920
HAD 38 POLYPS REMOVED FROM HER

9288
06:01:55,920 --> 06:01:58,160
STOMACH. SHE IS STILL STRUGGLE,

9289
06:01:58,160 --> 06:01:59,840
THEY ARE STILL STRUGGLING BUT

9290
06:01:59,840 --> 06:02:01,920
THEIR CEILING IS MY DAUGHTERS

9291
06:02:01,920 --> 06:02:03,720
FLOOR BECAUSE THEY GOT THEIR

9292
06:02:03,720 --> 06:02:05,200
DIAGNOSIS, SHE IS ABLE TO GET

9293
06:02:05,200 --> 06:02:07,200
THE TREATMENT RIGHT AWAY, AND SO

9294
06:02:07,200 --> 06:02:10,240
HER AND HER FUTURE KIDS REAP THE

9295
06:02:10,240 --> 06:02:12,440
BENEFITS OF THE STRUGGLE OF MY

9296
06:02:12,440 --> 06:02:15,000
MOM AND MY BROTHER WHAT THEY PUT

9297
06:02:15,000 --> 06:02:16,440
IN. IT IS A NEW TRACK FOR MY

9298
06:02:16,440 --> 06:02:18,440
DAUGHTER AND ME IF I EVER START

9299
06:02:18,440 --> 06:02:20,200
PROGRESSING THAT MY MOTHER AND

9300
06:02:20,200 --> 06:02:23,320
BROTHER WON'T EVER GET TO

9301
06:02:23,320 --> 06:02:25,320
EXPERIENCE. THE SEARCH FOR THE

9302
06:02:25,320 --> 06:02:26,720
ANSWER, SEARCH FOR WHY WE HAD SO

9303
06:02:26,720 --> 06:02:29,920
MANY AUTOIMMUNE DISEASES, WAS

9304
06:02:29,920 --> 06:02:31,800
ESSENTIALLY COPING FOR MY MOTHER

9305
06:02:31,800 --> 06:02:33,320
AND BROTHER BUT THE SEARCH FOR A

9306
06:02:33,320 --> 06:02:38,760
CURE FOR MY DAUGHTER, IS THE

9307
06:02:38,760 --> 06:02:39,920
OPPORTUNITY FOR HER TO HAVE A

9308
06:02:39,920 --> 06:02:55,560
NORMAL LIFE. 

9309
06:02:55,560 --> 06:02:58,640
>> HELLO, EVERYONE. MY NAME IS

9310
06:02:58,640 --> 06:03:00,760
TERRENCE AND THIS IT SEEMS TO ME

9311
06:03:00,760 --> 06:03:05,760
DAUGHTER TERRAN.  AND WE ARE

9312
06:03:05,760 --> 06:03:10,200
EXTREMELY EXCITED TO BE ON THIS

9313
06:03:10,200 --> 06:03:13,920
ODYSSEY WITH YOU ALL. TO BEGIN

9314
06:03:13,920 --> 06:03:17,680
WITH, MY DAUGHTER AT AGE 14 SHE

9315
06:03:17,680 --> 06:03:20,920
WAS DIAGNOSED WITH MESOTHELIOMA

9316
06:03:20,920 --> 06:03:22,920
AND I'M GOING TO LET HER SHARE

9317
06:03:22,920 --> 06:03:26,480
HER STORY BUT FIRST MESOTHELIOMA

9318
06:03:26,480 --> 06:03:33,120
IS VERY, VERY RARE IN KIDS. SO

9319
06:03:33,120 --> 06:03:35,560
AT AGE 14 WE SEEN SOME THINGS

9320
06:03:35,560 --> 06:03:37,720
GOING ON WITH HER BODY THAT WE

9321
06:03:37,720 --> 06:03:39,520
DID NOT UNDERSTAND. SO ONE OF

9322
06:03:39,520 --> 06:03:43,520
THE BIGGEST THINGS THAT WE SAW

9323
06:03:43,520 --> 06:03:45,240
WAS HER LEGS SWELLING FROM HER

9324
06:03:45,240 --> 06:03:49,000
KNEES DOWN TO HER FEET.  AND

9325
06:03:49,000 --> 06:03:52,520
THAT WAS VERY CONCERNING TO ME

9326
06:03:52,520 --> 06:03:56,800
AND HER MOM. SO WE WOULD HAVE

9327
06:03:56,800 --> 06:03:59,080
HER GO TO THE DOCTOR, GET THINGS

9328
06:03:59,080 --> 06:04:01,120
CHECKED AND THEY THOUGHT THAT IT

9329
06:04:01,120 --> 06:04:04,480
WAS MOSTLY IN HER KIDNEYS.  THE

9330
06:04:04,480 --> 06:04:05,600
DOCTOR AT THE TIME DIDN'T THINK

9331
06:04:05,600 --> 06:04:13,640
ABOUT ANY TYPE OF CANCER. SO

9332
06:04:13,640 --> 06:04:15,840
BEFORE WE HAD ANOTHER

9333
06:04:15,840 --> 06:04:18,480
APPOINTMENT SET, AND BEFORE SHE

9334
06:04:18,480 --> 06:04:19,960
WAS ABLE TO GO TO THAT

9335
06:04:19,960 --> 06:04:23,680
APPOINTMENT SHE PASSED OUT IN

9336
06:04:23,680 --> 06:04:26,200
SCHOOL. SO AT THAT TIME WE STILL

9337
06:04:26,200 --> 06:04:27,120
DIDN'T KNOW WHAT WAS GOING ON SO

9338
06:04:27,120 --> 06:04:30,640
I GOT TO THE SCHOOL, HER SPEECH

9339
06:04:30,640 --> 06:04:32,920
WAS SLURRED, SHE WAS TRYING TO

9340
06:04:32,920 --> 06:04:35,120
STAY A AWAKE AT THE TIME. AND

9341
06:04:35,120 --> 06:04:37,520
SHE WAS TRYING TO EXPLAIN TO ME

9342
06:04:37,520 --> 06:04:39,520
WHAT HAPPENED, AND SHE DID

9343
06:04:39,520 --> 06:04:43,080
PRETTY GOOD JOB EXPLAINING TO ME

9344
06:04:43,080 --> 06:04:45,880
WHAT WAS GOING ON BUT STILL YET

9345
06:04:45,880 --> 06:04:47,120
THERE WAS A LOT OF CONCERN

9346
06:04:47,120 --> 06:04:49,320
BECAUSE OF THE WAY SHE LOOKED

9347
06:04:49,320 --> 06:04:51,120
LAYING ON THE BED AT THE SCHOOL.

9348
06:04:51,120 --> 06:04:56,000
SO WE GOT HER TO THE HOSPITAL,

9349
06:04:56,000 --> 06:04:59,760
THE DOCTOR AT OUR LOCAL HOSPITAL

9350
06:04:59,760 --> 06:05:02,000
TOLD US THAT SHE HAD BLOOD CLOTS

9351
06:05:02,000 --> 06:05:08,720
IN HER LEGS. AND THE REASON

9352
06:05:08,720 --> 06:05:11,560
BEING THAT HERE AT OUR HOSPITAL

9353
06:05:11,560 --> 06:05:12,920
THEY POUND THE BLOOD CLOTS BUT

9354
06:05:12,920 --> 06:05:17,160
THEY DID NOT SEE THE TUMOR. SO

9355
06:05:17,160 --> 06:05:18,920
LATER ON WHEN WE ENDED UP GOING

9356
06:05:18,920 --> 06:05:22,200
TO -- BECAUSE WE DON'T HAVE A

9357
06:05:22,200 --> 06:05:23,320
CHILDREN'S HOSPITAL HERE, SHE

9358
06:05:23,320 --> 06:05:26,440
HAD TO GO TO COLUMBIA, SOUTH

9359
06:05:26,440 --> 06:05:31,640
CAROLINA, TO CHILDREN'S HOSPITAL

9360
06:05:31,640 --> 06:05:34,080
THERE THEY FOUND TUMOR IN METHOD

9361
06:05:34,080 --> 06:05:36,320
SECTION AND STILL DIDN'T KNOW

9362
06:05:36,320 --> 06:05:40,200
WHAT IT WAS SO WE CAN UNDERSTAND

9363
06:05:40,200 --> 06:05:43,160
JOURNEY OF Y'ALL BEING

9364
06:05:43,160 --> 06:05:48,840
UNDIAGNOSED BECAUSE THE

9365
06:05:48,840 --> 06:05:49,520
CHILDREN'S HOSPITAL SAW

9366
06:05:49,520 --> 06:05:51,400
SOMETHING THEY NEVER HAD DEAL

9367
06:05:51,400 --> 06:05:52,440
WITH BEFORE THOUGH AT HER AGE

9368
06:05:52,440 --> 06:05:55,440
SHE WAS ABLE TO GO TO CHILDREN'S

9369
06:05:55,440 --> 06:06:05,320
HOSPITAL. BUT BUT IT WAS STILL A

9370
06:06:05,320 --> 06:06:08,120
CONCERN. SO WE WENT TO COLUMBIA,

9371
06:06:08,120 --> 06:06:10,600
THEY DID BIOPSY, SEND TO

9372
06:06:10,600 --> 06:06:11,600
MASSACHUSETTS, GOT RESULT BACK

9373
06:06:11,600 --> 06:06:13,920
AND IT URNED OUT TO BE

9374
06:06:13,920 --> 06:06:15,320
MESOTHELIOMA BUT MORE

9375
06:06:15,320 --> 06:06:18,120
SPECIFICALLY IT WAS PAIR TA

9376
06:06:18,120 --> 06:06:22,640
KNEEL IN HER MID SECTION. SO

9377
06:06:22,640 --> 06:06:25,320
WHAT HAPPENED THE BLOOD CLOTS IN

9378
06:06:25,320 --> 06:06:29,320
HER LEGS THEY BROKE OFF AND WENT

9379
06:06:29,320 --> 06:06:31,000
INTO HER LUNGS AND THAT MADE HER

9380
06:06:31,000 --> 06:06:33,720
PASS OUT IN SCHOOL. SO THE TUMOR

9381
06:06:33,720 --> 06:06:35,720
WAS SO BIG THAT IT WAS ACTUALLY

9382
06:06:35,720 --> 06:06:38,400
COMPRESSING HER BLOOD VESSELS IN

9383
06:06:38,400 --> 06:06:41,720
HER MID SECTION SO THAT SHE

9384
06:06:41,720 --> 06:06:46,320
WASN'T GETTING ENOUGH OX GENERAL

9385
06:06:46,320 --> 06:06:48,960
GOING ON SO WHEN BLOOD CLOTS DID

9386
06:06:48,960 --> 06:06:50,960
BREAK OFF ENDED UP TO HER LUNGS

9387
06:06:50,960 --> 06:06:54,960
SO THAT'S WHY SHE PASSED OUT

9388
06:06:54,960 --> 06:06:57,800
MANY SCHOOL BECAUSE OF THE BLOOD

9389
06:06:57,800 --> 06:07:03,480
CLOTS. I'M GOING TOND AND LET

9390
06:07:03,480 --> 06:07:04,920
HER TELL HER SORRY BECAUSE IT IS

9391
06:07:04,920 --> 06:07:09,440
HER STORY BUT I WAS PART OF YOUR

9392
06:07:09,440 --> 06:07:10,640
NCI OF TRYING TO FIND OUT WHAT

9393
06:07:10,640 --> 06:07:14,000
WAS GOING ON WITH HER. SO TAKE

9394
06:07:14,000 --> 06:07:14,920
IT AWAY.

9395
06:07:14,920 --> 06:07:16,360
>> LIKE MY DAD SAID I WAS

9396
06:07:16,360 --> 06:07:19,120
DIAGNOSED WITH MESOTHELIOMA. I

9397
06:07:19,120 --> 06:07:24,160
DIDN'T FIND OUT UNTIL JUNE OF

9398
06:07:24,160 --> 06:07:27,520
2014. AND I STILL REMEMBER THAT

9399
06:07:27,520 --> 06:07:32,320
DAY BECAUSE I WAS GOING TO --

9400
06:07:32,320 --> 06:07:34,120
EARLY IN THE MORNING AND WALKING

9401
06:07:34,120 --> 06:07:36,720
UPSTAIRS AND BEING SO WINDED, IT

9402
06:07:36,720 --> 06:07:40,160
WAS JUST LIKE OUT OF NOWHERE

9403
06:07:40,160 --> 06:07:42,160
REALLY AND -- YEAH, I WAS GOING

9404
06:07:42,160 --> 06:07:43,960
TO LUNCH AND THAT IS WHEN I

9405
06:07:43,960 --> 06:07:46,520
PASSED OUT IN THE GIRL'S

9406
06:07:46,520 --> 06:07:48,760
RESTROOM. AND REALLY WAS JUST

9407
06:07:48,760 --> 06:07:51,320
FROM THAT MOMENT FORWARD, THIS

9408
06:07:51,320 --> 06:07:54,480
WHOLE ODYSSEY OR JOURNEY, IT WAS

9409
06:07:54,480 --> 06:07:56,360
JUST LIKE REALLY JUST KEPT THE

9410
06:07:56,360 --> 06:07:59,000
BALL GOING AND. I'M GRATEFUL

9411
06:07:59,000 --> 06:08:04,040
THAT THE BALL SLOWED DOWN. BUT

9412
06:08:04,040 --> 06:08:07,560
I'M ALSO VERY GLAD THAT EVEN

9413
06:08:07,560 --> 06:08:11,960
THOUGH THE REASON WAS NOT THE

9414
06:08:11,960 --> 06:08:15,040
GREATEST, BUT THE FACT THAT I

9415
06:08:15,040 --> 06:08:18,520
HAVE GOT TO TRAVEL AND MEET ALL

9416
06:08:18,520 --> 06:08:21,120
SORTS OF DIFFERENT PEOPLE AND I

9417
06:08:21,120 --> 06:08:25,920
HAVE GOT TO SPEAK IN SOME SPACES

9418
06:08:25,920 --> 06:08:26,680
THAT I HAVE NEVER THOUGHT I

9419
06:08:26,680 --> 06:08:28,920
WOULD GET A CHANCE TO SPEAK AT,

9420
06:08:28,920 --> 06:08:32,760
I'M VERY GRATEFUL AND I TRY TO

9421
06:08:32,760 --> 06:08:35,920
LOOK AT THE POSITIVE SIDE AND

9422
06:08:35,920 --> 06:08:40,600
EVEN THOUGH NO ONE TELLS ANYBODY

9423
06:08:40,600 --> 06:08:42,400
THIS, BEING DIAGNOSED WITH

9424
06:08:42,400 --> 06:08:47,560
CANCER CAN REALLY -- IT CAN

9425
06:08:47,560 --> 06:08:49,720
REALLY MESS WITH YOUR MENTAL

9426
06:08:49,720 --> 06:08:54,920
STATE JUST A LITTLE BIT.  AND

9427
06:08:54,920 --> 06:09:00,680
I'M GLAD THAT I HAVE OVERCOME

9428
06:09:00,680 --> 06:09:07,040
MAPPING ZITY AND MY DEPRESSION. 

9429
06:09:07,040 --> 06:09:08,400
I'M GRATEFUL FOR THE MEMORIES

9430
06:09:08,400 --> 06:09:10,560
THAT I HAVE WITH PEOPLE THAT ARE

9431
06:09:10,560 --> 06:09:12,800
UNFORTUNATELY HERE WITH US

9432
06:09:12,800 --> 06:09:20,440
TODAY. JUST REALLY GRATE.  . I

9433
06:09:20,440 --> 06:09:22,280
JUST CAN'T WAIT TO SEE WHAT THE

9434
06:09:22,280 --> 06:09:24,040
FUTURE HAS IN STORE FOR ME AND

9435
06:09:24,040 --> 06:09:37,280
FOR ALL OF YOU.  

9436
06:09:37,280 --> 06:09:38,520
>> THIS IS ERIC SID FROM OFFICE

9437
06:09:38,520 --> 06:09:39,840
OF RARE DISEASE RESEARCH AGAIN.

9438
06:09:39,840 --> 06:09:41,960
I WANTED TO FIRST START BY

9439
06:09:41,960 --> 06:09:43,680
SAYING WE WANT TO THANK ALL OF

9440
06:09:43,680 --> 06:09:44,680
OUR DIFFERENT PATIENT SPEAKERS

9441
06:09:44,680 --> 06:09:47,000
FOR THEIR AMAZING STORIES AND

9442
06:09:47,000 --> 06:09:49,120
OPPORTUNITY TO HEAR FROM THEM. 

9443
06:09:49,120 --> 06:09:50,360
ONE OF THE THINGS THAT YOU

9444
06:09:50,360 --> 06:09:51,880
PROBABLY NOTE FROM THE DIFFERENT

9445
06:09:51,880 --> 06:09:54,840
STORIES IS THAT THIS IS REALLY A

9446
06:09:54,840 --> 06:09:56,280
DIAGNOSTIC ODYSSEY. I'M ON THE

9447
06:09:56,280 --> 06:09:58,600
SCREEN YOU ARE ALSO SEEING

9448
06:09:58,600 --> 06:10:01,480
GRAPHICS PULLED FROM THE EVERY

9449
06:10:01,480 --> 06:10:03,720
LIFE FOUNDATION REPORT ON BURDEN

9450
06:10:03,720 --> 06:10:05,200
OF RARE DISEASE. WHAT I WANTED

9451
06:10:05,200 --> 06:10:07,480
TO CALL YOUR ATTENTION TO IS THE

9452
06:10:07,480 --> 06:10:09,280
FACT THAT THIS ENTIRE DIAGNOSTIC

9453
06:10:09,280 --> 06:10:11,520
ODYSSEY PROCESS TAKES MANY,

9454
06:10:11,520 --> 06:10:13,600
MANY, MANY YEARS. AS WELL AS GO

9455
06:10:13,600 --> 06:10:14,320
THROUGH MANY DIFFERENT

9456
06:10:14,320 --> 06:10:15,920
SPECIALISTS. THIS IS NOT

9457
06:10:15,920 --> 06:10:18,560
UNCOMMON IN DIAGNOSIS. WHAT YOU

9458
06:10:18,560 --> 06:10:21,560
SEE ON THE TOP LEFT IS A

9459
06:10:21,560 --> 06:10:22,720
BASICALLY MODEL THAT COMES FROM

9460
06:10:22,720 --> 06:10:25,040
NATIONAL ACADEMIES OF SCIENCE

9461
06:10:25,040 --> 06:10:26,280
ENGINEERING AND MEDICINE THAT

9462
06:10:26,280 --> 06:10:28,360
SHOWS YOU SOME OF THE ISSUES

9463
06:10:28,360 --> 06:10:30,680
AROUND HOW DIAGNOSTIC WORKS IN

9464
06:10:30,680 --> 06:10:33,880
ISSUES AROUND THERE. THERE'S A

9465
06:10:33,880 --> 06:10:35,760
SICK CLICK PROCESS HERE OFTEN

9466
06:10:35,760 --> 06:10:36,920
TIMES WHERE PATIENTS STARTING TO

9467
06:10:36,920 --> 06:10:39,400
GET DIAGNOSTIC GOING THROUGH

9468
06:10:39,400 --> 06:10:41,320
DIAGNOSTIC PROCESS WILL START

9469
06:10:41,320 --> 06:10:43,120
GATHERING INFORMATION WITH THEIR

9470
06:10:43,120 --> 06:10:44,320
PROVIDER AND THEN START

9471
06:10:44,320 --> 06:10:46,280
INTEGRATING DIFFERENCE TYPES OF

9472
06:10:46,280 --> 06:10:48,080
LABS AND OTHER MEASURES THEN

9473
06:10:48,080 --> 06:10:49,720
GOING THROUGH WORKING DIAGNOSES

9474
06:10:49,720 --> 06:10:50,920
AND CYCLE THAT OVER AND OVER

9475
06:10:50,920 --> 06:10:52,960
AGAIN. SO THAT UN UNFORTUNATELY

9476
06:10:52,960 --> 06:10:55,840
THAT O PROCESS IS NORMAL FOR

9477
06:10:55,840 --> 06:10:58,280
RARE DISEASE BECAUSE WE MAY NOT

9478
06:10:58,280 --> 06:11:00,640
HAVE EXACT TEST ABLE TO DIAGNOSE

9479
06:11:00,640 --> 06:11:02,520
MANY RARE DISEASES BUT ALSO IT

9480
06:11:02,520 --> 06:11:04,640
CAN TAKE A WHILE BEFORE IF THERE

9481
06:11:04,640 --> 06:11:06,520
IS ONE FOR PROVIDER TO KNOW TO

9482
06:11:06,520 --> 06:11:09,320
ORDER IT SO PART OF THE ENTIRE

9483
06:11:09,320 --> 06:11:10,840
ISSUE IS UNDERSTANDING THAT THIS

9484
06:11:10,840 --> 06:11:13,120
IS A JOURNEY, AS A WHOLE, THAT

9485
06:11:13,120 --> 06:11:14,320
MANY DIFFERENT PATIENTS OF RARE

9486
06:11:14,320 --> 06:11:16,840
DISEASE WILL FACE. AND PART IS

9487
06:11:16,840 --> 06:11:18,200
UNDERSTANDING WHO YOU NEED TO

9488
06:11:18,200 --> 06:11:20,440
REACH OUT TO AND CONNECT WITH,

9489
06:11:20,440 --> 06:11:22,120
THIS METHOD I SHOWED EARLIER ON

9490
06:11:22,120 --> 06:11:23,920
THE RIGHT HAND SIDE IS PATIENT

9491
06:11:23,920 --> 06:11:25,720
JOURNEY MAP TOWARDS DIAGNOSIS BY

9492
06:11:25,720 --> 06:11:27,840
THE NATIONAL ORGANIZATION FOR

9493
06:11:27,840 --> 06:11:31,360
RARE DISEASE, NORD, THEY CALL

9494
06:11:31,360 --> 06:11:34,200
ATTENTION TO THE ROLE OF PRIMARY

9495
06:11:34,200 --> 06:11:35,640
CARE PROVIDE A Z WELL AS HOW YOU

9496
06:11:35,640 --> 06:11:37,440
YOU NEED TO UTILIZE DIFFERENT

9497
06:11:37,440 --> 06:11:39,120
SPECIALISTS YOU ARE SEEING. 

9498
06:11:39,120 --> 06:11:42,560
PRIMARY CARE PROVIDERS ARE

9499
06:11:42,560 --> 06:11:44,480
IMPORTANTLY INTEGRAL TO THIS

9500
06:11:44,480 --> 06:11:45,880
ODYSSEY FINDING PHYSICIAN

9501
06:11:45,880 --> 06:11:48,920
CHAMPION TO COORDINATE CARE AND

9502
06:11:48,920 --> 06:11:50,040
HELP CONNECT YOU THROUGH

9503
06:11:50,040 --> 06:11:51,320
DIFFERENT SPECIALISTS AND

9504
06:11:51,320 --> 06:11:52,280
INTEGRATE THAT INFORMATION IS

9505
06:11:52,280 --> 06:11:54,280
VITAL TO THE DIAGNOSTIC PROCESS.

9506
06:11:54,280 --> 06:11:56,320
SO FINDING SOMEONE YOU CAN TRUST

9507
06:11:56,320 --> 06:11:58,760
AND BE ABLE TO SHARE YOUR

9508
06:11:58,760 --> 06:12:01,280
SYMPTOMS YOUR HISTORY, AND YOUR

9509
06:12:01,280 --> 06:12:04,440
STORY, MAKE AN UNDERSTANDING AND

9510
06:12:04,440 --> 06:12:05,440
INTERPRET HEALTH GUIDE THROUGH

9511
06:12:05,440 --> 06:12:06,760
THIS IS VITAL.  FOR THOSE

9512
06:12:06,760 --> 06:12:08,520
LOOKING FOR SPECIALISTS AND NOT

9513
06:12:08,520 --> 06:12:10,120
QUITE SURE WHERE TO GO NEXT, I

9514
06:12:10,120 --> 06:12:11,480
WANT TO BRING UP AGAIN RESEARCH

9515
06:12:11,480 --> 06:12:13,720
THAT WE WERE SHARING EARLIER,

9516
06:12:13,720 --> 06:12:15,720
RARE DISEASE INFORMATION CENTER

9517
06:12:15,720 --> 06:12:17,760
WE HAVE A CONTACT CENTER THAT IS

9518
06:12:17,760 --> 06:12:19,040
STAFFED BY INFORMATION

9519
06:12:19,040 --> 06:12:20,720
SPECIALISTS WHO CAN PROVIDE

9520
06:12:20,720 --> 06:12:21,920
SUPPORT INDIVIDUALIZED SUPPORT

9521
06:12:21,920 --> 06:12:24,160
IN FINDING MEDICAL SPECIALIST,

9522
06:12:24,160 --> 06:12:25,320
PATIENT ORGANIZATIONS OR OTHER

9523
06:12:25,320 --> 06:12:26,520
TYPES OF INFORMATION YOU ARE

9524
06:12:26,520 --> 06:12:28,320
LOOKING FOR ABOUT RARE DISEASE. 

9525
06:12:28,320 --> 06:12:31,320
VISIT THAT WEBSITE AND OR GO TO

9526
06:12:31,320 --> 06:12:32,120
OUR EXHIBIT BOOTH IF YOU HAVE

9527
06:12:32,120 --> 06:12:33,440
ANY QUESTIONS AT ALL.  IN

9528
06:12:33,440 --> 06:12:36,960
ADDITION TO THAT, RESOURCES WERE

9529
06:12:36,960 --> 06:12:38,480
SHARED EARLIER ABOUT UNDIAGNOSED

9530
06:12:38,480 --> 06:12:40,120
DISEASE NETWORK HERE IS A LINK

9531
06:12:40,120 --> 06:12:44,880
DOWN HERE

9532
06:12:44,880 --> 06:12:46,120
UNDIAGNOSED.HMS.HARVARD.EDU.

9533
06:12:46,120 --> 06:12:48,880
THAT SERVICE IS REALLY TO CUSS

9534
06:12:48,880 --> 06:12:50,520
FOCUSED ON FOLKS THAT HAVE GONE

9535
06:12:50,520 --> 06:12:53,240
THROUGH AND BEEN THROUGH

9536
06:12:53,240 --> 06:12:53,800
MULTIPLE DIFFERENT STAGE OF

9537
06:12:53,800 --> 06:12:55,920
EVALUATION IN THAT DIAGNOSTIC

9538
06:12:55,920 --> 06:12:57,120
PROCESS, FIRST AN FOREMOST

9539
06:12:57,120 --> 06:12:58,840
STARTING TO MAKE SURE THAT YOU

9540
06:12:58,840 --> 06:13:00,040
FIND THE RIGHT SPECIALIST AND

9541
06:13:00,040 --> 06:13:02,600
YOU START THAT DIAGNOSTIC

9542
06:13:02,600 --> 06:13:03,920
ODYSSEY WITH THE RIGHT CHAMPIONS

9543
06:13:03,920 --> 06:13:05,720
AND MEDICAL CARE TEAM TO SUPPORT

9544
06:13:05,720 --> 06:13:08,080
YOU. SO PLEASE REACH OUT IF YOU

9545
06:13:08,080 --> 06:13:10,360
HAVE ANY QUESTIONS, IN TERMS OF

9546
06:13:10,360 --> 06:13:12,720
INFORMATION AND DEFINITELY WE

9547
06:13:12,720 --> 06:13:14,400
WILL HEAR BACK FROM OUR

9548
06:13:14,400 --> 06:13:15,160
PANELISTS IN A MOMENT. THANK

9549
06:13:15,160 --> 06:13:28,720
YOU. 

9550
06:13:28,720 --> 06:13:30,440
>> I SINCERERY APPRECIATE ALL

9551
06:13:30,440 --> 06:13:31,680
THE PANELISTS TO THEIR

9552
06:13:31,680 --> 06:13:32,760
PARTICIPATION AND SHARE THE

9553
06:13:32,760 --> 06:13:35,480
STORY SPECIFIC STAGES OF TO

9554
06:13:35,480 --> 06:13:37,120
BRING YOUR FAVORITES AND TO SHOW

9555
06:13:37,120 --> 06:13:38,840
IT TO ALL OF US. I HAVE A

9556
06:13:38,840 --> 06:13:41,720
QUESTION TO ALL OF YOU. WHAT IS

9557
06:13:41,720 --> 06:13:43,400
THE ONE TAKE HOME MESSAGE YOU

9558
06:13:43,400 --> 06:13:48,960
WANT TO SEND TO OUR AUDIENCE? 

9559
06:13:48,960 --> 06:13:51,120
>> I WOULD SAY TO NEVER GIVE UP.

9560
06:13:51,120 --> 06:13:55,520
TO STAY FIGHTING STAY STRONG

9561
06:13:55,520 --> 06:13:56,760
CONTINUE TO LOOK FOR POSITIVE

9562
06:13:56,760 --> 06:13:58,760
AND OPTIMISTIC AND HAPPY THINGS

9563
06:13:58,760 --> 06:14:01,120
IN LIFE. WE HAVE ALL HAD TO DEAL

9564
06:14:01,120 --> 06:14:02,880
WITH THINGS THAT ARE

9565
06:14:02,880 --> 06:14:04,920
UNFORTUNATE. BUT THERE'S STILL

9566
06:14:04,920 --> 06:14:07,080
WAYS TO TRY TO PURSUE THAT AND

9567
06:14:07,080 --> 06:14:11,480
BE AS HAPPY AS WE CAN.  

9568
06:14:11,480 --> 06:14:14,240
>> I WOULD SAY TO TRUST YOUR

9569
06:14:14,240 --> 06:14:15,320
INSTINCTS, IF YOU FEEL THAT

9570
06:14:15,320 --> 06:14:17,160
SOMETHING IS WRONG WITH YOUR

9571
06:14:17,160 --> 06:14:20,520
CHILD AND DIAGNOSIS ISN'T OR

9572
06:14:20,520 --> 06:14:23,280
EVEN LACK OF DIAGNOSIS ISN'T

9573
06:14:23,280 --> 06:14:27,800
WHAT YOU FEEL IS THE ANSWER TO

9574
06:14:27,800 --> 06:14:30,040
EXPLORE GETTING DIAGNOSED, AND

9575
06:14:30,040 --> 06:14:32,520
THEN ALSO ONCE YOU HAVE THAT

9576
06:14:32,520 --> 06:14:37,120
DIAGNOSIS, DON'T BE CONFINED TO

9577
06:14:37,120 --> 06:14:38,720
IT BY LIMITATION. EVERY CHILD IS

9578
06:14:38,720 --> 06:14:39,680
DIFFERENT. MEET THEM WHERE THEY

9579
06:14:39,680 --> 06:14:42,760
ARE AND KNOW THAT THEY WILL GET

9580
06:14:42,760 --> 06:14:45,360
THERE IN THEIR OWN TIME. AVA HAS

9581
06:14:45,360 --> 06:14:47,160
DONE MORE THAN WE WERE TOLD SHE

9582
06:14:47,160 --> 06:14:49,520
WOULD DO WITH HER DIAGNOSIS AND

9583
06:14:49,520 --> 06:14:52,120
SHE CONTINUES EVERY DAY VERY,

9584
06:14:52,120 --> 06:14:58,160
VERY SMALL BUT IT CAN HAPPEN

9585
06:14:58,160 --> 06:15:01,360
>> I WANT TO GIVE HOPE TO PEOPLE

9586
06:15:01,360 --> 06:15:03,720
THAT SEEKING ANSWERS AND DOING

9587
06:15:03,720 --> 06:15:05,960
THESE RESEARCH STUDIES WE ARE

9588
06:15:05,960 --> 06:15:08,760
PROOF THAT IT'S WORKING. WE ARE

9589
06:15:08,760 --> 06:15:11,120
REAPING THE BENEFITS OF THE

9590
06:15:11,120 --> 06:15:12,720
DIAGNOSIS OF OTHER PEOPLE AND

9591
06:15:12,720 --> 06:15:13,920
THE TREATMENTS THAT ARE WORKING

9592
06:15:13,920 --> 06:15:15,760
ON OTHER PEOPLE. WE ARE

9593
06:15:15,760 --> 06:15:17,840
DEFINITELY STILL EXPERIMENTAL,

9594
06:15:17,840 --> 06:15:20,120
THEY DON'T KNOW HOW MY DAUGHTER

9595
06:15:20,120 --> 06:15:22,400
IS GOING TO REACT TO MEDS LONG

9596
06:15:22,400 --> 06:15:24,080
TERM BUT THERE IS HOPE. IT IS

9597
06:15:24,080 --> 06:15:27,160
WORKING. RESEARCH IS WORKING.

9598
06:15:27,160 --> 06:15:29,480
SEEKING ANSWERS AND GETTING

9599
06:15:29,480 --> 06:15:30,720
TREATMENT IS WORKING. WE ARE

9600
06:15:30,720 --> 06:15:31,920
PROOF OF THAT, OUR FAMILY IS

9601
06:15:31,920 --> 06:15:33,480
PROOF OF THAT. IN SUCH A SHORT

9602
06:15:33,480 --> 06:15:34,920
AMOUNT OF TIME ONE GENERAL RANKS

9603
06:15:34,920 --> 06:15:39,000
TO NEXT. GENERATION TO THE NEXT.

9604
06:15:39,000 --> 06:15:41,080
ANYTHING TO SAY BABY TO SAY TO A

9605
06:15:41,080 --> 06:15:42,080
KID WHO MIGHT HAVE RARE DISEASE

9606
06:15:42,080 --> 06:15:45,400
LIKE YOU? THE WHAT WOULD YOU

9607
06:15:45,400 --> 06:15:48,040
TELL THEM? WHEN THEY ARE SCARED

9608
06:15:48,040 --> 06:15:49,640
MANY THE HOSPITAL ABOUT NEEDLESS

9609
06:15:49,640 --> 06:15:50,040
OR SOMETHING.

9610
06:15:50,040 --> 06:15:50,560
>> I DON'T KNOW.

9611
06:15:50,560 --> 06:15:53,040
>> YOU DON'T KNOW? WOULD YOU

9612
06:15:53,040 --> 06:15:54,720
TELL THEM IT IS OKAY AND IT GETS

9613
06:15:54,720 --> 06:15:56,520
BETTER? YEAH? AND TO BE STRONG

9614
06:15:56,520 --> 06:16:01,640
AND BRAVE? YEAH. 

9615
06:16:01,640 --> 06:16:04,120
>> BIBLE VERSE BE STRONG AN

9616
06:16:04,120 --> 06:16:04,480
COURAGEOUS ONE.

9617
06:16:04,480 --> 06:16:05,320
>> UH-HUH. 

9618
06:16:05,320 --> 06:16:12,120
>> YES.  

9619
06:16:12,120 --> 06:16:14,960
>> I GUESS SOMETHING THAT I WILL

9620
06:16:14,960 --> 06:16:17,320
SAY IS TO HAVE FAITH EVEN WHEN

9621
06:16:17,320 --> 06:16:20,600
IT GETS REALLY HARD AND EVEN IF

9622
06:16:20,600 --> 06:16:25,120
IT SEEMS IMPOSSIBLE TO ACHIEVE,

9623
06:16:25,120 --> 06:16:27,160
AND FROM MY EXPERIENCE WE BOTH

9624
06:16:27,160 --> 06:16:29,800
KNOW THAT THEY ACTUALLY IT RUBS

9625
06:16:29,800 --> 06:16:33,400
OFF ON PEOPLE AND -- YEAH, WHEN

9626
06:16:33,400 --> 06:16:36,080
YOU HAVE ENOUGH FAITH YOU CAN DO

9627
06:16:36,080 --> 06:16:36,320
ANYTHING.

9628
06:16:36,320 --> 06:16:41,040
>> OH, YEAH. EVEN BEING WITH HER

9629
06:16:41,040 --> 06:16:43,640
AS A CHILD THOUGH SHE'S 22 RIGHT

9630
06:16:43,640 --> 06:16:45,600
NOW, BUT SEEING KIDS MANY THE

9631
06:16:45,600 --> 06:16:48,280
HOSPITAL AND HOW RESILIENT THEY

9632
06:16:48,280 --> 06:16:52,760
ARE, REALLY IS AMAZING TO SEE.

9633
06:16:52,760 --> 06:16:55,640
EVEN GROWN UPS, BECAUSE SEEING

9634
06:16:55,640 --> 06:16:59,280
ONE THING THAT I LEARNED THAT

9635
06:16:59,280 --> 06:17:03,000
LOOKING AT COMMERCIALS ON TV,

9636
06:17:03,000 --> 06:17:05,680
DOES NOT COMPARE TO REAL LIFE

9637
06:17:05,680 --> 06:17:07,520
SITUATIONS THAT PEOPLE GO

9638
06:17:07,520 --> 06:17:08,880
THROUGH. I KNOW THE

9639
06:17:08,880 --> 06:17:11,160
ADVERTISEMENTS ARE NICE BUT WHEN

9640
06:17:11,160 --> 06:17:14,120
IT HAPPENS TO YOU IT CHANGES

9641
06:17:14,120 --> 06:17:16,840
YOUR LIFE COMPLETELY.  BUT YOU

9642
06:17:16,840 --> 06:17:18,280
LEARN HOW TO DEAL WITH IT AND

9643
06:17:18,280 --> 06:17:22,920
HOW TO COPE WITH IT. AND LIKE

9644
06:17:22,920 --> 06:17:25,520
TROY SAID, LOOK AT THE POSITIVE

9645
06:17:25,520 --> 06:17:27,600
IN IT ALL. AND IT ALL WILL WORK

9646
06:17:27,600 --> 06:17:31,240
OUT. EVEN ON THE BAD DAYS.  

9647
06:17:31,240 --> 06:17:33,040
>> THANK YOU, VERY MUCH FOR

9648
06:17:33,040 --> 06:17:34,320
SHARING YOUR STORY AND I HOPE

9649
06:17:34,320 --> 06:17:37,560
THE AUDIENCE, WHEREVER YOU ARE

9650
06:17:37,560 --> 06:17:39,560
ON YOUR ODYSSEY, BEGINNING

9651
06:17:39,560 --> 06:17:41,720
MIDDLE O OR END, HOPEFULLY GIVE

9652
06:17:41,720 --> 06:17:43,760
EVERYONE THE HOPE. THANK YOU FOR

9653
06:17:43,760 --> 06:17:45,520
WATCHING OUR SESSION AND IN THE

9654
06:17:45,520 --> 06:17:46,920
END I WOULD LIKE TO BRING YOUR

9655
06:17:46,920 --> 06:17:48,680
ATTENTION THAT THE USEFUL TOOL

9656
06:17:48,680 --> 06:17:50,560
AND RESOURCES ARE PREPARED FOR

9657
06:17:50,560 --> 06:18:00,920
YOU. THANK YOU. 

9658
06:18:00,920 --> 06:18:02,600
>> HELLO, EVERYONE. THANK YOU SO

9659
06:18:02,600 --> 06:18:04,040
MUCH FOR STAYING WITH US FOR

9660
06:18:04,040 --> 06:18:09,480
RARE DISEASE DAY NIH. WE HAD

9661
06:18:09,480 --> 06:18:10,520
NEARLY 2000 PEOPLE JOINING FROM

9662
06:18:10,520 --> 06:18:13,280
ALL OVER THE WORLD. I DON'T KNOW

9663
06:18:13,280 --> 06:18:16,520
HOW SOMETHING CAN BE SO

9664
06:18:16,520 --> 06:18:18,080
EXHAUSTING YET SO EXHILARATING

9665
06:18:18,080 --> 06:18:18,920
SO THANK YOU SO MUCH FOR

9666
06:18:18,920 --> 06:18:21,000
STAYING. BEFORE I PROCEED I WANT

9667
06:18:21,000 --> 06:18:23,080
TO ONCE AGAIN THANK ALICE CHEN,

9668
06:18:23,080 --> 06:18:24,960
MIRA SHAW AND MANY OTHERS FOR

9669
06:18:24,960 --> 06:18:26,480
ORGANIZING THE INFORMATIVE AND

9670
06:18:26,480 --> 06:18:28,720
INSPIRING AGENDA TODAY. PLEASE

9671
06:18:28,720 --> 06:18:31,040
GIVE ALICE AND TEAM A ROUND OF

9672
06:18:31,040 --> 06:18:31,920
VIRTUAL APPLAUSE. THANK YOU SO

9673
06:18:31,920 --> 06:18:33,720
MUCH.

9674
06:18:33,720 --> 06:18:35,440
I WANT TO CLOSE OUT BY SHARING

9675
06:18:35,440 --> 06:18:38,040
SOME REFLECTIONS OF THE DAY AND

9676
06:18:38,040 --> 06:18:40,760
THERE ARE MANY OF THEM. I FOUND

9677
06:18:40,760 --> 06:18:43,440
IT VERY DIFFICULT TO NARROW IT

9678
06:18:43,440 --> 06:18:45,120
DOWN. AT N CATS EVERY DAY IS

9679
06:18:45,120 --> 06:18:46,480
RARE DISEASE DAY BUT I LEARNED

9680
06:18:46,480 --> 06:18:47,480
SOMETHING NEW FROM RARE DISEASE

9681
06:18:47,480 --> 06:18:49,280
DAY AT NIH. THIS EVENT THAT WE

9682
06:18:49,280 --> 06:18:51,840
HAD TODAY. AND I HOPE YOU HAVE

9683
06:18:51,840 --> 06:18:54,040
TOO. WE HEARD ABOUT THE

9684
06:18:54,040 --> 06:18:54,720
STAGGERING ECONOMIC BURDEN OF

9685
06:18:54,720 --> 06:18:56,280
RARE DISEASE. THROUGH NCATS LED

9686
06:18:56,280 --> 06:18:57,880
STUDY ON IMPACT OF RARE DISEASE

9687
06:18:57,880 --> 06:19:00,320
ON ON THE HEALTHCARE SYSTEM. WE

9688
06:19:00,320 --> 06:19:01,760
FOUND THAT DIRECT MEDICAL COSTS

9689
06:19:01,760 --> 06:19:06,320
FOR RARE DISEASES IN ONE YEAR IS

9690
06:19:06,320 --> 06:19:07,520
ABOUT $400 BILLION IN DIRECT

9691
06:19:07,520 --> 06:19:09,880
MEDICAL COSTS. AND THIS STUDY

9692
06:19:09,880 --> 06:19:11,320
WAS ON THE HEELS OF ANOTHER

9693
06:19:11,320 --> 06:19:12,920
IMPORTANT STUDY LIEU THE EVERY

9694
06:19:12,920 --> 06:19:14,960
LIFE FOUNDATION WHERE THEY FOUND

9695
06:19:14,960 --> 06:19:17,200
USING VERY DIFFERENT APPROACH

9696
06:19:17,200 --> 06:19:20,360
VERY SIMILAR NUMBER. IN ABOUT

9697
06:19:20,360 --> 06:19:21,320
$450 BILLION IN DIRECT MEDICAL

9698
06:19:21,320 --> 06:19:26,080
COSTS.  UPWARDS OF $1 TRILLION

9699
06:19:26,080 --> 06:19:28,400
IN TOTAL COSTS PER YEAR FOR

9700
06:19:28,400 --> 06:19:30,760
THOSE WITH RARE DISEASES. THESE

9701
06:19:30,760 --> 06:19:32,440
DATA ARE BEFORE COVID AND I

9702
06:19:32,440 --> 06:19:34,560
WOULD BET COVID ONLY EXACERBATED

9703
06:19:34,560 --> 06:19:36,760
THESE COSTS. NOTE THAT THE ONE

9704
06:19:36,760 --> 06:19:38,680
TRILLION COST INCORP RATES COSTS

9705
06:19:38,680 --> 06:19:42,520
TO CAREGIVERS.  AND I'M REMINDED

9706
06:19:42,520 --> 06:19:45,160
OF DR. MARGARET BEVIN POINTS OF

9707
06:19:45,160 --> 06:19:46,360
STRESSORS O CAREGIVERS AND

9708
06:19:46,360 --> 06:19:48,080
IMPACT ON QUALITY OF LIFE. SHE

9709
06:19:48,080 --> 06:19:49,920
TALKED ABOUT HER DAUGHTER WITH

9710
06:19:49,920 --> 06:19:51,120
POMPEII DISEASE DIAGNOSIS

9711
06:19:51,120 --> 06:19:52,000
THROUGH A NEWBORN SCREENING

9712
06:19:52,000 --> 06:19:56,320
PROGRAM.  SEEING THE IMPACT OF

9713
06:19:56,320 --> 06:19:57,280
DIAGNOSIS ON GRANDDAUGHTER AND

9714
06:19:57,280 --> 06:20:01,880
FAMILY. SHE GAVE US THE REST

9715
06:20:01,880 --> 06:20:04,240
ACRONYM R IS REST, E IS EAT

9716
06:20:04,240 --> 06:20:05,800
HEALTHY, S IS SLEEP AND T IS

9717
06:20:05,800 --> 06:20:08,120
TAKE CARE OF YOURSELF.  AND SHE

9718
06:20:08,120 --> 06:20:10,440
GAVE BLANKET PERMISSION TO ALL

9719
06:20:10,440 --> 06:20:12,280
CAREGIVERS OUT THERE, TO INVOKE

9720
06:20:12,280 --> 06:20:18,440
REST. ALWAYS. WE HEARD FROM

9721
06:20:18,440 --> 06:20:21,480
MEHMET WITH ATAXIA, SHE WAS ALSO

9722
06:20:21,480 --> 06:20:23,520
IDENTIFIED THROUGH NEWBORN

9723
06:20:23,520 --> 06:20:25,080
SCREENING. AND MEHMET WAS

9724
06:20:25,080 --> 06:20:26,400
WORKING HARD EVER SINCE THAT

9725
06:20:26,400 --> 06:20:27,920
DIAGNOSIS TO NAVIGATE THE

9726
06:20:27,920 --> 06:20:29,560
RESEARCH AND CLINICAL SPACE

9727
06:20:29,560 --> 06:20:31,400
TOWARDS ASO THERAPY. THAT COULD

9728
06:20:31,400 --> 06:20:33,720
HELP HIS DAUGHTER.  HE FOUND A

9729
06:20:33,720 --> 06:20:35,200
RESEARCHER TO WORK WITH HIM AND

9730
06:20:35,200 --> 06:20:36,880
FINDING A RESEARCHER HE FOUND

9731
06:20:36,880 --> 06:20:38,520
OUT IS NOT ALWAYS THE SAME THING

9732
06:20:38,520 --> 06:20:40,520
AS FINDING A TREATMENT. BUT IT

9733
06:20:40,520 --> 06:20:42,720
IS A PRETTY GOOD START. HOW CAN

9734
06:20:42,720 --> 06:20:44,840
WE HELP FAMILY LIKE MEHMET'S WHO

9735
06:20:44,840 --> 06:20:46,200
MAY NOT HAVE A SIMILAR PATH OR

9736
06:20:46,200 --> 06:20:48,200
KNOW WHAT TO DO. NEWBORN

9737
06:20:48,200 --> 06:20:49,440
SCREENING AND ADVANCE GENETIC

9738
06:20:49,440 --> 06:20:51,360
TESTING IS CRITICAL FOR HELPING

9739
06:20:51,360 --> 06:20:53,640
IDENTIFY DIAGNOSE RARE DISEASE

9740
06:20:53,640 --> 06:20:55,000
EARLY AND IS ONE OF THE KEYS TO

9741
06:20:55,000 --> 06:20:56,360
SHORTENING THE DIAGNOSTIC

9742
06:20:56,360 --> 06:20:59,360
ODYSSEY. BUT MOST OF THE TIME

9743
06:20:59,360 --> 06:21:01,560
THAT ALSO MEANS THE NEXT STEP IS

9744
06:21:01,560 --> 06:21:03,120
TREATMENT ODYSSEY. THAT'S WHEN

9745
06:21:03,120 --> 06:21:05,160
THAT BEGINS, GETTING A DIAGNOSIS

9746
06:21:05,160 --> 06:21:07,520
IS NEEDED FIRST STEP BUT THEN IT

9747
06:21:07,520 --> 06:21:08,320
IS THE SEARCH FOR THOSE

9748
06:21:08,320 --> 06:21:10,720
TREATMENTS AND CURES.  ANOTHER

9749
06:21:10,720 --> 06:21:12,080
THING WE CAN DO IS HIGHLIGHT

9750
06:21:12,080 --> 06:21:14,080
AWARENESS AND MAKE RESOURCES

9751
06:21:14,080 --> 06:21:16,120
AVAILABLE. ERIC SID TALKED ABOUT

9752
06:21:16,120 --> 06:21:17,360
SOME NCATS RELATED RESOURCES

9753
06:21:17,360 --> 06:21:19,520
SUCH AS THE GENETIC AND RARE

9754
06:21:19,520 --> 06:21:20,840
DISEASE INFORMATION CENTER OR

9755
06:21:20,840 --> 06:21:22,080
GARD.  AND THERE ARE MANY

9756
06:21:22,080 --> 06:21:23,360
ADDITIONAL RESOURCES LIKE THAT

9757
06:21:23,360 --> 06:21:25,320
ON THE SLIDE THAT HAVE JUST

9758
06:21:25,320 --> 06:21:28,520
SHOWN MOMENTS AGO. OTHER

9759
06:21:28,520 --> 06:21:30,120
RESOURCES THROUGH PARTNER

9760
06:21:30,120 --> 06:21:30,760
ORGANIZATIONS THAT WERE

9761
06:21:30,760 --> 06:21:32,320
HIGHLIGHTED TODAY.  WE ALSO

9762
06:21:32,320 --> 06:21:33,880
HEARD ABOUT MANY NEW EFFORTS AND

9763
06:21:33,880 --> 06:21:37,600
STORIES THAT WERE MENTIONED. DR.

9764
06:21:37,600 --> 06:21:38,920
SCOTT DEMAREST FROM N OF ONE

9765
06:21:38,920 --> 06:21:39,960
ORGANIZATION IS BUILDING NETWORK

9766
06:21:39,960 --> 06:21:41,200
OF COLLABORATORS AND

9767
06:21:41,200 --> 06:21:44,080
STAKEHOLDERS TO BRING THE

9768
06:21:44,080 --> 06:21:45,880
MOVEMENT OF MILA TO MORE RARE

9769
06:21:45,880 --> 06:21:47,440
DISEASE.  HE TALKED SHARING DATA

9770
06:21:47,440 --> 06:21:50,920
AND LESSONS LEARNED AN THE GOOD

9771
06:21:50,920 --> 06:21:52,720
AND BAD. HE TALKED ABOUT MAKING

9772
06:21:52,720 --> 06:21:54,280
RESOURCES SCALABLE AND THE WORK

9773
06:21:54,280 --> 06:21:58,000
FEASIBLE OF N OF ONE OR N OF

9774
06:21:58,000 --> 06:21:59,400
SMALL DISEASES AS WE DISCUSSED

9775
06:21:59,400 --> 06:22:00,840
DURING THAT PANEL. IN THIS ARE

9776
06:22:00,840 --> 06:22:03,480
THE KINDS OF EFFORTS THAT WILL

9777
06:22:03,480 --> 06:22:04,480
EVERYONE SCALE RESEARCH AND

9778
06:22:04,480 --> 06:22:05,920
RESEARCH ECOSYSTEM SO THERE'S

9779
06:22:05,920 --> 06:22:07,240
MORE EXPERIENCE AN MORE

9780
06:22:07,240 --> 06:22:10,120
EXPERTISE FOR ALL OF US. AND WE

9781
06:22:10,120 --> 06:22:11,360
ARE ALL NEEDED TO HELP MOVE THAT

9782
06:22:11,360 --> 06:22:13,680
NEEDLE.  DR. PJ BROOKS TALKED

9783
06:22:13,680 --> 06:22:15,160
ABOUT A VARIETY OF APPROACHES OF

9784
06:22:15,160 --> 06:22:16,280
LOOKING AT MORE THAN ONE DISEASE

9785
06:22:16,280 --> 06:22:19,840
AT A TIME. RARE DISEASES ARE

9786
06:22:19,840 --> 06:22:21,920
DIVERSITY OF PEOPLE. WITH

9787
06:22:21,920 --> 06:22:23,720
DIVERSITY OF DISEASES AND IT

9788
06:22:23,720 --> 06:22:24,600
REQUIRES A DIVERSITY OF

9789
06:22:24,600 --> 06:22:29,000
APPROACHES. WE TAKED ABOUT AAV

9790
06:22:29,000 --> 06:22:30,400
GENE THERAPY FOR PLATFORM VECTOR

9791
06:22:30,400 --> 06:22:31,960
GENE THERAPY AND SPOKE GENE

9792
06:22:31,960 --> 06:22:33,520
THERAPY CONSORTIUM, WE TALKED

9793
06:22:33,520 --> 06:22:35,920
GENE EDITING AND ANTISENSE

9794
06:22:35,920 --> 06:22:36,960
OLIGOKNEW CLEO TIDES AND THERE'S

9795
06:22:36,960 --> 06:22:38,920
WORK IN OTHER TYPES OF TREATMENT

9796
06:22:38,920 --> 06:22:40,920
MODALITIES THROUGH NCATS SHARED

9797
06:22:40,920 --> 06:22:43,320
MOLECULAR ENTITY PROGRAM. THERE

9798
06:22:43,320 --> 06:22:45,200
WAS AN ENTIRE SESSION ON

9799
06:22:45,200 --> 06:22:46,480
DIVERSITY RARE DISEASE RESEARCH

9800
06:22:46,480 --> 06:22:49,000
AND EQUITY OF CARE WITH

9801
06:22:49,000 --> 06:22:49,920
MODERATING THAT SESSION AND

9802
06:22:49,920 --> 06:22:51,160
TALKING IMPROVING OUR DIVERSITY

9803
06:22:51,160 --> 06:22:53,120
IN GENETIC STUDIES. AND ENSURING

9804
06:22:53,120 --> 06:22:55,560
THAT DIVERSITY IS REFLECTED IN

9805
06:22:55,560 --> 06:22:58,760
DIVERSE WAYS. DR. (INAUDIBLE)

9806
06:22:58,760 --> 06:23:00,920
POINTED OUT INCREASING DIVERSITY

9807
06:23:00,920 --> 06:23:02,680
OF ANCESTRAL POPULATIONS IN

9808
06:23:02,680 --> 06:23:04,120
GENETIC STUDIES SO IMPORTANT. WE

9809
06:23:04,120 --> 06:23:04,920
HAVE TO GAIN BETTER

9810
06:23:04,920 --> 06:23:06,520
UNDERSTANDING OF GENETIC

9811
06:23:06,520 --> 06:23:08,760
UNDERPINNINGS OF DISEASE

9812
06:23:08,760 --> 06:23:09,680
MECHANISMS AND DIVERSITY WE HAVE

9813
06:23:09,680 --> 06:23:11,000
IN IN THE PEOPLE WITH THOSE

9814
06:23:11,000 --> 06:23:15,360
DISEASES.  THIS DOVE TAILED

9815
06:23:15,360 --> 06:23:16,720
NICELY WITH SESSION 3 DESIGNING

9816
06:23:16,720 --> 06:23:18,440
CLINICAL TRIALS THAT INCORPORATE

9817
06:23:18,440 --> 06:23:21,040
BUILD FROM PATIENT VOICES. LED A

9818
06:23:21,040 --> 06:23:22,360
PANEL DISCUSSION TO TALK ABOUT

9819
06:23:22,360 --> 06:23:25,040
SPECIFIC EXAMPLE OF HOW ATR

9820
06:23:25,040 --> 06:23:26,520
PHARMA REACHED OUT TO THE

9821
06:23:26,520 --> 06:23:28,400
FOUNDATION FOR SARCOIDOSIS

9822
06:23:28,400 --> 06:23:30,400
RESEARCH ADVOCACY GROUP TO WORK

9823
06:23:30,400 --> 06:23:31,400
TOGETHER. THERE WERE TWO KEY

9824
06:23:31,400 --> 06:23:34,120
TAKE A AWAYS FOR ME IN THAT. ONE

9825
06:23:34,120 --> 06:23:36,760
WORKING WITH AD INVOLVE SKI

9826
06:23:36,760 --> 06:23:37,680
GROUPS EARLY AND OFTEN IS A KEY

9827
06:23:37,680 --> 06:23:39,800
POINT. THE SECOND ONE WAS THE

9828
06:23:39,800 --> 06:23:41,920
IDEA PATIENTS HAVE LIFE HAIKS TO

9829
06:23:41,920 --> 06:23:43,120
HELP COPE WITH THEIR RARE

9830
06:23:43,120 --> 06:23:46,560
DISEASE. AND THOSE LIFE HACKS

9831
06:23:46,560 --> 06:23:47,960
CAN BE HELPFUL INSIGHTS TO

9832
06:23:47,960 --> 06:23:50,640
BIOLOGY. THE BIOMEDICAL

9833
06:23:50,640 --> 06:23:53,400
ECOSYSTEM ADVOCACY INDUSTRY

9834
06:23:53,400 --> 06:23:54,840
ACADEMIA, AND PATIENT

9835
06:23:54,840 --> 06:23:56,520
PARTNERSHIPS, THAT WHOLE

9836
06:23:56,520 --> 06:23:57,360
ECOSYSTEM REQUIRES TRUST AND

9837
06:23:57,360 --> 06:23:59,920
TRANSPARENCY. TAKING THE FIRST

9838
06:23:59,920 --> 06:24:01,280
STEPS TO ACHIEVE THE GOAL OF

9839
06:24:01,280 --> 06:24:03,480
FINDING A THERAPY THAT WORKS AND

9840
06:24:03,480 --> 06:24:05,840
FOCUSES ON IMPACTING PATIENT

9841
06:24:05,840 --> 06:24:08,480
LIVES IS SO IMPORTANT. PATIENTS

9842
06:24:08,480 --> 06:24:10,880
ARE NOT DATA POINTS. THEY ARE

9843
06:24:10,880 --> 06:24:14,120
PARTNERS. AND THAT REMINDS ME OF

9844
06:24:14,120 --> 06:24:16,520
DR. LANGFORD'S ASK ACRONYM. A IS

9845
06:24:16,520 --> 06:24:18,080
ASSUME PEEP HE WILL WANT TO KNOW

9846
06:24:18,080 --> 06:24:19,320
WHAT -- PEOPLE WANT TO KNOW WHAT

9847
06:24:19,320 --> 06:24:21,800
OPTIONS ARE. S MEANS YOU CAN

9848
06:24:21,800 --> 06:24:23,480
SEEK COUNSELING OF STAKEHOLDERS.

9849
06:24:23,480 --> 06:24:24,240
ASK THEM WHAT THEY WANT AND

9850
06:24:24,240 --> 06:24:30,040
NEED.  K, KNOW YOUR NUMBERS. WHO

9851
06:24:30,040 --> 06:24:31,280
IS ACCEPTING TO BE PART OF YOUR

9852
06:24:31,280 --> 06:24:32,720
TRIAL OR STUDY AND WHY. THOSE

9853
06:24:32,720 --> 06:24:34,840
ARE IMPORTANT KEY ASPECTS OF

9854
06:24:34,840 --> 06:24:35,680
AROUND UNDERSTANDING WHAT

9855
06:24:35,680 --> 06:24:37,000
PATIENT NEEDS ARE AND HOW TO

9856
06:24:37,000 --> 06:24:37,680
IMPACT THOSE PATIENT NEEDS

9857
06:24:37,680 --> 06:24:40,320
BETTER.  WE NEED MORE INNOVATION

9858
06:24:40,320 --> 06:24:42,080
TO BE MORE PROFICIENT IN

9859
06:24:42,080 --> 06:24:42,880
BRINGING IN UNDERSERVED

9860
06:24:42,880 --> 06:24:44,800
COMMUNITIES AN COMMUNITIES OF

9861
06:24:44,800 --> 06:24:46,720
COLOR, THINKING ACCESS TO

9862
06:24:46,720 --> 06:24:48,920
STUDIES AN FILES. LACK OF

9863
06:24:48,920 --> 06:24:49,800
INSURANCE, LACK OF FLEXIBILITY

9864
06:24:49,800 --> 06:24:51,840
IN WORK, LACK OF TRANSPORTATION,

9865
06:24:51,840 --> 06:24:53,280
THESE ARE JUST A FEW THINGS THAT

9866
06:24:53,280 --> 06:24:55,200
ARE STILL FRUSTRATING ISSUES. 

9867
06:24:55,200 --> 06:24:57,880
AND WE ARE STARTING TO DO MORE

9868
06:24:57,880 --> 06:24:58,760
DECENTRALIZED TRIALS BUT WE HAVE

9869
06:24:58,760 --> 06:25:00,760
A LONG WAY TO GO. WE HAVE A

9870
06:25:00,760 --> 06:25:03,000
SHORT TIME TO GET THERE. WE

9871
06:25:03,000 --> 06:25:06,760
HEARD STORIES FROM SHILLAN

9872
06:25:06,760 --> 06:25:10,160
RODRIGUEZ PENA, MOM OF OF AADC

9873
06:25:10,160 --> 06:25:11,480
DEFICIENT CHILD AND TOE

9874
06:25:11,480 --> 06:25:13,640
MYOPEARSON TREATING DEFISH SAND

9875
06:25:13,640 --> 06:25:14,520
HOW THE IMPORTANCE OF

9876
06:25:14,520 --> 06:25:15,480
UNDERSTANDING THE NATURAL

9877
06:25:15,480 --> 06:25:16,560
HISTORY PUSHED TOWARDS TREATMENT

9878
06:25:16,560 --> 06:25:18,680
APPROACHES. DR. PEARSON TALKED

9879
06:25:18,680 --> 06:25:20,920
ABOUT TRAVELING TO THE PATIENTS

9880
06:25:20,920 --> 06:25:22,920
IN THEIR HOMES AND WHEN COVID

9881
06:25:22,920 --> 06:25:24,480
HIT THIS CHANGED TO TELEMEDICINE

9882
06:25:24,480 --> 06:25:28,120
VISITS.  HER CARE TO GENE

9883
06:25:28,120 --> 06:25:30,400
THERAPY TRIAL FOR AADC

9884
06:25:30,400 --> 06:25:31,720
DEFICIENCY SO SHE SAW THEM

9885
06:25:31,720 --> 06:25:32,720
BEFORE AND AFTER TREATMENT AND

9886
06:25:32,720 --> 06:25:36,200
FOUND WAY TO NOT MAKE IT TO

9887
06:25:36,200 --> 06:25:37,400
HERRITY DISTANCE OR BY COVID AND

9888
06:25:37,400 --> 06:25:38,520
WAS FOCUSED ON THE TREATMENT AND

9889
06:25:38,520 --> 06:25:40,520
MAKING AN IMPACT IN THOSE WHO

9890
06:25:40,520 --> 06:25:43,040
HAD AADC DEFICIENCY. FINDING

9891
06:25:43,040 --> 06:25:45,360
WAYS TO MEET PEOPLE WHERE DAY

9892
06:25:45,360 --> 06:25:47,560
ARE. WE HEARD FROM NORD ABOUT

9893
06:25:47,560 --> 06:25:48,920
SURVEY ON TELEHEALTH AND

9894
06:25:48,920 --> 06:25:50,200
MEDICINE, THESE APPROACHES ARE

9895
06:25:50,200 --> 06:25:52,320
STILL VERY MUCH NEEDED, IT WAS

9896
06:25:52,320 --> 06:25:55,440
ALSO SORT OF PRECAUTIONARY TALE

9897
06:25:55,440 --> 06:25:56,840
IN TELEHEALTH IS NOT THE PANACEA

9898
06:25:56,840 --> 06:25:58,560
FOR ACCESS WE WANT BUT IT CAN

9899
06:25:58,560 --> 06:25:59,920
GET THERE. THERE'S STILL

9900
06:25:59,920 --> 06:26:01,920
INTERNET ACCESS TO DISPARITIES,

9901
06:26:01,920 --> 06:26:03,680
TRUST AND NAVIGATING COMPUTER

9902
06:26:03,680 --> 06:26:05,840
BASED TECHNOLOGY AND HEALTHCARE,

9903
06:26:05,840 --> 06:26:08,600
AND EVEN RESEARCH PROGRAMS,

9904
06:26:08,600 --> 06:26:10,240
SEEING SOMEONE VIRTUALLY CAN BE

9905
06:26:10,240 --> 06:26:13,640
AWKWARD AND NOT BEING ABLE TO DO

9906
06:26:13,640 --> 06:26:15,560
SOME THINGS BETTER TO BE DONE IN

9907
06:26:15,560 --> 06:26:17,440
PERSON. BUT TELEHEALTH THESE ARE

9908
06:26:17,440 --> 06:26:18,720
FANTASTIC TOOLS THAT PROVIDE

9909
06:26:18,720 --> 06:26:20,400
NEEDED ACCESS. AND IT IS HERE TO

9910
06:26:20,400 --> 06:26:23,800
STAY. AND IT CAN ONLY GET

9911
06:26:23,800 --> 06:26:27,120
BETTER. WE HEARD FROM JIM OF THE

9912
06:26:27,120 --> 06:26:28,800
CURE JM FOUNDATION AND GOT

9913
06:26:28,800 --> 06:26:32,000
INSPIRED BY KATHERINE AILED FORD

9914
06:26:32,000 --> 06:26:35,320
TEACHING FROM GOING FROM ZERO TO

9915
06:26:35,320 --> 06:26:36,760
CURE. KATHERINE TALKED ABOUT HER

9916
06:26:36,760 --> 06:26:39,400
OWN PATIENT JOURNEY WITH

9917
06:26:39,400 --> 06:26:41,720
SOMEWHERE,M AND HOW SHE BELIEVES

9918
06:26:41,720 --> 06:26:43,600
NIH WILL FIND TREATMENTS AND

9919
06:26:43,600 --> 06:26:45,720
PARTICIPATE IN RESEARCH. IT IS A

9920
06:26:45,720 --> 06:26:47,360
STORY MUCH LIKE MONIQUE AND

9921
06:26:47,360 --> 06:26:49,600
VIVIANNE AND TERRENCE AND TERRAN

9922
06:26:49,600 --> 06:26:52,360
AND ERIKA AND TROY WHO JUST ALL

9923
06:26:52,360 --> 06:26:54,680
TALKED ABOUT THEIR OWN

9924
06:26:54,680 --> 06:26:57,120
TREATMENT. THESE WERE THE PANELS

9925
06:26:57,120 --> 06:26:59,080
WE COULD FIT IN TODAY, THERE ARE

9926
06:26:59,080 --> 06:27:00,400
SO MANY MORE AND I CAN'T THANK

9927
06:27:00,400 --> 06:27:03,320
THE SPEAKERS, AND THE PANELISTS

9928
06:27:03,320 --> 06:27:04,520
AND OUR PATIENTS ENOUGH FOR

9929
06:27:04,520 --> 06:27:07,120
SHARING THEIR STORIES ESPECIALLY

9930
06:27:07,120 --> 06:27:08,920
THOSE SHARING DIAGNOSTIC

9931
06:27:08,920 --> 06:27:10,240
ODYSSEY, THOSE ARE STORIES OF

9932
06:27:10,240 --> 06:27:12,720
BRAVERY, COMPASSION.  CREATIVITY

9933
06:27:12,720 --> 06:27:17,000
AND INNOVATION.  AND GRIT.  

9934
06:27:17,000 --> 06:27:18,600
THERE ARE RARE DISEASE PATIENTS

9935
06:27:18,600 --> 06:27:20,080
WHO ARE DESPERATE FOR PROGRESS

9936
06:27:20,080 --> 06:27:21,720
AND I HOPE YOU HEARD SOMETHING

9937
06:27:21,720 --> 06:27:23,560
TODAY THAT GIVES YOU HOPE. THE

9938
06:27:23,560 --> 06:27:25,240
MORE WE LEARN AND SHARE

9939
06:27:25,240 --> 06:27:26,840
TOGETHER, THE MORE WE WILL

9940
06:27:26,840 --> 06:27:28,520
REALIZE OUR HOPE OF BRINGING

9941
06:27:28,520 --> 06:27:30,520
MORE TREATMENTS TO ALL PEOPLE

9942
06:27:30,520 --> 06:27:32,960
MORE QUICKLY.  BEFORE WE CLOSE

9943
06:27:32,960 --> 06:27:34,600
OUT FOR THE DAY I WILL TURN THE

9944
06:27:34,600 --> 06:27:38,160
VIRTUAL STAGE OVER TO DR. CHEN

9945
06:27:38,160 --> 06:27:40,720
FOR CLOSING ANNOUNCEMENT AND

9946
06:27:40,720 --> 06:27:41,800
BEFORE I BID YOU FAIR WELL,

9947
06:27:41,800 --> 06:27:44,120
THANK YOU FOR JOINING US AND I

9948
06:27:44,120 --> 06:27:45,320
LOOK FORWARD THE NEXT YEAR.

9949
06:27:45,320 --> 06:27:50,720
ALICE OVER TO YOU.  

9950
06:27:50,720 --> 06:27:53,200
>> HI TONI, THANK YOU FOR THAT

9951
06:27:53,200 --> 06:27:56,920
EXCELLENT CLOSING AND SUMMARY OF

9952
06:27:56,920 --> 06:27:59,480
THE DAY. WE ARE SO HAPPY YOU ARE

9953
06:27:59,480 --> 06:28:02,000
ABLE TO KICK OFF AND CLOSE OUR

9954
06:28:02,000 --> 06:28:03,480
EVERY VIRTUAL EVENT. I WANT TO

9955
06:28:03,480 --> 06:28:07,880
SAY A QUICK HELLO TO EVERYBODY

9956
06:28:07,880 --> 06:28:09,440
AND PROMISED A BRIEF

9957
06:28:09,440 --> 06:28:10,680
ANNOUNCEMENT AT THE END OF THE

9958
06:28:10,680 --> 06:28:12,720
DAY ABOUT CONTEST WINNERS TODAY

9959
06:28:12,720 --> 06:28:14,040
AND I WANT TO APOLOGIZE IN

9960
06:28:14,040 --> 06:28:17,880
ADVANCE IF I MISPRONOUNCE YOUR

9961
06:28:17,880 --> 06:28:21,280
NAMES. TRYING TO GET CREATIVE

9962
06:28:21,280 --> 06:28:23,320
HERE. (INAUDIBLE) I'M NOT GOING

9963
06:28:23,320 --> 06:28:25,360
TO THROW ACTUAL CONFETTI. SEE IF

9964
06:28:25,360 --> 06:28:31,280
THIS IS A GOOD COMPROMISE.  ALL

9965
06:28:31,280 --> 06:28:34,400
RIGHT. AND PULL THIS OVER,

9966
06:28:34,400 --> 06:28:39,320
SORRY.  SO WE HAVE OUR TOP

9967
06:28:39,320 --> 06:28:42,280
WINNERS FOR OUR LEADER BOARD

9968
06:28:42,280 --> 06:28:47,320
CONTEST. THE NAMES ARE FRANK

9969
06:28:47,320 --> 06:28:57,120
RIVERA, (INAUDIBLE) JACKSON,

9970
06:28:57,120 --> 06:28:59,560
MONIQUE AND VIVIAN WHO YOU JUST

9971
06:28:59,560 --> 06:29:05,560
HEARD FROM SESSION 7. WE HAVE

9972
06:29:05,560 --> 06:29:08,960
ANNA SHUESTER AND LAUREL

9973
06:29:08,960 --> 06:29:10,800
RICHARDSON. THANK YOU AGAIN FOR

9974
06:29:10,800 --> 06:29:11,880
INTERACTING WITH US THROUGHOUT

9975
06:29:11,880 --> 06:29:13,880
THE DAY AND HOPING TO MAKE --

9976
06:29:13,880 --> 06:29:15,800
HELPING TO MAKE OUR SECOND

9977
06:29:15,800 --> 06:29:17,600
ATTEMPT AT VIRTUAL EVENT AS MUCH

9978
06:29:17,600 --> 06:29:23,040
FUN AS POSSIBLE. FEW CLOSING

9979
06:29:23,040 --> 06:29:25,200
REMARKS. AS A REMINDER AN

9980
06:29:25,200 --> 06:29:28,120
ARCHIVE WILL BE AVAILABLE IN A

9981
06:29:28,120 --> 06:29:30,520
FEW DAYS ACCESSED THROUGH THE

9982
06:29:30,520 --> 06:29:31,960
SAME VIDEOCAST LINK YOU USED

9983
06:29:31,960 --> 06:29:33,960
TODAY BUT DON'T WORRY IF YOU

9984
06:29:33,960 --> 06:29:35,640
LOSE IT WE WILL SEND OUT TO ALL

9985
06:29:35,640 --> 06:29:37,280
REGISTRANTS, IF YOU WANT TO GET

9986
06:29:37,280 --> 06:29:38,640
NOTIFIED, MAKE SURE YOU HAVE

9987
06:29:38,640 --> 06:29:42,040
REGISTERED FOR TODAY'S EVENT. 

9988
06:29:42,040 --> 06:29:43,320
THERE WERE MORE QUESTIONS

9989
06:29:43,320 --> 06:29:45,760
SUBMITTED AND WE CAN GET -- THAN

9990
06:29:45,760 --> 06:29:48,320
WE GET TO, AS REMINDER THE

9991
06:29:48,320 --> 06:29:50,080
WEBCAST WILL BE AVAILABLE FOR

9992
06:29:50,080 --> 06:29:57,440
THREE MONTHS UNTIL MAY SO WE

9993
06:29:57,440 --> 06:29:58,120
HAVE ENCOURAGED WONDERFUL

9994
06:29:58,120 --> 06:29:59,320
SPEAKERS TO CONTINUE ANSWERING

9995
06:29:59,320 --> 06:29:59,920
YOUR QUESTIONS. IF YOU HAVE

9996
06:29:59,920 --> 06:30:00,520
FEEDBACK, DON'T FORGET TO SHARE

9997
06:30:00,520 --> 06:30:02,000
YOUR THOUGHTS WITH US. IF YOU

9998
06:30:02,000 --> 06:30:08,800
HAVE ENJOYED TODAY'S EVENT WE

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06:30:08,800 --> 06:30:10,800
WANT TO GIVE SPECIAL

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06:30:10,800 --> 06:30:11,440
ACKNOWLEDGMENT TO ALICIA STEVENS

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06:30:11,440 --> 06:30:12,040
WHO PUT IN HARD WORK AND LONG

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06:30:12,040 --> 06:30:15,240
HOURS TO GET EVERYTHING READY IN

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06:30:15,240 --> 06:30:16,360
TIME. THANKS AGAIN TO OUR

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06:30:16,360 --> 06:30:20,520
EXCELLENT NIH EVENTS MANAGEMENT

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06:30:20,520 --> 06:30:21,120
TEAM AND FINALLY FOR THOSE IN

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06:30:21,120 --> 06:30:21,760
THE BETHESDA, MARYLAND AREA, WE

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06:30:21,760 --> 06:30:23,320
ARE LIGHTING UP NLM LISTER HILL

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06:30:23,320 --> 06:30:26,120
CENTER FOR RARE. YOU CAN SEE THE

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06:30:26,120 --> 06:30:28,680
RARE DISEASE LIGHTS OFF OF

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06:30:28,680 --> 06:30:30,080
ROCKVILLE PLACE AND WOOD MONT

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06:30:30,080 --> 06:30:33,120
AVENUE. SWING BY AND TICK A

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06:30:33,120 --> 06:30:33,720
PICTURE. -- TAKE A PICTURE.

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06:30:33,720 --> 06:30:34,480
THANK YOU FOR JOINING US AND WE

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06:30:34,480 --> 06:32:01,560
WILL SEE YOU NEXT YEAR.