WE HAVE SOMETHING VERY EXCITING FOR YOU. WE HAVE A SPECIAL WELCOME MESSAGE THAT WAS PUT TOGETHER FOR YOU FROM ORGANIZATIONS ALL OVER THE WORLD TO CELEBRATE RARE DISEASE DAY WITH US THIS YEAR. AND SO, WE ARE JUST GOING TO PLAY THIS VIDEO. ENJOY IT. [ MUSIC PLAYING ] ... >> HI, WE ARE HONG KONG ALIGNS FOR RARE DISEASES. MY NAME IS KP. I AM THE PRESIDENT OF THE ALIGNS. >> WE WISH YOU SUCCESS ON RARE DISEASE DAY CONFERENCE AT NIH. THANK YOU. >> HELLO! >> 200018 WAS AN EXCEPTIONALLY IMPORTANT YEAR FOR THE ENDIAN ORGANIZATION FOR RARE DISEASES. MY NAME IS STEVE AND I'M THE CHAIRMAN OF THAT ORGANIZATION. >> GOOD MORNING. IT'S AN IMPORTANT DAY TODAY. IT'S THE RARE DISEASE DAY. THANK YOU FOR ORGANIZING THIS EVENT AT THE NIH. THANK YOU FOR YOUR INVITATION. I REGRET I CANNOT BE WITH YOU. I'M OBLIGED TO BE IN GENEVA. I'M THE CHIEF EXECUTIVE ORDER OF RARE DISEASE DAY. >> WE WOULD LIKE TO SUPPORT RARE DISEASE DAY 2,000 19 AND ON THE 58 OF FEBRUARY, WE WILL BE CELEBRATING THIS DAY TO MARK THE DAY WHERE WE TALK IN ONE VOICE. LET'S ALL REACH OUT TO THESE BEAUTIFUL, SPECIAL FLOWERS. [ MUSIC PLAYING ] >> RELATIONSHIP RARE DISEASE DAY DAY. >> HI, MY NAME IS CHRISTINA. >> HI, I'M ROSALIN AND I. >> TOGETHER WE PRESENT RARE DISEASE KENYA. >> SOUTH AFRICA. WE WANT TO WISH EVERYONE A HAPPY RARE DISEASE DAY. [ SPEAKING NATIVE LANGUAGE ] ... >> HELLO FROM THE NATIONAL ORGANIZATION FROM RARE DISORDERS BASED OUT OF THE UNITED STATES. MY NAME IS DEBI AND I'M THE DIRECTOR OF MEMBERSHIP HERE. AND I WOULD LOVE TO INTRODUCE YOU TO OUR WASHINGTON, D.C. D.C.-BASED OFFICE. >> HELLO TO NIH AND ALL OF YOU RARE ADVOCATES. >> I'M FROM CANADA. AND HAPPY TO BE HERE WITH MY TEAM FROM THE CANADIAN ORGANIZATION FOR RARE DISORDERS WITH OUR STAFF AND ALSO WITH SOME VISITORS. [ APPLAUSE ] >> HOPEFULLY YOU ENJOYED THAT AS MUCH AS WE DID. WE WANT TO BE REMINDED THAT IS AN INTERNATIONAL RARE DISEASE DAY TODAY AND WE WANT TO SEND THAT SPECIAL WELCOME FROM THE LEADERS FROM ALL OVER THE WORLD FOR YOU GUYS. NEXT, WE'LL GET STARTED WITH OUR FIRST SPEAKER. DR. AUSTIN. DR. AUSTIN IS THE DIRECTOR OF THE NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES HERE AT NIH. NCATS'S MISSION IS TO ENHANCE DEVELOPMENT, TESTING AND IMPLEMENTATION OF DIAGNOSTICS AND THERAPEUTICS ACROSS A WIDE RANGE OF HUMAN DISEASES AND CONDITIONS. THE CENTER COLLABORATES WITH OTHER GOVERNMENT AGENCIES, INDUSTRY, ACADEMIA AND NON-PROFIT COMMUNITY. BEFORE JOINING NIH IN 2002, DR. AUSTIN DIRECTED RESEARCH IN JUST A MOMENT DEVELOPMENT PROGRAMS AT MERCK WITH A FOCUS ON SCHIZOPHRENIA. FROM 2016-2018, HE SERVED AS CHAIR OF THE INTERNATIONAL RARE DISEASE RESEARCH CONSORTIUM. HE EARNED HIS MD FROM HARVARD MEDICAL SCHOOL AND COMPLETED A CLINICAL TRAINING AT MASSACHUSETTS GENERAL HELP AND A RESEARCH FELLOWSHIP AT HARVARD. PLEASE JOIN ME IN WELCOMING DR. AUSTIN. [ APPLAUSE ] >> DR. AUSTIN: SO I HAVE BEEN TOLD BY ALICE THAT WE ARE ON A STRICT SCHEDULE HERE AND AS YOU WILL DISCOVER, DON'T MESS WITH ALICE. SO I'M NOT GOING TO TAKE MUCH TIME BECAUSE I GET A CHANCE TO TALK TO YOU AT THE END. BUT I WANT TO SINCERELY WELCOME ALL OF YOU HERE. THIS IS A REALLY, REALLY BIG DAY FOR US AT NCATS, AT THE CLINICAL CENTER, MY COLLEAGUE JIM GILMAN WILL TALK TO YOU NEXT AND ALL THE INSTITUTES ACROSS NIH ALL OF WHOM WORK ON RARE DISEASES IN ONE WAY OR ANOTHER. AND THIS DAY IS SPECIAL TO US, NOT ONLY BECAUSE WE GET TO RECOGNIZE THE GREAT WORK THAT ALL OF YOU ARE DOING IN RARE DISEASE IN ONE WAY OR THE OTHER, BUT ALSO GET TO, ESPECIALLY CELEBRATE THE REALLY SPECIAL THING ABOUT THE RARE DISEASE COMMUNITY, WHICH YOU SAW ON THIS VIDEO, THAT THERE IS A REMARKABLE UNINIMITY OF PURPOSE IN THIS COMMUNITY AMONG PATIENTS AND DOCTORS AND RESEARCHERS AND REGULATORS TO REALLY MAKE A DIFFERENCE IN SPEEDING UP THE DIAGNOSIS AND EFFECTIVE TREATMENT OF RARE DISEASES. AND THAT MISSION IS THE SAME WHETHER, AS YOU HAVE SEEN, WHETHER ONE IS IN THE U.S. OR EUROPE OR IRAN OR JAPAN. ONE OF THE THINGS THAT WAS WONDERFUL FOR ME HAVING BEEN CHAIR OF THE INTERNATIONAL RARE DISEASE CONSORTIUM FOR THE LAST THREE YEARS, I JUST STEPPED DOWN IN JANUARY, I GOT TO KNOW ALL THOSE PEOPLE ON THE VIDEO. THEY MAY SPEAK DIFFERENT LANGUAGES, DO SPEAK DIFFERENT LANGUAGES, BUT THEY SPEAK RARE DISEASE, AND THOSE OF YOU WHO KNOW ME, KNOW I'M ALSO A MUSICIAN. AND MUSIC IS THE OTHER TRULY INTERNATIONAL LANGUAGE THAT TRANSCENDS BOUNDARIES AND RARE DISEASE DOES AS WELL. AND IT'S ONE OF THE OTHER WONDERFUL THINGS THAT ABOUT COMMUNITY. AS WE GET STARTED, I WANT TO GIVE TWO THANKS, REALLY, TO ANN PARISSER THE DIRECTOR OF OUR OFFICE OF RARE DISEASES RESEARCH WHO ORCHESTRATED THIS WHOLE DAY FROM ABOVE. AND ALICE CHEN, WHO YOU JUST MET, WHO ORCHESTRATED THIS WHOLE DAY FROM THE ENGINE ROOM. AND SO I REALLY WANT TO THANK ALICE FOR ALL SHE HAS DONE, INCLUDING BRINGING US INTO THE 21ST CENTURY BY HAVING AN APP. I UNDERSTAND UNLESS YOU HAVE AN APP, YOU DON'T ACTUALLY HAVE A MEETING THESE DAYS. SO, I WANT TO THANK HER FOR THAT. IN CASE YOU'RE LOOKING FOR THE BATHROOMS, I ALWAYS -- I'M ALWAYS THE BATHROOM DESIGNATION PERSON. THEY ARE OUT TO YOUR LEFT AND RIGHT AND THERE ARE ALSO SOME UPSTAIRS AND THE COFFEE STATIONS ARE UPSTAIRS, TWO DIFFERENT PLACES TO GET COFFEE. THE THING THAT YOU WILL HEAR THROUGH THE DAY, WHICH NCATS IS OFFICIALLY KICKING OFF TODAY, IS A NEW MULTI-FACETTED INITIATIVE THAT WE ARE CALLING RARE DISEASES ARE NOT RARE. THIS BRINGS TO THE FORE, THE SCIENTIFIC TRUTH, MEDICAL TRUTH, AND POPULATION HEALTH TRUTH, THAT THOUGH, INDIVIDUALLY OF COURSE, RARE DISEASES ARE BY DEFINITIONS RARE. THEY ACCOUNT FOR 8% OF THE POPULATION, WHICH IS THE SAME PREVALENCE AS TYPE II DIABETES, AND ACTUALLY ARE A MUCH GREATER CAUSE OF MORBIDITY, MORTALITY, LOSS OF QUALITY AND QUANTITY OF LIFE AFFECTING YOUNGER PEOPLE, USUALLY CHILDREN, AND THE ECONOMIC IMPACT BOTH DIRECT AND INDIRECT, HEALTH CARE COSTS AND COSTS TO SOCIETY FROM LOST PRODUCTIVITY AND LOST PRODUCTIVITY FROM CAREGIVERS IS ABSOLUTELY ENORMOUS. BUT MUCH OF THAT IS INVISIBLE FOR REASONS THAT YOU ALL KNOW AND WE HAVE COME TO REALLY UNDERSTAND THE DEPTH OF OVER THE LAST YEAR, AS WE DUG INTO THIS PROBLEM. AND WE DECIDED THAT THE ONLY WAY TO SOLVE THIS PROBLEM IS TO REDEFINE, IN THE PUBLIC'S MIND, THE IMPORTANCE OF RARE DISEASES AND THEIR IMPACT ON HEALTH AND THE ECONOMY AND HEALTH CARE COSTS AND PEOPLE. AND SO YOU'RE GOING TO BE SEEING OR HEARING MORE ABOUT THAT. THE FIRST SALVO IN THIS IS THE CHALLENGE THAT YOU'LL BE SEEING THE WINNERS OF IN A FEW MINUTES; BUT THERE ARE ALSO SCIENTIFIC ASPECTS OF THIS, WHICH YOU'LL HEAR THROUGHOUT THE COURSE OF THE DAY. SO, THIS IS A BIG DAY FOR US FOR A LOT OF REASONS. IN ORDER FOR THIS NEW INITIATIVE, NEW DIRECTION THAT NCATS IS TAKING, TOGETHER WITH OUR NIH COLLEAGUES, WE NEED YOUR SUPPORT. WE CANNOT DO THIS ALONE. IT IS JUST A VERY EVIDENT FACT TO THOSE OF US HERE AT THE NIH. WE CAN DO REMARKABLE THINGS HERE BUT WE CAN DO NOTHING WITHOUT YOU. SO, PLEASE BE OUR PARTNERS IN ALL OF THIS. WE HAVE TRIED TO DESIGN THE DAY TO BE UNDERSTANDABLE TO THOSE OF YOU, MOST OF YOU, WHO DON'T HAVE A DEEP SCIENCE BACKGROUND BUT YOU HAVE AN ABIDING INTEREST AND GENERAL KNOWLEDGE OF THE FIELD OF RARE DISEASES, BUT TO TRY TO GIVE YOU SOME OF THE MAGIC, AS WELL AS THE CHALLENGES, THE OPPORTUNITIES AND THE CHALLENGES OF THE RARE DISEASE FIELD AT THE MOMENT. SO WELCOME, AGAIN. NOW I WANT TO TURN THE PODIUM OVER TO JIM GILMAN. JIM IS THE CHIEF EXECUTIVE OFFICER AT THE CLINICAL CENTER, THE FIRST YEAR WE HAVEN'T HAD THE -- RARE DISEASE DAY AT THE CLINICAL CENTER AT MASURE AUDITORIUM YUM, BECAUSE WE HAVE NOW ABOUT 900 PEOPLE REGISTERED FOR TODAY AND WE COULDN'T FIT ALL THOSE PEOPLE AT THE CLINICAL CENTER, SO WE ARE OVER HERE TODAY. BUT, CLINICAL CENTER HAS BEEN OUR PARTNER IN RARE DISEASE DAY FROM THE BEGINNING. AS JIM WILL TELL YOU, I'M SURE, ENORMOUS AMOUNT OF WORK THAT GOES ON NEXT DOOR AT THE CLINICAL CENTER IS IN RARE DISEASES; AND IF YOU HAVEN'T BEEN OVER THERE FOR A TOUR, THOSE ARE AVAILABLE AROUND LUNCH TIME. SO I'D ENCOURAGE YOU TO GO DO THAT. SO I WILL GET TO TALK TO YOU LATER, BUT WELCOME AGAIN. JIM? [ APPLAUSE ] >> THANK YOU, CHRIS. WE ARE IN THE CLINICAL CENTER, WE ARE VERY HAPPY TO BE A PARTNER, AGAIN, IN RARE DISEASE DAY. AND WE ARE A LITTLE SORRY THAT YOU AREN'T ALL IN THE CLINICAL CENTER AND GETTING TO VISIT WITH US. WE ARE VERY PROUD OF THE CLINICAL CENTER AND THE WORK WE DO OVER THERE. I REALLY THOUGHT WE SHOULD HAVE HAD A GRADUATION CEREMONY. SOMEBODY SHOULD BE PLAYING POMP AND CIRCUMSTANCE, OR SOMETHING LIKE THAT. BECAUSE IF THERE IS A GOOD REASON FOR YOU NOT TO BE THERE, IT'S BECAUSE YOU HAVE OUTGROWN THE LARGEST AUDITORIUM WE HAVE IN THE CLINICAL CENTER AND I'M VERY, VERY HAPPY THAT HAS HAPPENED. THIS IS, THE 12th INTERNATIONAL RARE DISEASE DAY. THE 9th NIH CELEBRATION, AND IT'S MY THIRD EVENT AS CEO. NOW, IN THOSE FIRST TWO YEARS, I LEARNED A COUPLE OF THINGS. FIRST OF ALL, IF YOU'RE GOING TO HANG WITH THE NCATS CROWD AND ANYBODY TO NOTICE YOU, YOU BETTER BRING YOUR A GAME. THIS IS MY A GAME. [ APPLAUSE ] SO, I DON'T HAVE THE PROFESSIONAL SINGING VOICE. AND I DON'T HAVE THE HAIR. BUT I'VE GOT THE SUIT. AND IF WE GO MILITARY UNIFORMS NEXT YEAR, I HAVE GOT IT, HANDS DOWN. WE HAVE HAD A LOT OF CHANGES IN THE CLINICAL CENTER OVER THE COURSE OF LAST YEAR. WE HAVE A NEW CHIEF OPERATING OFFICER. WE HAVE A NEW CHIEF OF INTERNAL MEDICINE. A NEW CHIEF OF RADIOLOGY AND IMAGING SCIENCES AND A LOT OF RARE DISEASE PROTOCOLS GO THROUGH RADIOLOGY. THERE IS AN AWFUL LOT OF IMAGING. WE ALSO HAVE A NEW CHIEF OF DEPARTMENT OF LABORATORY MEDICINE. THE NIH CLINICAL CENTER IS SHORT OF AT A CRITICAL POINT -- WE HAD A NUMBER OF PEOPLE WHO HAD BEEN THERE FOR YEARS AND YEARS AND YEARS AND HELPED MAKE THE CLINICAL CENTER THE GREAT PLACE THAT IT IS. AND MANY OF THOSE PEOPLE ARE NOW AT A POINT WHERE THEY ARE STEPPING DOWN OR THEY ARE CUTTING BACK ON THEIR ACTIVITIES. THEY ARE RETIRING OR MOVING ON TO OTHER THINGS, AND WE ARE FINDING -- WE SPEND A LOT OF TIME TRYING TO FIND THE NEXT GROUP OF PEOPLE TO STEP UP AND TO CONTINUE THE ASPIRATION TO EXCELLENCE AND GREAT THANS WE THINK IS SUPPOSED TO CHARACTERIZE OUR CLINICAL CENTER. WE ALSO HAVE A PATIENT ADVISORY GROUP, AND WE CELEBRATED THE 20TH ANNIVERSARY OF THE PATIENT ADVISORY GROUP. AND A FEW OF THESE PEOPLE HAVE BEEN PART OF THE PATIENT ADVISORY GROUP ALMOST SINCE IT WAS FOUNDED. AND NOT PICTURED IN THIS GROUP, BUT A MEMBER OF THE PATIENT ADVISORY GROUP WHO IS FAMILIAR TO SOME OF YOU, A YOUNG WOMAN NAMED CHRISTINA HARTMAN. I DON'T KNOW IF SHE WAS HERE OR NOT. SHE SAID SHE WOULD SEE ME ON RARE DISEASE DAY. BUT CHRISTINA REPRESENTS THE RARE DISEASE COMMUNITY AND THEIR FAMILIES VERY, VERY WELL. SHE IS NEW TO THE GROUP BUT I THINK WILL BE A GREAT ADDITION. THIS IS WHAT WE DO AT THE NIH CLINICAL CENTER. SO WE HAVE PROTOCOLS INVOLVING 552 RARE DISEASES. AND THAT IS ABOUT HALF -- A LITTLE OVER HALF OF OUR PROTOCOL PROTOCOLS INVOLVE RARE DISEASES. NOW SOME OF THOSE ARE NATURAL HISTORY STUDIES. NOW, IF YOU'RE A CYNIC, THEN YOU KNOW WHAT A NATURAL HISTORY STUDY IS. IT'S A STUDY -- IT'S A PROTOCOL WHERE YOU ADMIRE THE DISEASE. OKAY? AND ADMIRING THE DECEASED IS SORT OF IMPORTANT TO GETTING TO KNOW SOMETHING ABOUT IT, BUT IT'S NOT ENOUGH. AND SO WHAT I WOULD LIKE FOR YOU TO TAKE HOME FROM THIS SLIDE IS THAT THERE IS ALMOST 404thY OF THESE TRIALS WHERE WE ARE TRYING TO TREAT THE DISEASE -- SO 438 CLINICAL TRIALS. THAT'S ABOUT 40% OF OUR PRINCIPAL INVESTIGATORS ARE INVOLVED IN RARE DISEASE RESEARCH OF SOME KIND AND YOU CAN SEE THAT ABOUT 57% OF ALL THE CLINICAL CENTER PATIENTS ARE ENROLLED IN A RARE DISEASE PROTOCOL. AND NOT ALL OF THOSE HAVE THE RARE DISEASE, BUT THAT'S THE VAST MAJORITY OF THEM THAT DO. AND YOU CAN SEE IN THE GRAPH BELOW, THE INSTITUTES. THAT'S A FAIRLY BROAD -- THAT'S NOT QUITE EVERYBODY THAT DOES WORK IN THE CLINICAL CENTER, BUT THAT'S JUST ABOUT EVERYBODY. THERE IS A DISPLAY AT NOON THAT I HOPE SOME OF YOU WILL VISIT. IT'S PUT THERE BY THE OFFICE OF PATIENT RECRUITMENT. SOME OF THE YOU MAY HAVE TALKED TO THE OFFICE OF PATIENT RECRUITMENT. SOME OF YOU MAY HAVE HAD YOUR CONNECTION TO THE NIH BEGIN WITH THE OFFICE OF PATIENT RECRUITMENT. THESE ARE PEOPLE THAT YOU TALK TO AND YOU HARDLY EVER SEE. THEY ARE IN ONE OF THE SMALLER OUTBUILDINGS ON THIS CAMPUS, AND THEIR JOB IS TO FIELD REQUEST FROM PATIENTS AND FAMILY MEMBERS AND PROVIDERS AND ANYBODY ELSE WHO IS INTERESTED, ADVOCACY GROUPS. IF YOU WANT TO KNOW WHETHER WE HAVE A PROTOCOL AT THE NIH THAT INVOLVES THE DISEASE THAT YOU HAVE A SPECIAL ATTACHMENT TO, THEN THEY CAN HELP YOU FIGURE THAT OUT. THEY HAVE A WEBSITE CALLED, SEARCH THE STUDIES. THEY WILL KEEP PATIENTS AND FAMILY MEMBERS ON THE LINE, HOWEVER LONG IT TAKES TO WORK THROUGH THE SEARCH THE STUDIES WEBSITE, AND SEE IF WE HAVE SOMETHING FOR THAT PATIENT. YOU CAN SEE THE NUMBER OF TOTAL CALLS THAT ARE RECEIVED. SOMETIMES PEOPLE IF THEY HAVE TO WAIT FOR A MINUTE, THEY HANG UP, BUT TOTAL CALLS HANDLED, THERE IS VERY LOW CALL ABANDONMENT RATE. WE ALSO FIELD REQUESTS BY E-MAIL. SOME PEOPLE WOULD MUCH RATHER DO IT BY E-MAIL. AND THE REFERRALS MEANS THAT WE TALK TO SOMEBODY AND THE PATIENT RECRUITMENT OFFICE AND WE THINK YOU MIGHT QUALIFY FOR ONE OF OUR PROTOCOLS, THEN WE WILL TURN YOU OVER TO A STUDY COORDINATOR; TYPICALLY A NURSE WHO KNOWS IN DETAIL THE INCLUSION CRITERIA, THE EXCLUSION CRITERIA, FOR THE PROTOCOL AND THEN DECIDE WHETHER THIS COULD GO ON TO SOMETHING ELSE. AND YOU CAN SEE THAT ROUGHLY 1-4 OF THE PATIENTS THAT GO ON TO A REFERRAL WIND UP BEING ENROLLED IN ONE OF OUR STUDIES. AND JUST IN TERMS OF THESE NUMBERS, THIS IS A VERY SIGNIFICANT SOURCE OF PATIENTS FOR OUR CLINICAL ACTIVITY. AND THE ON LINE BUSINESS AND THE PHONE CALL BUSINESS -- PATIENTS FINDING US HAS BECOME AN INCREASINGLY IMPORTANT PART OF OUR WORK AND THINK, PARTICULARLY IN THE RARE DISEASE COMMUNITY, THESE KINDS OF CONNECTIONS ARE REALLY IMPORTANT. YOU TOUR THE CLINICAL CENTER. WE WOULD VERY MUCH WELCOME YOU. IT'S A LITTLE BIT OF A HIKE BUT IT'S NOT THAT FAR. I DID IT THIS MORNING. I'LL GO BACK THE OTHER WAY. IT'S ACTUALLY DOWNHILL AS YOU LEAVE HERE. COMING BACK WILL BE THE HARD PART. THERE IS A PATIENT RECRUITMENT EXHIBIT IN THE POSTERS EXHIBIT AREA AND THEN IN SESSION 4, YOU'RE GOING TO HEAR FROM MANDY WHO IS THE PROGRAM COORDINATOR IN THE CLINICAL RESEARCH VOLUNTEER PROGRAM, NIH CLINICAL CENTER OFFICE OF PATIENT RECRUITMENT. SO I WOULD ENCOURAGE YOU TO VISIT OR TALK TO MANDY, LISTEN TO HER PRESENTATION. I'D ENCOURAGE YOU TO SEE VISIT. AND HAPPY RARE DISEASE DAY AND AGAIN, IT'S OUR HONOR TO BE A PARTNER IN THIS EXERCISE. [ APPLAUSE ] >> THANK YOU DOCTORS AUSTIN AND DR. GILMAN. NEXT I WILL LIKE TO INTRODUCE DR. ANN PARISSER. THE DIRECTOR OF THE OFFICE OF RARE DISEASES RESEARCH, OR ORDR AT NIH'S NCATS. ORDV DEDICATED TO ADVANCING RARE DISEASES RESEARCH TO BENEFIT PATIENTS THROUGH OUR NUMEROUS RARE DISEASES PROGRAMS. DR. PARISSER CAME TO NCATS IN 2017 AND BEFORE THIS, SHE WORKED FOR 16 YEARS AT THE U.S. FOOD AND DRUG ADMINISTRATION WHERE SHE FOUNDED THE RARE DISEASES PROGRAM AT FDA IN 2010. DR. PARISSER ALSO SERVED AS MEDICAL OFFICER AND TEAM LEADER FOR RARE DISEASES, DRUG AND BIOLOGICS PRODUCT DEVELOPMENT, REVIEW AND REGULATION. SHE HAS ALMOST 20 YEARS OF EXPERIENCE IN RARE DISEASES RESEARCH. PLEASE JOIN ME IN WELCOMING HER TO THE STAGE. [ APPLAUSE ] >> THANK YOU, ALICE, AND WELCOME EVERYBODY. WE ARE SO GLAD THAT YOU'RE HERE. SO, I'M JUST GOING TO SPEND A FEW MINUTES. I WILL TRY TO BE BRIEF AND TRY TO STAY ON TIME TALKING ABOUT SOME OF THE PROGRAMS WE HAVE AT THE OFFICE OF RARE DISEASES RESEARCH. SO THIS IS JUST A BRIEF UPDATE. I WON'T GO THROUGH EVERYTHING. SO HERE IS THE ORDR TEAM. EVERYBODY IS HERE TODAY. WE HOPE THAT WILL YOU COME FIND US, INTRODUCE YOURSELF AND UP IN THE TOP RIGHT-HAND CORNER IS MIRA SHAW, OUR NEWEST MEMBER. PLEASE COME INTRODUCE YOURSELF. WE WOULD LOVE TO TALK TO YOU. OUR MISSION IN THE OFFICE OF RARE DISEASES RESEARCH, EVERYTHING WE DO, WE ARE TRYING TO ACCELERATE RARE DISEASES RESEARCH TO BENEFIT PATIENTS. WE DO THIS AND FACILITATE COORDINATION, MULTIPLE STAKEHOLDERS IN THE RARE DISEASE COMMUNITY INCLUDING THE SCIENTISTS, CLINICIANS, PATIENTS, PATIENT GROUPS AND ANYONE WITH AN INTEREST IN RARE DISEASES. THERE ARE 7000 RARE DISEASES WE ARE INTERESTED IN ALL OF THEM AND ALL 30 MILLION PATIENTS HERE IN THE U.S. THIS IS A LIST OF OUR PROGRAMS. THEY JUST VERY GENERALLY SPLIT INTO KNOWLEDGE AND DATA ON ONE SIDE AND RESEARCH AND COLLABORATION ON THE OTHER. AND I'M NOT GOING TO MENTION ALL OF THEM. ALTHOUGH MANY OF THESE PROGRAMS WILL BE HIGHLIGHTED DURING THE DAY. LET ME JUST TOUCH ON THREE OF PARTICULAR INTEREST TO YOU. SO THE FIRST ONE I'M GOING TO START WITH IS THE GUARD CLUSTER. SO WHAT IS GUARD? GUARD STANDS FOR THE GENETIC AND RARE DISEASES INFORMATION CENTER. IT'S AN ON LINE INFORMATION RESOURCE. IT'S BEEN AROUND SINCE 2002. AND WE CURRENTLY HAVE MORE THAN 6500 RARE DISEASE INFORMATION PAGES UP ON THE WEBSITE. LAST MONTH WE HAD ABOUT 1.5 MILLION USERS. I'M HAPPY TO SAY THIS IS INCREASING AND WE THINK IT IS BECAUSE OF ALL OF THE ADVANCES AND AWARENESS ABOUT RARE DISEASES AND THE ADVANCES IN SCIENCE. AND WE ALSO HAVE A SERVICE FOR INDIVIDUAL INQUIRIES, WHICH I'LL TALK ABOUT A LITTLE BIT MORE IN A MINUTE. AND WE GET ABOUT 1000 INQUIRIES A MONTH. HERE IS THE WEBSITE HERE. THE EASIEST WAY TO GET TO US IS SEARCH THE TERM NIH GUARD. I TRIED IT YESTERDAY, AND IT WORKED. SO IF YOU TYPE IN, NIH GUARD, AND YOU COME TO THE WEB PAGE, THIS IS THE LANDING PAGE THAT YOU'LL SEE. YOU'LL NOTICE THERE IS A PHONE NUMBER AT THE TOP. YOU CAN CALL US. YOU CAN SUBMIT INQUIRIES ON LINE, AND THERE IS A BOX IN THE MIDDLE WHERE YOU CAN SEARCH FOR A SPECIFIC DISEASE OR FIND OTHER RESOURCES, PATIENT GUIDES, INFORMATION ON CERTAIN PROGRAMS. MORE COMMONLY, PEOPLE GET TO US, THEY WILL GOOGLE OR BROWSE THEIR DISEASE NAME THAT THEY ARE TRYING TO FIND MORE INFORMATION ON. SO THIS IS A PAGE ON A SYNDROME. MOST OF THE PAGES LOOK VERY SIMILAR LIKE THIS. THERE IS A SUMMARY, SYMPTOMS, CAUSES, INFORMATION AND HOW TO GET IN TOUCH WITH RESOURCES AS WELL. SO PLEASE TAKE A VISIT TO GARD AND JUST CHECK IT OUT. THERE ARE A LOT OF RESOURCES THERE FOR YOU. A COUSIN OF GARD, PART OF THE CLUSTER, IS SOMETHING NEW. THIS IS THE NCATS TOOLKIT FOR PATIENT-FOLK UD DRUG DEVELOPMENT. WE CALL IT THE TOOLKIT -- PATIENT-FOCUSED DRUG DEVELOPMENT. IT IS RELATIVELY NEW. IT'S A LIVING WEBSITE. WE CONTINUE TO PUT NEW MATERIALS THERE AND UPDATE IT. THIS IS ALSO AN ON LINE RESOURCES THAT INCLUDES COMPREHENSIVE TOOLS TO HELP YOU ESTABLISH YOUR RESEARCH PROGRAM AND ALSO TO FIND SPECIFIC TOOLS FOR DRUG DEVELOPMENT AND OTHER THINGS WITHIN A RESEARCH PROGRAM. SO IT CONTAINS A LOT OF LINKS TO ESSENTIAL TOOLS ACROSS THE DRUG DEVELOPMENT AND RESEARCH SPECTRUM AND THESE ARE LINKS OUT MAINLY TO PATIENT ORGANIZATION GROUPS WHO HAVE ALREADY WORKED IN THIS SPACE AND HAVE ADVICE THEY'D LIKE TO SHARE WITH YOU. SO OUR GOAL HERE IS TO ENGAGE PATIENTS AS ESSENTIAL PARTNERS IN RESEARCH AND DEVELOPMENT. SO AGAIN, I HOPE YOU WILL TAKE A VISIT THERE. THIS IS THE LANDING PAGE FOR TOOLKIT, AND IT'S ORGANIZED INTO FOUR TOPIC AREAS. DISCOVERY, PREPARING FOR CLINICAL TRIALS, CLINICAL TRIALS AND FDA REVIEW AND AFTER FDA APPROVAL, THERE IS ALSO A GETTING STARTED TAB. AGAIN PUT THE LINK AT THE BOTTOM. AND ALSO SEARCH UNDER NIH GARD TOOLKIT. IF YOU SEARCH NIH TOOLKIT YOU WILL GET CRAZY THINGS. SO PUT THE GARD IN THERE. IF YOU CLICK ON THE GETTING STARTED TAB, IT WILL BRING YOU TO THIS PAGE WITH A NUMBER OF RESOURCE ARE FOR LEARNING ABOUT THERAPY DEVELOPMENT AND BUILDING RELATIONSHIPS, WHICH ARE CRITICAL FIRST PIECES. LET'S TAKE A LOOK AT THE, HOW DO I BEGIN? THERE ARE A NUMBER OF THINGS HERE, MOSTLY HOW TO ORGANIZE, FORM A NON-PROFIT AND LET'S TAKE A CLOSER LOOK AT THAT. THIS ONE IN PARTICULAR HAPPENS TO TAKE YOU TO ANOTHER RESOURCE PAGE. THESE ARE ALL THINGS THAT PEOPLE HAVE DONE BEFORE. IT WILL SAVE YOU A LOT OF TIME AND ENERGY. TAKE A LOOK IF YOU'RE LOOKING FOR ANYTHING TO FURTHER YOUR RESEARCH PROGRAM. AND FINALLY, THE OTHER GARD SIBLING IS THE RARE DISEASES REGISTRY PROGRAM, WHICH IS ABBREVIATED RADAR. HERE IN THE GOVERNMENT, EVERYTHING HAS TO HAVE AN ACRONYM. AND WHAT THIS DOES IS, WE ARE AIMING TO DEFINE BEST PRACTICES FOR BUILDING PATIENT REGISTRIES. SO WE ARE TRYING TO HELP YOU GET STARTED AND GIVE YOU ADVICE AND HOW TO ADOPT STANDARDS TO SUPPORT HIGH-QUALITY REGISTRIES. AND ALL OF THIS NEW CONTENT, RADAR HAS BEEN UP FOR A LITTLE WHILE IN AN ABBREVIATED STATE, BUT WE LAUNCHED NEW CONTENT YESTERDAY. SO, THIS IS WHAT IT LOOKS LIKE IF YOU COME TO THE PAGE. AND AGAIN, THERE IS A LINK AT THE BOTTOM. IF YOU SEARCH, NIH RADAR, IT WILL TAKE YOU RIGHT THERE. AND VERY IMPORTANTLY, WE ARE ASKING ALL OF YOU, CAN YOU PLEASE HELP US IMPROVE OUR RESOURCES. SO IN ROOM C, I THINK -- D? SORRY, ROOM D. THEY EVEN HAVE IT UP HERE. WE HAVE GARD STAFF THERE. THEY HAVE LAPTOPS AND TOUCH PADS AND WE WANT YOU TO COME BY AND TRY THESE OUT. THERE IS 15 MINUTE USABILITY STUDY FOR EACH OF THESE TOOLS, FOR GARD, RADAR AND TOOLKIT AND WE WOULD BE VERY INTERESTED IN YOUR FEED BACK. SO PLEASE TRY TO TAKE A CIRCLE AROUND THERE AT SOME POINT DURING THE DAY. SO NOW I'M GOING TO MOVE ON TO THE NCATS SCIENTIFIC CONFERENCES PROGRAM. THESE ARE CONFERENCE GRANTS, ALSO KNOWN AS R13s. AND THIS IS WHERE NCATS PROVIDES SMALL GRANTS FOR CONFERENCES, SCIENTIFIC MEETINGS AND WORKSHOPS. THESE ARE USUALLY CO-FUNDS WITH OTHER ORGANIZATIONS SUCH AS OTHER NIH INSTITUTES. SO, OUR AREAS OF INTEREST AT NCATS ARE TRANSLATIONAL SCIENCES, AS THE NAME IMPLIES THINGS WITH INNOVATION OR CROSSCUTTING SCIENCE, BUT ALSO RARE DISEASES. AND WE OFTEN CO-FUND WITH OTHER INSTITUTES OR PARTNERS. I LISTED JUST A FEW OF THEM FROM LAST YEAR. SO BIG DIVERSITY. ALL KINDS OF THINGS GOING ON. THE ONES IN BOLD TYPE ARE THE ONES WHERE NCATS WAS THE PRIMARY OR THE LEADER ON THIS ONE. AND THE OTHER ONES WE CO-FUNDED WITH OTHER ORGANIZATIONS. SO IF YOU WOULD LIKE TO LEARN MORE ABOUT THE PROGRAM, YOU'RE PLANNING A MEETING, YOU NEED A LOT OF LEAD TIME SO CHECK THE DATES CAREFULLY. HERE IS THE CONFERENCE PAGE. AGAIN, SEARCH UNDER NCATS CONFERENCE GRANTS. BUT ALMOST ALL THE INSTITUTES AT NIH HAVE THEM SO YOU CAN ALSO SEARCH UNDER NIH CONFERENCE GRANTS. AND THESE ARE THINGS THAT PATIENT GROUPS HAVE TAKEN ADVANTAGE OF. SO AGAIN, I URGE YOU TO TAKE A LOOK HERE IF YOU'RE PLANNING A MEETING OR TRYING TO ORGANIZE. AND FINALLY, I'D JUST LIKE TO TOUCH ON OUR NEWEST INTEREST. THIS IS GT. GT STANDS FOR GENE THERAPY AS KNOW A HOT TOPIC RIGHT NOW. AND GO BACK TO LAST SUMMER, 2018. WE HELD A MEETING THAT WE CO-SPONSORED WITH FDA, CENTER FOR BIOLOGICS, CALLED THE GROWING PROMISE OF GENE THERAPY. IT WAS A TWO-DAY MEETING. WE JUST GOT A REALLY REAL OUTPOURING OF INTEREST. SO, WE WILL BE HOLDING OTHER EVENTS SO WATCH THIS SPACE. ONE I'D LIKE TO JUST VERY BRIEFLY MENTION IS A CONCEPT, CURRENTLY A CONCEPT, THAT WAS DEVELOPED BY PJ BROOKS IN THE OFFICE OF ORDR WHO IS SITTING HERE WITH THE ZEBRA VEST. PLATFORM VECTOR GENE THERAPY PROGRAM, SO AGAIN ANOTHER ACRONYM, AND WE ARE TRYING TO PAVE THE WAY FOR GENE THERAPY AND TRYING TO FORM A PLATFORM. A PLATFORM IS DEFINED, USED MOSTLY IN CANCER SPACE AND WE ARE BORROWING FROM THEM BUT AS DURABLE INFRASTRUCTURE THAT EXIST THAT YOU CAN SUPPORT TESTING FOR MULTIPLE GENES THERAPIES AND MULTIPLE DISEASES. SO, AGAIN, WE HAVE 7000 DISEASES. WE ARE TRYING TO ACCELERATE. CAN WE LOOK AT PRODUCTS AND DISEASES COLLECTIVELY OR AS PERMANENT J SAID, TO TRY TO CLUSTER THESE TO -- PJ SAID, TRYING TO MOVE FORWARD MORE RAPIDLY. SO THIS IS A SCHEMATIC OF A PLATFORM. START AT THE BOTTOM AND YOU MOVE YOUR WAY UP SO IT'S, CAN WE COLLECTIVELY MANUFACTURE? CAN WE BORROW PROCESSES? CAN WE POOL RESOURCES? WE ARE TRYING TO DEVELOP EFFICIENCIES, LOWER COST, DECREASE AMOUNT OF TIME. AND THEN WHEN YOU GET TO THE CLINICAL TRIAL PHASE, THINGS LIKE UMBRELLA TRIALS. YOU MAY HAVE HEARD OF BASKETS. ALSO UMBRELLAS, PLATFORMS, WAYSES TO TRY TO COLLECTIVELY STUDY DISEASES AND PRODUCTS TO TRY TO MOVE FASTER. THIS IS JUST ONE SCHEMATIC. YOU HAVE A DISEASE AREA, FOR EXAMPLE, DISEASE AREA THAT HAS A LOT IN COMMON. GENETIC TESTING BREAKS PATIENTS INTO GROUPS AND CAN THEY BE TREATED UNDER THE SAME PROTOCOL? SAME INVESTIGATOR, SAME SITES, SAME POINTS TO MOVE THINGS FASTER? THESE ARE JUST SOME IDEAS THAT ARE OUT THERE. THIS IS A HYPOTHESIS THAT IS BEING TESTED AND AGAIN, WE'LL PUBLISH MORE AS WE KNOW MORE. SO THOSE WERE JUST THINGS I WANTED TO TOUCH ON. HERE IS OUR CONTACT INFORMATION. PLEASE FEEL FREE TO GET IN TOUCH WITH US ANY TIME. AND THAT IS WHAT I WANT TO SAY ABOUT THE ORDR PROGRAMS. BUT, PRIOR TO MOVING ON TO OUR NEXT SEGMENT, WE ACTUALLY HAVE ONE SPECIAL TRIBUTE WE WOULD LIKE TO MAKE TO AN NCATS STAFF MEMBER. SO I'D LIKE TO INVITE DR. AUSTIN TO PLEASE COME BACK UP ON STAGE. [ APPLAUSE ] >> DR. AUSTIN: IT'S A BIT OF A SOMBER NOTE BUT WE WANTED TO DO THIS TODAY, NOT ONLY FOR THE PERSON I'M GOING TO TELL YOU ABOUT, BUT BECAUSE HE EXEMPLIFIES WHY WE ARE ALL HERE. JEFF SPENCER WAS A DEAR FRIEND AND COLLEAGUE OF MINE WHO I WORKED VERY CLOSELY WITH FROM THE FIRST DAY I GOT TO NIH IN 2002, UNTIL HIS DEATH LAST YEAR AT THE AGE OF 46. JEFF EXEMPLIFIED FOR ME, IN HIS LIFE, AND NOW IN HIS DEATH, WHY WE ARE ALL HERE TODAY. JEFF SUFFERED FROM A RARE DISEASE. HE ULTIMATELY SUCCUMBD TO THAT RARE DISEASE. HIS DISEASE WAS CALLED ADRENAL MYOPATHY. IT'S ONE OF THE MANY UNPRONOUNCEABLE, DIFFICULT TO DIAGNOSE, UNTREATABLE RARE DISEASES. BUT TO JEFF, TO HIS FAMILY, WHO IS WITH US HERE TODAY, TO US, TO NIH, TO ME, IT WAS ANYTHING BUT RARE. WE DEALT WITH IT EVERY DAY. WE LIVED WITH IT EVERY DAY. THEY DID MUCH MORE THAN WE DID. AND EVENTUALLY IT CONSUMED JEFF AND TOOK AWAY THIS FRIEND WE LOVED SO MUCH. THIS EXPERIENCE IS PAINFULLY COMMON TO THOSE OF YOU IN THIS ROOM, BUT JEFF IN LIFE, ALSOATIVIFIED THE RARE DISEASE COMMUNITY -- TYPIFIED. HE WAS MORE FULL OF LIFE THAN ANY INDIVIDUAL I EVER KNEW. HE NEVER COMPLAINED. THERE WASN'T A SINGLE EXCHANGE I EVER HAD WITH JEFF THAT DID NOT ENTAIL LAUGHTER. NOT ONLY WAS THAT A DELIGHT IN ITSELF BUT IT TAUGHT ME A LOT ABOUT THE ROLE OF LAUGHTER TO REDUCE TENSION TO, PUT PROBLEMS IN PERSPECTIVE, AND TO PUT PEOPLE IN THE MINDSET TO BE INNOVATIVE TO SOLVE PROBLEMS. JEFF WAS BORN IN NEWPORT NEWS, VIRGINIA. HE SERVED IN THE U.S. ARMY AND THEN EARNED A BACHELOR'S DEGREE IN COMMUNICATION AND JOINED THE NIH IN 1999 AS THE PRIMARY MEDIA CONTACT FOR THE GENOME INSTITUTE AND WAS DIRECTOR AT THE TIME -- FRANCIS COLLINS. WHEN I CAME NCATS DIRECTOR IN 2012, I ASKED JEFF TO HELP START OUR COMMUNICATION OFFICE. QUITE A RISK COMING FROM WHERE HE HAD BEEN AND WHAT NCATS WAS, JUST A START-UP AT THE TIME. HE TOOK THAT RISK AND CONTRIBUTED ENORMOUSLY TO MAKING NCATS THE INNOVATIVE AND RISK-TAKING ORGANIZATION AND LAUGHTER-FILLED ORGANIZATION THAT IT IS TODAY. HE LIVED IN SILVER SPRING WITH HIS WIFE, AMY WHO IS HERE. AND A PLETHORA OF RESCUE DOGS AND CATS. HE WAS A LONG-DISTANCE CYCLING ENTHUSIAST AND THE ENTHUSIAST, I MUST SAY, OF A DIFFERENT KIND OF MUSIC THAN IS MY TASTE, ALTERNATIVE NEW WAVE AND PURCHASING ROCK. HE WAS A PASSIONATE AND -- PUNK ROCK -- HE WAS REMEMBERED BY EVERYONE HE EVER TOUCHED HOWEVER BRIEFLY. AS YOU KNOW, NCATS IS IN MANY WAYS THE HOME OF RARE DISEASES RESEARCH AT NIH. AND AMONG OTHER DISEASES, WE WORK ON THE LEUKODYSTROPHIES OF WHICH ADRENAL MYOPATHY IS ONE. I'M A NEUROLOGIST BY TRAINING. I USED TO TAKE CARE OF PATIENTS WITH ADRENAL MYOPATHY. SO WHEN JEFF DEVELOPED SYMPTOMS OF HIS DISEASE, I COULDN'T HELP REALIZING THE PAINFUL IRONY THAT ONE OF OUR MOST BELOVED TEAM MEMBERS SUFFERED FROM A RARE DISEASE THAT ILLUSTRATED SO WELL WHY WE ARE SO FOCUSED ON ACCELERATING THE DEVELOPMENT OF TREATMENTS FOR THESE DISEASES. WE ULTIMATELY LOST JEFF TO THAT TERRIBLE DISEASE, MAKES IT MORE DETERMINED TO SUCCEED. BUT WE NEVER WANT TO FORGET THAT THOSE WHO WERE LUCKY ENOUGH TO KNOW JEFF, AND YOU ALL HAD THIS EXPERIENCE IN YOUR OWN LIVES OF SPECIAL RARE DISEASE PATIENTS; THOSE LIVES HAVE BEEN FOREVER CHANGED AND MADE BETTER AS WITH THE ORGANIZATIONS HE DID SO MUCH TO SERVE. SO AS A TRIBUTE TO JEFF, HIS COLLEAGUES HERE AT THE NIH, HAVE SIGNED A FRAMED PHOTOGRAPH, WHICH JEFF'S FAMILY IS HERE TO ACCEPT. JEFF'S WIFE, AMY, HIS MOM, PAT, HIS SISTERS NICOLE AND JENNIFER AND MOST ESPECIALLY, HIS TWO NIECES, SARAH AND ELLIE ARE HERE WITH US AS WELL. SO WE'D LIKE TO INVITE THEM UP TO THE STAGE TO ACCEPT THE PICTURE. [ APPLAUSE ] [ APPLAUSE ] YOU'RE AN INSPIRATION TO AL ALL OF US. AS ARE ALL OF YOU. THANK YOU. [ APPLAUSE ] >> THANK YOU VERY MUCH FOR THE SPENCER FAMILY, FOR BEING WITH US TODAY. SO NEXT, WE WOULD LIKE TO MOVE ON TO OUR ZEBY AWARD PRESENTATION. THIS IS SOMETHING BRAND NEW. AS MANY ARE AWARE, WE HELD A CONTEST LAST FALL AND IT WAS CALLED THE RARE DISEASES ARE NOT RARE CHALLENGE, WHICH DR. AUSTIN SPOKE ABOUT EARLIER. SO WHAT THIS WAS IS, THIS WAS A CALL TO THE COMMUNITY TO COME UP WITH CREATIVE WAYS TO HELP RAISE AWARENESS ABOUT RARE DISEASES AND THE PATIENTS AND RESEARCH ASSOCIATED WITH THEM. SO, YOU ALL BLUE US AWAY. WE GOT ALMOST 50 ENTRIES AND THEY WERE JUST AMAZING. WE LOVED EVERY ONE OF THEM BUT SINCE THIS IS A CHANNEL, WE DID HAVE TO COME UP WITH A FEW WINNERS. SEE WE NOW LIKE TO PRESENT -- WE HAVE FIRST AND SECOND PLACE WINNERS WITH US TODAY AND WE'D LIKE TO PRESENT THEM WITH THE FIRST-EVER ZEBY AWARDS. SO THE FIRST PLACE WINNER IS NANCY NETHERLAND. ARE YOU HERE? PLEASE, I INVITE YOU TO COME UP ON THE STAGE. HER SUBMISSION IS ENTITLED UNICORNS AND SUPER HEROES ARE RARE, RARE DISEASES ARE NOT. THIS IS DISPLAYED -- DR. AUSTIN CAN I INVITE YOU BACK TO THE STAGEAS WELL TO PRESENT THE ZEBY? ALL THE WINNERS ARE ACTUALLY IN ROOM C. YOUR DAUGHTER IS HERE? PLEASE COME ON UP. >> WE CAN TELL SHE IS THE ONE WHO DID ALL THE ART WORK. PLEASE COME ON UP. [ APPLAUSE ] [ APPLAUSE ] >> SO NANCY AND AMELIA, BEFORE YOU STEP DOWN, CAN YOU SHARE A WORD WITH US ABOUT WHAT INSPIRED YOU TO ENTER THE CONTEST? >> YES, THANK YOU. SO THIS IS MY DAUGHTER, AMELIA, SHE IS 11. AND SHE IS RARER THAN UNICORNS AND RARER THAN MERMAIDS. WHEN SHE GOT ILL WITH A RARE DISEASE, THERE WERE A NUMBER OF PLACES I REACHED OUT TO TO HELP ADVOCATE FOR HER HEALTH CARE AND THE NIH AND NCATS WAS ONE OF THE PLACES THAT I CAME TO. SO I WAS INSPIRED TO CONTRIBUTE TO AWARENESS ABOUT RARE DISEASES BECAUSE I THINK IT IS ON ALL OF US TOO CREATE AWARENESS AND ADVANCE THE RESEARCH AGENDA FOR ALL OF OUR KIDS, FAMILIES AND LOVED ONES. >> THANK YOU. [ APPLAUSE ] THANK YOU VERY MUCH NANCY AND AMELIA. SO AB, WE HAVE ALL OF THE ENTRIES ON A VIDEO LOOP. SO, PLEASE STOP BY AND TAKE A LOOK. AND THE WINNERS AND HONORABLE MENTIONS ARE PRINTED ON POSTERS. THE WINNING ENTRY, IS A SERIES OF POSTERS AND WE ACTUALLY PRINTED POSTERS AND PLEASE TAKE ONE HOME WITH YOU, SPREAD THE WORD AND DISSEMINATE. SO THANK YOU VERY MUCH TO NANCY. I'D ALSO NOW LIKE TO PRESENT THE SECOND PLACE WINNERS. CHRISTINA LOCHTE, LINDY BERG STRUM AND SARAH THAOES, WHO SUBMITTED A VIDEO OF, IN THE LAND OF RARE DISEASE, AND THE STAR OF THE VIDEO, CLAWEDET, IS ALSO HERE. PLEASE COME ON UP. [ APPLAUSE ] [ APPLAUSE ] >> CHRISTINA -- WOULD ONE OF YOU LIKE TO SHARE YOUR INSPIRATION FOR ENTRY? >> THANK YOU. THE FIRST THING I SHOULD ADMIT IS HOW MANY PEOPLE WORKED ON THIS VIDEO. SO I HAVE TO ALSO THANK OUR FILMMAKER, GRIFFIN HAMMOND. THE INSPIRATION, IT WAS ABOUT 30 E-MAILS, TWO GOOGLE DOCS, MANY PHONE CALLS LATER. IN THE END, I ACTUALLY WAS THINKING ABOUT THE STORY OF THE PIED PIPER, AND ABOUT THINGS THAT WERE TAKING AWAY FROM OUR CHILDREN, WHETHER IT WAS PARTS OF THEIR CHILDHOOD OR WORSE. AND I THINK IT'S VERY TELLING THAT SO MANY OF THE WINNERS AND ENTRANCE ALL WERE PARENTS. SO THAT WAS SORT OF A SOMBER NOTE TO OUR VERY HAPPY STORY. THANK YOU. [ APPLAUSE ] >> THANK YOU VERY MUCH. I'LL MENTION OUR THIRD PLACE WINNERS UNFORTUNATELY COULDN'T BE HERE TODAY. THEY ARE ACTUALLY HIGH SCHOOL STUDENTS FROM THE LOCAL AREA HERE AND I'M SURE THEY ARE STUDYING HARD IN CLASS. BUT THIS IS MATTHEW BEARDSAL, SAMMY AND NAVINE, AND THEIR VIDEO WAS ENTITLED UNICUSS. SO I URGE YOU TO TAKE A LOOK AT THESE. THEY WERE JUST WONDERFUL. SO THANK YOU VERY MUCH TO EVERYONE WHO ENTERED. WE REALLY APPRECIATE THE ENTHUSIASM. NOW WE'D LIKE TO MOVE ON TO OUR NEXT SPECIAL PRESENTATION. THIS IS ALSO A FIRST, AND IT'S CALLED, BEYOND THE DIAGNOSE. SO I'M GOING TO INTRODUCE PATRICIA WELTON. PAL TRISHA, THE MOTHER OF TWO CHILDREN BEGAN WORK OTHER IN THIS SPACE BY CREATING A NEW BUSINESS MODEL OF WORKING BY STATE. HER AWARD-WINNING WORK IN STATE-LEVEL ADVOCACY GREW TO THE NATIONAL ADVOCACY EFFORTS AND TODAY, PATRICIA PROUDLY WORKS TO SUCCESSFULLY USE ART AS A POWERFUL TOOL TO CREATE AWARENESS AND INCREASE INNOVATION INTO OVER AN AND NEGLECTED DISEASES -- ORPHAN AND NEGLECTED DISEASES. SO WELCOME. >> PATRICIA: THANK YOU, EVERYONE. THANK YOU. MY NAME IS PATRICIA WELTON AND I'M THE CEO AND FOUNDER OF RARE DISEASE UNITED -- BEYOND THE DIAGNOSIS. WE CHANGED OUR NAME. BUT MORE IMPORTANTLY, I'M THE MOTHER TO TWO CHILDREN WITH THE RARELY DIAGNOSED DISEASE, HYPERMOBILEELERS DOWN LOW SYNDROME. WE ARE SO EXCITED TO BE HERE TODAY BECAUSE WE ARE GOING TO CELEBRATE RARE DISEASE DAY AT THE NIH BY UNVEILING A PORTRAIT OF AMBER, WHO YOU SEE HERE. THE PORTRAIT WAS PAINTED BY ONE OF OUR PARTICIPATING ARTISTS, HODA. OUR MISSION -- FOR THOSE WHO DON'T KNOW, OUR MISSION AT BEYOND THE DIAGNOSIS S TO ADVANCE MEDICINE THROUGH ART. COMPASSIONATE, GENEROUS ARTISTS FROM ALL OVER THE WORLD HAVE DONATED THEIR TIME AND TALL TONIGHT PAINT PORTRAITS OF CHILDREN WITH A RARE DISEASE. THOSE PORTRAITS GO ON TO RESEARCH INSTITUTES, MEDICAL HOSPITALS, MEDICAL SCHOOLS ALL OVER THE COUNTRY. AND TODAY, IT'S LATE NOW BUT WE HAVE ALREADY UNVEILED A PORTRAIT FOR RARE DISEASE DAY IN IRELAND. SO YOU GET TO SHARE WITH US OUR FIRST INTERNATIONAL UNVEILING. BEYOND THE DIAGNOSIS HAS CREATED UNPRECEDENTED AWARENESS FOR RARE DISEASES. REACHING TENS OF MILLIONS OF MEDICAL PROFESSIONALS, RESEARCHERS AND THE GENERAL PUBLIC. WE WERE FEATURED ON CBS SUNDAY MORNING. WE ARE 6 MILLION VIEWERS LEARNED ABOUT OUR DIFFICULTIES, OUR RESILIENCE AND OUR LOVE FOR OUR RARE CHILDREN. WE WERE FEATURED IN THE LANCIT, THE WORLD'S OLDEST AND MOST THIS EXHIBIT HAS CAPTURED THE HEARTS OF EVERY SINGLE PERSON WHO SEES IT. WE HAVE BEGUN SHOWING THE EXHIBIT AT DISEASE-SPECIFIC EVENTS, NOT JUST AT MEDICAL SCHOOLS AND NON-DISEASE-SPECIFIC EVENTS. I WAS HONORED TO BE ABLE TO ATTEND THE UNVEILING OF A HEMOFEELIA PORTRAIT AT A HEMOPHILIA CONFERENCE. THAT WAS OUR FIRST DISEASE DISEASE-SPECIFIC, VENT. I WAS AMAZED TO SEE THE RESPONSE FROM THE COMMUNITY THERE THAT WAS THERE TO -- THEIR CONFERENCE WAS SPECIFIC TO HEMOPHILIA, BUT THEY WERE JUST AS INTERESTED IN THE OTHER PORTRAITS AS THEY WERE IN THE HEMOPHILIA PORTRAIT. THIS EXHIBIT BRINGS US TOGETHER AS A COMMUNITY. IT TAKES US BEYOND THE DISEASE. THE THING THAT MATTERS MOST TO US, OUR CHILDREN. OUR LOVE AND OUR FIGHT FOR OUR CHILDREN'S HEALTH IS WHAT DRIVES ALL OF US. DEMAND FOR BEYOND THE DIAGNOSIS HAS GROWN 500% IN JUST THREE YEARS. 500% WITHOUT US REACHING OUT TO A SINGLE VENUE. I KNOW YOU GUYS THINK I'M WORKING REALLY HARD, BUT PEOPLE ARE COMING TO US. I HAVE NOT REACHED OUT TO A VENUE IN THREE YEARS. YOU KNOW, WE HAVE STRUGGLED TO FIND FUNDING FOR THIS EXHIBIT. IT'S AN UNUSUAL WAY TO ADVANCE MEDICINE USING ART; BUT I'M NOT GOING TO STOP FIGHTING, BECAUSE I BELIEVE THAT OUR CHILDREN, OUR RARE CHILDREN, ARE MASTERPIECES. I WANT TO THANK THE FAMILIES WHO PARTICIPATE. I'M HUMBLED TO BE ENTRUSTED WITH YOUR CHILDREN AND I PROMISE YOU, THAT MY DEVOTION IS COMPLETE. I WANT TO THANK THE ARTISTS WHO DON'T JUST PUT THEIR TALENT INTO THESE PORTRAITS, THEY PUT THEIR HEARTS. WHAT HAVE HAS HAPPENED HERE, WHAT HAS HAPPENED WITH THIS EXHIBIT, IS MAGIC. I WISH I COULD READ TO YOU EVERY E-MAIL, EVERY COMMENT I HAVE EVER HEARD ABOUT WHAT THIS EXHIBIT MEANS TO THE PEOPLE WHO SEE IT. SO THANK YOU VERY MUCH. WE ARE SO GRATEFUL TO THE NIH FOR HAVING US HERE TODAY. WE ARE GRATEFUL FOR AMBER AND HER FAMILY FOR COMING. AND WE CAN'T WAIT TO THE SHOW YOU HER PORTRAIT. [ APPLAUSE ] >> GOOD MORNING, EVERYONE. MY NAME IS STEPHANIE AND I WORK WITH THE FAMILY PROGRAMMING TEAM AT THE CHILDREN'S INN AT NIH. A NON-PROFIT LOCATED DIRECTLY ACROSS FROM THE NIH COLLEGE CALL CENTER, THAT PROVIDES -- CLINICAL CENTER -- I'M HONORED TO BE HERE TODAY WITH ALL OF YOU ON THIS 2019 NIH RARE DISEASE DAY. AS A PERSON WITH A RARE DISEASE, MYSELF, RARE DISEASE DAY HOLDS A VERY SPECIAL PLACE IN MY HEART. I'M EVEN MORE HONORED TO INTRODUCE YOU TO A WONDERFUL GIRL AND HER LOVING FAMILY, 9 YEAR-OLD AMBER, LET LETY AND MIGUEL, OF SAN JOSE, CALIFORNIA. [ APPLAUSE ] WHEN AMBER STARTED WALKING AT 13 MONTHS, HER FAMILY NOTICED SHE COULDN'T STEP PROPERLY ON HER LEFT HEEL. SHE FELL OFTEN AND FOR NO APPARENT REASON. HER PEDIATRICIAN SUGGESTED THE GIRL WOULD GROW OUT OF IT. BUT INSTEAD, IT GOT WORSE. THE FAMILY WENT FROM DOCTOR TO DOCTOR AND ENDED UP SEEING A NEUROLOGIST WHO RAN GENETIC TESTS ON AMBER. THE TEST CAME BACK WITH DIFFICULT NEWS. AMBER HAS A HIGHLY-RARE, NEURODEGENERATIVE DISEASE CALLED GIANT AXONAL NEUROPATHY, GAN FOR SHORT. SIMILAR TO A CHILD'S FORM OF ALS. THERE IS NO TREATMENT OR CURE FOR GAN. BUT THE FAMILY LEARNED ABOUT A GENE THERAPY TRIAL AT THE NATIONAL INSTITUTE FOR NEUROLOGICAL DISEASES AND STROKE PARTICIPATE. THE DAY THEY FOUND OUT AMBER WAS ACCEPTED INTO THE TRIAL, THEY CELEBRATED. THEY HAVE BEEN STAYING AT THE CHILDREN'S INN FOR TWO YEARS NOW. AS PART OF HER TREATMENT, AMBER RECEIVED INJECTION OF THE HEALTHY COPY OF THE GAN GENE, EXACTLY ONE YEAR AGO. RIGHT NOW THE FAMILY IS STAYING AT THE CHILDREN'S INN FOR TWO WEEKS TO FOLLOW-UP TESTING AT THE NIH. THE GREAT HOPE IS THAT THE REVOLUTIONARY GENE THERAPY TRIAL CAN STOP AMBER'S DISEASE FROM PROGRESSING. AMBER LOVES COMING TO THE NIH AND HAS MADE FAST FRIENDS WITH HER DOCTORS, AND ALL THE CHILDREN AND STAFF AT THE CHILDREN'S INN. SHE IS BEST BUDDIES WITH OUR THERAPY DOG, JELLY, AND IS JUST A JOY TO HAVE PARTICIPATE IN OUR FAMILY PROGRAMMING ACTIVITIES. AMBER HAD THE CHANCE TO MEET FIRST LADY, MILANIA TRUMP WHEN SHE VISITED THE CHILDREN'S INN THE SECOND YEAR IN A ROW FOR VALENTINE'S DAY. SHE WAS SO EXCITED THAT THE FIRST LADY SAID SHE EVEN REMEMBERED HER FROM LAST YEAR. AMBER IS AN IMPRESSIVE AND JOYFUL YOUNG LADY AND SHE IS QUITE LITERALLY LEADING THE WAY FOR ALL OF US. AMBER IS ONLY THE TENTH PATIENT IN THE WORLD TO PARTICIPATE IN THIS EXCITING GENE THERAPY TRIAL. SHE IS INCREDIBLY BRAVE. AND ALL OF US AT THE CHILDREN'S INN ARE SO PROUD TO PLAY A SMALL ROLE IN AMBER'S AMAZING JOURNEY. AND NOW I THINK I SPEAK FOR ALL OF WHEN YOU SAY I SAY, WE ARE VERY EXCITED TO SEE HER PORTRAIT UNVEILED ON THIS VERY SPECIAL DAY. AMBER, ARE YOU READY? OKAY! [ APPLAUSE ] [ APPLAUSE ] >> NEXT, WE ARE GOING TO MOVE ON TO SESSION 1. THIS IS ON -- THE COLLECTIVE RESEARCH MODEL WITH THE NIH RARE DISEASES CLINICAL RESEARCH NETWORK. FIRST, I WOULD LIKE TO INTRODUCE DR. TINA, THE PROGRAM DIRECTOR IN THE OFFICE OF RARE DISEASES RESEARCH HERE AT NCATS. SHE IS HIGHLY INVOLVED WITH THE RARE DISEASES CLINICAL RESEARCH NETWORK, RDCRN, AND A MULTIDISCIPLINARY INTERNATIONAL PROGRAM IN OUR OFFICE. SHE WILL SPEAK MORE ON THIS NETWORK VERY SHORTLY. SHE CAME TO THE NIH IN 2006, WORKING AS A PROGRAM DIRECTOR AT THE NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT. SHE IS A DEVELOPMENTAL DISABILITIES SPECIALIST WITH A PH.D. FROM COLUMBIA UNIVERSITY. PLEASE JOIN ME IN WELCOMING HER TO THE STAGE. [ APPLAUSE ] >> THANK YOU, ALICE AND THANK YOU ALL FOR COMING TODAY. WE ARE HERE TO REPRESENT A RATHER LARGE NETWORK. THE CLINICAL RESEARCH NETWORK. IT'S REFERRED TO AS THE RDCRN. WE ALL LOVE OUR ACRONYMS SO YOU'LL BE HEARING A LOT OF THEM FROM US. THIS IS A PROGRAM THAT BEGAN IN 2002 WHEN PUBLIC LAW 107280 ESTABLISHED THE RDCRCs OF EXCELLENCE IN THE EARLY YEARS THERE WERE SEVEN CONSORTIA FUNDED. AS TIME WENT ON, IN 2008, THERE WERE OVER 19 CONSORTIA. AND BY 2013, THERE WERE 22 CONSORTIA, AND THAT IS WHAT WE HAVE RIGHT NOW. DURING THIS TIME, WE HAD 13 INDIVIDUAL CONSORTIA FUNDED, WHICH TOUCHED ON OVER 238 RARE DISEASES AND WORKED WITH OVER 40,000 PARTICIPANTS. WE ARE IN THE FUTURE NOW. IN FACT, THE LAST TWO WEEKS, WE HAVE BEEN DOING REVIEW FOR THE NEXT CYCLE OF OUR RDCRNs AND WE SHOULD BE HEARING SHORTLY WHO WILL BE FUNDED. RIGHT NOW HERE ARE THE CONSORTIA THAT WE HAVE FUNDED, AND TODAY WE HAVE REPRESENTATIVES FROM THREE OF THEM. WE HAVE MICHAEL SHY FROM THE INHERITED NEUROPATHIES CONSORTIUM. WE HAVE THE DEVELOPMENTAL -- CONSORTIA AND SIMA FROM THE SEER CONSORTIA. ONE THING YOU WILL NOTICE AS NOTICE FROM THE APPLAUSE, IS THE SCIENTISTS CAN'T DO THIS ON THEIR OWN. IT'S REALLY, THEY WORK IN PARTNERSHIP WITH THE PARENT COALITIONS AND THE PATIENTS. SO WE ALSO HAVE STEVEN ROBAR FROM THE TUBULAR SCLEROSIS ALIGNS AND ELLEN, THE PRESIDENT AND FOUNDER OF CURED, WHO WILL BE TALKING TO YOU ABOUT MANY THINGS. SO WE WILL START OFF WITH MICHAEL SHY. HE WILL TELL US A LITTLE BIT ABOUT NATURAL HISTORY STUDIES AND WHY THEY ARE SO IMPORTANT TO US. [ APPLAUSE ] >> MICHAEL SHY: THANK YOU, TINA AND THANKS TO EVERYBODY FOR ALLOWING ME TO PRESENT. SO, I'M THE PRINCIPAL INVESTIGATOR OF THE INHERITED NEUROPATHY CONSORTIUM. AND THEY ARE ALSO SOMETIMES CALLED SHARKO TOOTH DISEASE. AS WE HAVE GONE THROUGH THE HISTORY OF OUR CONSORTIUM, WE HAD TO DEVELOP A NATURAL HISTORIES STUDIES, BIOMARKERS AND GENE IDENTIFICATION STUDIES. THESE ARE SIMILAR CONCERNS THAT MOST OF THE CONSORTIA IN THE RDCRN HAVE TO DEAL WITH, AND I'M GOING TO USE OUR EXPERIENCE AS AN EXAMPLE OF THIS. LET'S SEE IF I CAN FIGURE OUT THIS. I WANT TO ECHO WHAT TINA SAID, THAT THESE ARE COLLABORATIONS. I DON'T KNOW IF I CAN DEAL WITH THIS NEW POINTER. I'M TEMPTED TO STAY WITH MY MOUSE UNLESS I FAIL WITH IT. BUT, WE COULD NOT DO THIS WORK WITHOUT PARTNERSHIPS WITH PEOPLE WHO HAVE INHERITED NEUROPATHIES AND WE COULDN'T DO THE WORK WITHOUT OUR PATIENT ADVOCACY GROUPS WHO WORKED WITH US THROUGHOUT THIS. AND I'M JUST GOING TO LIST THEM FOR THAT REASON. WE HAVE THE MUSCULAR DYSTROPHY ASSOCIATION. WE HAVE THE SHARK TOOTH ASSOCIATION. WE HAVE THE HEREDITARY NEUROPATHY FOUNDATION. WE HAVE THE CMT RESEARCH FOUNDATION. WE ALSO HAVE INTERNATIONAL ADVOCACY GROUPS, INCLUDING TELETHON FROM ITALY AND CMT U.K. AND AGAIN, NONE OF WHAT WE HAVE DONE WITH NATURAL HISTORY STUDIES COULD HAVE HAPPENED WITHOUT THE PARTNERSHIP OF PATIENTS AND WITHOUT THESE GROUPS. SO BEFORE I GET INTO TALKING ABOUT THE NATURAL HISTORY ITSELF, I WANT TO INTRODUCE THE DISEASES THAT WE ARE DISCUSSING. SO THESE ARE PERIPHERAL NEUROPATHIES, AS I SAID. THEY ARE OFTEN CALLED SHARKO MARRY TOOTH DISEASE. THESE EFFECT THE NERVOUS THAT LEFT THE SPINE AND GO TO THE FEET AND HANDS AND CAUSE PROGRESSIVE WEAKNESS, SENSORY LOSS, PROBLEMS WITH BALANCE, PEOPLE WHO HAVE DIFFICULTY WALKING, DOING FINE MOVEMENTS OF THEIR HANDS. AND WE SEPARATE THEM INTO TWO LARGE GROUPS. IN ONE GROUP, THE PROBLEM STARTS WITH GENETIC MUTATIONS IN THE GENES THAT MAKE MYELIN FOR THE PERIPHERAL NERVOUS SYSTEM. AND WE CALL THIS GROUP, CMT1. AND THEN THERE IS A SECOND GROUP WHERE THE PROBLEM STARTS WITH MUTATIONS IN GENES THAT AFFECT NEURONS AND THESE ARE BOTH MOTOR AND SENSORY NEURONS. AND WE CALL THIS GROUP, CMT TYPE II. AND UP UNTIL 1991, NOBODY KNEW THE GENETIC CAUSE FOR ANY OF THESE BUT SINCE 1991, WE HAVE DIFFERENT MUTATIONS ON GENES THROUGHOUT ALMOST ALL THE CHROMOSOMES. AND IN FACT, THERE ARE OVER 100 GENETIC CAUSES OF CMT AT THE MOMENT, ALTHOUGH FOUR TYPES CONSTITUTE MOST OF THOSE PATIENTS. SO WHEN WE STARTED, OUR TASK IS TO FIGURE OUT HOW THESE DISEASES PROGRESS. THIS IS WHAT WE CALL NATURAL HISTORY STUDIES. SINCE WE USE THESE TERMS LOOSELY SOMETIMES, I WANTED TO TRY TO BE PRECISE ABOUT IT. SO WHEN WE SAY NATURAL HISTORY, WE ARE TALKING ABOUT THE USUAL COURSE OF DEVELOPMENT OF A DISEASE, OR A CONDITION. SO THAT SOUNDS NICE BUT WHY IS THAT IMPORTANT? WELL, IF A PATIENT OR A FAMILY COMES TO TALK TO US IN THE CLINIC, AND WE HAVE DIAGNOSED THEM WITH A RARE DISEASE, LIKE CMT, THEY WANT TO KNOW WHAT IS THE LIKELY PROGRESSION OF THIS DISEASE? HOW IS IT GOING TO PROGRESS OVER TIME? WHO IS AT RISK IN MY FAMILY? THEN WE ALSO SEEN SLIDES EARLIER SHOWING ADVANCES IN GENE THERAPY AND NOVEL THERAPIES WHICH WERE INCONCEIVABLE A FEW YEARS AGO. IT'S IMPORTANT TO BE ABLE TO TELL IF THOSE TREATMENTS WORK. AND TREATMENTS MAY NOT INSTANTLY TOTALLY REVERSE A RARE DISEASE, BUT THEY MAY ALTER THE PROGRESSION. SO YOU NEED NATURAL HISTORY DATA TO BE ABLE TO KNOW WHAT THE DISEASE TYPICALLY DOES, SO YOU CAN SEE IF YOU'RE AFFECTING THAT. AND AGAIN, AS HAS BEEN MENTIONED BEFORE, THIS CAN'T BE DONE BY PEOPLE LIKE ME OR OTHER PHYSICIANS. THIS HAS TO BE DONE IN PARTNERSHIPS WITH PATIENTS AND FAMILIES BECAUSE YOU NEED TO SEE PATIENTS OVER YEARS TO BE ABLE TO GET THIS NATURAL HISTORY DATA. AND THESE DISEASES ARE RARE. SO I'M AT THE UNIVERSITY OF IOWA. MY CLINIC ISN'T BIG ENOUGH TO HAVE ENOUGH PATIENTS OF A RARE DISEASE, TO REALLY DO THE NATURAL HISTORY DATA. AND THIS IS WHERE THE RDCRN COMES IN, BECAUSE OF THAT SUPPORT WE HAVE BEEN ABLE TO HAVE INHERITED NEUROPATHY CONSORTIUM, A NETWORK OF OVER 20 SITES AND WE HAVE CENTERS THROUGHOUT THE WORLD. THE MAIN SUPPORT IS FROM THE NIH. AND IT ENABLES US TO DO WHAT IS HARD TO DO WITH JUST REGULAR RESEARCH GRANTS, WHICH IS TO ACTUALLY RECRUIT PATIENTS OVER YEARS, HAVE THEM COME BACK, AND ACTUALLY DO THE NATURAL HISTORY STUDIES THAT WE ARE INTERESTED IN. SO I THOUGHT I WOULD JUST SHOW YOU A COUPLE OF SLIDES JUST TO SHOW YOU WHAT THE DISEASES WE SEE LOOK LIKE AND SOME OF THE CHALLENGES WE FACE IN NATURA HISTORY DATA. SO THIS IS A LITTLE GUY WHO IS SEVEN YEARS OLD AND WHO HAS A TYPE OF CMT TYPE II, WHICH IS CALLED CMT2A. I THINK YOU CAN SEE HE HAS DIFFICULTY WALKING. HE IS AN EXTREMELY CUTE, TALENTED YOUNG GUY. SO THIS IS HIM WHEN HE IS AGE SEVEN. BUT THESE DISEASES PROGRESS. AND THIS IS HIM AT AGE 10. I WAS TRYING TO GET HIM TO WEAR A FILL EASE HAT, BUT I COULDN'T DO THAT. PHIL EASE. THESE ARE PROGRESSIVE DISEASES. SO SOME FORMS OF CMT PROGRESS RAPIDLY. BUT THEN I'M GOING TO SHOW YOU ANOTHER CHILD, AND THIS YOUNG LADY IS ALSO ABOUT SEVEN YEARS OLD. AND WE HAD TO GIVE HER THIS BRIBE OF A STUFFED BEAR TO GET PERMISSION TO SHOOT THIS FILM. AND SHE IS DOING A LITTLE BETTER THAN THE LAST CHILD, I SHOWED YOU BUT SHE STILL HAS PROBLEMS WITH BALANCE. IT'S AS FAST AS SHE CAN RUN. BUT THIS TYPE OF CMT, CALLED CMT1A, DOESN'T PROGRESS AT THE SAME RATE. SO I'M GOING TO SHOW YOU AN OLDER PATIENT, A PATIENT IN HIS 40s WITH THE SAME DISEASE. AND THERE IS VARIABILITY BUT THIS IS HOW MOST PATIENTS CMT1A PROGRESS. SO HE, ON THE FACE OF IT, LOOKS LIKE HE IS DOING PRETTY WELL, BUT HE CAN'T WALK WITHOUT AFOs, WITHOUT FALLING. HE HAS LIMITED USE OF FINE MOVEMENTS WITH HIS HANDS, SO AT WORK HE IS UNABLE TO ACHIEVE HIS POTENTIAL. BUT THIS IS A SLOWLY-GROW AGGRESSIVE FORM OF CMT. SO THE CHALLENGE TO US IS TO FIGURE OUT HOW TO LOOK AT ALL OF THESE PATIENTS, AND AS CLINICAL TRIALS FOR BOTH OF THE FORMS I SHOWED YOU, ARE ACTUALLY OCCURRING OR ABOUT TO OCCUR, WE NEEDED TO HAVE WAYS TO ASSESS THE NATURAL HISTORY HERE. AND THE WAY WE DO THAT IS WITH WHAT IS CALLED, CLINICAL OUTCOME ASSESSMENTS. THESE ARE MEASUREMENTS THAT ARE DONE IN THE CLINIC BY MEMBERS OF THE DIFFERENT SITES I SHOWED YOU. THEY ARE CROSS TRADE ON ALL OF THEM, AND I'M GOING TO SHOW YOU SOME EXAMPLES OF THESE. THE FIRST ONES I'M GOING TO SHOW YOU IS CALLED A COMPOSITE SCALE. THIS IS SOMETHING THAT CAN BE DONE QUICKLY IN THE CLINIC AS PART OF A ROUTINE EXAM. AND THEN I'M GOING TO GO THROUGH FUNCTIONAL SCALES AND PATIENT-REPORTED OUTCOMES. SO THIS IS THE CMT NEUROPATHY SCORE. I'M GOING TO SHOW YOU QUICKLY IN THE INTEREST OF TIME. THIS IS A SCORE THAT HAS NINE COMPONENTS. THE FIRST THREE IN YELLOW ARE SYMPTOMS THAT OR FUNCTIONAL SYMPTOMS BY WHICH HOW THE DECEASED AFFECTS PEOPLE. THEY MAY NOT BE ABLE TO USE THEIR HANDS TO BUTTON CLOTHES OR MAY NEED TO USE AFOs OR USE A WALKER TO GET AROUND. THAT IS CAPTURED IN THE SYMPTOMS. THE GREEN ITEMS ARE FINDINGS ON THE ROUTINE NEUROLOGICAL EXAM THAT YOU CAN QUANTIFY THAT LOOK AT NERVES GOING TO MUSCLES OR TO THE SENSORY ORGANS THAT HAVE TO DO WITH BALANCE OR FEELING AND TOUCH. THEN THE LAST IN BLUE, ARE SIZES OF WAVES ON THE NERVE CONDUCTION. SO BECAUSE THIS CAN BE DONE IN THIS PART OF THE CLINIC, WE HAVE BEEN ABLE TO DO THIS IN THOUSANDS OF PATIENTS AND GET GOOD LONGITUDINAL DATA ON AT LEAST THE MAIN TYPES OF CMT AND FOR SOME OF THE OTHERS. THAT IS HELPFUL FOR US TO UNDERSTAND PROGRESSION BUT IT'S NOT ADEQUATE TO DO CLINICAL TRIALS. AND WHAT WE HAVE DONE, AND I DON'T EXPECT YOU TO READ THIS, BUT THIS IS WHAT CONSORTIA HAVE TO DO AS THEY TRY TO INTERPRET NATURAL HISTORY DATA AND GET READY FOR CLINICAL TRIALS. YOU HAVE TO PARTNER WITH AGENCIES WHO YOU'RE GOING TO BE WORKING WITH IN THE FUTURE WITH THE TRIALS. SO, WE MET WITH THE FDA IN WHAT IS CALLED A CRITICAL PATH INNOVATION MEETING, JUST TO MAKE SURE WE ARE ALL ON THE SAME WAVELENGTH AS WHAT WILL BE NEEDED TO ACTUALLY LOOK AT TREATMENT CLINICAL TRIALS. ONE OF THE THINGS THAT THE FDA WORKED WITH US ON IS THE NEED TO DEVELOP FUNCTIONAL SCALES. THESE AREN'T AS QUICK TO DO. THEY MAY TAKE 20 MINUTES IN A RESEARCH SETTING, BUT THESE ARE NECESSARY. AND I SHOWED YOU PICTURES OF CHILDREN. WE NEED TO HAVE OUTCOME INSTRUMENTS THAT WE CAN USE IN CHILDHOOD. SO BECAUSE OF THIS, WE HAVE DEVELOPED WHAT IS CALLED THE CMT PEDIATRIC SCALE. ON THIS, WHEN YOU LOOK AT HAND FUNCTION, WHEN YOU LOOK AT BALANCE, AND HOW KIDS DO ON A SIX-MINUTE WALK. WE LOOK AT FUNCTIONS THAT GET IMPAIRED BY CMT. AND BECAUSE I'M AN EXPERT IN THE FIELD, I'M SPART ENOUGH TO KNOW THAT WHAT A FOUR-YEAR-OLD CAN DO IS DIFFERENT THAN WHAT A 28-YEAR-OLD CAN DO. SO THAT'S THE PRODUCT OF MANY YEARS OF EDUCATION. [ LAUGHS ] SO WHAT WE HAVE DONE TO DEAL WITH THAT -- I SAY WE, BUT THIS IS DONE BY ONE OF OUR SITES IN AUSTRALIA. BECAUSE OF THE RDCRN, WE CAN BE INTERNATIONAL. SO OUR COLLEAGUE, JOSH BURNS, PUT TOGETHER 1000 INDIVIDUALS IN WHAT IS CALLED THE ONE THOUSAND NORMS PROJECT, OF ALL DIFFERENT AGES AND GOT NORMATIVE DATA FOR WHAT WE NEED TO DO ON THE FUNCTIONAL OUTCOME SCALE. AND THEN HE DEVELOPED A ON LINE CALCULATOR WHERE IF YOU CLICK ON THIS ICON WITH THE RESULTS YOU GET FROM THAT FUNCTIONAL STUDY, IT GIVES YOU WHAT ARE CALLED Z SCORES, WHICH ARE HOW FINDINGS VARY FROM THE NORMATIVE POPULATION. AND YOU GET A SCORE FROM ZERO-44 THAT IS SEX AND AGE MATCHED. WE HAVE BEEN ABLE TO TAKE THIS INTO ADULTS ALSO WITH SOMETHING CALLED THE CMT FUNCTIONAL OUTCOME MEASURE. AND MORE RECENTLY, WE HAVE ALSO BEEN ABLE TO MOVE THIS INTO INFANTS BECAUSE WE KNOW WHAT INFANTS ARE SUPPOSED TO DO FROM BIRTH UP TO THE AGE OF 3-4, IN TERMS OF WHEN THEY ROLL OVER, WHEN THEY START TO WALK, WHEN THEY CAN REACH OUT AND PINCH OR GRASP. AND WE HAVE BEEN ABLE TO PUT TOGETHER A CMT INFANT SCALE, WHICH IS A FUNCTIONAL SCALE. AND SO, WE HAVE FUNCTIONAL SCALES FOR PEOPLE WITH CMT NOW THROUGHOUT THE LIFETIME. BUT THERE IS STILL A FAILING IN REALLY HAVING THESE CLINICAL OUTCOME ASSESSMENTS BE TOTALLY WHAT WE NEED BECAUSE WE ARE MISSING STILL, WHAT IS IN MANY WAYS, THE MOST IMPORTANT COMPONENT. ALL OF THOSE SCALES HAVE BEEN BUILT ON WHAT PHYSICIANS AND CAREGIVERS THINK, BUT THEY HAVEN'T BEEN BOLT WHAT PATIENTS THINK. AND SO THAT IS WHY WE PUT TOGETHER WHAT IS CALLED THE CMT HEALTH INDEX, WHICH IS A PATIENT-REPORTED OUTCOME MEASURE. AND BECAUSE OF THE WAY THE RDCRN IS SET UP WITH THE DATA MANAGEMENT COORDINATING CENTER, WE HAVE WHAT ARE CALLED PATIENT CONTACT REGISTRIES WHERE PEOPLE CAN GO ON LINE AND JOIN THE CONTACT REGISTRY FOR THEIR VARIOUS CONSORTIUM. SO WHAT WE HAVE DONE IS SENT OUT QUESTIONNAIRES THROUGH THE CONTACT REGISTRY. WE HAVE GOTTEN THAT DATA AND WE HAVE PUT IT TOGETHER TO DEVELOP A PARTIAL INSTRUMENT. WE HAVE TESTED THAT IN A PILOT POPULATION, GONE THROUGH IT AND AGAIN WITH PEOPLE WHO HAVE CMT AND NOW WE HAVE THE CMT HEALTH INDEX, A PATIENT-REPORTED OUTCOME MEASURE. SO AGAIN, THESE ARE OF THE TYPE OF AAPPROACHS THAT ARE NEEDED TO REALLY LOOK AT THE NATURAL HISTORY OF PATIENTS WITH RARE DISEASES LIKE CMT. BUT THERE IS MORE THAT WE NEEDED TO DO BECAUSE WE ALSO HAVE TO BE ABLE TO DETERMINE WHETHER POTENTIAL TREATMENTS CAN TARGET THE PROTEIN OR THE GENE THAT IT IS SUPPOSED TO. SOME OF THE OUTCOME OR NATURAL HISTORY STUDIES FOR THE SLOWER PROGRESSIVE DISEASES TAKE YEARS TO DO IN A CLINICAL TRIAL IF YOU JUST USE THE CLINICAL OUTCOME ASSESSMENT. SO, YOU NEED TO LOOK FOR WAYS WITH BIOMARKERS FOR CHANGES THAT MIGHT BE MORE SENSITIVE TO CHANGE, WHICH CORRELATED WITH THE CLINICAL OUTCOME ASSESSMENTS BUT WOULD LET US GET IN EARLY TO SEE IF A POTENTIAL TREATMENT WAS GETTING AN EFFECT. I'M GOING TO SHOW YOU THREE QUICK EXAMPLES OF WHAT WE HAVE BEEN DOING HERE. SO THE FIRST IS, TO LOOK AT SKIN. I JUST TWO MINUTES -- THE SKIN HAS NERVE CELLS IN IT. AND I SHOWED YOU THAT SLOWLY PROGRESSIVE FORM OF CMT, WHICH IS CMT1A CAUSED BY TOO MUCH OF A GENE CALLED PERIPHERAL IN MYELIN PROTEIN 22. AND YOU CAN GO INTO WITH A SKIN BIOPSY, AND YOU CAN MEASURE THE AMOUNT OF GENES BEEN EXPRESSED. HERE IS PMP22 IN A PATIENT WITH CMT1A AND HERE ARE CONTROLS. THIS IS ANOTHER MYELIN GENE THAT IS NOT AFFECTED IN THE DISEASE, CALLED MYELIN BASIC PROTEIN. THERE IS NO DIFFERENCE BETWEEN THE PATIENTS AND CONTROLS. AND THEN IF YOU NORMALIZE THE VALUES TO A PART OF THE CELL THAT IS NOT AFFECTED IN MYELIN, YOU CAN SEPARATE THESE OUT. NOW WE HAVE A BIOMARKER FOR TARGET ENGAGEMENT. THIS IS ANAXON. THIS IS WHAT A PERIPHERAL NERVE LOOKS LIKE. WHEN THIS DEGENERATES IN CMT, IT RELEASES A PROTEIN CALLED NEUROFILAMENT. YOU CAN MEASURE THAT AS A BIOMARKER THAT CORRELATES WITH DISEASE SEVERITY. AND FINALLY, YOU CAN LOOK IN MUSCLES AND THIS IS A CALF MUSCLE. THIS IS THE BONE. THIS IS MUSCLE. AND THIS LITTLE WHITE BIT HERE IS FAT WITHIN THE MUSCLE. AND THAT INCREASES WITH NERVE DAMAGE OVER TIME AND SEVERITY. YOU CAN CALCULATE THAT AND YOU CAN CALCULATE THAT IN SUCH A WAY THAT YOU CAN, IN THE MOST SLOWLY PROGRESSIVE FORMS OF WHY. MT, YOU CAN DETERMINE CHANGE -- FORMS OF CMT -- WITH VERY HIGH SIGNIFICANCE. AND THE LAST SLIDE I'M GOING TO SHOW YOU IS TO SAY, THAT IS FINE FOR THE TYPES OF CMT THAT YOU KNOW. AND THESE ARE GENETIC GENETICALLY-DIAGNOSED BECAUSE THE GENETIC PROBLEM IS AT THE HEART OF THE DISEASE BUT THERE ARE STILL PEOPLE WHO AREN'T GENETICALLY DIAGNOSED. WE HAVE BEEN ABLE TO USE OUR NETWORK, WHICH IS WORLDWIDE, TO IDENTIFY MANY OF THE NOVEL GENES DISCOVERED IN RECENT YEARS AND WE ARE STILL DOING THAT. AND THIS IS JUST A LIST OF THE CMT GENES THAT HAVE BEEN DISCOVERED IN THE LAST 5 OR 6 YEARS AND ALL OF THESE IN PURPLE OR BROWN HERE HAVE BEEN DISCOVERED THROUGH THE INC-RDCRN, ONLY POSSIBLE WITH THE SUPPORT FROM THE NIH. SOS THESE ARE THE GROUPS THAT HAVE BEEN PART OF THE INHERITED NEUROPATHY CONSORTIUM OVER THE LAST FEW YEARS. I'M SORRY TO HAVE RUSHED A LITTLE BIT AT THE END BUT I WANTED TO FINISH ON TYPE. SO THANK YOU. [ APPLAUSE ] >> SO THANK YOU VERY MUCH, MICHAEL. YOU REALLY GAVE US A VERY NICE OVERVIEW OF NATURAL HISTORY STUDIES AND I THINK YOU REALLY DROVE HOME THE POINT OF HOW VALUABLE IT IS AND HOW THERE IS SO MUCH VARIABILITY IN THESE RARE DISEASES, AND IT'S IMPORTANT TO UNDERSTAND FOR THE REASON OF KNOWING WHEN BEST TO TREAT AND WHAT THESE DIFFERENCES ARE. SO, NOW WE'LL TALK ABOUT WHAT ONE OF THE OTHER GROUPS IS DOING AND HOW THEY HAVE BEEN WORKING TOGETHER WITH THE C PACK AND THE RESEARCH GROUP -- CPAC. >> I'M A CHILD NEUROLOGIST AT BOSTON CHILDREN'S. CAN YOU HEAR ME NOW? I WANT TO THANK YOU FOR INCLUDING ME IN THIS EXCITING DAY. THIS IS AN ENERGIZING EVENT AND PROUD TO BE PART OF IT. I'M A CHILD NEUROLOGIST AT BOSTON CHILDREN'S AND THE PRINCIPAL INVESTIGATOR OF RARE DISEASE CONSORTIUM CALLED, DEVELOPMENTAL ISN'TOPATHY CONSORTIUM. WE ARE ONE OF THE NEWER CONSORTIA. WE JUST STARTED IN 2014. THE PROBLEM WE ARE TAKING ON IS AUTISM AND INTELLECTUAL DISABILITY. OBVIOUSLY AUTISM IS NOT RARE. IT AFFECTS 1-59 CHILDREN ACCORDING TO THE CDC. BUT IT TURNS OUT THAT AUTISM IS MADE UP OF A NUMBER OF RARE GENETIC DISORDERS. WE ESTIMATE THERE ARE APPROXIMATELY 400 TO 1000 DIFFERENT GENES THAT MAY GIVE YOU SUB SUSCEPTIBILITY FOR DEVELOPING AUTISM. WE DECIDED TO TAKE ON THIS PROBLEM BY FOCUSING ON THREE DIFFERENT GENETIC DISORDERS, TUBULAR SCLEROSIS COMPLEX AND P10 TUMOR SYNDROME AND -- DUE TO SHANK 3 MUTATIONS. THE REASON WE CHOSE THESE IS WE BELIEVE AT THE CELLULAR LEVEL, THEY ALL IMPINGE ON THE SAME PATHWAY THAT HAS TO DO WITH PROTEIN SYNTHESIS. SO BY DOING A COMPARATIVE ANALYSIS OF THESE THREE DISORDERS, WE HOPE TO GET A HOLD IN UNDERSTANDING THE MECHANISMS UNDERLYING AUTISM AND HOPEFULLY FINDING TREATMENTS FOR IT. WE WORK VERY CLOSELY WITH 11 DIFFERENT CENTERS FOR THIS CONSORTIUM I SHOW ON THE TOP. ONE THING I WANT TO HIGHLIGHT IS WHEN WE FIRST STARTED THIS CONSORTIUM, THE INVESTIGATORS WORKING ON THOSE THREE DISEASES WERE ESSENTIALLY NOT OVERLAPPING. THEY WERE ALL, AS YOU MAY IMAGINE, IN THEIR GROUPS WORKING ON THAT SINGLE DISORDER. WE BROUGHT TOGETHER THESE INVESTIGATIONS FROM 11 CENTERS WORKING ON THREE DISORDERS AT THE SAME TIME. AND WE ALSO WORK EXTREMELY CLOSELY WITH SIX DIFFERENT PATIENT ADVOCACY GROUPS: AND WE ARE GOING TO USE THE EXAMPLE OF TS ALIGNS AS ONE EXAMPLE OF HOW THIS CONSORTIUM WORKS WITH THE PATIENT ADVOCACY GROUP. I'M GOING TO TURN IT OVER TO THE CHIEF SCIENTIFIC OFFICER OF TS ALIGNS. >> THANK YOU ALSO FOR INVITING US TO BE A PARTS OF THIS. IT IS AN IMPORTANT DAY. AS HE SAID, THIS IS JUST ONE EXAMPLE. I THINK WE ARE VERY FORTUNATE TO HAVE A VERY STRONG RELATIONSHIP, A VERY STRONG COMMUNITY AMONG THE RESEARCHERS, DIFFERENT PATIENT ADVOCACY ORGANIZATIONS, NOT ONLY DURING THE TIME OF THE DEVELOPMENTAL SIN APTOPATHYS CONSORTIUM BUT BEFORE. I WANTED TO GIVE YOU A EXAMPL OF WHAT THE INTERACTIONS BACK-AND-FORTH ARE. SO, TO PUT THINGS IN PERSPECTIVE, THE TS ALLIANCES WAS FOUNDED IN 1974. THIS IS OUR 45th ANNIVERSARY. SO THESE THINGS DON'T HAPPEN OVERNIGHT. SO FOR THE YOUNGER ORGANIZATIONS IN THE AUDIENCE, OR THOSE WHO ARE JUST GETTING TO START ONE UP, HOPEFULLY THIS HELPS TO PUT IN PERSPECTIVE WHERE WE CAME FROM. IT WAS 10 YEARS FROM THE FOUNDING BEFORE THE TS ALIGNS AWARDED OUR FIRST RESEARCH GRANT. AND SO, DURING THAT TIME, IT WAS A PERIOD OF RAISING AWARENESS, ET CETERA. BUT THE RESEARCH THAT WE HELPED FUND BUT WAS PRIMARILY FUNDED BY NIH AND OF COURSE I'M SURE FROM OTHER DONORS AS WELL, FINALLY LED TO THE IDENTIFICATION OF THE TWO GENES THAT CAUSE TSC IN 1993 AND 1997. SO YOU CAN SEE MANY YEARS FROM THE FOUNDING OF THE TS ALIGNS UNTIL THE GENES WERE IDENTIFIED, BUT THEN WE STILL DIDN'T KNOW WHAT THE GENES DID. BUT THROUGH BASIC RESEARCH, A LINK WAS FINALLY MADE BETWEEN THE ROLE OF THE TS1 AND 2 GENES AND AN IMPORTANT CELL GROWTH REGULATING PROTEIN THAT WE CALL, mTOR. FORTUNATELY, mTOR WAS NAMED BECAUSE IT'S THE MECHANISTIC TARGET OF RAPA MICE IN. SO RAPA MICE IN EXISTED AND IT WAS ALREADY APPROVED FOR USE IN CERTAIN DISEASES LIKE PREVENTING ORGAN REJECTION AFTER TRANSPLANT. SO IMMEDIATELY, THIS TRIGGERED THE IDEA THAT mTOR INHIBITORS COULD BE USEFUL IN TSC. SO A WHOPPING 10 CLINICAL TRIALS STARTED BETWEEN 2003 AND 2011. MOSTLY FOCUSED ON TUMOR GROWTH BUT A LITTLE BIT ON THE NEUROPSYCHIATRIC ISSUES AND EPILEPSY AS WELL. SO, WITH DISCUSSIONS BACK IN 2001, THE YEAR I JOINED THE TS ALIGNS, I REMEMBER OTHERS CAME TO US AND SAID, THERE IS SOMETHINGS TO DO -- SO MANY THINGS TO DO IN TSC THAT THESE CLINICAL TRIALS, STARTING THEM UP ONE BY ONE IS BECOMING TOO MUCH OF A BURDEN. HOW CAN WE WORK TOGETHER TO GET A NETWORK IN PLACE TO STANDARDIZE THIS PROCESS SO THAT WE ARE NOT REINVENTING THE WHEEL AND STARTING FROM SCRATCH EVERY TIME WE WANT TO DO ANOTHER CLINICAL STUDY? AND SO THAT LED TO THE CREATION OF A CLINICAL RESEARCH CONSORTIUM, FIRST WITH FIVE SITES WORKING CLOSELY WITH THE ALIGNS. AND THE INITIAL FIVE SITES WERE ABLE TO APPLY TO NIH FOR A COUPLE OF GRANTS TO GET STARTED IN 2012 WITH TWO VERY IMPORTANT BIOMARKER STUDIES. REALLY FOCUSED NATURAL HISTORY STUDIES IF YOU WILL ON THE EPILEPSY AND THE AUTISM ASPECTS OF TSC IN VERY YOUNG CHILDREN, INFANTS AS WELL. AND WHEN THE NEXT ROUND OF APPLICATIONS FOR RDCRN CAME ALONG, THE GROUPS APPLIED FOR THE DEVELOPMENTAL SNAPPOPATHY CONSORTIUM REALIZING WHAT WE WERE DOING AND OTHERS WERE DOING IN THE P10 DISORDERS AND OTHER SYNDROMES, THAT WE COULD LEARN FROM EACH OTHER AND PROBABLY BE STRONGER TOGETHER. AND I THINK THAT IS CERTAINLY THE CASE. SO THAT CONSORTIUM LAUNCHED IN 2014. ABOUT THE SAME TIME, THE TS ALIGNS LAUNCHED A BIOSAMPLE OR REPOSITORY AND I MENTION THIS PROJECT SPECIFICALLY, BECAUSE IT WAS WORKING WITH THE RDCRN INVESTIGATORS, THAT WE STARTED COLLECTING OUR FIRST SAMPLES. WE SAID, YOU'RE COLLECTING BLOOD FOR THIS STUDY ANYWAY, WHY DON'T WE COLLECT IT AT THE TS ALIGNS AND SO YOU DON'T HAVE TO STORE IT AT FIVE DIFFERENT SITES AND DON'T HAVE TO PAY FOR IT OUT OF YOUR GRANT. WE CAN DO THAT PART AND WE'LL HAVE THE SAMPLES INDEFINITELY AS WELL EVEN AFTER THE PROJECT ENDS. AND THEY SAID, YES, SOUNDS GREAT. SO NOW WE ARE ARE DOING THAT NOT ONLY FER DSN BUT ALSO FOR THE NEW TRIALS THAT ARE ONGOING, SUCH AS THE PREVENT STUDY, WHICH IS THE FIRST CLINICAL TRIAL IN THE U.S. THAT IS LOOKING AT PREVENTING EPILEPSY. BECAUSE WE CAN DIAGNOSIS MANY TSC BABIES BEFORE THEY DEVELOP SEIZURES. SO THERE IS AN OPPORTUNITY FOR EARLY INTERVENTION TO SEE IF WE CAN PREVENT THE SEIZURES ALL TOGETHER. AND SO THEN AGAIN IN BOUNCING BACK-AND-FORTH BETWEEN THE RESEARCHERS AND THE TS ALIGNS, TO REALLY HELP PUSH THIS FORWARD IN THE FUTURE AT OUR WORLD CONFERENCE IN DALLAS LAST YEAR, WE REALLY MADE A FOCUS. WE TALKED ABOUT ALL ASPECTS OF THE DISEASE BUT THERE WAS A BIG FOCUS ON THE IMPORTANCE OF CLINICAL STUDIES, CLINICAL TRIALS, AND PARTICIPATION. >> SO I'M GOING TO ASK YOU SOME QUESTIONS ABOUT HOW YOU HAVE MANAGED TO WORK WELL TOGETHER. WHAT ARE SOME OF THE KEY WAYS THE TS ALIGNS INTERACTS WITH THE RDCRN'S DEVELOPMENTAL NOMINEES CONSORTIUM IN GENERAL? HOW DO YOU REGULARLY WORK TOGETHER? >> SO WHAT I MENTIONED IS WITH THE COLLECTION OF BIOSAMPLES AT THE DIFFERENT SITES. SO THAT IS AN ONGOING PROCESS. WE PARTICIPATE IN REGULAR MEETINGS. SO ALL THE MONTHLY MEETINGS AND DISCUSSIONS THAT THE PIs HAVE. >> INVESTIGATORS MEET AT THE ANNUAL MEETINGS AT THE TS ALIGNS AND WE DO OUR HARMONIZATION OF OUR BIOMARKER AND TREATMENT PROTOCOLS AT THOSE MEETINGS. AND PATIENTS ARE ANOTHER WAY WE HAVE BEEN ABLE TO REACH OUR ENROLLMENT GOALS VERY QUICKLY WITH THE HELP OF THE TS ALIGNS. >> SO YOU'RE WORKING WITH MULTIPLE DIFFERENT DISORDERS IN YOUR CONSORTIA. SO HOW IS HAVING MULTIPLE DIFFERENT PATIENT ADVOCACY GROUPS AND DISEASES WORKING TOGETHER, HOW DOES THAT HELP MAKE A DIFFERENCE IN THE SCIENCE? >> THIS REALLY HAS BEEN IN SOME WAYS, SURPRISING AND TRANSFORMATIVE FROM MY PERSPECTIVE. WE LEARNED THINGS FROM EACH DIFFERENT PATIENT ADVOCACY ORGANIZATION THAT HAVE TRIED TO LEVERAGE THOSE NEW INSIGHTS TO THE OTHER DISORDERS. SO FOR EXAMPLE, THE McDERMOTT COMMUNITY REACHED OUT AND GAVE US A PILOT PROJECT TO WORK ON THE PRESENTATION OF THIS DISORDER IN ADULTS. WE HAD FOCUSED PREDOMINANTLY ON THE EARLY DISEASE IN YOUNG CHILDREN BUT THEY WANTED US TO INVESTIGATE HOW THIS AFFECTED OLDER INDIVIDUALS. SO THIS BECAME THE CENTER POINT FOR OUR RENEWAL APPLICATION AND WE ARE NOW,A PLYING THE SAME THING TO P10 AND TUBULAR SCLEROSIS AS WELL. SO HERE WE CAN TAKE THE MOTIVATION AND THE QUESTIONS RAISED BY THE COMMUNITY TO THE OTHER DISORDERS. >> SO WHAT DO YOU THINK, IN ONE WAYS HAVE THE RELATIONSHIPS WITH THE PACS, YOU AND STEVE, DIRECTLY IMPACTED THE RESEARCH, THE SCIENCE ITSELF? >> I THINK I CAN -- I'LL SPEAK FROM THE TSC PERSPECTIVE ANYWAY. SO ONE WAY IS REALLY MAKING THE AWARENESS OF THE COMMUNITIES PERCEPTION. SO THE PATIENTS, CAREGIVERS, ADULTS LIVING WITH TSC. THE PATIENT PERSPECTIVE AND WHAT ARE THE IMPORTANT QUESTIONS FOR RESEARCH? SO WE HAVE A NUMBER OF SURVEYS WE HAVE DONE OVER THE YEARS. WE HAD A PATIENT-FOCUSED DRUG DEVELOPMENT MEETING WITH THE FDA AND 2017. THOSE ARE SOME WAYS TO KEEP THE NEEDS FRONT AND CENTER. WE ALSO -- OF COURSE THE REGULAR PARTICIPATION HELPS. WE ARE ALWAYS TIED IN. AND I THINK HELPING GET THE WORD OUT THROUGH THE COMMUNITY, AND NOT JUST THROUGH THE TS ALIGNS OR THROUGH THE CLINIC. SO THROUGH EDUCATING OUR COMMUNITY, FOR EXAMPLE AT THE WORLD CONFERENCE, WE ARE EDUCATING THEM SO THAT WHEN THEY CONTACT OTHER INDIVIDUALS, PERHAPS NEWLY-DIAGNOSED OR CHILDREN ARE NEWLY-DIAGNOSED WITH TSC, MAY HAVE A OPPORTUNITY TO PARTICIPATE IN A STUDY OR A TRIAL, THEY GET THE PEER-TO-PEER CONNECTION BECAUSE OUR COMMUNITY LEADERS ARE WELL INFORMED AND CAN SAY, YOU MIGHT CONSIDER PARTICIPATING IN THIS. THINK ABOUT THIS. THIS IS WHERE YOU COULD GO FOR QUESTIONS. >> OKAY. SO LET'S CHANGE GEARS A LITTLE BIT AND SWITCH TO ONE OF OUR OTHER CONSORTIA. OUR SIEBER CONSORTIA. DO YOU WANT TO GO FOR IT? >> SURE. YOU CAN HEAR ME OKAY? I'M FROM THE UNIVERSITY OF CALIFORNIA AT SAN DIEGO AND WE ARE REALLY PLEASED TO BE HERE. I'M HERE WITH ALAN WHO IS THE PRESIDENT AND FOUNDER OF CURE ED. AND WE WORK TOGETHER ON THE CONSORTIUM FOR RESEARCHERS AND WE ARE PLEASED TO BE HERE. NONE OF OUR SLIDES ARE COMING UP. >> ALICE? >> SORRY. >> THERE WE GO. SO I WANTED TO ASK YOU ABOUT HOW THE RELATIONSHIP WITH SEEBER STARTED AND HOW DO YOU WORK BEST TOGETHER? >> THANK YOU. SO LIKE STATED BEFORE, WE HAVE BEEN WORKING TOGETHER FOR A LONG TIME ABOUT MORE THAN 15 YEARS HAVE GONE BY WE HAVE BEEN WORKING TOGETHER. THE PAC HAS BEEN PIVOTAL FOR OUR CAREERS. ME INCLUDED. IT WAS FUNDING THAT HELPED ME START MY LAB AND I STILL HAVE A E-MAIL TACT UP ON MY BOARD FROM ONE OF THE PATIENTS THAT CAME TO THE FIRST CONFERENCE IN SAN DIEGO ASKING QUESTIONS AND TELLING ME MY RESEARCH WAS MAKING A DIFFERENCE. AND THAT'S REALLY IMPORTANT TO US. WE HAVE BEEN WORKING TOGETHER FOR A LONG TIME FROM THAT STANDPOINT. THE PAGs TEACH US HOW TO ADVOCATE FOR THE PATIENTS. THEY TEACH US HOW TO GO IN FRONT OF THE LEGISLATURE AND TALK ABOUT ICD CODES THAT DIDN'T EXIST. THEY HELP US TALK ABOUT ELEMENTAL FORMULAS AND HOW TO GET INSURANCE COMPANIES TO PAY FOR IT. AND WE HAVE BEEN PUBLISHING PAPERS TOGETHER. THIS IS ONE WITH THE RDCRN AND THE BEING PART OF THAT REALLY SOLIDIFIED OUR ABILITY TO WORK TOGETHER. WHEN WE WERE FIRST APPLYING FOR OUR GRANT, THE FIRST PLACE THAT INVESTIGATORS TURNED TO WAS TO OUR PAG COLLABORATORS TO ASK THEM HOW TO FORM CLINICAL TRIALS. AND ALAN REMEMBERS LOTS OF PHONE CALLS AND E-MAILS. CONFERENCE. WE STARTED CURE ED IN 2003 WHEN MY DAUGHTER WAS DIAGNOSED WITH A DISEASE. AND IN 2011, WE DID OUR FIRST EDUCATION CONFERENCE AND IT WAS REALLY IMPORTANT TO ME THEN THAT I WOULD BRING IN PHYSICIANS, RESEARCHERS AND PATIENTS. AND THAT THEY WOULD WORK TOGETHER AND DO A RESEARCH CONFERENCE AS WELL AS HAVING THE PATIENTS WATCH, AND THE PATIENTS& BE A PART OF THE CONFERENCE AND REALLY TALK TO THE DOCTORS AND THE RESEARCHERS AND LET THEM KNOW WHAT IT WAS LIKE LIVING WITH THE DISEASE. AND THEN, THE RESEARCHERS APPLIED FOR THIS GRANT FROM THE RDCRN AND REALLY ALL MY VISIONS WERE RIGHT THERE IN FRONT OF ME AT THE RDCRN. THEY GAVE THESE DOCTORS THE FINANCIAL NEEDS THAT THEY NEEDED TO DO THE RESEARCH BUT WHAT THEY DID IS BROUGHT INVESTIGATORS TOGETHER AND THEY CAN WORK TOGETHER. AND OBVIOUSLY ALL THEIR HEADS TOGETHER INSTEAD OF DOING EVERYTHING ON A SEPARATE LEVEL, WAS KEY FOR US. AND ALSO BRINGING THE PATIENT ADVOCACY GROUPS TOGETHER. SO IT'S NOT JUST CURED. IT'S THE EFC AND WE WORK TOGETHER AND WE HELP IN ANY WAY WE CAN. BUT I DO REMEMBER THE FIRST PHONE CALL WITH ALL THE DOCTORS AND RESEARCHERS. AND WE ARE ON EVERY PHONE CALL. THEY WERE TALKING ABOUT A RESEARCH PROJECT AND THEY SAID, WHAT DO YOU THINK ABOUT THAT, ELLEN? AND I WAS THINKING, OKAY, ARE THEY REALLY GOING TO LISTEN TO ME IF I TELL THEM? AND I TOLD THEM. AND THEY LISTENED. AND BEFORE ME, THEY JUST CHANGED THE GEAR OF WHERE THEY WERE GOING WITH THE RESEARCH BECAUSE THEY COULD UNDERSTAND THE PATIENT'S NEEDS MORE THAN JUST THE OFFICE VISIT AND THE LAB RESULTS. THEY COULD UNDERSTAND THE EMOTIONAL NEEDS OF THE PATIENTS. SO, IT'S REALLY AN INCREDIBLE FEELING TO KNOW THAT EVERY STEP OF THE WAY OUR VOICE MATTERS AND BECAUSE OF THE RDCRN, WE ARE ABLE TO BE A PART OF THIS WONDERFUL CREATION. >> SO WE HEARD FROM MICHAEL ABOUT WHY IT'S IMPORTANT TO DO NATURAL HISTORY STUDIES AND THE RESEARCH. AND WE HEARD FROM MUSTAFA AND STEVEN, ABOUT WHAT KIND OF RESEARCH AND HOW THEY ARE DOING IT. AND YOU ALL ARE TALKING ABOUT WHAT YOU'RE COLLECTING. HOW DO YOU HELP DISSEMINATE THOSE SCIENTIFIC INFORMATIONS FROM THE RARE DISEASE CONSORTIA TO THE COMMUNITY? HOW DO WE GET THAT INFORMATION OUT? >> SO THERE IS LOTS OF WAYS THAT THE PAGs. I'M NICE AND LOUD. -- HELP OUR DISSEMINATE OUR INFORMATION. ONE IS THROUGH THE PATIENT EDUCATION CONFERENCES SO THEY HAVE THEM ANNUALLY OR EVERY TWO YEARS. AND SINCE JOINING THE RDCRN, WE HAD SPECIAL CIEGR DAYS. SO WE CAN SHOW WHERE WE ARE GOING AND IT'S OUR ABILITY AS INVESTIGATORS AT VARIOUS SITES TO MEET THE PATIENTS FROM ALL THE OTHER SITES AND BE ABLE TO THANK THEM FOR PARTICIPATING IN OUR TRIALS. SO THAT IS VERY IMPORTANT TO US. DOWN BELOW IN THIS SLIDE, YOU CAN SEE A JUNIOR FACULTY MEMBER THAT HAS BEEN SUPPORTED BY THE PAGs AND CIEGR AND THE IT GIVES THE JUNIOR FACULTY THE OPPORTUNITY TO PRESENT THEIR WORK. THOSE OF US THAT ARE OLDER IN THE FIELD, WE WANT TO KEEP THIS GOING. IT'S REALLY IMPORTANT TO CREATE A LEGACY. SO THAT HAS BEEN REALLY NICE. AND I'LL TELL YOU THAT THE PAGs ARE SO MUCH A PART OF OUR CONFERENCES, THAT AT THE RECENT AMERICAN ACADEMY OF ALLERGY, ASTHMA AND IMMUNOLOGY, ALAN WAS GIVEN THE DISTINGUISHED LAYPERSON AWARD FOR ALL OF HER HARD WORK. SO CONGRATULATIONS TO HER. [ APPLAUSE ] -- ELLEN. >> SO ONE THING THAT WE ARE ABLE TO DO WHEN THERE IS A TRIAL, WE ARE ABLE TO PUT IT OUT THERE ON SOCIAL MEDIA AND WE ARE ABLE TO LET PATIENTS KNOW WHAT DIFFERENT TRIALS ARE OUT THERE. ONE THING I LEARNED IS THAT NOT EVERY PATIENT WAS WILLING TO GIVE AN EXTRA TUBE OF BLOOD AND NOT EVERY PATIENT IS WILLING TO LET THEM TAKE AN EXTRA TISSUE SAMPLE. AND THEY DIDN'T UNDERSTAND WHAT IT MEANT TO THE RESEARCH, AND THEY DIDN'T UNDERSTAND HOW THAT IS ABLE TO HELP COME UP WITH ALL OF THESE NEW TREATMENT PLANS. AND SO, AS A PATIENT ADVOCACY GROUP, NOT ONLY WAS I ABLE TO HELP THE DOCTORS AND LET THE DOCTORS KNOW WHAT OUR NEEDS WERE, BUT I WAS ABLE TO TALK TO THE PATIENTS AND LET THE PATIENTS UNDERSTAND WHY WE NEEDED THAT BLOOD. WHY THE DOCTORS NEEDED THAT TISSUE. WHAT BEING PART OF A MEDICAL TRIAL DOES TO HELP OUR DISEASE. AND YOU JUST CAN'T WAIT FOR SOMEBODY ELSE TO GIVE THAT BLOOD. YOU NEED TO BE A PART OF THAT AND YOU NEED TO LET YOUR PATIENTS KNOW. PEOPLE DON'T UNDERSTAND. JUST TAKE THAT FOR GRANTED THAT EVERYBODY GETS IT. BUT WE GOT TO LEARN FROM THE RESEARCHERS AND WE ARE ABLE TO BRING THAT BACK TO OUR COMMUNITIES. SO IT IS REALLY IMPORTANT. >> SOME OF THE OTHER WAYS THE PAGs HELP US TO DISSEMINATE INFORMATION IS THROUGH THEIR WEBSITES. SO CURED AND THE FAMILY COALITION HAVE LINKS TO THE CEIGR SITE SO IT'S EASY TO NAVIGATE WHEN YOU GO TO THEIR WEBSITE. THEN CLICK TO OUR WEBSITE AND THEN YOU CAN JOIN THE CONTACT REGISTRY. YOU CAN FIND OUT WHICH TRIALS ARE OPEN. AND AS INVESTIGATORS ON RARE DISEASES, IT'S HARD TO FIND THE PATIENTS. IT'S HARD TO FIND JUST THE RIGHT PERSON FOR YOUR TRIAL SOMETIMES AND YOU'RE ALMOST DONE AND YOU REALLY WANT TO GET THAT DATA AND FIND THE INFORMATION BECAUSE YOU REALLY WANT TO HELP THESE PEOPLE. AND SO, IT'S REALLY SO NICE WHEN YOU WALK IN THE DOOR IN THE MORNING AND THERE IS EITHER A TEXT OR E-MAIL FROM SOMEONE LIKE ELLEN TELLING US THAT THEY HAVE FOUND SOMEBODY ELSE THAT MIGHT BE INTERESTED IN ONE OF OUR TRIALS. OUR PAGs WORK HARD AND PUT OUT NEWS LETTERS FOR US AND THEY LINK OUR NEW STUDIES SO THIS IS ANOTHER STUDY WITH THE RDCRN USING THE TISSUE SAMPLES THAT ELLEN WAS JUST TELLING YOU ABOUT THAT ARE SO IMPORTANT TO US SO WE CAN FIND NEW MOLECULAR MECHANISMS OF THE DISEASE. AND SO I KNOW ELLEN HAD EXPERIENCES WITH PEOPLE COMING INTO TRIALS FOR US THIS WAY. >> SO, BACK TO THE SOCIAL MEDIA. WE POST ALL THE DIFFERENT TRIALS. WE POST ABOUT THE CONTACT REGISTRY. IT'S REALLY IMPORTANT TO ENROLL. AND PATIENTS DON'T KNOW ABOUT IT. SO WE ARE ABLE TO BRING THAT INFORMATION TO THE PATIENTS. BUT I HAVE PATIENTS CALL ME FROM ALL OVER THE U.S. AND THEY ARE AFRAID OF THEIR DISEASE. THEY ARE AFRAID OF WHAT IS COMING. I HAD A GENTLEMAN TELL ME HE WAS SO SICK EVERY TIME HE ATE, HE DIDN'T WANT TO EAT ANYMORE AND I WAS ABLE TO LET HIM KNOW THERE WAS A TRIAL FOR ADULTS OUT THERE FOR ELEMENTAL FORMULA. AND HE HAD NO IDEA. AND HE WAS ABLE TO GO BACK TO HIS DOCTOR AND SAY, I WANT TO BE PART OF THIS TRIAL. WHERE DO I GO? WHAT DO I DO? SO WE ARE REALLY ABLE TO GET INFORMATION OUT ABOUT EVERY TRIAL. AND IF YOU HAVE A PATIENT ADVOCACY GROUP AND YOU'RE NOT ON SOCIAL MEDIA, YOU NEED TO BE ON SOCIAL MEDIA. WE HAVE SUPPORT GROUPS ON FACEBOOK. THEY ARE PRIVATE. THEY ARE FRIENDS AND FAMILY CAN'T SEE. IT'S A GOOD PLACE FOR THEM TO GO AND VENT AND LEARN AND WE ALSO HAVE A PUBLIC PAGE THAT THEY CAN SHARE WITH THEIR FAMILIES. IN THOSE GROUPS, WE SHARE EVERY SINGLE TRIAL AND PATIENTS ARE JUST AMAZED WHAT THESE RESEARCHERS ARE DOING, AND THAT THEY CAN BE PART OF THESE TRIALS AND HELP BETTER THE LIVES OF EVERYONE SUFFERING FROM THE DISEASES. SO, THAT IS ANOTHER THING THAT THE RDCN BOUGHT TO US, IS THE CAPABILITY TO BE ABLE TO BE PART OF EACH AND EVERY TRIAL GOING ON. >> SO HOW DO YOU PAGs INFLUENCE WHAT CEIGR DOES? HOW DOES WHAT THEY TELL YOU CHANGE THE SCIENCE? >> SO THE PAGs INFLUENCE, OUR RESEARCH AT MULTIPLE ENTRY POINTS AT EVERY LEVEL FROM THE BEGINNING OF THE TRIAL DESIGN WE WANT THEIR INPUT. WHAT MATTERS TO THE PATIENTS IN WHAT CHANGES YOUR EXISTENCE EVERY DAY THAT WE SIMPLY DON'T DEAL WITH ON A DAY-TO-DAY BASIS? AND THEN, OF COURSE WITH THE RESEARCH FINDINGS, WE NEED THEIR HELP TO GET THE PATIENTS RECRUITED. WE NEED THEIR HELP TO THEN GET THE SAMPLES THAT WE NEED. WE NEED THEIR HELP TO THEN DISSEMINATE THE RESEARCH INFORMATION TO THE COMMUNITY TO SHOW THEM WE ARE ACTUALLY DOING WHAT WE ARE TRYING TO DO, AND TO EDUCATE PEOPLE. IT'S ONLY THAT WAY WHEN WE WORK TOGETHER THAT WE CAN INFLUENCE POLICIES AND GET MORE FUNDING FOR THINGS LIKE THE RARE DISEASES CONSORTIUM, WHICH HAS BEEN SO IMPORTANT TO US, TO THEN COME BACK AND MODIFY OUR RESEARCH AGENDA SO WE CAN MOVE FORWARD. SO, FOR ME, THAT IS THE PERFECT PLACE TO JUST SAY, THANK YOU TO THE RDCRN AND TO OUR PATIENT ADVOCACY GROUPS, CURED AND THE FAMILY COALITIONS AND OTHERS AND TO OUR PATIENTS AND FAMILIES, OUR SUBMISSION TO HELP IMPROVE THE LIVES OF INDIVIDUALS LIVING WITH THESE GI DISORDERS AND I'LL LET ELLEN HAVE THE FINAL WORDS. >> SO I ALSO WANT TO THANK THE RDCRN. IT WAS MY DREAM AND MY VISION THAT ALL THE DOCTORS WOULD WORK TOGETHER INSTEAD OF KEEPING THEIR INFORMATION SEPARATE. AND THE RDCRN WAS ABLE TO DO THAT. I HAVE TO TELL YOU TOO, IF YOU'RE A PATIENT ADVOCACY GROUP, I HOPE YOU'RE AS LUCKY AS WE ARE. OUR DOCTORS AND RESEARCHERS, THEY REALLY LISTEN TO EVERY WORD WE ARE SAYING. THEY ARE NOT JUST HAVING US ON THE CALLS BECAUSE WE ARE REQUIRED TO BE THERE. WE ARE ASKED TO SPEAK ON EVERY CALL. WHAT WE ARE DOING, HOW WE ARE RAISING MONEY, HOW WE ARE GETTING THE WORD OUT TO THE PATIENTS. THEY WANT TO KNOW ONLY THE PEOPLE WITH THAT RARE DISEASE WANT TO PARTAKE IN YOUR FUNDRAISING EFFORTS. SO THE FACT THAT THE RDCRN MADE OUR LIFE EASIER BY GIVING THIS AMOUNT OF MONEY FOR RESEARCH, IS REALLY CHANGING THE LIVES FOR EVERYBODY LIVING WITH THIS DISEASE. SO WE ARE GRATEFUL TO THE RDCRN AND NIH AND ESPECIALLY TO ALL THE RESEARCHERS AND DOCTORS. THEY ARE REALLY INCREDIBLE PEOPLE. [ APPLAUSE ] >> SO ONE THING I WILL SAY SATURDAY RDCRN EXISTS -- THIS IS A RESOURCE FOR ALL OF YOU. YOU CAN REACH OUT TO THE INVESTIGATORS, TO THE PAG MEMBERS AND LEARN FROM THEIR EXPERIENCES AND WHAT THEY HAVE DONE. SO ALICE, I'M NOT SURE IF WE HAVE TIME FOR -- I THINK WE HAVE SOME TIME FOR QUESTIONS FROM THE AUDIENCE. DOES ANYONE HAVE QUESTIONS FOR OUR TEAM? I THINK WE HAVE 10 MINUTES. WE HAVE A QUESTION UP IN THE LOST AND WE DON'T HAVE A MICROPHONE UP THERE. IS THERE? THERE IS. SHE'S GOING TO RUN DOWN. >> HI, THANK YOU FOR YOUR SPEECHES TODAY. IT WAS REALLY INFORMATIVE. MY NAME IS BETH AND I RUN A PATIENT ORGANIZATION FOR A DISEASE CALLED, LBSL WHICH IS A LEUKODYSTROPHY. IT'S A MYELIN DISORDER. AND MY DAUGHTER IS AFFECTED. AND WE HAVE A NATURAL HISTORY STUDY THAT STARTED EARLY LAST YEAR. WE ARE HAVING A HARD TIME REACHING PATIENTS, NOT BECAUSE -- THERE ARE VERY FEW, LESS THAN 100 SUPPOSEDLY IN THE WORLD, BUT WE ARE HAVING A HARD MY QUESTION TO YOU IS, WE POST TO SOCIAL MEDIA. ARE YOU EVER CONCERNED ABOUT -- I KNOW WE HAVE TOUR VERY CAREFUL WITH THE IRB APPROVAL OF HOW THINGS ARE WORDED. I HAVE FLYERS THAT WERE GIVEN TO ME BY THE RESEARCH TEAM, WHICH I POST, BUT IS THERE ANY ADVICE YOU CAN GIVE? I'M A LITTLE CONCERNED I COMMENT ON THOSE POSTS AS THE HEAD OF A PATIENT ORGANIZATION, NOT AS A PARENT, OF GOING CROSS-WISE ON THE APPROVED MESSAGING. AND IF YOU HAVE ANY ADVICE FOR THAT? OR MAYBE I SHOULDN'T EACH WORRY ABOUT IT. >> THERE IS PRIVATE MESSAGING. I ALWAYS TELL PEOPLE THEY CAN PRIVATE MESSAGE ME IF THEY HAVE A QUESTION. I GIVE OUT MY PHONE NUMBER. I PROBABLY SPEND 4-5 HOURS SOMETIMES A DAY, SOMETIMES IN THE MIDDLE OF THE NIGHT, TALKING TO PATIENTS. SO I'M ALWAYS THERE FOR THEM TO ANSWER THEIR QUESTIONS. BUT, THROUGH PRIVATE MESSAGING, YOU CAN SAY WHAT YOU NEED TO SAY AND THROUGH TELEPHONE CALL, OF COURSE YOU CAN SAY WHAT YOU NEED TO SAY THAT WAY. >> [ OFF MICROPHONE ] >> IT MIGHT BE DYING. THANK YOU. JUST AROUND THE QUESTION OF AWARENESS. I THINK IF YOU CAN KEEP THE MESSAGE VERY GENERAL ABOUT, THERE ARE THESE OPPORTUNITIES TO PARTICIPATE, AND YOU MIGHT EVEN HAVE A PREPARED -- AND THERE ARE LOTS OF THINGS, PERHAPS ON THE NCATS TOOLKIT. BUT THERE ARE PLACES TO LOOK FOR GENERAL STATEMENTS ON QUESTIONS PEOPLE SHOULD ASK WHEN THINKING ABOUT ENROLLING IN A CLINICAL STUDY OR NATURAL HISTORY DAY STUDY, OR IN A CLINICAL TRIAL. SO YOU DON'T HAVE TO ADVERTISE AND SORT OF TRY TO ENCOURAGE THEM. I THINK HELPING RAISE THE AWARE THANS THIS IS THERE, AND THEN THEY CAN GO AND TALK TO SOMEONE IN A MAN THEY'RE IS VERY IRB APPROVED AND STANDARDIZED. >> IT LOOKS LIKE WE HAVE A QUESTION IN THE BACK. >> MY NAME IS ERICH HARTMAN WITH THE -- RESEARCH FOUNDATION AND SOME OF YOU PEOPLE PROBABLY ALREADY HEARD ME ASK THIS QUESTION. BUT IT HAS TO DO WITH THE PATIENT'S RIGHTS TO THEIR NATURAL HISTORY DATA. WE HAVE BEEN FORTUNATE ENOUGH TO ALREADY HAVE TWO GENE THERAPY TRIALS UNDERWAY AND A THIRD ABOUT TO BEGIN. SO WE HAD THREE BUT ACTUALLY MORE LIKE SEVEN NATURAL HISTORY STUDIES THAT ARE UNDERWAY OR HAVE ALREADY COMPLETED, AND THAT DATA IS LOCKED. IT'S BEEN EXPLAINED TO ME THAT IF I FORM A CONSORTIUM, THAT IS REALLY FOR ANY FUTURE NATURAL HISTORY DATA. IS THERE ANY MECHANISM OR GUIDELINES FOR US TO BE ABLE TO FIND A WAY OF CONSOLIDATING WHAT IS NATURAL HISTORY STUDY THAT IS ALREADY BEEN TAKEN? IN MY CASE, I DID AN IN-DEPTH 2 1/2-YEAR STUDY EVERY 90 DAYS. TWO DAYS OF EXAMINATION EACH TIME. AND THERE IS ANOTHER GENE THERAPY TRIAL UNDERWAY AND I I WAS NOT ACCEPTED INTO THE OTHER ONE BECAUSE OF MY ADVANCED NATURE. BUT IN THIS CASE, FOR THE THIRD ONE, IT WOULD BE MUCH LESS NON-INVASIVE. AND I'VE GOT 2 1/2 YEARS OF SOLID DATA THAT I CAN'T ACCESS IN ORDER TO TRY AND GET INTO THIS OTHER TRIAL. SO I GUESS IT'S TWO-FOLD, BOTH ON A PERSONAL LEVEL AND AS A FOUNDATION OF TRYING TO CONSOLIDATE NATURAL HISTORY DATA TO HAVE A BETTER IDEA OF THE NATURAL PATHWAY OF THE DISEASE. >> I'M SORRY, I CAN'T HEAR YOU. SO I'M NOT SURE I CAN ANSWER YOU GENERALLY SO I'M GOING TO GO THROUGH SPECIFICALLY TO HOW SOMETHING LIKE THAT WOULD HAPPEN WITHIN OUR CONSORTIUM. SO IF YOU WERE ASKING ABOUT PERSONAL NATURAL HISTORY DATA, FOR EXAMPLE, HAVING GONE THROUGH THE EVALUATIONS AT MULTIPLE TIMES AT OUR INSTITUTION, THAT'S MADE AVAILABLE TO YOU AND IT'S ACTUALLY -- WE LINK IT TO YOUR ELECTRONIC MEDICAL RECORDS. SO YOU WOULD BE ABLE TO HAVE ACCESS TO THAT. IF YOU ARE TALKING FROM THE PERSPECTIVE OF A -- LET ME SEE IF I CAN SAY THIS CORRECTLY. LIKE A PHARMACEUTICAL COMPANY, FOR EXAMPLE, THAT WANTS NATURAL HISTORY DATA TO TRY TO POWER A CLINICAL TRIAL, THEN WE HAVE A PROGRAM THROUGH OUR CONSORTIUM WHICH IS CALLED OUR CLINICAL TRIALS COMMITTEE, BY WHICH YOU WOULD PRESENT YOUR IDEAS TO PEOPLE WHO ARE EXPERTS IN OUR FIELD. AS LONG AS IT WAS FELT THAT IT WAS ETHICAL BY THE GROUP AND REASONABLE, WE WOULD VOTE TO PROVIDE YOU WITH THE NATURAL HISTORY DATA THAT WOULD BE NEEDED TO HELP POWER A TRIAL. AND THEN DEPENDING UPON THE INTEREST OF THE COMMITTEE AND YOUR INTEREST AS A GROUP, WE WOULD ALSO -- WE HAVE METHODS IN PLACE FOR SETTING UP PARTNERSHIPS AND DESIGNING THE TRIAL AND PROVIDING INPUT AND DESIGNING THE TRIAL AND EVEN ULTIMATELY UNDERTAKING THE TRIAL. BUT AS AN INDIVIDUAL, WE CONSIDER THOSE RECORDS YOUR RIGHT. >> SO WE HAVE A QUESTION ON THE RIGHT. >> MY NAME IS KEITH SHAN AN. I HAVE A SON WITH ADMP SYNDROME AND WE HAVE A RELATIVELY NEW FOUNDATION THAT WAS ESTABLISHED. WE ARE HOPING TO CONVENE A CONSORTIUM OF RESEARCHERS AND FAMILIES. SO I WAS JUST WONDERING, ARE THERE FUNDING OPPORTUNITIES THROUGH THE RDCRN? OR OTHER GROUPS TO SUPPORT THAT? >> THERE ARE VARIOUS MECHANISMS. ONE MIGHT BE AN R13 WHICH IS A MEETING GRANT. IT'S A MEETING GRANT AND YOU CAN APPLY FOR FUNDS TO BRING TOGETHER A MEETING JUST LIKE YOU JUST DESCRIBED. AND YOU CAN COME TALK TO ME OR ALICE OR ANN PARISSER AFTER THIS SESSION. WE CAN SEND YOU SOME INFORMATION ON THAT. AND THAT IS OFTENTIMES THE FIRST STEP OF GETTING EVERYONE TOGETHER TO THINK ABOUT WHERE TO GO NEXT. THERE IS A QUESTION ON THE RIGHT IN THE BACK. >> TRACY, I'M HERE REPRESENTING THE MASS CELL ACTIVATION DISORDER SOCIETY, TMS. AND I'M A SOCIAL MEDIA GURU, SO I'M COMING FROM TOURISM. SO I HAVE BEEN #ING YOU GUYS GALORE BACK HERE. BUT MY QUESTION IS HEPPA LAWS. SO, I DON'T UNDERSTAND THAT. I AM REPRESENTING SANCTUARY WELLNESS CENTER AND SANCTUARY WELLNESS ON THE TRAIL. I'M OUT THERE IN SOCIAL MEDIA AND I NEED TO UNDERSTAND WHOMEVER CAN TALK TO ME AFTERWARDS, HEPPA LAWS AND I'M A GROUP FACILITATOR FOR NAVIGATING LIVES WITH GENETIC MUTATIONS. SO WHEN WE ARE TALKING ABOUT THIS AND WE ARE CROSS SHARING, CROSS POSTING, I KNOW SOME OF THAT MIGHT BE ABOVE PEOPLE THAT AREN'T SOCIAL MEDIA, BUT I'M JUST TRYING TO UNDERSTAND HIPPA LAWS AND SHARING THAT KIND OF INFORMATION AND THEN WHEN YOU HAVE LIKE A RESEARCH -- LIKE I'M IN RESEARCH DATA AND THEN I'M SHARING THAT PDF FILE WITH OTHER MEMBERS. SO JUST TRYING TO UNDERSTAND A LITTLE BIT MORE ABOUT THAT BEFORE I GET MYSELF IN TROUBLE. >> I KNOW THROUGH OUR CONSORTIUM, WE ARE TOLD, WHEN WE ARE POSTING ABOUT A TRIAL, WE HAVE TO USE IRB LANGUAGE. WE HAVE TO SHARE IRB-APPROVED POSTERS, IDEAS. OBVIOUSLY LIKE I SAID BEFORE, WHEN YOU'RE PRIVATE MESSAGING, OR YOU'RE IN A GROUP, FIRST OF ALL NOBODY FROM THE RDCRN AND NONE OF THE DOCTORS ARE PRIVILEGED TO BE IN OUR PRIVATE SUPPORT GROUPS. THAT IS NOT SAYING WE DO WHAT WE ARE NOT ALLOWED TO DO. WE STILL ONLY SHARE THE CORRECT INFORMATION; BUT I MEAN, THEY ARE ALLOWED TO TALK TO YOU. YOU'RE A PATIENT ADVOCATE. I'M ALLOWED TO PICK UP THE PHONE AND TALK TO A PATIENT AND KIND OF SHARE INFORMATION ABOUT WHAT I HAVE LEARNED. AND JUST ANOTHER THING THAT I FORGOT TO MENTION BEFORE WHEN WE WERE TALKING. ANOTHER THING THIS HAS BROUGHT TO US IS THAT WE FORMED A VERY GOOD RELATIONSHIP WITH THE PHARMA COMPANIES THAT ARE WORKING ON DRUGS FOR US. SO IF SOMEONE ASKED JUST NOW WHERE ALSO TO GET FUNDING, AFTER YOU TALKED TO THE RDCRN, YOU CAN GO TO SOME OF THE PHARMACEUTICAL COMPANIES THAT ARE WORKING ON DRUGS. THEY WANT TO HEAR THE PATIENT PERSPECTIVE. THE FDA WANTS TO HEAR THE PATIENT PERSPECTIVE. THIS IS PRETTY NEW TO ME. I HAVE BEEN DOING THIS FOR 15 YEARS AND I DON'T KNOW IF BEING PART OF CIGER AND WHAT THE RDCRN BROUGHT ATTENTION TO THE PATIENTS BUT SOMEHOW I FEEL LIKE EVERYBODY WANTS TO HEAR FROM US NOW. >> THANK YOU VERY MUCH. ONE THING I WILL SAY, AND ALICE WILL TELL YOU WHERE EVERYONE IS GOING TO BE AT, WE ARE GOING TO BE HERE AND WE'LL BE ABLE TO ANSWER QUESTIONS ALL DAY AND ALICE WILL TELL YOU SPECIFICALLY WHERE YOU CAN FIND US AND WHERE WE ARE SUPPOSED TO GO. >> THANK YOU TO OUR PANELISTS. LET'S GIVE THEM A HAND. [ APPLAUSE ] AND OUR MORNING WAS SO PACKED, I FORGOT TO MENTION THE FORMAT FOR OUR PANEL SESSIONS. WE WILL HAVE SOME TIME AT THE END. WE HAVE MICS IN THE AISLE AS WELL AS UP TOP. SO IF YOU HAVE QUESTIONS, MAKE NOTE OF THAT AND THERE IS A CHANCE AT THE END OF EACH SESSION TO ASK YOUR QUESTION TOO. BUT BEFORE WE GO ON OUR BREAK, I WANTED TO LET YOU KNOW THAT THESE PANELISTS WILL BE STICKING AROUND FOR MOST OF THE DAY. ROOM G, RIGHT ACROSS THE HALL IS SOMEWHERE YOU CAN MEET THEM TO TALK MORE EITHER AT THE BREAK NOW OR AT LUNCH OR SOMETIME DURING THE DAY. AND THE OTHER THING, OUR ZEBY AWARDS WE MENTIONED EARLIER, PLEASE GO TO ROOM AB TO SEE THE SUBMISSIONS IN PERSON. SEE THE WINNERS. THEY REALLY ARE AMAZING. I'M SO GLAD WE HAVE SOME WINNERS HERE IN PERSON. YOU DID A GREAT JOB. SO CHECK OUT THE OTHER ROOMS. WE WILL BE BACK AT 10:45 PROMPTLY. IT'S GOING TO BE DR. COLLINS, THE DIRECTOR OF NIH, WHO WILL BE SPEAKING WITH US IN ABOUT 15 MINUTES OR SO. SO SEE YOU BACK HERE SOON. FEEL FREE TO TALK TO THESE FOLKS OR COME MEET THEM IN G1 AND G2 LATER. THANK YOU. [ BREAK ] >> DR. AUSTIN: THIS IS SOMEBODY YOU ALL KNOW OR YOU SHOULD KNOW. AND IF YOU DON'T KNOW, YOU WILL KNOW IN A SECOND. BUT WHAT YOU MIGHT NOT KNOW ABOUT DR. COLLINS IS, HE ACTUALLY GOT INTO THIS BUSINESS THROUGH -- THE BUSINESS HE IS DOING YOU NO, THROUGH RARE DISEASES. HE WORKED ON RARE BLOOD DISEASES AND THEN WORKED ON ASSISTIC FIBROSIS AND THEN HUNTINGTON DISEASE AND STILL WORKS ON A NUMBER OF DISEASES INCLUDING PRACTICE JEERIA. THOUGH HE RUNS THE ENTIRE NIH, I HAPPEN TO KNOW HE HAS A VERY SOFT SPOT IN HIS HEART FOR RARE DISEASES, SCIENTIFICALLY AND MEDICALLY. SO WE ARE JUST DELIGHTED HE COULD BE HERE TO SAY A FEW WORDS. SO WELCOME, FRANCIS. [ APPLAUSE ] >> DR. FRANCIS COLLINS: THANK YOU, CHRIS AND THANK YOU TO YOUR WHOLE TEAM FOR PUTTING ON THIS REMARKABLE DAY. THE RARE DISEASE DAY GETS BIGGER EVERY YEAR AND THIS YEAR IS JUST ABSOLUTELY AMAZING THE NUMBER OF IDEAS AND PEOPLE AND PRESENTATIONS AND WAYS TO WORK TOGETHER THAT ARE HAPPENING ACROSS MULTIPLE DIFFERENT DISEASE CONDITIONS AND SCIENTIFIC AREAS, ALL OF THAT IN THE COURSE OF TODAY. AND I HOPE MANY GOOD THINGS WILL COME OUT OF THIS THAT WILL HAVE CONSEQUENCES GOING FORWARD. THAT CERTAINLY IS WHAT WE HOPED TO ACHIEVE BY BRINGING EVERYBODY TOGETHER, RAISING AWARENESS. I CAN TELL YOU THAT THE AWARENESS OF THE IMPORTANCE OF RARE DISEASES IS STEADILY GROWING. IT CERTAINLY IS GROWING AT NIH WHERE VIRTUALLY ALL OF OUR 27 INSTITUTES AND CENTERS HAVE SOME INVESTMENT IN RARE DISEASE RESEARCH, AND THEY SEE IT AS A REMARKABLE MOMENT, SCIENTIFICALLY TO, MAKE PROGRESS, THAT MOST OF US DIDN'T REALLY DREAM COULD HAPPEN IN THIS TIMEFRAME, BUT NOW IT IS. I HOPE YOU'RE GETTING A SENSE OF THAT TODAY IN TERMS OF THE TRAJECTORY, FORWARD MOTION IN BEING ABLE TO UNDERSTAND HOW TO DIAGNOSE AND TREAT THESE 7000 DISORDERS THAT WE CALL RARE DISEASES. WE HAVE A LONG WAY TO GO. WE STILL DON'T HAVE TREATMENTS FOR NEARLY ENOUGH OF THOSE. BUT THE PATH FORWARD SEEMS NOW TO BE CLEARER THAN IT HAS BEEN, AT LEAST IN MY PERSPECTIVE, OVER THE LAST 30 YEARS. AND THE ABILITY TO BEGIN TO TACKLE THINGS MANY DISEASES AT A TIME, AS CHRIS WOULD SAY, INSTEAD OF TRYING TO HAVE A COMPLETE FOCUS ON JUST THE MINUTIA OF EVERY DISEASE. WE FIGURE OUT HOW TO BRING TOGETHER APPROACHES THAT CAN BE SCALED AND THAT CAN TACKLE MULTIPLE DISEASES WITHOUT THE NEED TO HAVE QUITE THEREFORE THE SAME LONG, TIME LINES AND DEEP NEED FOR RESOURCES. ALSO TELL YOU THAT THE CONGRESS OF THE UNITED STATES IS INCREASINGLYIA WEAR OF AND SYMPATHETIC WITH THE IMPORTANCE OF NIH SPENDING MONEY ON RARE DISEASES. MANY OF US WERE ON THE HILL ON TUESDAY NIGHT FOR A RECEPTION THAT WAS SPONSORED BY THE CHILDREN'S INN, AND MANY OF THE KIDS AT THE CHILDREN'S INN HAVE RARE DISEASES, INCLUDING THE FAMILY THAT WAS THERE AND FEATURED FROM MISSOURI, WHOSE SON, ABRAM, HAS AN AUTO-INFLAMMATORY DISEASE THAT THAT VERY DAY HAD JUST RECEIVED NEW INFORMATION FROM DNAINAL STAYS MIGHT INDICATE WHAT THE DIAGNOSIS WAS -- DNA ANALYSIS. AND AT THAT RECEPTION, THERE WERE 20 MEMBERS OF CONGRESS WHO TURNED UP. THEY WERE FROM BOTH PARTIES. THEY WERE FROM BOTH HOUSES. WE HAD PRESENTATIONS AND SPEECHES MADE BY FOUR MEMBERS. AND THE UNANIMOUS SENSE YOU HAD WAS THAT THIS IS -- ONE OF THOSE RARE ISSUES THAT OUR CONGRESS AGREES, WHICH IS MEDICAL RESEARCH IS A VALUABLE INVESTMENT BY THE FEDERAL GOVERNMENT AND RARE DISEASES IS A VALUABLE PART OF THAT. SO I HOPE YOU FEEL SOME ENCOURAGEMENT BY THAT, GIVEN HOW IN MANY OTHER WAYS WHAT IS GOING ON IN THIS TOWN SEEMS SO DYSFUNCTIONAL. NOBODY DISAGREE THAT IS THIS PARTICULAR AREA IS GOING REALLY EXCITING DIRECTIONS AND IS REMARKABLE IN TERMS OF ITS PROMISE AND IS WORTHY OF SUPPORT. AND I CAN TELL YOU FROM MY PERSPECTIVE, AS THE NIH DIRECTOR, BECAUSE I DO GET THE CHANCE TO TALK TO MEMBERS OF CONGRESS QUITE FREQUENTLY, IT IS OFTEN A RARE DISEASE THAT I START OUT WITH TRYING TO TELL THEM A STORY OF A CIRCUMSTANCE WHERE SOMETHING THAT USED TO BE REALLY IMPOSSIBLE TO UNDERSTAND IS NOW YIELDING UP THE SECRETS AND TREATMENTS ARE EMERGING FOR KIDS AND ADULTS THAT WE PREVIOUSLY DIDN'T KNOW WHAT TO DO FOR. ONE THAT I TALK ABOUT A LOT RIGHT NOW IS SICKLE CELL DISEASE. SICKLE CELL MAY BE NOT AS RARE AS MANY OF THE CONDITIONS THAT YOU ALL REPRESENT, BUT STILL, ONLY 100,000 PEOPLE IN THIS COUNTRY AND YOU ARE GOING TO SEE IN THE NEXT FEW MONTHS, INCREASING NUMBERS OF REPORTS WHERE GENETIC THERAPY APPLIED TO THIS FIRST MOLECULAR DISEASE DESCRIBED MORE THAN 100 YEARS AGO AND KNOWN TO BE DUE TO A SINGLE MISSPELLED LETTER IN THE GENOME, THOSE THERAPIES ARE STARTING TO WORK, NOT JUST AS TREATMENTS BUT AS CURES. WATCH 60 MINUTES SOMETIME THIS MONTH IN MARCH, AND YOU'LL SEE A DRAMATIC EXAMPLE OF HOW THAT IS COMING FORWARD. I'M REALLY EXCITED ABOUT THAT BECAUSE THE APPROACH THAT WAS TAKEN THERE IS ONE OF THOSE WHICH COULD FIT OTHER DISEASES AS WELL. A GENETIC APPROACH. WHEN WE SEE THAT HAPPENING FOR SICKLE CELL DISEASE, OR FOR SPINAL MUSCULAR ATROPHY AND MAYBE SOON MUSCULAR DYSTROPHY, THE EXCITEMENT OF HAVING THAT KIND OF OUTCOME CANNOT BE OVERSTATED, BUT PARTICULARLY SO WHEN WE SEE THAT THAT STRATEGY MIGHT THEN BE APPLIED TO HUNDREDS OF OTHER DISORDERS. THAT'S ONE OF THE THINGS THAT WE DON'T WANT TO MISS THE CHANCE TO SEE AND ENCOURAGE. NCATS IS VERY MUCH IN THAT MINDSET AND LEADING MANY OF US TO THINK ABOUT IT IN THAT WAY. THE MANY DISEASES AT A TIME. ANOTHER PROGRAM THAT I WANT TO MENTION TO YOU IS ONE FUNDED BY THE COMMON FUND, WHICH IS THE PART OF NIH THAT REPRESENTS OUR VENTURE CALL TALL SPACE WHERE WE CAN TRY OUT THINGS THAT ARE HIGH RISK BUT POTENTIALLY HIGH-REWARD THAT NO SINGLE INSTITUTE WOULD HAVE HAD THE RESOURCES OR MOTIVATION TO TACKLE BUT IF THEY SUCCEED, IT COULD IN FACT HAVE IMPACT ON MANY DIFFERENT DISEASES AND ACROSS ALL OF NIH. AS WE HAVE SEEN THE PROMISE OF GENE EDITING USING THIS REMARKABLE SYSTEM CALLED CHRIS PER KAS AND OTHER THINGS LIKE THAT -- CRISPR/CAS -- IT SEEMS LIKE WE ARE AT A REAL JUNCTURE TO BRING THAT INTO THERAPEUTIC PLACES THAT PREVIOUSLY HAVEN'T BEEN REACHABLE, TO GO RIGHT TO THE HEART OF A GENETIC DISORDER AND INSTEAD OF TRYING TO CORRECT THE CONSEQUENCES IN TERMS OF SYMPTOMS OR THE ABNORMAL PROTEIN THAT GETS GENERATED OR THE RN. THAT IS MISSPELLED, LET'S GO TO WHERE THE FUNDAMENTAL MISSPELLING IS IN THE DNA AND SEE IF THAT IS POSSIBLE TO DO SOMETHING ABOUT. AND THAT IS WHAT IS HAPPENING FOR A FEW CONDITIONS IN THE RESEARCH ARENA AND AGAIN SICKLE CELL IS ONE OF THEM, DUE SHEN MUSCULAR DYSTROPHY IS ANOTHER. THE REAL CHALLENGE IF YOU HAVE A DISORDER THAT EFFECTS SOME PART OF THE BODY THAT YOU CAN'T VERY WELL TAKE THE CELLS OUT AND TREAT THEM AND PULT THEM BACK. YOU HAVE TO DO THIS IN WHAT WE WOULD CALL-IN VIVO. HOW DO WE COME UP WITH A SYSTEM TO DELIVER THE APPARATUS TO DO THAT ELEGANT KIND OF SEARCH FOUNDATION FIND THE MISSPELLING AND FIX IT IN SOMEBODY SAFELY AND EFFECTIVELY? THAT'S IN-VIVO GENE EDITING. WE NOW HAVE A WHOLE PROGRAM, 190 MILLION DOLLARS GOING INTO IT. FIRST MEETING OF THE INVESTIGATORS JUST HAPPENED A COUPLE OF MONTHS AGO. CALLED THE SOMATIC CELL GENE EDITING PROGRAM. SOMATIC CELL, WE ARE NOT TALKING ABOUT EMBRYOS HERE. WE ARE NOT IN THE BUSINESS OF MODIFYING HUMAN EMBRYOS FOR THE PURPOSES OF REPRODUCTION, BUT IF YOU HAVE A GENETIC DISORDER AND YOU KNOW IT AFFECTS THE LIVER OR BRAIN OR THE MUSCLES, AND YOU HAVE A MEANS OF DELIVERING VERY EFFICIENTLY, THIS APPARATUS WITH THE CORRECTED OPPORTUNITY TO FIX THAT MISSPELLING, THAT SEEMS LIKE SOMETHING THAT COULD BE SCALED. THAT'S WHAT THIS PROGRAM IS ABOUT. YOU'RE GOING TO BE HEAR BEING THAT IN THE NEXT YEAR OR TWO AS THIS GROUP COMES TOGETHER TO FIGURE OUT HOW TO ACHIEVE THAT DELIVERY PROBLEM IN A FASHION THAT IS SAFE AND EFFECTIVE, STARTING WITH ANIMAL MODELS BUT QUICKLY AS WE CAN MOVING TOWARDS HUMAN APPLICATIONS. SO I GUESS WHENEVER I COME TO A CONVERSATION ABOUT RARE DISEASES, I DO OFTEN THINK ABOUT WAYS IN WHICH PROGRESS HAS BEEN MADE AND IT'S OF COURSE THE NATURE OF ALMOST ALL OF US TO THINK PARTICULARLY ABOUT CONDITIONS THAT WE HAD THE CHANCE TO WORK ON AND PEOPLE WHO HAVE INFLUENCED US BY THE WAY IN WHICH THEY COURAGEOUS FOLKS THAT THEY HAVE TAKEN PART IN A WIDE VARIETY OF CLINICAL APPLICATIONS, NOT ALL OF WHICH HAVE WORKED AND NOT ALL OF WHICH WE ARE PROUD OF BUT ALL OF WHICH WERE CIRCUMSTANCES WHERE WE AGREED WITH OUR PARTICIPANTS TO TRY TO TACKLE SOMETHING DIFFICULT. IN MY BLOG TODAY, I'M SURE YOU ALL READ MY BLOG EVERY TUESDAY AND THURSDAY. [ LAUGHS ] I WRITE ABOUT A COURAGEOUS YOUNG WOMAN WITH JOBES SYNDROME. IF YOU GO TO NIH WEBSITE AND GO TO THE DIRECTOR'S PAGE, YOU CAN PULL UP THIS STORY. AND SHE, UNDER THE CARE OF ALEXANDER FREEMAN AND STEVE HOLLAND HERE IN THE INTRAMURAL PROGRAM AT NIH, HAS GONE THROUGH AN AMAZING SERIES OF EXPERIENCES, BUT HAS MADE IT HER TASK TO TEACH THE WORLD ABOUT THIS. AND HER PODCAST CALLED, MADE VISIBLE, TELLS STORIES ABOUT HERSELF AND OTHERS WITH RARE DISEASES. SO HAVE A LOOK AT THAT BLOG. JOBES SYNDROME IS NOT CALLED JOBS SYNDROME FOR IDEAL REASONS. THIS IS JOB OF THE BIBLE. SO SOMEBODY FROM THAT SYNDROME MUST BE GOING THROUGH A PRETTY AMAZING SERIES OF STRESSES AS SHE HAS, AND YET SHE IS USING HER EXPERIENCE TO EACH OTHER'S. HAVE A LOOK AT HARPER SPIRO. AND I WANT TO SAY CONGRATULATIONS TO THE WINNIN ENTREES IN THE CREATIVE EFFORT TO RAISE AWARENESS. THE ART WORK AND THE RARE DISEASES ARE NOT RARE CHALLENGE. I LOOKED AT ALL OF THOSE. THOSE ARE PRETTY PHENOMENAL. I WAS ALSO OVER IN CONFERENCE ROOM C, IF YOU HAVE NOT BEEN THERE, AND LOOKED AT THE PORTRAITS OF KIDS AND YOUNG ADULTS WITH GENETIC DISORDERS AND OTHER RARE DISEASES, AS PART OF THE BEYOND THE DIAGNOSIS PROGRAM THAT PATRICIA AND HER TEAM HAVE BROUGHT HERE. IF YOU HAVEN'T WANDERED INTO CONFERENCE ROOM C, LOOK AT THOSE. THEY ARE QUITE INSPIRING AND QUITE MOVING AND QUITE BEAUTIFUL IN THE WAY IN WHICH THEY PORTRAY THE REALITY OF WHAT KIDS WITH THESE CONDITIONS ARE. THEY ARE NOT DEFINED BY THEIR DIAGNOSIS. THEY ARE ALL CLEARLY KIDS WITH PERSONALITIES AND A LOT TO CONTRIBUTE. AGAIN, WHEN I THINK ABOUT RARE DISEASES, I DO THINK ABOUT THE OPPORTUNITY THAT I HAD NOW OVER THE COURSE OF MORE THAN 15 YEARS TO WORK ON ONE OF THE RAREST, AND THAT IS HUTCHINSON GUILFORD PROGERIA SYNDROME, THE CONDITION WHICH CAUSES KIDS WHO APPEAR NORMAL AT BIRTH TO AGE AT ABOUT SEVEN TIMES THE NORMAL RATE AND WHO WITHOUT INTERVENTION DIE AT AGE 12-13 OF HEART ATTACKS OR STROKES JUST LIKE YOU EXPECT OF SOMEBODY IN THEIR 80s OR 90s. AND YET THEIR INTELLECTUAL DEVELOPMENT IS ENTIRELY NORMAL, IF ANYTHING IT IS EXCEPTIONAL. I HAD THE CHANCE TO TAKE CARE OF A PATIENT WITH PROGERIA WAY BACK IN THE 1980S WHEN I WAS A FELLOW IN TRAINING AND I WAS ASSIGNED A PATIENT WHO CARRIED THAT DIAGNOSIS AND I WAS FASCINATED BITHE STORIES SHE WOULD TELL ME. THIS WAS MEG CASEY, ABOUT HER EXPERIENCE. AND FRUSTRATED THAT WE KNEW SO LITTLE ABOUT IT. MEG CASEY HAD RATHER SINGLE-HANDEDLY RENDERED HER LITTLE TOWN OF MILFORD, CONNECTICUT, ACCESSIBLE TO ANYBODY WITH A DISABILITY, LONG BEFORE THE AMERICANS WITH DISABILITIES ACT THERE WAS MEG CASEY IN MILFORD, AND SHE MADE SURE THAT THERE WAS NO ESTABLISHMENT THAT COULD NOT BE ACCESSED BY PEOPLE WITH LIMITATIONS SUCH AS HERS. SHE WAS ALL OF ABOUT 3 FEET TALL. BUT SHE COULD CURSE LIKE A SAILOR AND YOU DIDN'T WANT TO MESS WITH HER. [ LAUGHS ] AND STOW I THOUGHT AT THE TIME, BOY, THIS IS A DISORDER THAT SOMEBODY OUGHT TO WORK ON. I HOPE SOME DAY THAT HAPPENS. AND THEN SOME 15 YEARS LATER, AT A RECEPTION HERE IN DC, I WAS AT THAT TIME LEADING THE GENOME PROJECT; I ENCOUNTERED A YOUNG MAN WHO IS AN EMERGENCY ROOM PHYSICIAN BUT DOING A WHITE HOUSE FELLOWSHIP AND HE SAID, I HAVE A SON WITH A RARE DISEASE THAT WAS JUST DIAGNOSED AND YOU PROBABLY NEVER HEARD OF IT BUT MAYBE YOU COULD POINT ME IN THE DIRECTION OF WHO MIGHT BE ABLE TO HELP ME. HE SAID MY SON HAS PROGERIA. HIS SON AT THAT POINT WAS THREE YEARS OLD. THAT WAS SAM BURNS, HIS DAD, SCOTT, HIS MOM, LESLIE, WERE BOTH PHYSICIANS. BOTH VERY INTERESTED IN TRYING TO SEE WHAT COULD BE LEARNED ABOUT THIS CONDITION THAT THEIR SON HAD, WHICH VIRTUALLY NOT MUCH WAS KNOWN T SEEMED TO STRIKE LIKE A BOLT FROM THE BLUE. THERE WERE NO FAMILIES WITH MORE THAN ONE AFFECTED CHILD. NONE OF THE KIDS HAD EVER LIVED LONG ENOUGH TO HAVE THEIR OWN CHILDREN SO WE COULDN'T DETERMINE WHAT THE MODE OF INHERITANCE WAS. IT SEEMED LIKE IT MIGHT BE A GENETIC DISORDER BUT THERE WAS NO WAY TO BE SURE. SO I AGREED TO HELP THEM PUT TOGETHER A WORKSHOP TO TRY TO GET PEOPLE INTERESTED IN THIS CONDITION, PARTICULARLY AGING SCIENTISTS WHO MIGHT BE, NOT BECAUSE THEY WERE AGE AGING THEMSELVES, BUT BECAUSE THEY STUDIED AGING -- WHO MIGHT SEE THIS AS A WINDOW INTO UNDERSTANDING A PROCESS THAT IS NOT THE RAREST OF ALL DISEASES, BUT THE COMMONEST OF ALL EXPERIENCES, NAMELY WE ARE ALL AGING. AND THAT KIND OF WORKED AND A FEW PEOPLE GOT INTERESTED. AND THEN I GOT REALLY INTERESTED AND I HAD A POSTDOC IN THE LAB LOOKING FOR A PROJECT AND WE DECIDED, LET'S JUST SEE IF THERE IS SOME WHAT I TO FIGURE OUT WHAT THIS IS. AND WITH A COMBINATION OF ENERGY AND SERENDIPITY AND REALLY GOOD POSTDOC WITHIN THIS SPACE OF A YEAR, WE DISCOVERED THAT THIS WAS DUE TO A SINGLE LETTER IN THE DNA CODE THAT WAS MISSPELLED. AND IT WAS ALWAYS DE NOVO THAT IT AROSE FOR THE FIRST TIME IN THAT CHILD. THE PARENT'S DNA WERE NORMAL BUT EVERY CHILD WE LOOKED AT THAT HAD PROGERIA, HAD THIS PARTICULAR LETTER THAT SHOULD HAVE BEEN A C AND IT WAS A T, IN THE MIDDLE OF THE CODING REGION OF A GENE THAT WAS CODING FOR A PROTEIN THAT WAS PART OF THE NUCLEUS, PART OF THE STRUCTURE OF THE NUCLEUS; YOU KNOW THE NUCLEUS LOOKS LIKE THAT BEAUTIFUL OVAL STRUCTURE. WHAT HOLDS IT IN THAT POSITION? THIS PROTEIN WAS A BIG PART OF THAT. THAT MEANT NA WE COULD GO TO SCHOOL AND ALL THE PEOPLE WHO STUDIED THAT PROTEIN AND PRETTY QUICKLY FIGURE OUT WHY THIS MISSPELLING WAS CAUSING THE PROBLEM THAT IT DID. IN THIS INSTANCE, BECAUSE THERE WAS ALL THAT INFORMATION, AND IT LED US IN THE DIRECTION TO TRY SOME THERAPEUTICS THAT HAD BEEN DEVELOPED FOR ENTIRELY DIFFERENT PURPOSES, NAMELY FOR CANCER, IT TURBED OUT THESE CANCER DRUGS HADN'T WORKED AT ALL FOR CANCER BUT THEY HAD THE RIGHT PROPERTIES TO WORK FOR PROGERIA AND WITHIN FOUR YEARS AFTER KNOWING THE CAUSE, A CLINICAL TRIAL GOT STARTED IN 2007. THAT CLINICAL TRIAL WENT ON FOR THREE YEARS AND CAREFULLY LOOKING AT ALL THE DATA, AND NOW THAT WE HAVE GOT A LOT MORE DATA BECAUSE THESE KIDS HAVE STAYED ON THE DRUG, IT'S CLEAR THAT THIS HAS EXTENDED THEIR LIFESPAN BY AT LEAST FIVE YEARS. AND THAT IS ENORMOUSLY EXCITING BUT IT'S NOT GOOD ENOUGH. WE WANT TO SEE ACTUALLY SOMETHING THAT COULD RESULT IN A ALMOST NORMAL LIFESPAN BECAUSE THAT IS JUST HOW BOLD I THINK WE ALL HAVE TO BE IN THIS CIRCUMSTANCE. SO NOW, AS A FOLLOW ON TO THAT, WE ARE ENGAGED WITH THE PROGERIA RESEARCH FOUNDATION. THIS IS A COLLABORATION LIKE THE MODEL YOU HEARD DESCRIBED IN THE PANEL THAT CAME BEFORE WHERE WE BRING TOGETHER NIH, SOME OTHER ACADEMIC RESEARCHERS AND BOSTON CHILDREN'S HOSPITAL, THE PROGERIA RESEARCH FOUNDATION, AND BIOTECH COMPANIES; IN OUR CASE SER WANTA, WORKING ON AN APPROACH WHERE WE ARE TRYING TO AFFECT THE ABNORMAL RNA AND DIAL IT BACK. AND VERY RECENTLY ALSO MOVED INTO THE AREA OF JEAN EDITING, WORKING WITH DAVID LOU AT THE BROAD INSTITUTE TO TRY TO SEE WHETHER WE COULD DOT ULTIMATE THAT I WAS TALKING ABOUT A BIT AGO WHERE YOU GO IN AND CORRECT THAT MISSPELLING IN THE MOST VULNERABLE TISSUES IN THE CARDIOVASCULAR SYSTEM. NOW THAT IS BOLD INDEED BUT IT'S NOT COMPLETELY OUT OF REACH AT THIS POINT. SO I TELL YOU ALL OF THAT BECAUSE I THINK IT IS AN EXAMPLE OF THE WAY IN WHICH OVER THE COURSE OF A DECADE AND A HALF, COULD NOT HAVE DREAMED WOULD BE POSSIBLE, AND I WANT THAT TO HAPPEN FOR ALL OF THE CONDITIONS THAT YOU ALL REPRESENT HERE AND I THINK INCREASINGLY, WE CAN BE OPTIMISTIC THAT THAT IS POSSIBLE. BUT IT TAKES A LOT OF ENERGY, A LOT OF RESOURCES, A LOT OF COMMITMENT, WHICH IS WHAT RARE DISEASE DAY IS ALL ABOUT. AND I THINK AS YOU ALL HAVE THE CHANCE TO GET OUT THERE AND TELL YOUR STORIES, YOU HAVE POWERFUL STORIES TO TELL AND WE HAVE A SCIENTIFIC MOMENT RIGHT NOW THAT IS READY TO MAKE THIS KIND OF RAPID PROGRESS. IF THERE WAS EVER A TIME WHERE BRINGING TOGETHER RARE DISEASES AND SCIENTIFIC OPPORTUNITIES MAKES A COMPELLING CASE, THIS IS IT. BUT IT'S PARTICULARLY SO WHEN IT'S ATTACHED TO REAL PEOPLE. THAT'S WHY I'M REALLY GLAD THIS RARE DISEASE DAY HAS THAT KIND OF FOCUS. SO I JUST WILL FINISH WITH SAYING A WORD ABOUT SAM BURNS BECAUSE SAM, WHO WAS THREE YEARS WITHHOLD I MET HIS MOM AND DAD, WAS ABLE TO TAKE PART IN THOSE CLINICAL TRIALS AND DID IN FACT BENEFIT FROM THEM. BUT I'M SAD TO SAY WE LOST SAM AT AGE 17 A COUPLE OF YEARS AGO. HIS MOM AND DAD CONTINUED TO BE UTTERLY DEVOLTED TO THIS ISSUE. THEY ARE PROBABLY ONLY ABOUT 200 KIDS WITH PROGERIA IN THE WHOLE WORLD AND THEY ARE ALL SCOTT AND LESLIE'S KIDS NOW IN THEIR MINDS AND I GUESS THEY ARE MINE TOO, THAT WE ARE DEVOLTED TO FINDING ANSWERS FOR THEM. AND I WOULD JUST LEAVE YOU WITH SAM BURNS RECOMMENDATIONS ABOUT HOW WE SHOULD ALL FOCUS IN THIS CIRCUMSTANCE. HERE IS A KID WHO HAD AN AWFUL LOT OF CHALLENGES AND NEVER LOST HIS DESIRE TO MAKE EVERY DAY COUNT. SO SAM BURNS PHILOSOPHY FOR A HAPPY LIFE. FIRST, BE OKAY WITH WHAT YOU ULTIMTELY CAN'T DO BECAUSE THERE IS SO MUCH YOU CAN DO. SECOND, SURROUND YOURSELF WITH PEOPLE YOU WANT TO BE AROUND. OKAY, WE ARE DOING THAT HERE. THIRD, KEEP MOVING FORWARD. WELL, THAT'S ABSOLUTELY WHAT WE ARE DETERMINED TO DO AS PART OF THIS. AND FOURTH, NEVER MISS A PARTY IF YOU CAN HELP IT. [ LAUGHS ] THIS IS OUR RARE DISEASE PARTY! LET'S HAVE A GREAT DAY TODAY! THANK YOU ALL! [ APPLAUSE ] >> THANK YOU DR. COLLINS. THAT WAS REMARKABLE. BEFORE I MOVE ON TO SESSION TWO, I HAVE A COUPLE OF ANNOUNCEMENTS. IF YOU ARE UP AGAINST THE BACK WALL, I'M GOING TO KINDLY ASK YOU TO COME FORWARD INTO A SEAT OR IF YOU WANT TO HANG OUT ON THE BACK, YOU CAN ALSO SIT UP TOP. IT'S AGAINST THE FIRE CODES IF YOU'RE LEANING UP AGAINST THE WALL AND CLOSE TO THE DOORS SO PLEASE COME FORWARD OR SIT UP TOP. THAT IS ALSO OKAY. WE DON'T WANT TO GET IN TROUBLE HERE. THE OTHER IS, IMMEDIATELY FOLLOWING THIS, IF YOU'RE INTERESTED IN ONE OF THE CLINICAL CENTER TOURS ACROSS CAMPUS, WE HAVE SPECIAL SHUTTLES FOR YOU GUYS RESERVED FOR TODAY'S EVENT. PLEASE SIGN UP AT THE REGISTRATION DESK. WE ARE PLANNING TO HAVE AT LEAST ONE SHULTZ HEAD OUT FROM HERE AT 12 P.M. SO YOU CAN GET THE FULL EXPERIENCE OF THE TOUR BEFORE YOU COME BACK TO NATCHER, TO THIS BUILDING. THAT'S A REMINDER ABOUT THE CLINICAL CENTER TOURS IF YOU'RE INTERESTED. NEXT WE WILL MOVE ON TO OUR SESSION NUMBER 2 FOR THE DAY. THE MODERATOR FOR THIS SESSION IS DR. ERICH SID. ERICH JOINED NCATS AS A PRESIDENTIAL MANAGEMENT FELLOW IN THE OFFICE OF RARE DISEASES RESEARCH IN 2017. HE WORKS ON THE RARE DISEASES REGISTRY PROGRAM ALSO KNOWN AS RADAR, AND YOU'RE GOING TO HEAR A LOT MORE ABOUT THAT SHORTLY -- THE NCATS TOOL AND IT OUR GARD INFORMATION CENTER WHICH YOU HEARD ABOUT THIS MORNING. ERICH ALSO COORDINATES NCATS COLLABORATIONS INVOLVING PATIENTS, PATIENT GROUPS AND OTHER AGENCIES. DR. SID RECEIVED HIS MD AND MHA DEGREES FROM THE UNIVERSITY OF WASHINGTON. PLEASE JOIN ME IN WELCOMING HIM TO THE STAGE. [ APPLAUSE ] >> DR. SID: I'D LIKE TO ASK IF THE PANELS COULD COME UP AS WELL. YOU CAN GRAB YOUR SEATS. SO OUR SESSION IS TITLED, THERE IS POWER IN NUMBERS, HARNESSING PATIENT DATA THROUGH REGISTRIES. I WANT TO PIGGYBACK ON ONE OF THE COMMENTS THAT DR. COLLINS MENTIONED, WHICH IS REALLY THERE IS POWER IN PATIENT STORIES. ALL OF US KNOW THIS. ESPECIALLY WITHIN THE RARE DISEASE COMMUNITY, I THINK THE STORIES THAT WE HAVE HERE, SPEAKING BOTH OF A CARRIER OF A RARE DISEASE MYSELF AND WORKING IN NIH AND HAVING SEEN PATIENTS WITH RARE DISEASE, OFTENTIMES THE KEY DIFFERENCE WITHIN THE RARE DISEASE COMMUNITIES IS REALLY THE UNIQUE STORIES WE HAVE TO BRING, ESPECIALLY I THINK NOW,A DAYS IN THIS AGE OF SOCIAL MEDIA, MORE AND MORE WORD ABOUT THE STORIES THAT YOU HAVE TO OFFER OF YOURSELF AND YOUR FAMILY, OF YOUR LOVED ONES, HAVE BEEN GETTING OUT THERE INTO THE WORLD. WE SEE A LOT OF POWER IN THAT IN TERMS OF BOTH ADVOCACY IN THE CLINIC, OFTEN TIMES ALSO IN TERMS OF HOW WE THINK ABOUT RESEARCH AND EVEN REGULATORY DECISIONS. SO, THE QUESTION THAT WE REALLY WANT TO DISCUSS TODAY GOING IN LINE WITH THAT IS, HOW DO WE LEVERAGE WHAT YOU'RE DOING WITHIN THOSE STORIES AND GIVING THE STORIES YOU PROVIDE TO THE COMMUNITY AT LARGE, AND THINK ABOUT THAT WITHIN RESEARCH. OFTENTIMES, WE DESCRIBE THINGS THROUGH REGISTRIES AND THEY HAVE MANY DIFFERENT MEANINGS TO MANY DIFFERENT PEOPLE. SO I DECIDED TO REFER TO ONE FROM OUR COLLEAGUES AT THE AGENCY FOR HEALTH CARE QUALITY AND RESEARCH, AHRQ, REGISTRIES ARE ORGANIZED SYSTEMS TO COLLECT UNIFORM INFORMATION -- REALLY JUST A FANCIY WAY OF SAYING DATA -- WITH A DEFINED PURPOSE, A TARGET POPULATION, A METHOD AND THEY ARE OFTENTIMES USED AS A TRANSLTIONAL TOOL. WHAT DOES THAT MEAN? WELL I WOULD SAY THAT IN MANY WAY AND YOU'LL FIND OUT MORE AS WE GO INTO OUR PANELISTS, REGISTRIES ARE A WAY FOR PATIENT ADVOCACY GROUPS TO TAKE THE STORIES THEY HAVE WITHIN THEIR COMMUNITIES AND USE THAT AS A TOOL TO THEN DESCRIBE THEM IN A FASHION THAT RESEARCHERS, REGULATORY FOLKS, DECISION-MAKERS, CAN UNDERSTAND AND INTERPRET. OFTENTIMES WHEN WE TALK ABOUT THE DIFFERENT TYPES OF DATA THAT WE ARE COLLECTING, WE CAN TALK ABOUT WHO IS COLLECTING THE DATA. IF IT'S COMING FROM THE PARTICIPANT OR THE PATIENT THEMSELVES? IS IT CONTACT INFORMATION, DEMOGRAPHICS? BACKGROUND HISTORY? OR BEING COLLECTED BY A CLINICIAN? IS IT MEDICAL DATA? THE DIFFICULT SOMETIMES WITHIN THE PATIENT ADVOCACY COMMUNITY IS, WHAT DOES THAT ALL MEAN? DOES EACH OF THESE DIFFERENT TYPES OF INFORMATION IN EACH OF THESE DIFFERENT TYPES OF DATA, DO THEY HAVE THE SAME QUALITY? THE SAME VALUE? CAN THEY BE USED IN THE SAME METHOD? IN MANY WAYS DATA ENABLES RESEARCH. WHEN WE TALK ABOUT PATIENT EXPERIENCE DATA -- AND I'M USING THIS DEFINITION FROM THE COLLEAGUES AT THE FDA AND THEIR PATIENT-FOCUSED DRUG DEVELOPMENT WORKSHOPS, AND THEY HAVE A GLOSSARY ON THIS -- WE ARE TALKING ABOUT PATIENT EXPERIENCES, PERSPECTIVES, NEEDS, AS WELL AS PRIORITIES. WE ARE TALKING ABOUT THEIR SYMPTOMS AND AS TINA AND THE FIRST SESSION WERE DESCRIBING, WE ARE TALKING ABOUT THE NATURAL HISTORY OF THAT DISEASE. WE ARE TALKING ABOUT THE FUNCTIONING AND QUALITY OF LIFE AS WELL AS ANY VIEWS ON TREATMENTS, OUTCOMESES AND PREFERENCES. REGISTRIES TAKE ALL OF THESE DIFFERENT STORIES THAT YOU HAVE IN YOUR PATIENT COMMUNITY AND HELP US GATHER THAT IN A UNIFORMED WAY INTO DATA TO THEN INTERPRET IN A WAY WE CAN UTILIZE THEM FOR RESEARCH. SO, WHAT WE HAVE GATHERED FOR YOU TODAY WITH THIS PANEL IS, A NUMBER OF ALL STARS. WE ARE GOING TO START WITH DR. DANNY PORTER, A CLINICAL DIRECTOR AND A SENIOR INVESTIGATOR HERE AT THE NIH'S NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENTS OR NICHD. AFTER THAT, WE'LL BE FOLLOWING WITH OUR NEW DIRECTOR OF THE OFFICE OF ORPHAN PRODUCT DEVELOPMENT AT THE FDA, JANET. AND THEN AFTER THAT, WE HAVE A PATIENT ADVOCATE, EMILY MULLIGHAN, WHO HER PATIENT ADD VOCATION ORGANIZATION WAS ONE OF THE PARTNERS WITH NCATS -- ADVOCACY ORGANIZATION -- WHEN WE DID OUR INITIAL FORA IN SUPPORTING PATIENT REGISTRY ALMOST NINE YEARS AGO AND THEN LASTLY, WE HAVE A CLINICIAN INVOLVED WITH THE -- YOU HEARD EARLIER IN THE FIRST SESSION, THE RDCRN. SHE IS A CHAIRPERSON FOR THE BOARD AT THE ALPHA 1 FOUNDATION AS WELL AS A PROFESSOR AT COLUMBIA UNIVERSITY MEDICAL CENTER. SO WITH THAT IN MIND, I'D LIKE TO START WITH OUR FIRST PRESENTER, DANNY. >> DENNY PORTER: SO I WANT TO START OUT, WE WERE ALL ON A CALL ABOUT TWO WEEKS AGO, AND IT QUICKLY BECAME APPARENT THAT THE DIFFERENT MEMBERS OF THIS PANEL HAD DIFFERENT CONCEPTS ABOUT WHAT NATURAL HISTORY IS AND WHAT A REGISTRY IS. AND THAT'S PROBABLY TRUE OF THIS WHOLE ROOM. PARENTS AND PATIENTS HAVE ONE VIEW. PATIENT SUPPORT ORGANIZATIONS HAVE ANOTHER. PHYSICIANS HAVE ONE. RESEARCHERS HAVE ANOTHER. AND YOU HAVE THE REGULATORY AGENCIES WHICH HAVE A TOTAL DIFFERENT CONCEPT OF WHAT THEY NEED. SO, I JUST WANT TO GIVE A COUPLE OF EXAMPLES HERE TO START THIS OFF. THIS JUST HAPPENS TO BE DATA FROM A RARE DISORDER CALLED NEHMAN PICK DISEASE TYPE C. BUT IT COULD APPLY TO ANY DISORDER. WHAT WE WERE ABLE TO DO HERE WAS TO GO TO PATIENT-OTHER 72ED WEBSITES WHERE THEY HAD POSTED A MEMORIAL WALL, AND EXTRACT SURVIVAL DATA ON 338NPC INDIVIDUALS. THIS IS PROBABLY THE LARGEST COHORT EVER ASSEMBLED OF THIS RARE DISEASE. WE CAN EXTRACT INFORMATION FROM THAT. WE CAN TELL THAT WE REALLY NEED TO TREAT EARLY IF WE ARE GOING TO IMPACT THIS DISEASE. WE CAN TELL IT IS VERY HETEROGENOUS. WE CAN TELL ON THE RIGHT THAT MALES AND FEMALES HAVE A SIMILAR PATTERN IN TERMS OF SURVIVAL. AND WE CAN ALSO TELL BECAUSE THIS WENT BACK OVER THE LAST 20 YEARS, FROM 1998 TO 2018, CHANGES IN DIAGNOSIS, CHANGES IN MEDICAL CARE REALLY HAVEN'T IMPACTED SURVIVAL IN THIS DISORDER. BUT THIS KIND OF DATA, WE CROWD SOURCED IT BUT IT'S VERY LIMITED. I CAN'T ACTUALLY TELL YOU THAT THE INDIVIDUALS IN THESE DATASET HAD NPC. I DON'T KNOW WHETHER THEY HAD NPC1 OR NPC2, TWO VARIANTS. I DON'T KNOW IF THEY HAD NPA INSTEAD OF NPC. SO THE DATA HAS VALUE. BUT TO A POINT. THIS IS AN EXAMPLE OF OTHER DATA THAT WE HAVE COLLECTED AS A RESEARCHER. ON THE RIGHT HERE, SORRY, LEFT, GET MYSELF TURNED HERE. ON THE LEFT YOU SEE CHARACTERIZATION OF DISEASE PROGRESSION, AGAIN IN NPC. THIS WAS A RETROSPECTIVE LOOK, A CHART REVIEW THAT WE WERE ABLE TO DO. AND WE WERE ABLE TO GET AN IDEA OF THE DISEASE PROGRESSION OVER 5, 10, 15 YEARS, AND ON THIS SCALE THAT WE HAPPENED TO USE, DISEASE PROGRESSED AT ABOUT TWO POINTS PER YEAR. SO IT COULD BE USED RETROSPECTIVELY. WE ARE ABLE TO USE IT PROSPECTIVELY LOOKING FORWARD N A CLINICAL TRIAL WE PERFORMED AT THE NIH AND IN COMPARISON TO OUR NATURAL HISTORY GROUP, YOU CAN SEE THE PATIENT, WHICH IS IN ORANGE, YOU CAN SEE THAT THE PATIENTS WHO WERE TREATED WITH THIS EXPERIMENTAL DRUG APPEARED TO PROGRESS AT A SLOWER RATE THAN OUR HISTORICAL DATA. THE DATA IS RIGOROUSLY COLLECTED IN ONE SITE. IT'S MUCH HARD TORE COLLECT THIS TYPE OF DATA ACROSS SITES. IT IS NOT DATA THAT CAN MEET THE REQUIREMENTS TO GET OUR REGULATORY AGENCIES TO APPROVE A DRUG, BUT IT GIVES US A WAY FORWARD. SO, I GUESS TO START THIS OFF, WHAT I WANT TO SAY IS, WE NEED TO COME TO A COMMON LANGUAGE ABOUT WHAT WE WANT TO COLLECT, WHAT THE PURPOSE OF THE COLLECTION IS. WE NEED TO THINK ABOUT STANDARDIZING WHAT IS COLLECTED AT DIFFERENT SITES AND IT'S COLLECTED IN THE SAME MANNER SO THAT THE QUALITY OF THE DATA CAN GET YOU TO WHERE YOU WANT TO BE. THANK YOU. [ APPLAUSE ] >> IT'S A PLEASURE TO TALK TO YOU ABOUT THE IMPORTANCE OF PATIENT INVOLVEMENT AND PRODUCT DEVELOPMENT FOR RARE DISEASES. FDA IS COMMITTED TO ASSURING SPEEDY DEVELOPMENT OF TREATMENTS FOR PATIENTS WITH RARE DISEASES. TODAY I HAD THREE MAIN TOPICS I WANTED TO COVER. FIRST, THE INVOLVEMENT OF PATIENTS AND PATIENT INPUT IS CRITICAL IN ADDRESSING THE CHALLENGES OF DEVELOPING A TREATMENT FOR RARE DISEASES. I'M EXCITED TO ANNOUNCE TODAY THAT FDA WILL BE HOSTING A PUBLIC MEETING ON APRIL 29 THAT WILL GET INFORMATION DIRECTLY FROM PATIENTS ABOUT THE IMPACTS OF RARE DISEASES ON DAILY LIFE. WHAT WE RECOGNIZE THAT EACH RARE DISEASE IS DIFFERENT, WE ALSO UNDERSTAND THAT THERE ARE COMMONALTIES ACROSS RARE DISEASES AND OUR HOPE WITH THIS MEETING IS TO BRIDGE BETWEEN THOSE COMMONALTIES TO HELP SUPPORT PRODUCT DEVELOPMENT, POTENTIALLY BY CONSIDERATIONS RELATED TO NOVEL ENDPOINTS OR TRIAL DESIGN. THE SECOND POINT I WANTED TO MAKE TODAY IS THAT IT IS ALWAYS IMPORTANT THAT WE FOCUS ON THE LONG TERM GOALS. ONE OF OUR LONG TERM GOALS IS CLEARLY HAVING PRODUCTS AVAILABLE FOR PATIENTS RARE DISEASES. EACH OF US HERE TODAY HAS A UNIQUE PERSPECTIVE ON HOW TO ACHIEVE THIS AND WE NEED TO WORK TOGETHER TO SUPPORT THIS GOAL. AND LAST, AS WAS JUST MENTIONED, IT'S EXTREMELY IMPORTANT WE ENSURE DATA QUALITY. HIGHER-QUALITY DATA LEADS TO FASTER APPROVALS WHILE LOWER-QUALITY DATA LEADS TO MORE DIFFICULTY AND UNCERTAINTY AND DIFFERENTIATING WHETHER OR NOT A TREATMENT WILL BE REALLY EFFECTIVE. IT'S IMPORTANT TO THINK ABOUT THIS EARLY AND OFTEN WHEN WE ARE COLLECTING INFORMATION SUCH AS WHEN WE ARE COLLECTING SERUM SAMPLES OR COLLECTING OUTCOMES ASSESSMENT AND ALWAYS THINK ABOUT WHETHER OR NOT IT TRULY IS QUALITY DATA. SO REGISTRY INFORMATION CAN BE CRITICALLY IMPORTANT TO NATURAL HISTORY STUDIES. AND WE HAVE THREE GRANT PROGRAMS, INCLUDING A NATURAL HISTORY GRANT PROGRAM. THAT PROGRAM SUPPORTS THE DEVELOPMENT OF PRODUCTS OF RARE DISEASES ESPECIALLY LOOKING AT SUB POPULATIONS AND BIOMARKERS AND CLINICAL OUTCOMES. IT WAS LAUNCHED IN 2016 AND WE RECENTLY HAD REQUEST FOR APPLICATIONS THAT EMPHASIZED THE IMPORTANCE OF UNMET NEED AND THE RARE DISEASE STUDIES WE WERE FUNDING AND LOOKED AT INNOVATIVE METHODS FOR COLLECTING NATURAL HISTORY INFORMATION. CURRENTLY, THE OFFICE OF ORPHAN PRODUCTS AND FUNDING SIX NATURAL HISTORY GRANTS, INCLUDING TWO THAT HAVE NCATS SUPPORT. ONE OF THE STUDIES IS LOOKING AT CHILDREN WITH FREED RICK ATAXIA WITH SYMPTOMS RELATED TO MUSCLE AND COORDINATION, SUCH AS DIFFICULTY WALKING AND SLURRED SPEECH. MANY PREVIOUS STUDIES LOOK AT THIS IN ADULT AND THIS NATURAL HISTORY STUDY IS FILLING CRITICAL GAPS BY STUDYING OR EXAMINING CHILDREN TO SEE IF WE CAN LEARN MORE DURING THIS PERIOD. THIS IS VERY IMPORTANT IN PRODUCT DEVELOPMENT BECAUSE WE NEED TO UNDERSTAND THE PROGRESSION OF THE DISEASE IF WE ARE GOING GOING TO ASSESS CLINICAL STUDIES TO ASSESS ENDPOINTS IMPORTANT TO PATIENTS. IN THE END, WE WANT THE PRODUCTS WE APPROVE TO ADDRESS THE NEEDS OF PATIENTS AND THEIR FAMILIES AND WE ARE DEDICATED TO THIS MISSION AT FDA. THANK YOU. [ APPLAUSE ] >> I'M SO HONORED TO BE HERE SPEAKING TO ALL OF YOU TODAY ALONG WITH THIS PANEL AND ON BEHALF OF THE OTHER PATIENT ADVOCACY GROUPS IN THE ROOM. IT'S QUITE AN HONOR TO BE HERE TO GIVE VOICE TO WHAT YOU'RE DOING AS WELL. AND I WANT TO BEGIN WITH WHAT IS BAR SYNDROME? IT'S A RARE LIFE THREATENING GENETIC MITOCHONDRIAL DISORDER T PRIMARILY EFFECTS YOUNG BOYS BECAUSE IT IS AN X LINKED MUTATION OF THE GENE T IS COMPLEX. IT'S MULTI-SYSTEM. AND THEREFORE IT HAS MANY DIFFERENT SYMPTOMS. THE COMMON ONES ARE CARDIOMYOPATHY, HYPE TONIA, NEUTROPENIA, AMONG MANY OTHERS. AND IT CAN BE SO SEVERE IT WARRANTS A HEART TRANSPLANT T IS TRULY AN EMOTIONAL EXPERIENCE TO BE HERE ON RARE DISEASE DAY ESPECIALLY TODAY BECAUSE WE DO HAVE A CHILD WHO IS UNDERGOING A HEART TRANSPLANT AS WE SPEAK. SO I THANK YOU AND I WANT TO SEND A SHOUT OUT TO THAT FAMILY. BAR SYNDROME FOUNDATION WAS ESTABLISHED IN 2000S AT THE ONLY GLOBAL NETWORK OF FAMILIES, HEALTH CARE PROVIDERS AND RESEARCHERS THAT WERE COMMITTED TO SAVING LIVES FROM BAR SYNDROME. SO WE CONVENED FAMILIES AND FUNNY QUIRKS WERE COMING OUT. MY KID LIKES TO HORDE SALT PACKAGES OR EATS PICKLES OR MY SON IS 8 YEARS OLD BUT HE LOOKS LIKE HE'S 5. SO WHAT WE WANTED TO DO IS TO MAKE SENSE AND FIGURE OUT IF QUIRKS WERE ACTUALLY TRENDS. SO IN 2006, BAR SYNDROME FOUNDATION MADE THE STRATEGIC DECISION TO START A REGISTRY. IN OUR REGISTRY IT'S COMPRISED OF BOTH PHYSICIAN-ENTERED DATA AS WELL AS PATIENT-REPORTED OUTCOMES. AND THEN WE WERE ABLE, AS ERICH WAS SAYING EARLIER, AND DENNY, TO BE ABLE TO QUANTIFY WHAT ARE THE TRENDS IN OUR COMMUNITY? TWO-THIRDS WITH MITOCHONDRIA -- CARDIOMYOPATHY, EXCUSE ME. 70% NEUTROPENIA. WE THEN WERE ABLE TO GENERATE PUBLICATIONS. AND IN 2012, FOR EXAMPLE, WE HAD A PUBLICATION BY DR. AMY ROBERTS, WHO AT THE BOSTON CHILDREN'S HOSPITAL, WHO WAS ABLE TO CHARACTERIZE THE PHENOTYPE, THE GENETIC BASIS AS WELL AS A PATHOPHYSIOLOGY OF BARTH SYNDROME. IT WAS ALSO IMPORTANT THAT WE COULD RECOGNIZE THAT 70% OF KIDS HAD THE CO-MORBIDITY OF CARDIOMYOPATHY AND NEUTROPENIA. ANOTHER RESEARCHER WENT ON AND JUST LAST MONTH PUBLISHED -- AND THAT'S DR. COLIN STEWART -- LOOKING AT BARTH SYNDROME ASSOCIATED NEUTROPENIA. AND HE MADE A VERY BOLD STATEMENT IN HIS PUBLICATION, WHICH WAS, ANY YOUNG BOY WITH UNEXPLAINED NEUTROPENIA, UNEXPLAINED CHRONIC CYCLICAL NEAT PENIA, SHOULD BE EVALUATED FOR HAVING BARTH SYNDROME. HERE ARE SOME EXAMPLES OF HOW OUR REGISTRY HAS NOT ONLY INFORMED WHAT IT MEANS TO HAVE BARTH SYNDROME, BUT ALSO THE STANDARDS OF CARE AND CLINICAL CARE OF OUR CONSTITUENTS. WE MENTIONED THAT WE ALSO USED THE REGISTRY THEN TO DEFINE WHERE ARE OUR STRATEGIC RESEARCH PRIORITIES. BECAUSE OF THE CARDIOMYOPATHY, WE WENT TO DR. BRIAN FEINGOLD OF CHILDREN'S HOSPITAL OF PITTSBURGH, RECRUITED HIM TO BARTH SYNDROME AND HE IS NOW PAIRED THE PEDIATRIC HEART TRANSPLANT SOCIETIES'S REGISTRY DATA WITH OUR PATIENT-REPORTED EXPERIENCE IN OUR REGISTRY. AND SINCE JANET IS HERE, I WANT TO MENTION THE FDA. WE HAD OUR EXTERNALLY-LED MEETING LAST YEAR AND THAT WAS A SEMINOLE EVENT FOR OUR COMMUNITY AND I'M VERY PROUD TO SAY THAT OUR VOICE OF THE PATIENT REPORT, FOR THOSE WHO DON'T KNOW, IT'S A LABOR OF LOVE TO GIVE BIRTH TO YOUR REPORT. AND THAT IS GOING TO BE BORN IN THE NEXT FEW DAYS. ONE OF THE THINGS THAT IS REALLY POWERFUL ON A DOWNSTREAM SIDE OF A REGISTRY, IS THAT YOU CAN ENGAGE THE FDA IN OTHER REGULATORS BY TAKING THE VOICE OF THE PATIENT REPORTUX THE NARR THEY WAS THEY HEARD IN THE ROOM WITH YOUR CONSTITUENCY -- NARRATIVES -- AND TAKE THE REGISTRY DATA THAT CORROBORATES WHAT THEY HEARD IN THOSE PATIENT STORIES, THOSE TESTIMONIES. AND THAT ALSO HELPS TO ACCELERATE THEIR DECISIONS AROUND APPROVAL OF DRUGS. THERE IS MUCH MORE I CAN SAY ABOUT THIS IN A REGISTRY. I THINK IT'S A CRITICAL TOOL BECAUSE IT HAS -- YOU CAN USE IT AT MANY DIFFERENT POINTS ALONG THE R&D SPECTRUM AND ENGAGING DIFFERENT CONSTITUENTS ALONG THE WAY. AND I LOOK FORWARD TO THE Q&A. THANK YOU. [ APPLAUSE ] >> SO MY PURPOSES IS TO BRING THE PRACTICALITIES OF REGISTRIES. THIS IS ALONG WITH THE LAUNCHING OF THE RADAR SITE WHICH WAS WORKED ON BY OTHERS, INCREDIBLY LARGE EFFORTS TO TRY TO ASSIST FOUNDATION GROUPS IN MAKING A REGISTRY. YOU HAVE TO UNDERSTAND -- THE OVERALL ASPECT OF THIS AND IT IS COMPLICATED. WE KEEP TELLING EVERYBODY MAKE YOUR REGISTRY BUT THEN WE USE VARIOUS TERMINOLOGY SPEC HOW TO DO IT AND THEN GROUPS FIND OUT THERE WAS A REGISTRY BUT IT WASN'T ABLE TO BE PUSHED FORWARD OR IT WASN'T QUALITY DATA. YOU CAN WORK WITH YOUR COMMUNITY AND GET A CONTRACT REGISTRY. WHAT WE ARE TRYING TO SAY, THINK ABOUT THIS KIND OF COMPLICATED CLINICAL ASPECT OF A REGISTRY BECAUSE THAT IS REALLY WHAT YOU NEED TO MOVE FORWARD WHEN WORKING WITH INDUSTRY OR THE FDA. CLINICAL REGISTRY HAVE SOME REGULATIONS AND IRB AND CONSENT SO IF THEY ARE IN PLACE, YOU CAN TRANSFER THE DATA TO PEOPLE OR DISCUSS THE DATA IN A SCIENTIFIC ARTICLE AND PUBLICATIONS AND THEN HOW DO YOU COLLECTED THE DATA? AND ONE OF MY COLLEAGUES, ALWAYS TALKS ABOUT THIS AS THE DATA COLLECTION IS LIKE AN ENGINE IN YOUR CAR. YOU DON'T REALLY EVER SEE IT YOU ABOUT YOU REALLY DO WANT IT TO WORK WELL. SO THERE ARE VARIOUS OPTIONS IN HAVING A DATA HUB. ONE IS TO CONTRACT WITH SOMEONE WHO WILL MAKE REGISTRY FOR YOU. ANOTHER IS TO WORK WITH RESEARCH PARTNERS AND THEY CAN HOUSE A REGISTRY FOR YOU AND NOWADAYS WITH THE ADVANCEMENT OF IT, YOU CAN HOUSE YOUR OWN REGISTRY. YOU CAN HAVE A REGISTRY ON A CLOUD NETWORK AND IT'S NOT AS COMPLICATED, BUT YOU DO NEED AN IT SPECIALIST TO HELP YOU SET THAT UP. BUT THERE ARE OPTIONS. AND WHAT I'M TRYING TO ENCOURAGE IN THIS MOMENT OF MY TALK IS THAT YOU UNDERSTAND WHO OWNS THE DATA. YOU NEED TO OWN THE DATA BECAUSE THEN YOU CAN NOT USE IT IF YOU DON'T OWN IT. SO YOU ALSO AGAIN HAVE TO BE COLLECTING HIGH-QUALITY DATA. SO WHEN YOU LOOK AT THIS TYPE OF WHAT YOU'RE GOING TO COLLECT, YOU CAN COLLECT CLINICAL MANAGEMENT DATA FROM AN EMR. YOU CAN COLLECT NATURAL HISTORY DATA. YOU CAN COLLECT PATIENT EXPERIENCE DATA. BUT ALL OF IT HAS TO BE DONE HIGH QUALITY AND YOU WANT TO GET SOME CONSULTANTS TO HELP YOU UNDERSTAND WHAT YOU'RE COLLECTING. NATURAL HISTORY DATA OFTEN PEOPLE GET-TOGETHER WITH THEIR RESEARCHERS AND CLINICIANS AND DECIDE WHAT IS THE DATA THAT IS IMPORTANT IN OUR FIELD THAT TALKS ABOUT PROGNOSIS AND DISEASE ACTIVITY? AND THEN THEY MAKE A PROTOCOL AND THEN THEY CAN COLLECT THAT DATA. Y IS, IT'S SORT OF COMPLICATED BUT -- SO IT IS SORT OF COMPLICATED BUT HOPEFULLY WILL YOU HAVE SOME TOOLS THAT ARE GOING TO BECOME AVAILABLE TO YOU ON THE WEBSITE AND YOU ALSO HAVE SOME UNDERSTANDING OF WHAT TYPE OF REGISTRY YOUR GROUP WANTS TO GENERATE. THANK YOU. [ APPLAUSE ] >> I WANT TO FACILITATE QUESTIONS AMONG OUR PANELISTS. WE WILL BE TALKING ABOUT THIS A LITTLE MORE. THIS IS THROAT YOU KNOW WHATEVER WE CAN'T ANSWER HERE -- THIS IS TO LET YOU KNOW -- I'M INTERESTED IN THE QUESTIONS YOU HAVE. BUT TO START US OFF AS FAR AS A COUPLE OF QUESTIONS TO ASK OUR PANELISTS, WE TALKED A LOT ABOUT VALUE AND QUALITY AMONG DATA. WHAT IS DATA QUALITY OR WHAT DOES VALUE MEAN TO YOU AS FAR AS WHEN YOU'RE THINKING ABOUT DATA? >> SA A RESEARCHER, I'M ASKING THE QUESTION, IS THIS DATASET GIVING ME A REAL RESULT? CAN I UNDERSTAND THE DISEASE FROM THE DATASET THAT I HAVE? I TALKED ABOUT THE DATASET THAT WE CROWD SOURCED THAT HAD LIMITATIONS TO IT. IT'S INTERESTING ON THIS SLIDE THERE IS POWER IN NUMBERS. I'M RELYING ON THE FACT THAT THE ERRORS IN THAT DATASET ARE SMALL, RELATIVE TO THE OVERALL DATASET. AND WITH 338 INDIVIDUALS ON THERE, THAT'S PROBABLY THE CASE. SO FROM A RESEARCH STANDPOINT, WE HAVE THAT LEVEL. WE WANT TO MAKE SURE THAT THE DATA WE COLLECT IS ACTUALLY TELLING US WHAT WE THINK IT IS CORRECT. A CORRECT PICTURE OF THE DISEASE PROCESS. >> I WILL COMMENT ALSO THAT YOU HAVE TO HAVE A QUALITY CONTROL COMPONENT OF YOUR REGISTRY. FOR ONE EXAMPLE IS, ONE OF THE QUESTIONS IS, DO YOU HAVE VISION PROBLEMS? AND SOME PEOPLE SAY, NO; BECAUSE I WEAR GLASSES. WE TAKE QUESTIONS FROM THE OTHER REGISTRIES SUCH AS THE SCNIR, THE PEDIATRIC HEART TRANSPLANT SOCIETY AS WELL. SO THAT THERE IS POWER IN NUMBERS BECAUSE NOW WE HAVE MORE DATA FROM OTHER ORGANIZATIONS THAT WE CAN USE TO HAVE A CROSS COMPARATIVE ANALYSIS. AND THAT IS ALSO HELPED BECAUSE THEN YOU'RE NOT CHANGING ANYTHING IN THE QUESTIONS AS WELL. AND IT'S ALREADY BEEN TESTED BY RESEARCHERS. SO I THINK YOU MUST HAVE THE QUALITY CONTROL COMPONENT, FIND WAYS TO LEVERAGE WORK THAT HAS ALREADY BEEN DONE TO HAVE THE STANDARDIZED QUESTIONS AND THEN WORK WITH THOSE ORGANIZATIONS SO YOU CAN HAVE THE POWER IN NUMBERS AND YOU CAN CREATE CRITICAL MASS. >> SO I AGREE. I THINK HIGH-QUALITY DATA IS DATA THAT IS ACCURATE AND RELIABLE. WE WANT TO MAKE SURE THAT THE THINGS WE ARE MEASURING ARE WHAT WE WANT TO MEASURE AND I THINK IT IS A GREAT EXAMPLE OF IF YOU'RE ASKING SOMEONE ABOUT IF THEY HAVE VISION PROBLEMS, THAT QUESTION CAN BE INTERPRETED IN A LOT OF DIFFERENT WAYS. SO IT'S NOT THAT IS IT A DATA QUALITY ISSUE BUT THAT IT'S NOT ACTUALLY ASKING THE CONCEPT THAT YOU WANT TO GET AT. SO I THINK A KEY THEME THAT WE HAVE HEARD DURING OUR SESSION IS REALLY, THINK FROM THE BEGINNING WHAT IS THE GOAL OF THE REGISTRY OR NATURAL HISTORY STUDY AND THEN WORK BACKWARDS FROM THERE BECAUSE THE TYPES OF DATA YOU COLLECT WILL VARY DRAMATICALLY DEPENDING ON WHAT THE OVERALL GOAL IS. AND THERE ARE LOTS OF DIFFERENT GOALS THAT ARE VERY MEANINGFUL. IT'S JUST IMPORTANT TO THINK ABOUT THAT WHEN YOU'RE COLLECTING DATA BECAUSE CLEARLY IT'S VERY VALUABLE THAT WE GET THE INFORMATION AND THAT WE GET IT RIGHT. >> [ OFF MICROPHONE ] THEY WERE ABLE TO COLLECT PATIENT DATA AND CLINICAL -- CLINICIAN-IMPORTED DATA. SO THEREFORE THEY HAD A RANGE OF WHAT THEY COULD PRESENT AND THAT IS GOOD TO THINK ABOUT IN THE BEGINNING. BOTH ARE VALUABLE IN DIFFERENT AREAS. AND SO WHEN YOU HEAR FROM SOMEONE, WOW, THE PATIENT JUST COLLECTED THAT DATA, IT DOESN'T MEAN ANYTHING. IT DOES MEAN SOMETHING. SO YOU CAN COLLECT BOTH WITHIN THE SIMILAR REGISTRY AS YOU HAVE DONE. >> AND I WANT TO GO BACK TO A COMMENT THAT JANINE MENTIONED ABOUT OWNERSHIP OF THE DATA. IT'S A TOUGH CONCEPT TO UNDERSTAND BUT I THINK ALSO AT THE SAME TIME, ESPECIALLY IN THE NEWS, GIVEN ALL THESE CONCERNS ABOUT SECURITY AND INFORMATION, WHAT DOES THAT MEAN TO YOU AS FAR AS -- DOES OWNERSHIP CHANGE HOW YOU VIEW AS AN INDIVIDUAL IN TERMS OF YOUR ROLE CAN WORK WITH THE DATA? OR WHERE YOU SEE PATIENT GROUPS EITHER SUCCEED OR POTENTIALLY HIT ROAD BLOCKS BECAUSE OF OWNERSHIP PROBLEMS? >> SO I THINK IT'S UNFORTUNATE IF A GROUP MIGHT HAVE CONTRACTED TO SOMEONE AND THEY DIDN'T RECOGNIZE THAT THAT CONTRACT MEANT THAT THE DATA THAT WAS COLLECTED WASN'T THEIRS AND LET'S SAY THEY ARE READY TO GO FORWARD WITH THE STUDY AND THEY ARE INFORMED THAT THEY CAN'T HAVE THEIR DATA. THAT WILL HAPPEN. SO YOU JUST HAVE -- AGAIN, THIS IS ALL ABOUT THINKING UPFRONT. YOU WONDER WHAT AM I SIGNING UP FOR? WHAT AM I DOING? SO THERE ARE MANY, MANY SERVICES OUT THERE. YOU JUST HAVE TO CAREFULLY PICK THEM FROM THE BEGINNING. >> I WOULD JUST ADD TO THAT. THE PATIENTS, THE FAMILIES, YOU'RE IN THIS FOR A LONG-TERM ISSUE. RESEARCHERS MAY COME AND GO. COMPANIES WILL COME AND GO. YOU WANT TO OWN YOUR DATA SO IT CAN BE USED IN THE FUTURE AND BUILT UPON. AND YOU WANT TO BE ABLE TO CONTROL YOUR DESTINY AT THAT LEVEL. >> AND SO WHAT IS EXCITING NOW IS THAT THERE ARE METHODS WHERE YOU CAN ACTUALLY EVEN HOUSING YOUR DATA -- I THINK IT'S FRIGHTENING WHEN YOU FIRST START OUT BECAUSE WE TALKED THIS MORNING, PEOPLE WORRY ABOUT HIPPA, CONFIDENTIALITY. BUT THERE ARE A LOT OF WAYS FOR YOU, YOURSELF, TO DO THIS AND LITERALLY OWN AND HAVE ACCESS TO THE DATA INSTANTLY. >> I'LL ADD AND ERICH ALLUDED TO THIS, THAT ARE BARTH SYNDROME FOUNDATION WAS PART OF THE GLOBAL RARE DISEASE REGISTRY, THE GRDR, BACK IN 2010, THEREABOUTS. WE CONTINUED THAT PLATFORM TODAY WHEREBY WE STILL OWN THE DATA. I CANNOT EMPHASIZE ENOUGH THE IMPORTANCE IF YOU'RE THINKING OF REGISTRY, OWNERSHIP IS CRITICAL. THERE ARE, FOR LACK OF A BETTER WORD, SOME PERVERSE STRUCTURES OF REWARD OUT THERE WHETHER THEY ARE COMMERCIAL OR CARER ADVANCEMENT IN ACADEMIA, WHEREBY IF DATA IS HOUSED IN A SPECIFIC LAB, IN A SPECIFIC BUSINESS ENTITY, THAT DOESN'T SERVE MY MISSION. AND MY MISSION IS TO GET THERAPIES AS FAST AS POSSIBLE, GOOD THERAPIES AS FAST AS POSSIBLE TO THE PEOPLE I REPRESENT. AND I DON'T REALLY CARE ABOUT SOMEBODY'S PAPER OR PUBLICATION -- I MEAN I DO, OBVIOUSLY, BUT THAT CANNOT BE AN OBSTRUCTION TO THE HEALTH OF OUR INDIVIDUALS THAT WE REPRESENT. SO, I THINK ON MY BEHALF, FOR EXAMPLE, THE PAPERS I REFERENCED WOULD NEVER HAVE BEEN POSSIBLE IN A TIMEFRAME THAT THEY OCCURRED HAD THE DATA BEEN PROPRIETARY IN NATURE. SO I QUITE OUTSPOKEN PROPONENT FOR PAGs TO OWN THE DATA AND TO REALLY THINK ABOUT IT AS DENNY WAS MENTIONING. THIS IS A LONG-TERM ISSUE. IT'S NOT JUST FIVE YEARS OR ONE YEAR. YOU'RE IN IT FOR THE LONG HAUL. >> TO BUILD ON THAT A LITTLE BIT, I THINK IT'S NOT ONLY DATA OWNERSHIP BUT IT'S ALSO DATA DISSEMINATION. SO IT'S IMPORTANT TO THINK UPFRONT NOT ONLY WHOA OWNS THE DATA BUT WHAT THE IS PLAN FOR COMMUNICATING THAT DATA OR THAT INFORMATION AND WHO WILL IT GET COMMUNICATED TO? DEPENDING ON THE TYPE OF INFORMATION YOU'RE COLLECTING, IT MAY HAVE VALUE IN DIFFERENT WAYS. SO IT'S JUST IMPORTANT TO THINK ABOUT THOSE THINGS UPFRONT BECAUSE CLEARLY WE WANT TO SPREAD AS MUCH KNOWLEDGE AS WE CAN. >> SO I WANT TO OPEN IT NOW TO THE AUDIENCE IF YOU HAVE ANY QUESTIONS. I THINK WE HAVE A HAND OVER HERE AS WELL AS OVER HERE. SO WE HAVE -- YOU NEED ANOTHER MIC? >> THIS IS A CRITICAL NEEDS AREA FOR A LOT OF THINGS. LONG-TIME ADVOCACY AND POLITICS EVERYTHING ELSE, NEW TO THE RARE DISEASE. ONE OF THE THINGS I FIND A LARGE DEFICIT OF IS THE ECONOMIC DATA. THERE ARE SOME BEAUTIFUL SOURCES OF VERY STRUCTURED DATA WITH MEDICARE, MEDICAID AND THE INSURANCE COMPANIES. HIGHLY STRUCTURED, VERY -- THEY HAVE A STANDARD AND EVERYTHING ELSE. CROWD SOURCING. YOU BROUGHT THAT UP. IT IS SO EASY FOR ME TO OBTAIN THAT INFORMATION AND SUPPLYING THAT AND SUBMITTING THAT YET RETAINING IT -- I'M WONDERING WHY THERE ISN'T -- I UNDERSTAND THE SCIENCE PART BUT WE HAVE TO GET THE POLICY PART AND THE FUNDING, AND WITHOUT THAT DATA, WHEN THEY ASK THE QUESTION, WHAT'S THE COST? WHAT'S THE DOLLARS? GRANTED THERE IS REASONS NOT TO SAY IT, BUT WITHOUT BEING ABLE TO ANSWER THAT, IT'S EXTREMELY DIFFICULT -- AS WAS GOING ON TUESDAY WHEN WE WERE GOING AROUND TO SEE ALL THE DIFFERENT APPEARANCE REPRESENTATIVES. THAT IS A QUESTION THAT ALWAYS COMES UP -- DIFFERENT SENATORS AND REPRESENTATIVES. WE NEED THE INFO. >> I'LL MAKE A COMMENT IN THAT THE BURDEN OF DISEASE, THE ECONOMIC BURDEN OF DISEASE IS SOMETHING THAT WE HAVE TO BE ABLE TO QUANTIFY. FOR BETTER OR WORSE THERE IS A QUALITATIVE ASPECT OF IT, OF COURSE, BUT WHEN YOU'RE TALKING TO PAYORS, YOU HAVE GOT TO BE ABLE TO HAVE THAT NARRATIVE READY. AND EVEN WHEN YOU'RE TRYING TO ENGAGE PHARMACEUTICALS OR BIOTECH, YOU HAVE TO BE ABLE TO DO -- THEIR BUSINESS DILIGENCE FOR THEM. OTHERWISE THE DOORS WON'T OPEN. IT'S TOO STEEP OF A SLOPE THAT THEY WANT -- THEY DON'T WANT TO SKI UP. THEY WANT TO GO DOWN. AND SO I THINK AS A RARE DISEASE ORGANIZATION, WE HAVE BEEN SO FOCUSED ON JUST PEOPLE UNDERSTANDING WHAT IS BARTH SYNDROME, BRINGING PEOPLE INTO THE FOLD, GETTING THEM INTERESTED IN BASIC RESEARCH; MAYBE PRE-CLINICAL. OH, MY GOODNESS TRANSLATIONAL. YOU GET TO TRANSLATIONAL AND YOU HAVE TO BE THINKING ABOUT REIMBURSEMENT BECAUSE YOU WANT TO PLAN FOR SUCCESS. THAT TAKES A LOT OF EFFORT. AND I WILL SAY THAT THERE ARE -- THIS IS WHERE I HAVE BEEN LOOKING TO ACADEMIA TO PARTNER, BECAUSE THERE IS GREAT ECONOMISTS OUT THERE WHO HAVE GIVEN THOUGHT AND CANCER IN DEVELOPING ECONOMIC MODELS THAT COULD POTENTIALLY WITH A FEW TWEAKS, HAVE RELEVANCE TO RARE DISEASE. AND I SEE THAT AS A GREAT OPPORTUNITY FOR THIS ENTIRE COMMUNITY GOING FORWARD. >> WE HAD A PERSON OVER HERE AND THEN WE'LL GO TO THE -- OVER HERE. >> HI, I'M DIANA CAMPBELL. I HAVE A FEW QUESTIONS. CAN ANYONE HAVE A REGISTRY? IS THAT WHAT YOU'RE SAYING? I'M STILL TRYING TO LEARN THIS. CAN ANYONE HAVE A REGISTRY? OKAY. WHAT IS THE SECURITY FOR HAVING ONE? AND I'M TALKING ABOUT IN A DATA SENSE, SECURITY. SO THE INFORMATION WON'T GET OUT ABOUT A PATIENT WHAT IS THE SECURITY? >> WHEN WE TALK -- WHEN WE TALK ABOUT A CONTACT REGISTRY, AS A PATIENT GROUP, YOU HAVE A RIGHT TO CONTACT PEOPLE WHO HAVE THE DISEASE AND GET THEIR NUMBERS. THAT'S YOUR OWN FOUNDATION'S CONFIDENTIALITY AND SECURITY. HOW SECURE ARE YOU? I MEAN, YOU HAVE AN OBLIGATION TO YOUR PATIENTS AND YOUR COMMUNITY TO BE SAFE AND TO HAVE THEIR INFORMATION SECURED BUT THAT'S YOUR ORGANIZATION'S ISSUE. WHEN YOU START MOVING INTO CLINICAL DATA, THEN THERE ARE REGULATIONS AND THAT IS WHAT WE WERE TALKING ABOUT WHERE YOU HAVE TO -- WE WERE TRYING TO PROVIDE INFORMATION ON THE SITE THAT HAS BEEN LAUNCHED, THE RADAR SITE, SO YOU CAN UNDERSTAND THE DIFFERENT REGULATION THAT IS MIGHT BE REQUIRED FOR THE TYPE OF DATA THAT YOU'RE COLLECTING. THE REASON WE SAY THAT SOMEONE NEEDS AN IRB, AN INSTITUTIONAL REVIEW BOARD TO LOOK OVER YOUR QUESTIONNAIRE OR YOUR WORK, IS BECAUSE THAT DATA CAN ONLY BE USED FOR PUBLISHING IF YOU HAVE AN IRB. YOU CAN COLLECT IT WITHOUT AN IRB BUT THENY CAN'T PUBLISH IT OR GIVE IT TO OTHER PEOPLE OR TRANSMIT IT. >> I HAVE BEEN HEARING A COUPLE OF THINGS ABOUT SOME OF THESE REGISTRIES, OR THEY ARE TAKING ILLEGALLY, ACCESSING OTHER PATIENT'S DATA, WHICH THEY DON'T KNOW ANYTHING ABOUT IT. SO WHAT IS THAT ABOUT? AND HOW IS THAT POSSIBLE? ARE SOME OF THESE PEOPLE COLLECTING DATA -- AND YOU'RE NOT KNOWING IT FROM A PATIENT? LIKE I'M A PATIENT. AND JUST SAY I'M JUST TALKING -- AND ALSO I'M JUST SAYING SOME INFORMATION. THEY MAY BE COLLECTING DATEDDA AND I DON'T KNOW IT. >> SO I THINK THERE ARE TWO PARTS TO THIS. ONE IS A QUESTION AS A PATIENT OR AS A PARTICIPANT, HOW DO I KNOW AND TRUST WHERE MY INFORMATION IS GOING. SO THAT'S ONE PART OF THIS. AND THEN THE SECOND PART I'M HEARING IS ALSO FROM THE OTHER ANGLE, IS THAT SOMETHING THEY CAN DO EVEN? ARE THEY ABLE TO TAKE INFORMATION FROM, MEDICAL INFORMATION FROM SOMEWHERE ELSE ABOUT A PATIENT? >> [ OFF MICROPHONE ] >> ARE PEOPLE DOING THAT WITHOUT YOU KNOWING IT? >> IS THAT WHAT YOU'RE ASKING? >> I HEARD PEOPLE THAT THEY HAVE DATA AND NOT EVEN ACCESSING THEIR OWN DATA AND FINDING OUT IT HAS BEEN OUT ALREADY. SOMEONE HAD TAKEN IT AND THEY WERE NOT AWARE. >> SO I'LL JUST IN RESPECT OF WE HAVE A LOT OF DIFFERENT PARTICIPANTS, LET'S FOCUS ON THE FIRST QUESTION IF THAT IS OKAY AND THEN I CAN TALK TO YOU AFTERWARDS ABOUT THE SECOND ONE. SO MAYBE MORE ABOUT THE ISSUE AS A PARTICIPANT, HOW DO I TRUST WHERE MY INFORMATION IS GOING AND HOW DO I KNOW IT'S GOING TO A RELIABLE RESOURCE? >> I'LL SAY THAT WE CHOSE A VENDOR WHO WAS -- HAD QUITE A GOOD REPUTATION, AND THAT VENDOR -- THEY HAVE TO GO THROUGH A LOT OF PROCESSES TO DEMONSTRATE THAT THEY HAVE SUFFICIENT SECURITY AND FIREWALL. THAT'S NOT SOMETHING I WANT TO TAKE ON IN THE WAY OF A LIABILITY FOR MY FOUNDATION. I WANT TO DEPEND ON A THIRD PARTY THAT HAS THAT RESPONSIBILITY. I'M RESPONSIBLE FOR COMING UP WITH THE BEST QUESTIONS SUCH I CAN USE THOSE QUESTIONS FOR THE FDA, FOR NIH, FOR OTHER RESEARCHERS. AND THEN GETTING PEOPLE INTO THE REGISTRY TO POPULATE THE CONTENT. BUT IN WAY OF SECURITY, IT'S REALLY SOMETHING WE ARE -- I HAVE A LOT OF SKILLS AND IT'S NOT ONE OF MY SKILLS. AND I DON'T WANT THAT TO BE SOMETHING THAT WE HAVE TO TAKE ON AS A FOUNDATION. >> SO WHEN I SHOWED THIS SIMPLE SLIDE WITH THE CLOUD ABOVE IT AND SHOWED DATA STORAGE, THOSE ARE COMPANIES THAT HAVE STORAGE AND THEY HAVE SECURITIES IN THERE AND THERE ARE SENSES ALSO IF THAT DATA IS LEAKED. -- CONSEQUENCES. SO PICK A VENDOR THAT ARE RELIABLE. >> JUST TO ADD ONE CONCEPT. OFTEN WHEN DATA GOES TO A RESEARCHER, IT'S CODED. THEY DON'T HAVE THE LINK TO THE ACTUAL PERSON'S NAME. THERE ARE CIRCUMSTANCES WHERE THAT CAN BE DONE WITH IRB APPROVAL, ET CETERA. BUT A REGISTRY OR A NATURAL HISTORY WOULD HAVE THE ABILITY TO SAY, WE ARE WILLING TO GIVE YOU THIS INFORMATION BUT YOU DON'T HAVE THE IDENTIFIERS WITH IT. AND THAT'S OFTEN VALUABLE FOR A RESEARCHER. >> AND TO THAT POINT, LIKE I AS AN EXECUTIVE DIRECTOR, I CAN'T EVEN LOG IN AND SEE WHO HAS RESPONDED TO WHAT. EVERYTHING THAT I GET IS DE-IDENTIFIED AND I'M IN THE ORGANIZATION. >> AND I THINK I RECOGNIZE THAT THERE COULD BE A LOT OF SPECIFIC QUESTIONS ABOUT SORT OF DATA AND REGISTRIES THAT MIGHT BE RELEVANT TO THE FDA, SO I WANTED TO POINT OUT THE PATIENT AFFAIRS STAFF WHO IS IN THE AUDIENCE. THEY CAN ALSO PROVIDE A RESOURCE FOR PATIENT AND PATIENT ADVOCATES IF THEY HAVE QUESTIONS THAT THEY NEED TO DIRECT TO THE FDA AND THEY CAN HELP GET YOU INTO THE RIGHT CHANNEL IF YOU HAVE A SPECIFIC QUESTION ABOUTAGE WERE THE FDA WOULD BE INVOLVED IN. MAYBE YOU CAN RAISE YOUR HAND. THANK YOU. >> A QUESTION HERE. >> YES, FIRST OF ALL, THANK YOU. THIS HAS BEEN TREMENDOUSLY INFORMATIVE. I'M HERE BECAUSE MY WIFE AND I ARE THE PARENT OF A CHILD WITH A SYNDROME CALLED MED 13L, WHICH WAS JUST RECENTLY IDENTIFIED IN THE PAST FEW YEARS. AND SO, WE ARE AT THE VERY BEGINNING STAGES OF TRYING TO ORGANIZE PATIENT GROUPS, FIND CLINICIANS, AND MY QUESTION IS, ARE THERE ANY RESOURCES YOU CAN POINT US TO, TO DEEPEN OUR UNDERSTANDING OF THE ISSUES THAT YOU RAISED, SPECIFICALLY AROUND SETTING UP A REGISTRY IN THE RIGHT WAY, FINDING THE RIGHT VENDORS, AND IDENTIFYING THE RIGHT CLINICIANS TO HELP GUIDE US. BECAUSE I THINK WE ARE UNDERSTANDING HOW IMPORTANT IT IS THAT THE REGISTRY HAVE A CLINICAL FOCUS TO IT FROM THE ONSET. >> AND I'LL JUST RESPOND TO THIS BECAUSE UNFORTUNATELY, I HAVE TO PLUG THIS WEBSITE, SO I'M, IT'S NOT A LOADED QUESTION. I DON'T KNOW THIS GENTLEMAN ASKING THIS QUESTION. THAT IS THE PURPOSE OF WHAT WE ARE TRYING TO DO WITH THIS WEBSITE. SO WHAT WE ARE TRYING TO DO, I'LL DESCRIBE MORE IN THE END BUT IT'S TO TRY TO COLLECT A LOT OF THE COMMON INFORMATION, THESE COMMON QUESTIONS THAT GROUPS WILL GO THROUGH AND PUT IT INTO A SOURCE WHERE WE CAN REALLY JUST A LAYOUT AND WE CAN TAKE THE ISSUES THAT EITHER RESEARCHERS OR FOLKS FROM REGULATORY OR FROM DIFFERENT PATIENT GROUPS HAVE IDENTIFIED. PAPERS LIKE SUCH AS WHAT DENNY WAS TALKING ABOUT EARLIER THAT HAVE REALLY INNOVATIVE WAYS OR INTERESTING WAYS OF HOW THEY HAVE UTILIZED PATIENT DATA. WE ARE TRYING TO COLLECT THAT ALL INTO THIS WEBSITE. IT'S SOMETHING WE ARE BUILDING THAT WE WILL BE LIVING SO IT WILL BE CONTINUALLY ADDED TO. RIGHT NOW IT IS FOCUSING ON THE CONTACT AND DEMOGRAPHIC QUESTIONS THAT YOU'RE REFERRING TO. BUT THIS MIGHT BE A GOOD PLACE TO START. AGAIN I DO NOT KNOW THIS GENTLEMAN AT ALL. [ LAUGHS ] >> I'LL JUST ADD THAT YOU ARE IN THE RIGHT PLACE. YOU ARE HERE AT NIH AND YOU'RE SURROUNDED BY MANY OTHER PEOPLE WHO HAVE GRAPPLED WITH THE SAME QUESTIONS. I'M ALSO HAPPY TO SPEAK WITH YOU OFF LINE. BUT, GETTING A FOUNDATION UP AND RUNNING IS A LOT OF WORK. MY ADVICE WOULD BE CHOOSE YOUR PRIORITIES AND CONCENTRATE ON A COUPLE OF SHORT-TERM GOOD, STRONG WINDS TO DEMONSTRATE YOUR VALUE ADD, AND I'M SURE YOU CAN GET A LOT OF INPUT FROM YOUR COLLEAGUES HERE ON WHAT THOSE SHOULD BE. >> AND ALSO, YOU CAN LOOK AT THE SITE BUT THE OFFICE OF RARE DISEASES IS ALWAYS AVAILABLE TO THE FOUNDATIONS FOR ADVICE. AND YOU HAVE THE E-MAIL ADDRESS PROBABLY FROM THE MEETING. >> THANK YOU. >> THANK YOU. >> WE'LL BE INUNDATED. >> A QUESTION HERE IN THE BACK. >> I'M SHARON REPRESENTING -- MY OTHER SHAT I'M SERVING AN 8-YEAR APPOINTMENT ON THE PENNSYLVANIA RARE DISEASE ADVISORY COUNCIL AND THE FIRST QUESTION WE WANTED TO ASK WAS, WHAT PATIENTS DO WE HAVE IN PENNSYLVANIA? WE DON'T EVEN KNOW WHO WE ARE SERVING BECAUSE THERE IS NO CENTRAL REPOSITORY OF WHAT DISEASES ARE SUFFERED BY THE PEOPLE IN OUR STATE. SO IMMEDIATELY WE GO TO REGISTRIES BUT THAT'S NOT EVEN CLOSE TO WHAT WE NEED BECAUSE FIRST OF ALL, THERE IS A WHOLE GROUP OF PEOPLE LIKE PEOPLE WITH NARCOLEPSY WHO DON'T WANT TO BE ON A REGISTRY BECAUSE THEY ARE WORRIED ABOUT THEIR DRIVER'S LICENSES. THERE IS A LOT OF PEOPLE WITH REALLY EXPENSIVE DISORDERS THAT DON'T WANT TO BE ON ANY REGISTRIES BECAUSE THEY ARE AFRAID THEIR INSURANCE WILL BE DENIED IF IT'S ANY KIND OF PULIC THING. AND SO I'M WONDERING IF THERE IS ANY MOVEMENT TO -- ASIDE OF THAT, THE FIRST THING WE THOUGHT IS WE'LL USE ICD CODES. EVERYBODY UP KNOWS THERE IS ONLY A COUPLE HUNDRED ICD CODES WHEN THERE ARE 7000 RARE DISORDERS. IS THERE ANY MOVEMENT TO COME UP WITH SOME KIND OF COMPANION NUMBERING SYSTEM THAT WE CAN ATTACH TO MEDICAL FILES SO WE CAN DO SURVEYS THROUGH INSURANCE OR WHATEVER DATA WE HAVE, MEDICARE, MEDICAID? WE NEED LIKE 7000 NUMBERS WITHOUT THE POLITICS OF ICD. >> I'LL MENTION THAT YES, WE HAVE ICD CODE THAT HELPS. BUT THERE IS ALSO INACCURATE CODING. I MEAN, WE GET A LOT OF GIRLS IS A POSSIBILITY THAT THE GOOD X COULD BE MASKING OR LESS SO THE BAD X. BUT THAT IS JUST STATISTICALLY NOT FEASIBLE IN WHAT WE ARE SEEING. ICD CODES. I REALLY THINK IT'S A LOT ABOUT JUST CREATING AWARENESS AND I KNOW ON SOCIAL MEDIA -- BECAUSE SOCIAL MEDIA IS A WAY FOR PEOPLE TO REACH OUT TO YOU AS WELL. >> BUT I'M TALKING ABOUT STATE-LEVEL INFORMATION. LIKE I. >> SO THE OTHER THING IS, THERE IS -- AND FORGIVE ME I DON'T KNOW ENOUGH ABOUT YOUR DISEASE TO HAVE A TARGETED RESPONSE HERE. BUT SOMETHING THAT WE HAVE CONSIDERED IS GOING TO LARGE GENETIC TESTING IS HUGE THESE DAYS. AND WORKING IN A CONFIDENTIAL MANNER WITH OTHER LABS WHO ARE DOING TESTING. THAT TAKES A LOT OF WORK, A LOT OF PARTNERSHIP, TO BE ABLE TO REALLY -- LIKE WE WANT TO UNDERSTAND, INCIDENTS, 1-300,000? AND GETTING POPULATION-BASED DATA THEREFORE IS HELPFUL TO BE ABLE TO ANSWER THAT. IT'S BECOMING MORE AND MORE FEASIBLE BECAUSE OF A DATA THAT IS BEING AGGREGATED. DOESN'T NECESSARILY MEAN IT IS EASY. >> AND I'LL ADD MAYBE FOR DENNY, IMAGINE THIS IS ALSO SOMETHING THAT OFTENTIMES RESEARCHERS THEMSELVES ARE ASKING. SO PART OF THE QUESTION YOU MIGHT ALSO WANT TO THINK ABOUT IS, HOW MUCH HAVE YOU WORKED WITH YOUR RESEARCHERS? OR IF YOU KNOW OF ANY RESEARCHERS THAT ARE IN THAT SPACE, THAT IF THIS IS AN ISSUE, THEY ALREADY THOUGHT ABOUT, THAT MIGHT GIVE YOU AN IDEA OF WHERE TO GO FORWARD. >> I MEAN, WE ARE FREQUENTLY ASKING THE QUESTION, WHAT IS THE ACTUAL INCIDENTS? WHAT IS THE FULL PHENOTYPE? BECAUSE USUALLY IN SOME OF THESE DISORDERS, WE KNOW WHAT THE CLASSICAL PHENOTYPE IS, BUT WE DON'T KNOW WHAT THE VARIANCE IN THAT PHENOTYPE IS. SO THERE ARE REALLY IMPORTANT QUESTIONS. IT'S NOT EASY TO SORT OUT. AND THAT'S THE ANSWER IN A WAY. WITH THE IMPROVEMENTS IN DIAGNOSTICS, WE ARE GOING TO LEARN ABOUT MANY OF THESE INDIVIDUALS THAT DON'T HAVE THE CLASSICAL PHENOTYPE AND I THINK THAT IS WHERE THE ADVANTAGE IS OF HAVING A REGISTRY OUT THERE THAT IS COLLECTING THOSE INFORMATION, BECAUSE IN MY EXPERIENCE, WHEN PARENTS GET THAT DIAGNOSIS, OR IF THEY ARE WITH A GOOD GENETIC COUNSELOR OR PHYSICIAN, THEY'LL GET REFERRED TO THE FAMILY GROUPS. YOU FORM THE NIGHTIS OF COLLECTING THAT INFORMATION. IT IS CRITICAL. WE HAVE GONE THROUGH THAT PROCESS OF DOWN TO THE STATE LEVEL. WHERE ARE THEY LOCATED IN THE UNITED STATES? AND THAT IS REALLY HARD INFORMATION. RESEARCHERS OFTEN DON'T HAVE IT UNLESS THEY HAVE BEEN FOLLOWING A PATIENT POPULATION. AND THEN IT IS ONLY THE GROUP THAT THEY HAPPEN TO BE FOLLOWING. SO, THAT IS A PLACE THAT THE FAMILY SUPPORT ADVOCACY ORGANIZATIONS CAN PLAY A ROLE AND HELP RESEARCHERS. HOW BROAD IS THIS DISORDER? >> AND IN MANY WAYS, YOU HAVE TO TAKE THE LEAD ON THAT BECAUSE AS IT WAS SAID HERE, THERE ARE MANY PLACES TESTING FOR DISEASES, BUT ACTUALLY THAT INFORMATION IS THEIRS. IT'S PROPRIETARY. I HAD A GRADUATE. WE KNEW SOMEONE WAS TESTING A COMPANY WAS TESTING FOR ONE OF THE GENES WE STUDIED AND I TOLD THE GRADUATE JUST CALL THEM UP AND GET THAT INFORMATION. AND OF COURSE THEY SAID, WE HAVE IT BUT IT'S PROPRIETARY. SO PEOPLE ARE COLLECTING DATA BUT NOT FOR US. >> I'M JUST LOOKING FOR A WAY TO HAVE NUMBERS FOR THESE SO THAT THEY TURN UP IN THE INSURANCE, IF THEY TURN UP IN MEDICARE OR MEDICAID WE CAN FIND THEM BECAUSE THERE IS ONLY A COUPLE HUNDRED. SO I THINK I'M GOING TO GO TO THE WORLD HEALTH ORGANIZATION AND SAY WE NEED THIS THING. >> TO BE REAL, THE INITIAL LEG WORK IS ACTUALLY YOURS. THE ADVOCACY GROUP. AND THEN YOU GATHER UP AND THEN YOU FIGURE OUT, THIS IS ALWAYS SHOWING UP AND YOU ROW PROCEED FROM THERE. >> WE HAVE FIVE MINUTES. SO I'LL PROBABLY TAKE ONE QUESTION AND THEN I'LL DO A LITTLE -- [ OFF MICROPHONE ] MAYBE WE COULD HAVE A COUPLE OF FOLKS ASKING YOUR QUESTION AND WE CAN SEE AMONG THE PANEL WHAT THEY WOULD LIKE TO ANSWER IF THAT'S OKAY. SO BACK HERE AND THEN THE ONE IN THE FRONT. >> SO I WANTED TO ASK MORE QUESTIONS ABOUT THIS IDEA OF OWNERSHIP OF THE DATA. SO I'M FROM THE INTRAMURAL PROGRAM OF NCI. WE ARE LAUNCHING A NATURAL HISTORY STUDY RIGHT NOW ON RARE CHILDREN'S TUMORS, AND ONE OF THE THINGS THAT HAS COME UP IS THIS IDEA SORT OF REGISTRY FATIGUE FOR THE PATIENTS OF, IF THEY ARE PUTTING THEIR DATA INTO THE ADVOCACY GROUP AND THEN WOULD THEY BE STILL WILLING TO GIVE IT TO US AND PUT INTO OUR SYSTEM? AND WE REALLY NEED SORT OF OUR DATA TO FULFILL OUR STUDY. SO HAS ANYBODY SORT OF THOUGHT THAT PATIENTS ARE ENTERING CAN SORT OF BE GIVEN TO THEM IN A FORM WHICH THEY CAN THEN SHARE WITH OTHERS? SO THAT THE ADVOCACY ORGANIZATIONS STILL OWNS THAT DATA AND CAN COMPILE IT, BUT THAT IT WOULD BE EASIER ON THE PATIENT TO SHARE IT WITH OTHER STUDIES? >> I HAVE AM FEELING THE NEED FOR A DATA CZAR WHERE THERE IS A COMBINATION WITH FOOD AND DRUG, NIH, WHOMEVER ELSE YOU THINK NEEDS TO BE THERE, TO DECIDE WHAT BASIC INFORMATION YOU NEED; BECAUSE THERE IS SO MUCH MORE INFORMATION NOW ABOUT HOW ONE RARE DISEASE -- AND IF YOU HAVEN'T SEEN THE JANUARY 19th ARTICLE ON A RARE DISEASE IN THE "WASHINGTON POST," PLEASE READ IT. BECAUSE IT'S FASCINATING. BUT WE HAVE GOT TO DO THAT BECAUSE IT'S JUST CRAZY. THEN ANOTHER LITTLE THING I'D LIKE TO REMIND EVERYBODY, IF YOU -- SIR, IF YOU HAVE A GROUP, LIKE A PROFESSIONAL ORGANIZATION, WE FOUND -- I HAVE A SON WITH ATAXIA, AND WHAT I FOUND OUT WAS ONE OF THE PHARMACISTS -- I CALL THEM VENDORS BUT NEVERTHELESS, ASK FOR OUR MAILING LIST FOR THE WHOLE GROUP. SO AND THE ORGANIZATION SAID, NO, WE ARE NOT GOING TO GIVE IT TO YOU. SO YOU HAVE TO BE ALERT TO WHAT YOU'RE DOING. >> FOLLOW-UP ON THE FIRST QUESTIONS I HAD. NOW THAT I HEARD YOU AND SPECIFIC TO THE NCATS AND NIH, I SAID MEDICAL COST AND ACTUALLY OVER A PURPOSE'S LIFESPAN IS CRITICAL INFORMATION. ARE YOU AT THE NIH ABLE TO EVEN PUT THAT INFORMATION INTO YOUR SYSTEM? OR ARE YOU PREVENTED BY STATUTE OR REGULATION FROM COLLECTING IT? >> I'M BETH WITH THE RESEARCH FOUNDATION. I HAVE A QUICK QUESTION. WE ARE AN INTERNATIONAL ORGANIZATION AND WE HAVE A REGISTRY ALREADY UNDERWAY. WE HAVE ABOUT 400 PEOPLE THAT ARE REGISTERED AND IT IS A INTERNATIONAL SITE SO IT HAS FIVE, APPROXIMATELY FIVE DIFFERENT LANGUAGES ASSOCIATED WITH IT. MY QUICK QUESTION IS, WE HAVE AN AFFILIATE, PER SE, THAT IS IN EUROPE THAT WOULD LIKE TO START A SECOND REGISTRY, AND I WOULD JUST LOVE TO HAVE YOUR COMMENT ABOUT STARTING A SECOND. THUMBS UP, THUMBS DOWN? THANK YOU. >> WE HAVE ONE LAST QUESTION AND THEN AFTER THAT I'M GOING TO OPEN IT UP. I'LL TRY TO REPEAT AS BEST I CAN SOME ELEMENTS AND GET SOME OF >> I'M DAN WITH. I WORK ON PATIENT REGISTRY PROGRAMS WITH MEDICALITS AND PATIENT GROUPS. MY COMMENT IS THAT NIH CONSORTIA ARE SO POWERFUL, IT'S SUCH A GREAT EXAMPLE OF WHAT COLLABORATION CAN DO. ARE THERE MORE GROUPS COMING FORWARD TO YOU THAT WANT TO FORM CONSORTIA? BECAUSE WE NOW HAVE BETTER PLATFORMS AND TECHNOLOGY TO CAPTURE DATA AND MAKE IT EASIER ON THOSE COMMUNITIES TO DO THESE LONG-TERM STUDIES. >> AND AGAIN, I'LL OPEN UP TO THE PANELISTS UP HERE. WE ARE GOING INTO LUNCH TIME RIGHT NOW. SO AGAIN WE CAN MAYBE SEE IF WE CAN RESPOND TO A FEW OF THESE AND THEN AFTER THAT, WE CAN COME UP TO US WITH QUESTIONS IF OUR PANEL EFFORTS DON'T MIND REMAINING AROUND FOR A LITTLE BIT. SO THE QUESTIONS IN GENERAL WERE AROUND GOING BACK TO DATA OWNERSHIP AND INDIVIDUAL PERSONS ABILITY TO PERHAPS OWN THEIR DATA. A QUESTION ON ESSENTIALLY COMMON DATA AMONG THE ENTIRE FIELD OF RARE DISEASES. A QUESTION REGARDING STAT STATUTORY LIMITS REGARDING CAPTURING OF DIFFERENT TYPES OF INFORMATION SUCH AS ECONOMIC DATA. AND THEN A QUESTION AROUND SHOULD I CREATE A SECOND REGISTRY? LASTLY A QUESTION, MORE ABOUT WITH WHERE THINGS ARE GOING AND MORE AND MORE FOCUS ON ABILITY TO CAPTURE DATA AND THESE CONSORTIA WHERE ARE THINGS GOING WITH THAT ESSENTIALLY? >> SO I THINK ULTIMATELY, I WOULD LIKE TO SEE PATIENTS JUST OWN THEIR DATA AND GO WITH THE USB DISK TO THE REGISTRY AND DEPOSIT IT. I THINK THAT WILL BE THE FUTURE. AND THEN, THERE AREN'T A LOT OF ISSUES OF -- AND THEN I GUESS THE IDEA ABOUT STARTING A SECOND REGISTRY, I DON'T KNOW THAT THAT IS FEASIBLE. I THINK THE TWO REGISTRIES SHOULD MEET IN THE MIDDLE. BUT AS LONG AS A PATIENT STARTS TO OWN THEIR DATA, THESE THINGS WILL BE MUCH EASIER. THAT'S MY OPINION. JUST OPINION. SPEAKING AS ME. >> AS A RESEARCHER, I WOULD SAY I WOULD REALLY LIKE TO SEE THE DATA IN THE HANDS OF THE PATIENT ADVOCACY GROUPS. AS A RESEARCHER, I COME TO YOU AND SAY, HERE IS MY PLAN. HERE IS MY ETHICAL APPROVAL. CAN WE ANSWER THIS QUESTION WITH YOU? >> AND THEN FROM THE PATIENT ADVOCACY PERSPECTIVE, YOU HAVE TO -- THIS MIGHT SOUND ACROSS AND I DON'T MEAN IT TO BUT MAKE IT FUN. LIKE FIND A WAY THAT PUTTING DATA IN THE REGISTRY IS NOT CHURCHINGY, CLICK HERE AND CLICK THERE AND -- PEOPLE HAVE EXPECTATIONS THESE DAYS ON USING TECHNOLOGY AND IT SHOULD BE DYNAMIC, ENGAGING. AND SO WE ARE TRYING TO FIND WAYS TO APPEAL TO THE HUMAN PSYCHE AND ALSO GIVE BACK, LIKE WE DON'T WANT THEM TO JUST GIVE US DATA. IT'S INCUMBENT ON US TO GIVE BACK TO THEM. SO IT'S A RECIPROCITY. AND THAT ALSO IS POSITIVELY REINFORCING MORE DATA BEING ENTERED. >> AND FROM A REGULATORY PERSPECTIVE, PERSONALLY, I THINK IT IS IMPORTANT TO PLAN EARLY AND OFTEN. SO TO THINK EARLY ABOUT WHAT IS THE INTENTION OF THE REGISTRY OR THE NATURAL HISTORY STUDY AND HOW IS IT PROPELLING YOU TOWARDS YOUR GOALS? AND THAT WILL INFLUENCE A LOT OF WHAT IS COLLECTED AND HOW IT IS COLLECTED. ALSO, I WANT TO SAY WE FOCUSED A LOT TODAY ON NATURAL HISTORY STUDY AND REGISTRIES AND THOSE ARE CRIMINALICALLY IMPORTANT AND ALSO THE OFFICE OF ORPHAN PRODUCTS, WE HAVE CLINICAL TRIAL GRANTS AND A RECEIPT DATE ON JUNE 25. THERE ARE OTHER FORMS OF DATA THE WE THINK ARE CLEARLY IMPORTANT AND HOPEFULLY WILL PROPEL MEDICAL PRODUCT DEVELOPMENT FOR RARE DISEASES. THANK YOU. >> SO I KNOW WE ARE STANDING BETWEEN YOU AND LUNCH. I'LL DO A QUICK PLUG AGAIN FOR THE RADAR WEBSITE. THIS IS SOMETHING WE'LL CONTINUALLY ADD TO. TAKE A LOOK AT IT. IF YOU WANT TO INFORM US WHERE TO GO WITH THIS, GO TO ROOM DO. HELP WITH OUR USABILITY TESTING. -- ROOM D. FOLKS FROM THE PAS OR PATIENT AFFAIR STAFF FROM FDA, RAISE YOUR HAND AGAIN JUST TO LET YOU KNOW. FOLKS FROM ORDR OR OFFICE OF DISEASE RESEARCH AT NIH, IF YOU CAN RAISE YOUR HAND. SO WE ARE AROUND IF YOU HAVE OTHER QUESTIONS AS WELL AS THERE ARE MANY DIFFERENT MENTORS AS WELL AS DIFFERENT ORGANIZATIONS HERE TO LOOK TO. SO I WANT TO THANK OUR PANELISTS AND I THANK EVERYONE THAT IS PARTICIPATING IN THIS. [ APPLAUSE ] >> THANK YOU AGAIN AND THANK YOU FOR STICKING WITH US. I WANTED TO JUST START OFF THE AFTERNOON WITH A SPECIAL SESSION FOCUSED ON SOME OF THE CHALLENGES INVOLVED IN STUDYING RARE CANCERS AND POTENTIAL STRATEGIES TO OVERCOME THESE CHALLENGES TO ADVANCE THE RESEARCH AND DEVELOPMENT OF THERAPIES OF THESE RARE CANCERS. SO I WOULD LIKE TO INTRODUCE DR. ABBY SAND LER AND HER PANELISTS TO COME ON STAGE. DR. SANDLER IS FROM THE CENTER FOR CANCER RESEARCH, CCR, HERE AT THE NATIONAL CANCER INSTITUTE. SHE HAS BEEN AT NCI FOR THE PAST 20 YEARS AND HAS A WEALTH OF INFORMATION TO SHARE ABOUT HER EXPERIENCE HERE, SO WITHOUT FURTHER ADO, I'M GOING TO HAVE DR. SANDLER GET THE SESSION STARTED AND THE PANELIST ALSO GO INTO THEIR REMARKS AS WELL. >> THANKS, ALICE, AND I WANT TO SAY A THANK YOU TO THE RARE DISEASE ORGANIZING COMMITTEE FOR GIVING US THE CHANCE TO HOLD THIS SESSION TODAY ON RARE CANCERS. WE'RE VERY EXCITED TO BE HERE, AND WE'RE GOING TO GET STARTED VERY QUICKLY. I DON'T HAVE A LOT TO SAY. I JUST WANT TO INTRODUCE THE SESSION BY SAYING IN KEEP WGHT THEME OF THE DAY, RARE CANCERS REALLY AREN'T A ALL THAT RARE. COLLECTIVELY, THEY MAKE UP A LITTLE OVER A QUARTER OF ALL CANCER DIAGNOSES AND ARE RESPONSIBLE FOR ABOUT A QUARTER OF ALL CANCER DEATHS. SO WHILE THERE ARE MANY, MANY DIFFERENT TYPES OF CANCERS THAT WE CONSIDER RARE, THEY ARE A BIG DEAL AND THEY'RE A BIG CHALLENGE AND WE'RE GOING TO TALK A LITTLE BIT TODAY ABOUT SOME OF THOSE CHALLENGES AND SOME OF THE THINGS OUR INCREDIBLE PEOPLE ON THE PANEL ARE DOING TO OVERCOME SOME OF THOSE CHALLENGES. WE HAVE RESEARCHERS, WE HAVE ADVOCATES, WE HAVE PEOPLE WHO ARE BOTH, AND THEY HAVE A LOT OF WISDOM TO SHARE WITH YOU ABOUT THE THINGS THAT THEY'RE DOING. SO WE'RE GOING TO TO START BY HAVING THEM EACH TAKE A FEW MINUTES AND TELL YOU A LITTLE ABOUT WHAT THEY ARE DOING IN THIS RARE CANCER SPACE, WE'LL HAVE A LITTLE DISCUSSION HERE, THEN WE'LL OPEN IT UP FOR THE AUDIENCE TO ASK QUESTIONS. SO WITHOUT FURTHER ADO, I'M GOING TO PASS TO MY NCI COLLEAGUE, DR. CARLENE RAYLY. >> HI. CAN EVERYONE HEAR ME OKAY? SO I'M GOING TO TRY TO ADVANCE THE SLIDE MAYBE. SO I'M THE DIRECTOR OF THE RARE TUMOR INITIATIVE IN THE INTRAMURAL PROGRAM OF NCI AND THE CENTER FOR CANCER RESEARCH. I'M GOING TO TALK A LITTLE BIT ABOUT HOW WE HOPE THAT WE CAN FIT IN TO THIS RARE TUMOR SPACE. I PUT HERE SORT OF THE MISSION OF THE CENTER FOR CANCER RESEARCH, WHICH IS TO IMPROFIT LIVES OF CANCER PATIENTS BY SOLVING, CHALLENGING AND NEGLECTED PROBLEMS IN PATIENT RESEARCH AND CANCER CARE. ONE OF THE WAYS THIS IS SORT OF GOING FORWARD IS THE IDEA THAT WE CAN REALLY BE A PLACE WHERE RARE CANCER RESEARCH CAN BE DONE IN A WAY THAT MAY NOT BE ABLE TO BE ACHIEVED ON THE OUTSIDE BECAUSE WE ARE -- SORT OF HAVE SOME STABLE FUNDING, WE'RE NOT AS RELIANT ON GRANTS, WE DON'T HAVE TO WORRY ABOUT OUR BOTTOM LINES AT THE HOSPITAL, SO WE'RE REALLY TRYING TO WORK TO HELP WITH THIS IDEA OF FINDING CURES FOR RARE CANCERS AND UNDERSTANDING THEM. SO IN ADDITION, I JUST WANT TO POINT OUT THAT ALL PEDIATRIC CANCERS, ALL SARCOMAS AND ALL NERVOUS SYSTEM CANCERS ARE CONSIDERED RARE. SO I WORK IN THE PEDIATRIC ONCOLOGY BRANCH, ALSO WORKING CLOSELY WITH COLLEAGUES IN THE NEURO-ONCOLOGY BRANCH TO TRY AND COME UP WITH AN UNDERSTANDING OF PEDIATRIC YOUNG ADULT CANCERS AS WELL AS BRAIN CANCERS AND SPINAL CANCERS. SO THE SLIETD LISTS THE MAIN INITIATIVES IN THE INTRAMURAL PROGRAM AT THE CENTER FOR CANCER RESEARCH. WE HAVE THE NCI RARE TUMOR INITIATIVE, AND THIS IS REALLY TO TRY AND FOCUS ON GETTING A BETTER COLLABORATION BETWEEN BASIC RESEARCHERS AND CLINICAL RESEARCHERS WITHIN THE CCR. SO IT'S REALLY TRYING TO MAXIMIZE OUR ADVANTAGES AND MAKE SURE THAT WE ARE GOING FROM BENCH TO BEDSIDE AND BACK AS EFFICIENTLY AND AS QUICKLY AS POSSIBLE. A NEW INITIATIVE IS CALLED MY PART, AND OUR WEBSITE JUST WENT LIVE LAST NIGHT, WE'RE VERY EXCITED TODAY, AND THIS STANDS FOR "MY PEDIATRIC AND ADULT RARE TUMOR NETWORK," AND WE'RE AT TABLE 41 IF YOU WANT TO STOP BY AND SAY HI, AND THIS IS GOING TO BE PRIME LEA A NATURAL HISTORY STUDY BUT ALSO AN ADVOCACY NETWORK, AND REALLY, WE WANT IT TO BE A PATIENT ENGAGEMENT NETWORK WHERE WE WORK WITH PATIENTS, FAMILY MEMBERS, ADVOCATES, RESEARCHERS AND CLINICIANS TO REALLY DO A FULL ASSAULT ON RARE CANCERS IN YOUNG PEOPLE. SO THEN FINALLY I JUST PUT UP THE INFORMATION FOR NCI CONNECT, WHICH IS OUR NEURO-ONCOLOGY PARTNERS. THIS IS THE NCI COMPREHENSIVE ONCOLOGY NETWORK EVALUATING RARE CNS TUMORS. I JUST WANT TO GIVE YOU A LITTLE BIT OF BACKGROUND ON MY PART. THIS IS A NETWORK OF PATIENTS, FAMILY MEMBERS, ADVOCATES, CLINICIANS, SCIENTISTS AND HEALTHCARE PROVIDERS DEAD KAYED TO IMPROVING THE LIVES OF YOUNG PEAM WITH PEOPLE WITH RARE SOLID TUMORS. WE WANT PATIENTS TO FULLY APPRECIATE AND UNDERSTAND HOW VALUABLE THEIR INPUT IS TO OUR RESEARCH, AND WE WANT TO BE ABLE TO GIVE THEM BACK INFORMATION FROM THE WORK THAT THEY'RE HELPING US WITH. WE ARE LEARNING ABOUT THE NATURAL HISTORY AND ALSO THE PATIENT EXPERIENCE, SO IT'S VERY FOCUSED ON MOLECULAR DATA OF THE TUMORS BUT ALSO PATIENT-REPORTED OH OUTCOMES, AND REALLY THE GOAL IS TO TRY AND GATHER INFORMATION THAT WOULD ALLOW FOR POWERFUL CLINICAL TRIALS AND DEVELOPMENT OF NEW TERRITORIMENTS. WE WANT TO FOSTER COMMUNICATION AND COLLABORATION IN THE RARE TUMOR RESEARCH SPACE AND I THINK THAT WHENEVER WE TALK ABOUT SMALL NUMBERS OF PATIENTS, THIS IS REALLY CRITICAL, THAT IT HAS TO BE COLLABORATIVE AND NOT COMPETITIVE, SO WE'RE VERY INTEREST INTERESTED IN TALKING TO PEOPLE ABOUT HOW TO BEST ACHIEVE THAT. FINALLY, WE JUST WANT IT TO LOOK FOR WHERE THE BARRIERS ARE AND LOOK FOR WAYS TO OVERCOME THEM. SO THAT'S WHAT WE'RE WORKING ON IN THE INTRAMURAL PROGRAM OF THE CENTER FOR CANCER RESEARCH. >> I'M DENISE REINKE -- OUR NEXT SPEAKER WILL BE JACK WELCH, ALSO FROM NCI. >> THANKS. SO I'LL TALK TO YOU A LITTLE ABOUT INTERNATIONAL CLINICAL TRIALS IN RARE CANCERS. SO YOU HEARD ABOUT RESEARCH AT NCI. WE HAVE OTHER DOMESTIC RESOURCES FOR RARE TUMOR TRIALS. WE HAVE THE 70 NCI DESIGNATED CANCER CENTERS, WE HAVE A NATIONAL NETWORK, THE NATIONAL CLINICAL TRIAL NETWORK, 3,000 INSTITUTIONS THAT ARE COOPERATING ON LARGE SCALE TRIALS. THE NCI COMMUNITY ONCOLOGY PROGRAM RUNNING TRIALS LIKE THE 6,000 PATIENT MATCH, ONE-THIRD OF WHICH WERE RARE CANCER PATIENTS. THOSE NETWORKS ARE REALLY DESIGNED FOR LARGE SCALE LARGE DISEASES, NOT REALLY OPTIMIZED FOR RARE CANCERS. VERY HARD TO HAVE A HOSPITAL OPEN A TRIAL WHERE THEY MAY SEE ONE PATIENT OR TWO PATIENTS A YEAR AND TO KEEP IT OPEN AND TO HAVE THE TRIAL FINISH. SO IF WE GO BEYOND WHAT WE HAVE DOMESTICALLY, WE HIT INTERNATIONAL. I'M SURE IT'S THE CASE IN OTHER RARE DISEASES THAT EXPERTISE IN PATIENTS TEND TO CLUSTER. YOU'LL EVENTUALLY FIGURE OUT WUR NEED TO OH GO. THE ARETINOBLASTOMAS ARE PROBABLY GOING TO HEAD TO PHILADELPHIA, PEOPLE WILL SORT THEMSELVES OUT, SO YOU MAY HAVE ONE OR TWO CENTERS REALLY IN A COUNTRY THAT ARE GOING TO A STUDY, SO YOU NEED TO THROW A WIDER NET, EVEN THOUGH WE HAVE SOME WIDE NETS, WE NEED THEM VERY FINALLY GRAINED. SO THAT'S WHERE THIS CAME FROM, THE INTERNATIONAL RARE CANCER INITIATIVE. SO BACK IN 2011, NCI SPOKE TO COLLEAGUES IN EUROPE, THE CANCER RESEARCH UK, THE NATIONAL CANCER RESEARCH INFRASTRUCTURE, AND WE DECIDED THAT WE'D TRY TO SEE IF THERE WAS SOME SPACE WHERE WE COULD WORK TOGETHER ON RARE CANCERS, AND WE IDENTIFIED THREE CRITERIA FOR WHAT WE WOULD ATTACK. WE WOULD LOOK AT CANCERS THAT NONE OF US COULD STUDY ON OUR OWN. WE WANTED TO DO CANCERS WHERE THERE WAS NO FORUM FOR THEM TO COME TOGETHER OTHERWISE, IT WOULDN'T HAPPEN, AND WE WANTED TO COULD STUDIES WHERE THERE WAS AN IDEA FOR A DEFINITIVE TRIAL. SO WE DID THAT, AND IT TOOK A NUMBER OF YEARS TO SPIN UP, I COULD SPEND THE REST OF THE DAY TELLING YOU WHY IT IS DIFFICULT TO DO RARE CANCER TRIALS. I ASSUME IT'S THE SAME AS RARE ANYTHING TRIALS. INTERNATIONALLY, REGULATORY OPERATIONAL LOGISTICS, DRUGS, DATA PRIVACY. BUT WE SPENT A NUMB BEG YOUR PARDON OF YEARS GETTING IT GOING AND ALONG THE WAY, FRANCE, JAPAN, AUSTRALIA, CANADA JOINED AS WELL, THEY'RE NATIONAL NETWORKS, SO WE'VE GOT A PRETTY GOOD NETWORK NOW. WE FINISHED STUDIES IN OCULAR MYELOMA, WE JUST PUBLISHED THE FIRST AND I WOULD SAY THE DEFINITIVE STUDY FOR METASTATIC ANAL CARCINOMA, THAT'S NOW THE WORLD STANDARD, AND WE'RE ITERATING ON THEM NOW GOING INTO OUR SECOND PHASE, TRYING TO BUILD ON BACKBONES THAT WE DEFINED, BRINGING IN A NEW MOLECULE, SO WE HAVE STUDIES GOING IN PENILE, SMALL BOWEL AND WE HAVE ANOTHER THREE ORE FOUR WORKING GROUPS COMING UP WITH NEW TRIALS, SO I GUESS THE BOTTOM LINE IS, INTERNATIONAL TRIALS CAN BE DONE, SOMETIMES THEY'RE THE ONLY ANSWER, THAT TAKE A LOT OF PERSEVERANCE TO GET GOING, THERE ARE A LOT OF TECHNICAL OBSTACLES BUT IT POSSIBLE AND WE'VE HAD SOME SUCCESSES. >> THANKS. OUR NEXT SPEAKER WILL BE DENISE REINKE FROM SARC. >> I'M THE CEO OF SARCOMA ALLIANCE FOR RESEARCH THROUGH COLLABORATION. I'M JUST SO DELIGHTED TO BE PART OF THIS RARE DISEASE DAY AND REALLY CONNECT WITH SOME OTHER PEOPLE WHO ARE GRAPPLING WITH OTHER RARE ILLNESSES AND THAT WE CAN SHARE SOME OF OUR COMMON ISSUES AND CONCERNS AND I'M PARTICULARLY DELIGHTED TO BE PART OF THE CANCER BUT WE'RE FOCUSING ALSO ON CANCER IN ADDITION TO RARE DISEASE AS KIND OF A DWELLING DOWN INTO A LITTLE MORE OF THE AREA AND VERY SPECIFICALLY, THE AREA OF SARCOMA, WHICH IS A RARE TYPE OF CANCER. SO IF WE PUT IT INTO PERSPECTIVE, WE'VE TALKED ABOUT HOW THERE ARE PROBABLY 25 TO 30 MILLION AMERICANS WHO ARE DEALING WITH RARE DISEASES AND THAT THERE ARE OVER 7,000 OF THEM, AND THEN WHEN WE THINK OF CANCER, THAT THERE ARE 1.7 MILLION AMERICANS THAT WILL BE DIAGNOSED WITH CANCER, MANY OF THOSE, AS ABBY POINTED OH OUT, WILL FALL INTO THAT CATEGORY OF A RARE DISEASE AFFECTING 200,000 OR LESS. WELL, THEN WHEN WE PUT IT INTO CONTEXT, SAR CO, IT'S ESTIMATED THAT IN 2019, THERE WILL BE ABOUT 16,250 NEW CASES OF SARCOMA DIAGNOSED IN THE UNITED STATES, SO IT GIVES YOU A SENSE OF THE RARITY. SO WHEN WE THINK ABOUT US HAVING THIS DISCUSSION TODAY, WHY SARCOMA, REALLY SARCOMA IS A REALLY GOOD MODEL FOR US TO LOOK AT IN THE RARE DISEASE SPACE TO SAY IT OCCURS IN LESS THAN 1% OF ALL ADULTS WITH CANCERS, ALL ADULT CANCERS, AND 15% OF PEDIATRIC CANCERS, AND WE KNOW THAT WITHIN THAT GROUP, THAT THAT IS FURTHER DIVIDED BY 60 DIFFERENT SUBTYPES, WHICH EACH KIND OF BEHAVE IN A DIFFERENT WAY AND HAVE TO BE TREATED AS A DIFFERENT DISEASE. SO WHEN WE'RE TALKING ABOUT A RARE CANCER, THIS GIVES US AN OPPORTUNITY IN TALKING ABOUT SARCOMA, HOW DO WE ADDRESS SOME OF THE PROBLEMS AND CHALLENGES IN THIS SPACE. AND THEN THE LITTLE PICTORIAL THERE SHOWS THE OTHER UNIQUE FEATURE OF SARCOMA IS THAT IT CAN OCCUR ACROSS THE SPAN, THE AGE SPAN, SO IT CAN OCCUR IN NEWBORNS, YOUNG ADULTS, OLDER ADULTS, AND SO THIS GIVES US A UNIQUE OPPORTUNITY TO BRING TOGETHER DIFFERENT AREAS OF EXPERTISE TO HELP ADDRESS THIS PROBLEM AND MAKE PROGRESS FOR PATIENTS. SO LASTLY THEN, WHY SARC, SO THE SARCOMA ALLIANCE THROUGH RESEARCH COLLABORATION WAS STARTED BY A GROUP OF INVESTIGATORS BASIC AND CLINICAL INVESTIGATORS WHO KNEW THAT IN ORDER TO MAKE PROGRESS, AND HELP PATIENTS, THEY NEEDED TO POOL THEIR RESOURCES, THEY NEEDED TO WORK TOGETHER, POOL THEIR INTERTHE ELECT, WHAT'S THE RIGHT THING TO DO, POOL THE LIMITED FINANCIAL RESOURCES THAT ARE AVAILABLE, AND BECAUSE THESE DISEASES OCCUR IN A LIMITED POPULATION, YOU HAVE TO BE REALLY SMART ABOUT THE WORK THAT THEY WERE GOING TO BE DOING TO ANSWER THE QUESTIONS AND MAKE PROGRESS, AND WHAT ARE THE CORE VALUES THIS ORGANIZATION WAS STARTED WITH, THE INVESTIGATORS, SO THIS IS AN ACADEMIC RESEARCH CONSORTIUM, NON-PROFIT, STARTED WITH THE RESEARCH COMMUNITY, TO WORK TOGETHER TO MAKE PROGRESS. SO WITHIN THE NAME, THE SARCOMA ALLIANCE FOR RESEARCH THROUGH COLLABORATION, COLLABORATION WAS A CORE VALUE OF THE FOUNDING MEMBERS OF THIS OH ORGANIZATION THIS ORGAN IZATION BECAUSE THEY RECOGNIZE COLLABORATION WAS KEY TO MAKING PROGRESS IN THIS RARE DISEASE. SO WITH THAT, I'LL PASS IT ON. >> GREAT. OKAY. THANKS, DENISE. WE'RE NEXT GOING TO HAD HEAR FROM JIM PALMA FROM THE TARGET CANCER FOUNDATION. >> THANK YOU. AND THANK YOU FOR HAVING ME HERE TODAY. IT'S REALLY AN HONOR TO BE A PART OF THIS PROGRAM TODAY AND THANK YOU ESPECIALLY FOR INCLUDING RARE CANCERS IN THIS. I'M REALLY GRATEFUL TO HAVE THE OPPORTUNITY TO TALK ABOUT MY OWN EXPERIENCE AND THAT OF MY FAMILY, SO I'M JIM PALMA, I'M THE EXECUTIVE DIRECTOR OF TARGET CANCER FOUNDATION. I'M ALSO ON THE BOARD OF DIRECTORS AT NORD, THE NATIONAL ORGANIZATION FOR RARE DISORDER, AND AM A CO-CHAIR OF THE RARE CANCER COALITION AT NORD. BUT TARGET CANCER FOUNDATION IS AN ORGANIZATION THAT EXISTS BECAUSE OF ONE PARTICULAR PATIENT, AND THAT PATIENT IS MY BROTHER-IN-LAW, PAUL POST, DIAGNOSED A CHOLANGIOCARCINOMA WHEN HE WAS 38 YEARS OLD. AND PAUL WAS OBVIOUSLY A YOUNG PERSON AND SOMEBODY WHO HAD NO PRIOR HEALTH ISSUES, NO FAMILY HISTORY, HE WAS A NEW DAD, SOMEONE WHO HAD NO REASON TO EXPECT THAT HE WOULD BE FACING A CANCER DIAGNOSIS, NO LESS A DIAGNOSIS LIKE CHOLANGIOCARCINOMA, WHICH NONE OF US HAD EVER HEARD. SO OBVIOUSLY THIS WAS A SHOCK, AND THE REAL SHOCK FOR US, I THINK CAME A LITTLE BIT LATER, THOUGH, BECAUSE I THINK AS TERRIFYING AS A CANCER DIAGNOSIS IS, IT'S REASONABLE TO THINK THAT WHERE WE ARE IN 2009 AT THAT POINT OR EVEN TODAY, WITH ALL THE PROGRESS THAT'S BEING MADE, ALL THE FUNDING AND ALL OF THE WORK THAT'S BEING DONE, AT THE VERY LEAST, SOMEBODY MIGHT EXPECT TO HAVE A GOOD SHOT OF BEING TREATED SUCCESSFULLY FOR THEIR CANCER, BUT UNFORTUNATELY IN MANY RARE CANCERS, THAT'S NOT THE CASE AND THAT WAS CERTAINLY TRUE FOR PAUL, WHO JUST UNDER TWO YEARS OF TREATMENT THAT HE RECEIVED, REALLY NEVER RECEIVED A TREATMENT THAT WAS EFFECTIVE OR SLOWED THE PROGRESSION OF HIS CANCER. SO BEING SOMEBODY WHO REALLY WAS INCLINED TO TAKE ACTION IN THIS TYPE OF SITUATION, PAUL DECIDED THAT HE WOULD START A FOUNDATION TO ADDRESS THE REASONS WHY HE WAS BEING TOLD NO TREATMENTS EXISTED, WHICH HIS DOCTORS BASICALLY TOLD HIM THIS IS A VERY RARE CANCER AND NOBODY IS STUDYING IT. SO HE THOUGHT THAT HE WOULD START A FOUNDATION TO BEGIN RAISING MONEY AND BEGIN FUNDING RESEARCH INTO RARE CANCERS. SO TARGET CANCER TOWN FOUNDATION WAS BORN OUT OF THAT EXPERIENCE AND WHILE PAUL WAS STILL ALIVE, HE FUNDED HIS FIRST GRANT AT THE CENTER FOR MOLECULAR THERAPEUTICS AT THE MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER, WHICH IN RETROSPECT TOOK INCREDIBLE FORESIGHT ON HIS PART BECAUSE IT WAS AT THE ADVENT OF MOLECULARLY TARGETED THERAPIES IN CANCER, WHICH OF COURSE NOW IS A PRIMARY WAY OF TREATING CANCER. HE PASSED AWAY SHORTLY AFTER MAKING THAT GRANT, BUT AT THAT TIME, MY SISTER, HIS WIFE, KRISTEN PALMA, WHO'S HERE TODAY, DECIDED TO KEEP THE FOUNDATION GOING AND WE'VE BEEN AT IT EVER SINCE AND WE'LL REACH OUR 10-YEAR ANNIVERSARY NEXT MONTH. SO THE PRIMARY PURPOSE OF OUR WORK HISTORICALLY HAS BEEN TO FUND RESEARCH INTO RARE CANCERS, BUT VERY SPECIFICALLY TO REALLY FUND THE CREATION OF THE FOUNDATIONAL ELEMENTS OF RARE CANCER RESEARCH WHICH IN COMMON CANCERS MAY EXIST IN GREAT NUMBERS AND IN ROBUST WAYS BUT OFTEN IN RARE CANCERS DOESN'T EXIST AT ALL. THAT INCLUDES THINGS LIKE CELL LINES, MOUSE MODELS, GENOMIC STUDIES, THE TYPES OF THINGS THAT LOWER THE BARRIER TO ENTRY FOR OTHER RESEARCHERS AND ALLOW OTHER PEOPLE TO COME IN TO A RARE CANCER AND ULTIMATELY, WE HOPE, ALSO LOWER THE BARRIER FOR DRUG COMPANIES TO GET INVOLVED AND START TAKING AN INTEREST IN DEVELOPING DRUGS BECAUSE THESE TOOLS EXIST. IN ADDITION TOO RESEARCH, WE WORK DIRECTLY WITH PATIENTS ON PATIENT GUIDANCE AND OF NAVIGATION AROUND THE UNIQUE CHALLENGES OF A RARE CANCER DIAGNOSIS, AND WE ALSO ARE DOING A LOT OF WORK TODAY IN WAYS THAT WE CAN PARTNER WITH PATIENTS AND ENGAGE THEM IN THE RESEARCH PROCESS THROUGH OUR PART MER PARTNERSHIP WITH CORRIE'S ORGANIZATION AT THE BROAD INSTITUTE WHICH I THINK SHE'LL TELL YOU YOU MORE TELL YOU MO RE ABOUT. >> HI. I'D LIKE TO TAKE A COUPLE MOMENTS AND REALLY THANK MY FELLOW PANELISTS FOR EVERYTHING THEY'RE DOING, EVERYTHING THEY'VE SAID AND EVERYTHING THEY'RE GOING TO DO IN THE FUTURE FOR ALL OF US AND I'D LAKE TO THANK THE NIH AND EVERYBODY IN THIS ROOM FOR ACCEPTING US HERE TODAY. AS SOMEBODY WHO IS BOTH -- I'VE BEEN DIAGNOSED WITH AN EXCEEDINGLY RARE CANCER AND I'M ALSO A SCIENTIST, I CAN SAY THAT WHAT I'VE HEARD TODAY, THERE ARE SO MANY COMMONALITIES. YOU CAN SAY THAT THE LACK OF FUNDING IS COMMON AMONG RARE CANCERS, JUST LIKE IT IS IN RARE DISEASES. YOU CAN SAY THAT THE LACK OF EXPERTISE IS COMMON AMONG RARE CANCERS AS IT IS IN RARE DISEASES, THAT WE SUFFER FROM SOME OF THE SAME LACK OF INFRASTRUCTURE, LACK OF INTEREST AND LASK MONEY AND IF WE COULD FIND COMMON GROUND THAT WE COULD BUILD THAT INFRASTRUCTURE, ALL OF US COULD LEVERAGE IT AT THE SAME TIME. I THINK THAT'S WHAT MY PERSONAL INTEREST IS AND WHAT WE'RE TRYING TO DO AS PART OF THE INITIATIVE THAT I'M HERE TO TALK ABOUT, WHICH IS CALLED "COUNT ME IN." I'M NOT GOING TO GO INTO TOO MUCH DETAIL, BUT COUNT ME IN IS AN NICHE OFTIVE THAT SPUN OUT OF THE BROAD INSTITUTE OF MIT AND HARVARD AND WE SPUN THIS OUT WITH THE EMERSON COLLECTIVE AND YOU CAN LOOK FOR YOURSELVES ON YOUR PHONE, THIS IS PROBABLY THE ONLY TIME SOMEBODY WILL ASK YOU TO STOP LOOKING AT THAT BUT IF YOU LOOK AT JOINCOUNTMEIN.ORG TO SEE WHAT WE'RE UP TO. PATIENT PARTNERED GENOMICS RESEARCH ACROSS COMMON AND RARE CANCERS SO THAT WE CAN GENERATE FREELY AVAILABLE DATA THAT CONSISTS OF PATIENT-REPORTED DATA, CLINICAL DATA TAKEN FROM MEDICAL RECORDS, AS WELL AS JEA KNOW MIBG DATA, PUT IT IN TO THE PUBLIC DOMAIN FOR FREE, UNTETHERED TO PUBLICATIONS AND/OR OTHER THINGS THAT MAY HOLD IT BACK IN SILOS SO THAT WE CAN TRY AND ALLOW THE RESEARCH COMMUNITY TO COME ABOUT THIS INFORMATION AND DATA AT A MUCH GREATER RATE AND HOPEFULLY MAKE DISCOVERIES THAT WILL LEAD TO BETTER TREATMENT OPTIONS FOR PATIENTS AND ULTIMATELY CURES. >> GREAT. THANK YOU. SO I WANT TO TAKE ADVANTAGE OF THE COLLECTIVE EXPERTISE WE HAVE UP ON THE STAGE AND TALK A LITTLE BIT ABOUT THE TITLE OF OUR SESSION WAS BUILDING STRONG FOUNDATIONS ANDED WE THINK ABOUT RESEARCHERS AND PATIENTS AND ADVOCACY ORGANIZATIONS BEING SUCH A STRONG PART OF THAT FOUNDATION. WHAT CAN WE DO, HOW CAN WE DO A BETTER JOB TO STRENGTHEN THOSE INTERACTIONS IN ORDER TO COLLECTIVELY MOVE THIS ALL FORWARD? >> I THINK CLEARLY MEETINGS LIKE THIS, THERE'S NOTHING THAT TRUMPS MEETING FACE TO FACE GETTING PEOPLE TO OH UNDERSTAND WHAT YOUR KIND OF COMMON BARRIERS AND OBSTACLES ARE, IT'S REALLY SO KEY TO EXPANDING YOUR HORIZON AND COMING UP WITH SOME CREATIVE WAYS TO DEAL WITH THE CHALLENGES THAT WE ALL FACE. YOU KNOW, I THINK THAT AS CORRIE POINTED OH OUT, OUT, RARE DISEASES AND RARE CANCERS ARE SHARING SOME OF THE VERY COMMON ISSUES. EVEN THOUGH SARC HAS BEEN IN EXISTENCE FOR 16 YEARS, I CAN TELL YOU EVERY DAY IT REMAINS A CHALLENGE, EVERY DAY KIND OF BOOTSTRAPPING TOGETHER, FUNDING, GETTING THE RIGHT GROUP OF SCIENTISTS TOGETHER IN THE ROOM TO DESIGN THAT STUDY, ENGAGING THE PATIENT ORGANIZATIONS, THERE ARE 27 DIFFERENT GROUPS OF SARCOMA PATIENT ADVOCATES THAT HAVE NEVER WORKED TOGETHER BEFORE UP UNTIL TWO YEARS AGO, SO THERE ARE SOME CHALLENGES, SO I THINK JUST COMING TOGETHER AND MEETING PEOPLE, TALKING ABOUT SOME OF THE CHALLENGES IS AT LEAST A BIG FIRST STEP FORWARD. >> I WOULD DEFINITELY ECHO THAT. I THINK THERE'S NOT A AS MUCH OF AN APPRECIATION FOR HAVING GOOD COMMUNICATIONS AS I THINK WE NEED. THERE'S SO MUCH VALUE, I'VE TALKED TO PROBABLY MOST OF THE PEOPLE ON THIS BOARD ABOUT IF WE COULD JUST HAVE A WORKSHOP OR IF WE COULD JUST HAVE A MEETING OR IF WE COULD ALL JUST GATHER AROUND SOME EITHER COMMON DATA MODEL AND/OR SOME KIND OF COMMON PLATFORM AND/OR SOME TYPE OF COMMON -- INSERT WHATEVER IT IS THAT ALL OF US NEED, THEN WE COULD EACH LEVERAGE THAT SAME PLATFORM AND THAT COMMON DATA MODEL AND THAT COMMON MAYBE FUNDING INFRASTRUCTURE OR WHAT IT MAY BE, AND INSERT OUR RARE FLAVOR INTO THAT AND THEN EVERYBODY KIND OF WINS AT THE END. SO I THINK COMING TO THIS REALIZATION THT WE HAVE TO DO THIS COLLABORATIVELY AND I THINK EVERYBODY IS ON BOARD WITH THAT NOW. I DON'T KNOW THAT THAT WOULD HAVE BEEN THE CASE 10 YEARS AGO, BUT I THINK EVERYBODY IS AWARE OF THAT ESPECIALLY IN THE CASE OF RARE DISEASE AND RARE CANCER, THAT WE HAVE TO WORK TOGETHER COLLABORATIVELY AND REALLY KIND OF PEEL BACK THE ONION TO EVEN KIND OF FIGURE OUT WHERE ARE WE, WHERE ARE WE STARTING, WHERE ARE OUR RESOURCES AND WHEN CAN WE COME TOGETHER. I THINK STARTING WHERE IT'S EASY AND THEN GETTING TO THE THINGS THAT ARE MORE CHALLENGING IS PROBABLY ONE OF THE WAYS THAT WE CAN THINK ABOUT IT. >> IT SEEMS TO ME THAT COLLABORATION AND COALITION BUILDING HAS REALLY BEEN A THEME TODAY, AND IT'S SOMETHING WE'VE REALLY TRIED TO PUT IN PLACE IN A FORMAL WAY THROUGH THE RARE CANCER COALITION. WE'RE REALLY INTERESTED IN A WAY TO BUILD A MORE TANGIBLE GROUP AROUND RARE CANCERS, AND MANY OF THE MEMBER ORGANIZATIONS ARE HERE IN THE AUDIENCE, WHICH IS GREAT, BECAUSE WE'RE ALL REALLY FACING THE SAME CHALLENGES, WHETHER WE'RE REALLY SMALL ORGANIZATIONS OR LARGER ONES, THE CHALLENGES WE FACE ARE NOT REALLY -- THEY'RE UNIQUE TO RARE CANCERS BUT THEY'RE NOT UNIQUE AMONG US AND REALLY THEY'RE THE SAME CHALLENGES FACED BY ALL THE RARE DISEASE ORGANIZATIONS THAT ARE HERE, SO WE CERTAINLY LEARN A LOT MORE, LIKE YOU SAID, FIRST BY COMING TOGETHER TO MEETINGS LIKE THIS, BUT LEVERAGING EACH OTHER'S PROGRAMS AND -- BE WILL REALLY, REALLY ACCELERATE PROCESS IN THAT WAY. >> ONE THING, AND IT MAY JUST BE THAT I'M BECOMING AWARE OF IT VERSUS IT'S BECOMING MORE AND MORE TRUE, BUT I FEEL LIKE WE STARTED WITH THE RESEARCHERS FEELING LIKE THEY NEEDED TO WORK TOGETHER IN ORDER TO SURVIVE AND MAKE PROGRESS AND THE ADVOCACY GROUPS FEELING LIKE THEY NEEDED TO WORK TOGETHER AND MAKE PROGRESS, AND I FEEL LIKE IT'S IN THE PAST COUPLE YEARS THAT THERE'S REALLY BEEN THE APPRECIATION THAT THESE TWO POPULATIONS ARE EQUAL PARTNERS IN THE PROCESS, AND THAT THE CLINICIANS NEED TO LEARN FROM THE PATIENTS AND THE ADVOCATES AS MUCH AS THEY NEED TO HAVE THEIR OWN IDEAS AND MOVING FORWARD. SO I FEEL LIKE THAT IS REALLY SORT OF ALMOST LIKE A GROUND SWELL RIGHT NOW THAT I HOPE IS REALLY GOING TO MAKE HUGE INROADS. AND SORT OF HOW DO YOU CAPTURE THE PATIENT EXPERIENCE SO THAT THAT BECOMES PART OF WHAT YOU'RE TESTING DRUGS ON AND IMPROVING LIVES WITH. >> I WOULD LOVE TO TAKE A SECOND AND JUST EXPAND ON WHAT YOU WERE SAYING AND ALSO THE INDIVIDUAL PATIENT IN WITH THE MIX. I THINK IF YOU CAN HAVE PATIENTS AND DOCTORS AND RESEARCHERS ALL CONTRIBUTING TO THE DESIGN AFTER STUDY OR CLINICAL TRIAL TOGETHER, THAT YOU CAN GET AT WHAT A LOT OF PANEL 2 WAS TALKING ABOUT THIS MORNING IN TERMS OF GETTING THAT HIGH FIDELITY, VERY ROBUST DATA THAT IS BASICALLY PREHARMONIZED BEFORE IT'S EVEN RELEASED AND/OR TRIED -- CREATE ON TO OTHER DATASETS. I'M GOING TO USE SOME EXAMPLES, SO THE EXAMPLE WE HEARD IN PANEL 2 TODAY WAS DO YOU HAVE A VISION ISSUE, YOU KNOW, AND THE PERSON WAS LIKE, OF COURSE NOT, BUT IT WAS BECAUSE THEY WERE WEARING GLASSES. SO THE WAY WE BUILD OUR RE SECH STUDIES FOR COUNT ME IN IS, AND THERE ARE SEVERAL PEOPLE, WE HAVE A PATIENT HERE THAT'S PART OF ONE OF OUR PATIENT ADVISORY COMMITTEES AND WE HAVE SOMEBODY WHO HELPS CONVENE THESE COMMITTEES RIGHT HERE ON STAGE WITH JIM PALMA. WHAT WE TRY TO DO IS WE TRY AND WORK WITH THE RESEARCHERS AND THE ADVOCACY GROUPS AND THE PATIENTS IN THIS WAY, JUST TO GIVE THE VERY KIND OF GRANULAR EXAMPLE. WE'LL ASK LIKE A CLINICIAN OR RESEARCHER, WHAT BUCKET OF INFORMATION FROM A PATIENT DO YOU NEED? AND IT'S SOMETHING THAT YOU MAY BE ABLE TO GET FROM A MEDICAL RECORD, BUT IT WOULD BE VERY DIFFICULT OR TAKE TIME. BECAUSE PATIENTS, WE KNOW, I'M A PATIENT, I KNOW, I CAN TELL YOU WHEN I WAS DIAGNOSED, I CAN TELL YOU A LOT ABOUT MY EXPERIENCE WITH MY DISEASE, BUT I NEED TO BE ASKED THE RIGHT WAY. AND SO IF -- WE TAKE THE KIND OF BUCKETS OF INFORMATION THAT A CLINICIAN OR RESEARCH WANTS TO UNDERSTAND, THEN WE TAKE IT THROUGH THE ADVOCACY GROUPS DIRECTLY TO THE PATIENTS AND WE SAY, IF SOMEBODY WANTED TO KNOW WHERE YOUR DISEASE WAS, DOES THIS QUESTION WORDED THIS WAY MAKE SENSE? AND PATIENTS WILL OFTEN RED-MARK IT AND THEY'LL SAY, NOPE, I WOULD ANSWER IT THIS WAY, BUT IF YOU ASK IT THIS OTHER WAY, THEN I WOULD UNDERSTAND IT AND I WOULD GIVE YOU THIS ANSWER. WE DO THAT ENOUGH TIMES UNTIL WE GET -- EVERYBODY LANDS IN THE SAME PLACE, WHERE THE RESEARCHERS ARE LIKE, YEAH, THAT IS THE INFORMATION I'M LOOKING FOR AND THE PATIENTS ALL AGREE, YES, THAT'S HOW I WOULD ANSWER IT, AND THEN WE MOVE FORWARD QUESTION BY QUESTION FOR EVERY SURVEY, FOR EVERY STUDY THAT WE DO. >> SO TALKING ABOUT TRYING TO EXPAND THOSE INTERACTIONS, AND YOU'VE TALKED ABOUT SOME OF THE DIFFERENT GROUPS THAT ARE ACTIVE IN THE SPACE, AND IT BRINGS THE ISSUE OF COMPETITION VERSUS COLLABORATION TO MIND. THERE'S LIMITED RESOURCES, THERE ARE LIMITED PATIENTS, AND GETTING BACK TO THE NEED NOT JUST TO BRING PEOPLE TOGETHER BUT TO HAVE PEOPLE WORKING TOGETHER TOWARD THAT COMMON GOOD AND SHARING WHAT THEY HAVE. ANY INSIGHTS ON HOW TO BREAK THAT DOWN >> I DON'T WANT TO PUT DENISE ON THE SPOT BUT LIKE YOU SAID, ALL THE ORGANIZATIONS WORKING IN SARCOMA DIDN'T START TALKING TO EACH OTHER UNTIL A FEW YEARS AGO. CAN YOU SHARE YOUR EXPERIENCE AND HOW THAT MIGHT OVERCOME OF SOME OF THOSE ISSUES? >> ONE OF THE APPROACHES WE TOOK IS BECAUSE THERE HADN'T ALWAYS BEEN HARMONY AMONGST THE GROUPS LET ME PUT IT MILDLY, WE STARTED OUT BY SAYING, LISTEN, THERE'S STRENGTH IN WORKING TOGETHER. AND SO LET'S START WITH THE GOAL OF FINDING WHERE DO WE HAVE A COMMON VOICE? WHERE IS GROUND WE CAN WORK TOGETHER THAT'S NOT CONTENTIOUS THAT WILL LEVERAGE THE STRENGTH OF THIS RARE COLLECTIVE GROUP, RECOGNIZING THAT MANY OF THE GROUPS REPRESENT MAYBE ONE SUBTYPE OF SARCOMA, SO THEY'RE THE RARE OF THE RARE, BUT COLLECTIVELY, SARCOMA REPRESENTS A RARE GROUP OF TUMORS, SO WE BROUGHT TOGETHER -- WE KIND OF LAID OUT, WROTE IT OH OUT, SAID THIS IS IT, THESE ARE OUR GOALS, WE'RE GOING TO FIND A COMMON VOICE, WE'RE GOING TO FIND WHERE WE CAN WORK TOGETHER, WHERE WE CAN LEVERAGE OUR STRENGTH. WE'RE NOT LOOKING TO TAKE EACH OTHER OVER, STEP ON EACH OTHER'S TOES, TAKE EACH OTHER'S MONEY, WE'RE REALLY TRY TO GIVE A STRONG VOICE IN THE BROAD COMMUNITY WHERE IT CAN BE LEVERAGED TO HELP PEOPLE UNDERSTAND WHAT THE ISSUE OF SARCOMA IS, HOW WE CAN HELP PEOPLE BE MORE AWARE SO THAT THEY CAN HELP US EITHER GET PATIENTS DIAGNOSED. ONE OF THE BIGGEST THINGS THAT WE RUN INTO IN SARCOMA, AND LIKE MANY RARE DISEASES, OFTENTIMES THEY'RE NOT DIAGNOSED VERY PROMPTLY BECAUSE PEOPLE DON'T IMMEDIATELY THINK. SO OFTENTIMES I MENTD TO SAY EARLIER ON THE SARCOMAS OCCUR IN THE BONES AND CONNECTIVE TISSUES THAT HOLD THE BONES TOGETHER LIKE THE MUSCLE AND FAT, BLOOD VESSELS AND SUCH, JUST TO NAME A YOU FEW, BUT OFTENTIMES THEY MAY START AS A LUMP OR BUMP -- PEOPLE DON'T THINK CANCER RIGHT AWAY, SO DIAGNOSIS FOR SARCOMA, WHEN YOU'RE ON THE OTHER SIDE OF THE COIN AND YOU HAVEN'T BEEN DIAGNOSED IN A TIMELY WAY AND IT AFFECTS YOUR OUTCOME, SO THESE ARE THINGS THAT WE FOUND COMMON GROUND TO SAY, WOW, THIS IS SOMETHING, LET'S FIGURE OUT HOW WE CAN GET THE WORD OUT AND MAKE MORE AWARE. SO THAT'S HOW WE APPROACHED IT TO GET THE LOW HANGING FRUIT, WHERE CAN WE FIND EASY THINGS TO WORK TOGETHER ON AND GET SOME WINS. WE FILE FEEL LIKE IF WE HAVE A FEW THINGS THAT WE WIN ON, THAT THAT WILL KIND OF BREED THAT KIND OF STRENGTH AMONGST THE GROUP AND WE CAN GO FROM THERE. >> SO THERE'S CERTAINLY STRENGTH IN NUMBERS. THERE'S A FEW DIFFERENT MODELS ABOUT NUMBERS -- RARE DISEASE GROUPS, THEY HAVE A LOT OF AGGREGATE POWER, THEY HAVE THE EAR, THEY HAVE LOBBYING, THEY CAN GET THE MESSAGE OUT AND MAKE THINGS HAPPEN. THERE ARE THE CANCER-SPECIFIC ORGANIZATIONS THAT ARE NOT RARE-SPECIFIC LIKE THE AMERICAN CANCER SOCIETY AND CRUK. THEY ALSO CAN COME IN FROM A PERSPECTIVE OF THAT A RARE DISEASE GROUP MIGHT NOT HAVE BECAUSE THEY'RE NOT CANCER AND THEN FOR CANCER, THERE ARE SOMETIMES MULTIPLE, EVEN FOR THE REALLY RARE ONES, GROUPS, THAT HOPEFULLY CAN FIND EACH OTHER ON THE INTERNET. I THINK WE'RE SEEING NOW THE EVOLUTION OF RARE CANCER UMBRELLA GROUPS. IN THE U.K., THERE'S CANCER 50 WITH TWO, WHICH IS A COLLECTION OF FOLKS WITH DIFFERENT RARE CANCERS THAT ARE WORKING COLLECTIVELY FOR ISSUES THAT ARE SPECIFIC TO CANCER AND RARE CANCER AND THEY'RE VERY EFFECTIVE, SO I THINK WE'LL SEE MORE OF THAT SORT OF ORGANIZATION PUSHING THE AGENDA. >> I MIGHT JUST ADD ALSO, IT'S NOT KIND OF DIRECTLY ANSWERING, I THINK, THE QUESTION THAT YOU POSED BUT KIND OF BRANCHING OFF TO WHAT WAS JUST SAID HERE, AND I'M SURE EVERYBODY IN THE ROOM IS PROBABLY WELL AWARE OF THIS, BUT IN CASE THERE ARE OTHERS THAT ARE NOT, I THINK RARE PATIENTS, CANCER OR OTHERWISE, ARE GOING TO FIND EACH OTHER EITHER THROUGH THE ADVOCACY GROUPS OR THROUGH ONLINE SOCIAL MEDIA OR OTHER WAYS, YOU ALWAYS LOOK FOR PEOPLE WHO WALK THROUGH YOUR SHOES, AND NOW WE HAVE A VEHICLE THAT ENABLES US TO DO THAT. WE OFTEN, AS PATIENTS, WILL DISCUSS OUR EXPERIENCES WITH THE DISEASE IN THOSE GROUPS. WE'LL DISCUSS CLINICAL TRIALS BEFORE THEY'RE OVER, WE'LL DISCUSS INITIATIVES THAT ARE UP AND COMING, WE'LL DISCUSS THE EMOTIONAL TURMOIL THAT WE'RE IN AND EVERYTHING UNDER THE SUN AS IT RELATES TO OUR DISEASE. IT'S A PLACE WHERE I FEEL WE CAN'T IGNORE AND FOLD INTO THE MIX AS WE THINK ABOUT HOW WE'RE GOING TO COLLABORATE AND HOW WE'RE GOING TO BRING EVERYBODY TOGETHER. >> THAT'S GREAT. SO SWITCHING GEARS, WE TALKED ABOUT FOUNDATION AND HOW PEOPLE PLAY SUCH A BIG PART IN THE ROLE OF RARE CANCER RESEARCH. A RESOURCE TOWARDS SOME OF THESE EFFORTS, LET ME ASK YOUR THOUGHTS ON THAT. >> OBVIOUSLY THERE'S AN INCREDIBLY IMPORTANT ROLE FOR INDUSTRY TO PLAY AND I THINK FOR A LOT OF FOUNDATIONS THAT ARE PROBABLY HERE, THERE SOMETIMES FEELS LIKE THERE COULD BE A VERY BIG GAP BETWEEN WHAT YOU COULD DO AS A FOUNDATION AND WHAT A PHARMA COMPANY IS DOING TO DEVELOP A DRUG. IT SOMETIMES SEEMS THERE'S A VERY BIG SORT OF DISTANCE THAT YOU WOULD HAVE TO TRAVEL OR YOU WOULD HAVE TO GROW VERY FAR AS AN ORGANIZATION TO REALLY BE ABLE TO IMPACT THAT OR CHANGE IT, AND I THINK WHAT I REALLY FOUND AS SOME OF THE RARE CANCERS I'VE FOCUSED ON SPECIFICALLY HAVE GOTTEN MORE ATTENTION FROM DRUG DEVELOPMENT COMPANIES IS THAT THAT'S REALLY NOT THE CASE. THERE'S SO MANY WAYS THAT EVEN THE SMALLEST FOUNDATION CAN REALLY BE DOING A LOT OF WORK TO HELP INFLUENCE WHAT A DRUG COMPANY WILL ULTIMATELY DO, SO FOR EXAMPLE, IN ITS SIMPLEST FORM, IT'S JUST MEETING PEOPLE, JUST COMING TO CONFERENCES HIKE THIS OR OTHER ONES, MEETING COMPANIES, TALKING TO THEM, INTRODUCING YOURSELF AND MAKING SURE THAT THEY KNOW THAT YOU'RE THERE AND THAT THERE'S PEOPLE OUT THERE WHO CARE ABOUT A DISEASE THAT THEY MIGHT CHOOSE TO FOCUS ON. IN ADDITION TO BE A CONNECTOR TO PATIENTS IS INCREDIBLY VABL EUBL VALUABLE, TO TELL THEM WHAT THE EXPERIENCE IS REALLY LIKE, IT'S ABSOLUTELY VALUABLE, BUT FROM A RESEARCH PERSPECTIVE, THE PART THAT I'M MOST INTERESTED IN IS A LITTLE BIT OF WHAT I WAS TALKING ABOUT BEFORE OF WHAT A SMALL FOUNDATION CAN DO WITH THEIR RESEARCH FUNDING TO ULTIMATELY INFLUENCE DRUG DEVELOPMENT. I HAD AN INTERESTING MEETING I THINK IT WAS LAST WEEK WITH A COMPANY AND THE PERSON IS DEVELOPING A DRUG THAT MAY GO INTO ANY NUMBER OF SOLID TIE TUMORS. THE MESSAGE THAT HE GAVE ME WAS THAT DATA DRIVES DECISION-MAKING IN BIOTECH. IT'S A GREAT QUOTE TO KEEP IN MIND. IF WE CAN PLAY A ROLE IN FUNDING RESEARCH THAT LOWERS THE BARRIER FOR THEM TO GET INVOLVED, THAT GIVES THEM DATA AND TOOLS BY WHICH THEY CAN TEST A DRUG OR HYPOTHESIS, THERE'S A REALLY GOOD CHANCE THEY'LL START TO INVEST IN DEVELOPING THAT DRUG. SO WHETHER IT'S FUNDING THE DEVELOP. CELL LINES OR BEING A PART OF ONE OF THE COUNT ME IN STUDIES WHERE YOU'RE ENCOURAGING YOUR PATIENT COMMUNITY TO HELP GENERATE GENOMIC DATA, THIS ALL HAS A REALLY SIGNIFICANT INFLUENCE IN THE DRUGS THAT WILL EFFICIENTLY BE PRODUCED FOR EVENT EVENTUALLY BE PRODUCED FOR RARE CANCER. >> WHAT WE'RE SEEING IN THE LAST 17 YEARS, I THINK WHEN BREAST CANCER WAS DEFINED AS LIKE A LARGE BUCKET, PHARMA WOULD LOOK FOR INDICATION IN A LARGE PATIENT POPULATION, THERE'S AN ADVANTAGE WE NOW HAVE IN RARE DISEASES AS CANCERS ARE BEING DEFINED MORE SPECIFICALLY BASED ON MOLECULAR CHARACTERIZATION, THEY BECOME SMALLER GROUPS AND SMALLER POPULATIONS SO IT IS AN OPPORTUNITY NOW FOR US AND WE CAN HELP IN PARTNERING. THEY'RE DOING A LOT OF THE DRUG DEVELOPMENT AND HAVING GOOD PARTNERSHIPS WITH THOSE WHO ARE DEVELOPING DRUGS AND ACTUALLY DOING ALL THE INITIAL WORK PARTNERING WITH THEM TO SHOW THEM WHETHER IT'S GIVING THEM PRE-CLINICAL, HELPING TO UNDERSTAND HOW THEIR DRUGS ARE WORKING, UNDERSTAND BETTER BIOLOGY ASSOCIATED WITH THE DISEASES, OFTENTIMES THEY'RE FEARFUL THAT RARE DISEASES ARE GOING TO BE HARD TO A CREW, THEY'RE NOT GOING TO TO GET DONE, SO THESE STRONG NETWORKS OF RESEARCHERS, PATIENTS, WORKING TOGETHER LOWER THOSE BARRIERS AND WE'RE SEEING MANY MORE OPPORTUNITIES AND PEOPLE BEING MORE INTERESTED IN LOOKING AT RARE DISEASES WITHIN THE LAST FIVE YEARS THEN I CAN SAY LIKE 15 YEARS AGO, IT WAS MUCH HARDER TO BE WORKING, SO NOW IS REALLY A GOOD TIME AND WE SHOULD REALLY TRY TO CAPITALIZE ON IT. >> I'D LIKE TO ECHO BOTH OF WHAT YOU BOTH SAID HERE, BOTH THAT DATA, IF YOU CAN GENERATE DATA, AND YOU CAN BASICALLY POSITION A RARE DISEASE OR RARE CANCER COMMUNITY TO BE KIND OF ALREADY IN THE PIPELINE OF WHAT A PHARMACEUTICAL COMPANY IS DEVELOPING, I THINK YOU HAVE A MUCH GREATER CHANCE AT CAPTURING THEIR ATTENTION THAN YOU WOULD IF YOU JUST EITHER HAD A NON-UNIFORM WAY ABOUT GOING ABOUT TRYING TO GATHER THEIR ATTENTION. I THINK THAT IF YOU -- I THINK THE DIRECTOR EARLIER TODAY WAS TALKING ABOUT THE REPURPOSING OF A DRUG FOR PROGERIA. I THINK IN THE SPACE OF RARE DISEASE AND RARE CANCER, THAT'S SOMETHING WE SHOULD BE CAPITALIZING ON. THERE ARE ANY NUMBER OF DRUGS THAT ARE ALREADY MADE FOR OTHER INDICATIONS AND THEY HIT DIFFERENT PATHWAYS AND WE DON'T KNOW. AS SCIENTISTS, WE DON'T KNOW IF THOSE ARE AT PLAY IN RARE CANCERS OR RARE DISEASES. BUT IF WE CAN SUPPLEMENT THE BIOMEDICAL COMMUNITY WITH ENOUGH DATA THAT THEY CAN LITERALLY JUST GO IN, ALMOST LIKE A MAP AND MATCH A PATHWAY WITH A KNOWN DRUG, YOU CAN GET THE RATIONALE TO THEN LOBBY WHOEVER IS THE SPONSOR OF THAT DRUG TO MAYBE OPEN UP A WING FOR PEOPLE THAT HAVE RARE CANCERS AND RARE DISEASES. >> YEAH, WE HAD THAT EXPERIENCE IN ONE OF OUR PILOT STUDIES FOR THE RARE TUMOR INITIATIVE. THERE WAS A TRIAL THAT WAS LOOKING AT SOLID TUMORS, AND MOST PATIENTS WERE NOT RESPONDING TO THE DRUG, BUT THERE WAS A DESMOID TUMOR THAT DID RESPOND. SO THE PEOPLE IN THE INTRAMURAL PROGRAM WANTED TO SORT OF FOLLOW UP ON THIS HYPOTHESIS, THEY DID NOT HAVE ANY EXPERIENCE WITH DESMOID TUMORS AND IT WAS ACTUALLY ABBY WHO WENT TO THE DESMOID TUMOR RESEARCH FOUNDATION AND SAID CAN YOU HELP US MAKE THIS POSSIBLE, AND THE ACCRUAL RATE ON THAT TRIAL WAS PHENOMENAL, AND IT REALLY WAS BECAUSE OF THE PARTNERSHIP WITH THE ADVOCACY AND I THINK THAT'S WHAT'S SOLD US COMPLETELY, WE ALWAYS NEED PARTNERS IN ADVOCACY TO GO FORWARD WITH THESE THINGS, BECAUSE IT WAS -- IT REALLY -- IT WAS A VERY SUCCESSFUL TRIAL AND IT'S MOVING FORWARD, AND YOU KNOW, IT PROBABLY IS THE KIND OF THING THAT IF WE HADN'T DONE THAT SORT OF SPECIALIZED TRIAL, THE DRUG MIGHT HAVE BEEN DROPPED BECAUSE IF YOU LOOK OVER THE BROAD NUMBER OF PATIENTS, IT WAS NOT A SUCCESS, BUT FOR THIS PARTICULAR KIND OF TUMOR, IT WAS. >> I THINK THE DRUG COMPANIES ARE CHANGING THE WAY THEY'RE APPROACHING RARE DISEASES. IT'S A HARD SELL TO DO A TRIAL FOR 10 OR 20 PATIENTS FOR ONE INDICATION. THEY'RE MUCH MORE LIKELY TO BE AMENABLE TO A LARGE PANEL WHERE AT AN EARLY STAGE IN THEIR DEVELOPMENT, THEY CAN GET A SIGNAL FROM A NUMBER OF DIFFERENT DISEASES, POTENTIALLY, YOU NO HE, KNOW, DO SOME MARKETING PLANNING OF WHERE THEY MAY GO IN LATER PHASE TESTING. EVEN IF THEY CAN DEMONSTRATE IN MULTIPLE DIFFERENT CANCERS THAT THERE'S A COMMON PATHWAY THAT'S BEING HIT, THAT COULD LEAD TO INDICATIONS AT THIS POINT. SO THEY'RE MUCH MORE AA MENNABLE TO THAT SORT OF STUDY. THEY'RE ALSO, IN RARE CANCERS, MORE WILLING IT TO WORK WITH EACH OTHER, SO ACROSS DRUG COMPANY LINES, A COMPANY MIGHT HAVE SOMETHING THAT HITS ONE PATHWAY AND ANOTHER COMPANY THAT MAY HAVE A TARGET -- A DRUG THAT HITS A TARGET THAT IS THE ESCAPE AROUND THAT OTHER PATHWAY, AND THEY NORMALLY WOULDN'T TALK TO EACH OTHER BUM FOR RARE CANCERS, BUT FOR R ARE CANCERS, THEY'RE WILLING TO DO THAT. >> ONE LAST QUESTION BEFORE WE OPEN IT UP TO THE AUDIENCE FOR QUESTIONS, ESPECIALLY BECAUSE THIS CAME UP THIS MORNING, IT'S NOT SPECIFIC TO RARE CANCERS BUT SOMETHING ALL OF US WHO WORK IN ANY KIND OF RARE DISEASE SPACE HAVE TO DEAL WITH, AND THAT'S HOW HARD IT IS TO ACCRUE PATIENTS TO CLINICAL TRIALS JUST BASED ON NUMBERS, AND THERE WERE COMMENTS MADE THIS MORNING ABOUT PEOPLE NEEDING TO UNDERSTAND WHAT IT MEANT TO PARTICIPATE IN A CLINICAL TRIAL, SO I WANTED TO GET YOUR THOUGHTS ON WAYS THAT WE COULD MAYBE BREAK COUNCIL SOME OF THOSE DOWN SOME OF THOSE MYTHS THAT MAY BE OH OUT THERE ABOUT WHAT IT MEANS TO PARTS NATE A CLINICAL PARTICIPATE INTO A CLINICAL TRIAL AS MUCH AS THEY CAN TO HELP MOVE PATIENTS' THERAPIES FORWARD. >> THERE'S SO MANY COMMENTS THAT I WANT TO MAKE BUT I'LL TRY TO LIMIT THEM, I PROMISE, AND HAVE TIME FOR THE REST OF THE PANEL. FIRST, I THINK THERE REALLY AREN'T THAT MANY CLINICAL TRIALS AVAILABLE, LIKE FOR EXAMPLE, FOR ME, FOR ANGIOSARCOMA, IF MY CANCER COMES BACK, I THINK I HAVE ONE OR WOULD TRIALS, WHICH IS AMAZING THAT WE EVEN HAVE THAT, FOR THE LONGEST TIME WE DIDN'T EVEN HAVE THAT. AND A LOT OF THEM ARE PHASE 1 AND THEY'RE NOT DELIVERED AS A VIABLE OPTION WHEN YOU'RE SITTING WITH YOUR ONCOLOGIST. IT'S USUALLY THE LAST OPTION OR NOT TALKED ABOUT AT ALL. SO IT'S NOT PART OF OUR CULTURE, IT'S NOT PART OF THE CULTURE OF MY VERY -- I MEAN, ANGIOSARCOMA IS A SARCOMA, BLOOD VESSEL, 300 PEOPLE A YEAR. WE BASICALLY CONVENE IN ONE ONLINE FACEBOOK GROUP AND THAT'S IT. THE MOTION AND TALK ABOUT CLINICAL TRIALS ONLY COMES UP WHEN SOMEBODY'S EITHER ON IT AND WANTS TO KNOW WHAT THE SIDE EFFECTS ARE FROM OTHER PEOPLE OR REALLY THAT'S IT. THERE'S NOT LIKE A ROBUST DISCUSSION. SO I THINK TWO PLACES WHERE WE NEED TO KIND OF PUT PRESSURE TO CHANGE THAT IS ONE FROM THE ONCOLOGIST TO THE PATIENT, MAKING IT, DEMYSTIFYING IT, AND TWO, IS IN THIS SPACE OF ADVOCACY AND/OR PATIENT GROUPS WHERE WE TALK ABOUT IT AND TRY INTENTIONALLY TO MAKE IT PART OF THE DIALOGUE. >> I COMPLETELY AGREE, AND I THINK AS ADD ADVOCATES, WE HAVE AN IMPORTANT ROLE AND REALLY RESPONSIBILITY TO THE PATIENTS THAT WE SERVE AND THAT WE WORK WITH TO COMMUNICATE THIS. I THINK CHOLANGIOCARCINOMA IS A GREAT EXAMPLE OF A TYPE OF RARE CANCER WHERE CLINICAL TRIALS ABSOLUTELY HAVE TO BE PART OF THE CONVERSATION. THE STANDARD OF CARE IN CHOLANGIOCARCINOMA HASN'T CHANGED IN 10 YEARS, CERTAINLY SINCE MY BROTHER-IN-LAW RECEIVED IT. IT'S THE SAME ONE THAT'S THERE NOW AND IT'S MINIMALLY EFFECTIVE, BUT SIMULTANEOUSLY, THERE ARE NOW TWO PARTICULAR TARGETS IN THAT DISEASE FOR WHICH THERE ARE MULTIPLE CLINICAL TRIALS THAT PATIENTS -- MANY PATIENTS ARE DOING QUITE WELL ON. SO REALLY THE EARLIEST PARTS OF A CONVERSATION AFTER A PATIENT IS DIAGNOSED HAS TO INCLUDE CLINICAL TRIALS AND I THINK ONE OF THE PARTS THAT CAN BE DIFFICULT, EVEN MORE SO, I THINK WE ALWAYS THINK ABOUT THE EXPERIMENTATION PART AND GETTING PAST THAT SORT OF STIGMA AROUND WHAT THEM. IT IS A STUDY BUT REALLY, IT'S A GREAT CHANCE AT A SUCCESSFUL TREATMENT AND ONE THAT MAY BE SUPERIOR TO WHAT IS THE ESTABLISHED STANDARD OF CARE. SO I THINK JUST COMMUNICATING THAT MESSAGE AND REALLY HELPING PEOPLE TO UNDERSTAND THE ROLE OF A CLINICAL TRIAL IN A RARE CANCER TREATMENT IS INCREDIBLY IMPORTANT FOR US TO ALL BE DOING AS WE WORK WITH PATIENTS. >> I'M SO SORRY, BUT ONE OTHER THING, THERE'S A LEGITIMATE BARRIER TO PARTICIPATION IN CLINICAL TRIALS WHEN YOU HAVE A VERY EXCEEDINGLY RARE CANCER POPULATION, AND IT'S A GEOGRAPHIC DISTRIBUTION. I MEAN, YOU JUST -- IF YOU LIVE IN LAKE TAHOE AND THE ONLY PLACE THAT HAS A CLINICAL TRIAL WILL IS IN NEW YORK CITY AND MANHATTAN, GETTING THERE, LEAVING YOUR FAMILY, AFFORDING IT, FOR MAYBE SOME BENEFIT THAT IS UNPROVEN BECAUSE IT'S A PHASE ONE, IT'S A TOUGH SELL. SO I WOULD LOVE TO SEE THERE BE A DISTRIBUTION OF CLINICAL TRIALS THAT WENT TO THE PATIENT AND/OR SOMEWHERE CLOSER TO THE PATIENT FOR THE SPACE OF ALL RARE DISEASE AND RARE CANCERS. I THINK THAT WOULD FLOOD -- WE WOULD HAVE OUR TRIALS AND WE WOULD BE ABLE TO ACCRUE MUCH BETTER. >> YEAH, SO I THINK THESE ARE THE THINGS THAT WE'RE TRYING TO ADDRESS, I THINK A LOT OF US ARE ARE, FIRST OF ALL IS HAVING SORT OF MULTISITE NETWORKS SET UP TO DO THIS. I THINK ONE OF THE THINGS WE'RE SORT OF HOPEFUL FOR IS THAT WE CAN GET PATIENTS INTO THE NATURAL HISTORY STUDY WHERE THEY MAY NOT EVEN HAVE TO LEAVE HOME, PROVIDE INFORMATION FOR US, BUT THEN WE CAN ACTUALLY RECOMMEND TO THEM BECAUSE THEY'RE SORT OF UNDER THE DOCTOR'S CARE OF, OKAY, YOU MIGHT REALLY BENEFIT FROM THIS PARTICULAR TRIAL, SO IT BECOMES SORT OF A BLEND OF A NATURAL HISTORY TRIAL AND A REGISTRY TO BE NOTIFIED OF FUTURE TRIALS. SO WE'RE HOPING THAT THAT WILL HELP, BUT WE'LL HAVE TO SEE -- >> IT'S THE RIGHT DIRECTION. >> BUT YEAH, THIS IS A SERIOUS PROBLEM, WHEN YOU'RE IN THE MIDDLE OF IT AND YOU'RE JUST TRYING TO GET DAY TO DAY. SO ONE THING I WILL POINT OUT IS THAT FOR THE NIH CLINICAL CENTER, WE CAN TRAVEL PATIENTS HERE AT NO COST TO THE PATIENT. SO IT DOESN'T HELP WITH THE FACT THAT YOU'RE MISSING WORK AND YOU'VE GOT A FAMILY AT HOME, BUT IT CAN LOWER THAT BARRIER. THAT'S ONE OF THE THINGS THAT WE'RE TRYING TO PROVIDE HERE, IS A NETWORK WHERE WE'LL HAVE PLACES AROUND THE COUNTRY THAT MIGHT BE CLOSE, BUT IF YOU CAN'T MAKE THAT HAPPEN, THEN YOU COULD COME TO US. >> I THINK THE EDUCATION OF PATIENTS TO GO BACK TO THAT IS GOING TO BE KEY AND IMPORTANT. JUST THE POPULATION IN GENERAL ABOUT CLINICAL RESEARCH, IN ADDITION TO RUNNING -- I'M A NURSE PRACTITIONER IN A SARCOMA PROGRAM AND I STILL SEE PATIENTS ONE DAY A WEEK, AND I'M ALWAYS STRUCK HOW THERE'S SO MUCH MISUNDERSTANDING ABOUT WHAT CLINICAL RESEARCH IS ABOUT, AND THEN NOW PUTTING MY SARC HAT ON AND WORKING WITH THE PATIENT ADVOCACY GROUPS. ONE OF THE THINGS WE'RE GOING TO BE DOING EITHER THIS SPRIRNG YET AND IF WE CAN'T GET IT DONE THIS SPRING, THIS FALL, IS DO TRAINING FOR THE PATIENT ADVOCATES TO BECOME RESEARCH ADVOCATES, AND REALLY MODELING IT AFTER THE PROGRAM THAT THE NCI HAS OF A RESEARCH ADVOCACY COUNCIL, BUT MAKE A SARCOMA-SPECIFIC RESEARCH AND ADVOCACY COUNCIL WHERE WE'LL DO A DAY TRAINING ABOUT WHAT OUR CLINICAL TRIALS ARE ABOUT AND ENGAGE THEM AT THE TABLE OF THE PLANNING OF CLINICAL RESEARCH AND THEN THEY CAN HELP TO COMMUNICATE TO THE OTHER PATIENT ADVOCATES ABOUT WHAT'S OUT THERE AS WELL AS WHEN THE STUDIES ARE DONE, WHAT ARE THE RESULTS, BECAUSE I THINK WE DON'T DO A VERY GOOD JOB OF HERE'S SO MANY PEOPLE WHO PARTICIPATE IN THESE STUDIES AND IF DON'T GO OH PUBMED TO READ ABOUT IT, I KNOW WE'RE TRYING TO KEEP CLINICALTRIALS.GOV UP, PEOPLE ARE LIKE, I DON'T UNDERSTAND THAT WHEN I READ IT. SO ENGAGING THE COMMUNITY, AND I REALIZE IT'S NOT GOING TO HAPPEN OVERNIGHT BUT THAT'S A VISION THAT WE HAVE FOR HELPING TO USE THE STRENGTH OF THE PATIENT ADVOCACY COMMUNITY TO BE ABLE TO HELP US EDUCATE PEOPLE ABOUT THE IMPORTANCE OF CLINICAL RESEARCH AND MAKING PROGRESS. >> SO TWO THINGS, ONE IS ONE OF OUR COMMITMENTS IS WE ARE FORMING A PATIENT PORTAL FOR OUR STUDY SO THAT THE PATIENT CAN BOTH GIVE US DATA BUT THEN WE CAN ACTUALLY GIVE BACK VERY SPECIFIC RESULTS ON OUR STUDIES THAT ARE RELATED TO THE PATIENT'S INDIVIDUAL EXPERIENCE. BUT I JUST WANTED TO BRING UP A COMMENT THAT A PATIENT GAVE AT A MEETING FOR MERKEL CELL CARCINOMA, AND I DON'T KNOW IF HE INVENTED THE PHRASE OR IF HE'S STEALING IT FROM SOMEBODY ELSE, BUT HE SAID EVERYONE TOLD ME I SHOULDN'T BE A GUINEA PIG, AND I SAID I'M NOT A GUINEA PIG, I'M A TEST PILOT. IF WE CAN GET THAT MESSAGE OUT THERE, I THINK THAT'S REALLY WHERE WE NEED PATIENTS TO FEEL LIKE THEY ARE ON THE CUTTING EDGE OF MAKING A DIFFERENCE, AND THAT WE CAN'T DO IT WITHOUT THEM. >> ABSOLUTELY. >> SO IN TERMS OF FINDING A TRIAL, I THINK MOST PATIENTS WILL IMMEDIATELY GO TO THE INTERNET AND ONE OF THE FIRST THINGS THEY'LL HIT IS CLINICALTRIALS.GOV OR PDQ, OR THEY MAY FIND AN ADVOCACY GROUP, SO I THINK IT BEHOOVES THE ADVOCACY GROUPS TO DO SOMETHING USEFUL WHEN PEOPLE CONTACT THEM. IT'S REALLY HARD TO GO THROUGH CLINICALTRIALS.GOV AND FIGURE OUT, ARE YOU ELIGIBLE OR NOT FOR A TRIAL SO TO HAVE SOMEONE CURATE THAT EXPERIENCE AND PROVIDE SOME GUIDANCE, MAYBE NOT ON A FULL MEDICAL LEVEL BUT JUST TO HELP YOU UNDERSTAND THE TERMS IS SUPER HELPFUL. AND IF IT'S WITHIN A RESTRICTED DOMAIN, THAT SHOULD BE POSSIBLE. I THINK THE OTHER PLACE WE NEED TO LOOK IS MEDICAL TRAINING AND FORMATION. SO I CAME FROM A PEDIATRIC ONCOLOGY BACKGROUND. FOR US NOT TO PUT A PATIENT ON TRIAL IS THE FAR EXCEPTION. 90 SOMETHING PERCENT GO ON TRIAL. PATIENTS GO TO A TERTIARY CENTER, THEY SEE PEOPLE WHO ARE DOING TRIALS FOR EVERY DISEASE THAT PRESENTS. IT'S JUST WHAT YOU DO. THAT KL TOUR ISN'T THERE FOR CULTURE ISN'T THERE FOR ADULTS. IN THE COMMON -- EVERY ONE OF THEM SAYS PLEASE CONSIDER A CLINICAL TRIAL AS THE APPROPRIATE TREATMENT. YOU'LL NEVER GET LESS THAN STANDARD OF CARE ON A CLINICAL TRIAL. BUT THAT HASN'T MEN PENN TRAITED. SO I THINK THAT NEEDS TO BE INCULCATED AT THE RESIDENCY AND FELLOWSHIP AND SO ON LEVEL AND IT NEEDS TO BE BAKED INTO PROCESSES SO THAT AS YOU GO THROUGH YOUR CLINICAL DAY, THAT IS PROMPTED ALMOST TO OFFER A TRIAL, AND TO KNOW WHAT TRIALS ARE AVAILABLE AT ANY GIVEN TIME. >> THANK YOU. I'M GOING TO STOP THAT HERE. I WANT TO MAKE SURE WE HAVE A CHANCE FOR PEOPLE IN THE AUDIENCE TO ASK QUESTIONS. REMIND YOU THERE ARE MICROPHONES SET IN THE AUDITORIUM, THERE ARE ALSO A COUPLE IN THE UPPER LEVEL FOR THOSE SEATED UP THERE. MILLER CANCER FOUNDATION. LESS THAN 500 PEOPLE DIAGNOSED A YEAR, AND OBVIOUSLY WE HAVE THE CHALLENGES OF FINDING RESEARCH AND COMMUNITIES AND SO ON. FIRST THE COMMENT, THANKS TO ALL OF YOU FOR RECOGNIZING RARE CANCERS. I CAN PERSONALLY SAY I HAD A WONDERFUL MEETING WITH ABBY AND KARLYNE THIS MORNING TO TALK ABOUT REALLY THE DEDICATION OF THE NIH AND THE NCI, WHICH IS WONDERFUL. AIDE A COMRE NES OUNG INVESTIGATORS, AND THE PASSIONEHOOTAR CAERS. IE, YOU SHARE ALL THE THINGS T QSTIONSNG TGOBASES, Y AUALL SO FIRST OF ALLTHANK YOU A WD MOR E O TH OFTEN FL ENDRE N OBVIOUSLY WITH LEADERS LIKEOU. SO JIM THEUESTION TO YOU IS, YOU'RE PRETTY MUCH A FAIRLY RECOGNIZED PERSON IN RARE CANCER. SO YOU JUST LAUNCHED THIS RARE CANCER COALITION WITH NORD. WHY, AND WHAT'S IT'S GOAL AND HOW CAN OTHER PEOPLE GET INVOSMED? >> SO THE RARE CANCER COALITION AT NORD IS REALLY AN ATTEMPT TO BRING TOGETHER DIFFERENT RARE CANCER ADVOCACY GROUPS AROUND THIS COMMON SET OF CHALLENGES THAT WE ALL FACE BUT ALSO TO LEVERAGE THE INCREDIBLE RESOURCES THAT NORD OFFERS TO ALL THESE FOUNDATIONS. SO WHILE NORT HAS HISTORICALLY DONE SO MUCH GREAT WORK IN THE DISEASE COMMUNITY, REALLY IT WAS A MATTER OF BRINGING SOME PEOPLE TOGETHER TO BRING THAT FOCUS UP AND WE'VE GOTTEN SO MUCH SUPPORT FROM THEM ON THAT. SO I WILL BE HAPPY TO USE THIS AS A PLUG TO ANY CANCER FOCUSED ORGANIZATIONS TO CONTACT ME OR JOHN OR LIKE I SAID, THERE'S A LOT OF OTHER MEMBER ORGANIZATIONS HERE TO TALK ABOUT WHAT WE'RE TRYING TO DO AND HOW WE'RE PUTTING OUR RESOURCES TOGETHER TO REALLY BUILD A UNIFIED SORT OF FORCE IN RARE CANCERS. >> I'M BLANCHE ALTER FROM THE NATIONAL CANCER INSTITUTE FROM THE EPIDEMIOLOGY SIDE. BUT I HAVE A COMMENT AND THEN A COUPLE OF QUESTIONS. THE QUESTIONS ARE THINGS YOU HAVE TO THINK ABOUT AND NOT ANSWER RIGHT AWAY. THE COMMENT IS THAT WHEN YOU'RE TALKING ABOUT RARE CANCERS, MY INTERPRETATION IS A COMMON CANCER IN A RARE OCCURRENCE. IN OTHER WORDS, SOME OF THE CHILDREN THAT YOU'RE TALKING ABOUT MAY HAVE NOT AN UNCOMMON CANCER, BUT IT'S UNCOMMON AT THEIR AGE, AND I THINK THAT WE NEED TO SORT OF RE-SPIN IT, IF YOU WILL. MY QUESTION HAS TO DO WITH TWO THINGS, SINCE I DO STUDY PATIENTS, I DO NATURAL HISTORY STUDY, AND WE FOLLOW PATIENTS. HOW DO YOU KEEP THE YOUNG A ADULT ENGAGED? AS A PEDIATRICIAN, THAT'S GREAT, PARENTS BRING THE KID, THAT'S FINE. THEY GET TO BE 18, WE DON'T SEE THEM UNTIL THEY'RE 30, THEY'RE GETTING MARRIED, THEY WANT TO HAVE CHILDREN AND SUDDENLY THEY'RE REMINDED THEY HAVE THIS DISORDER THAT IS GENETIC THAT THEY'VE HAD FROM THE BEGINNING BUT THEY JUST DIDN'T PARTICIPATE AND DIDN'T AVAIL THEMSELVES OF PERHAPS SCREENING OPPORTUNITIES TO FIND THE CANCERS THAT WERE OCCURRING AT A YOUNGER AGE. THE SECOND CONCERN, AND AGAIN, JUST THINK ABOUT THESE, IS HOW DO YOU GET -- THE TERM WAS USE EUSED ABOUT PHASE 1, PHASE 2 AND PHASE 3 TRIALS, YOU'RE NOT A GUINEA PIG, YOU'RE A TEST PILOT. HOW DO YOU ENCOURAGE SOMEBODY TO PARTICIPATE IN A PHASE 1 STUDY WHERE THEY MAY GET NO BENEFIT AND THEY MAY GET SOME ADVERSE EVENTS, WHICH IS WHY YOU'RE DOING THAT STUDY, AND THEN AT THE PHASE 2, IT'S GREAT, THEY KNOW YOU'VE GOT A DOSE AND IT MIGHT WORK. BUT PHASE 3, THEY MAY GET RANDOMIZED TO PLACEBO. HOW DO YOU GET THEM TO PARTICIPATE? SO THOSE ARE MY ISSUES. I DON'T KNOW WHO TO DIRECT THOSE TO, IF ANYBODY WANTS TO CHALLENGE THEM OR NOT. >> I HAVE A QUICK COMMENT ABOUT THE ADOLESCENT/YOUNG ADULT GROUP. IN OUR SARCOMA PROGRAM AT UNIVERSITY OF MICHIGAN WHERE I WORK, OF WE'VE BEEN FOCUSING ON SARCOMA SURVIVORSHIP AND REALLY LOOKING AT THE TRANSITION FROM PEDIATRIC TO MEDICAL CARE, AND THAT IS A CHALLENGING TIME FRAME, AND I DON'T KNOW THAT I HAVE AN ANSWER FOR IT, BUT I KNOW THAT WE ARE LOOKING AT IT, RECOGNIZING THAT IF YOU'VE HAD CANCER ESPECIALLY AT A YOUNGER AGE, YOU'VE GOT ALL SORTS OF POTENTIAL FOR COMORBIDITIES, OTHER HEALTH PROBLEMS THAT ARE GOING TO OCCUR IN YOUR LIFE NOW THAT YOU'VE SURVIVED THE CANCER AT A YOUNG AGE AND THAT IS A BIG PROBLEM THAT WE NEED TO CONTINUE TO TRY TO ADDRESS WITH YOUNG PEOPLE. THAT'S NOT AN EASY TRANSITION TO MAKE. >> I'LL JUST SAY THAT WE'RE ALSO VERY SENSITIVE TO THAT ISSUE AND SO WE DO HAVE PEOPLE THAT ARE SPECIFICALLY FOCUSING ON AYA, ADOLESCENTS AND YOUNG ADULTS, SO THE HOPE IS THAT SORT OF ENGAGING THEM AND STUDYING THEM, WE FIGURE OUT THINGS THAT MIGHT HELP MORE BROADLY KEEPING THEM ENGAGED. >> ALICE TELLS ME WE HAVE ONE TIME FOR ONE LAST QUICK QUESTION. >> WHEN WE'RE TALKING ABOUT THE CLINICAL TRIALS, AND GETTING PATIENTS INTO THEM, ONE OF THE THINGS THAT I THINK HAS BEEN NOT THE CONSIDERED ENOUGH AND THAT IS THE CARETAKER. CERTAINLY THE PATIENT GROUPS GOT TO BE A PART OF THAT. AND MAKE SURE THAT THEY CAN TAKE OH OFF WORK AND BE THE ONES WHO MAKE SURE THE MEDS GET DONE TO WHATEVER THEY HAVE TO BE DONE, AND THAT KIND OF THING. THEN I THINK WE NEED TO TAKE A LOOK AT WHAT IT MEANS TO FAIL. LET ME JUST GIVE YOU AN EXAMPLE. THEY GIVE THE MCARTHUR AWARDS AND I LOVE TO READ THOSE. ONE OF THE WOMEN WHO GOT THE AWARD SAID, YOU NO HE, I'M JUST SO GRATEFUL FOR THIS BECAUSE NOW IT WILL BE OKAY IF I FAIL. AND I THINK WHAT WE HAVE TO -- AND WE TALK ABOUT BEING A TEST PILOT VERSUS A LAB RAT, AND I LIKE THAT A LOT, BUT WE'VE GOT -- I'M ACTUALLY ADVOCATING A JOURNAL OF FAILED EXPERIMENTS, BECAUSE THERE'S A LOT OUT THERE, AND PEOPLE DON'T WANT TO FAIL. BUT WE DO, BUT WE LEARN. AND THAT'S PART OF THE SELL, IN MY BOOK. YES, BECAUSE NOW WE KNOW THIS DOESN'T WORK. SO THAT'S MY 2 CENTS. >> HI. I'M DIANA CAMPBELL, I HAVE LIE OWE MYOSARCOMA OF THE PELVIC BONE. I'M SO GLAD YOU'RE HERE BECAUSE YOU'RE TALKING ABOUT SARCOMA FINALLY. ON CLINICAL TRIALS, WHERE WOULD I BE -- I WAS DIAGNOSED IN 2004. I HAVE FIVE, SIX YEARS OF CHEMO RADIATION, STAGE IV. WHAT WOULD I DO IN TESTING NOW, BECAUSE I HAVE A LOT OF THINGS GOING ON AS FAR AS ILLNESSES, WHAT WITH MY BODY, ALL OVER, DIFFERENT THINGS. WHAT KIND OF TESTING SHOULD I BE DOING? >> WELL, IF I HEAR YOU CORRECTLY, YOU'RE TALKING ABOUT NOW THAT YOU'VE GOTTEN, YOU KNOW, BEYOND THE TREATMENT AND NOW DEALING WITH THE SEQUELAE OF HAVING BEEN TREATED, AND I THINK THAT THAT'S THE KIND OF TYPE OF ISSUES AND QUESTIONS THAT SARCOMA SURVIVORSHIP-TYPE PROGRAMS, THERE'S SURVIVORSHIP PROGRAMS IN GENERAL. I KNOW THEY'RE NOT EVERYWHERE, WE KIND OF HAVE THE LUXURY OF BEING AT AN ACADEMIC INSTITUTION TO BE ABLE TO FOCUS SPECIFICALLY ON THAT, HOWEVER, WE RECOGNIZE THAT SARCOMA IS TREATED DIFFERENTLY THAN SOME OF THE OTHER CANCERS, AND THE CONSEQUENCES THAT YOU MAY EXPERIENCE YEARS LATER. SO I THINK THAT KIND OF EXPERTISE, WHETHER IT'S A SURVIVORSHIP PROGRAM OR A SARCOMA-SPECIFIC SURVIVORSHIP PROGRAM MIGHT BE ABLE TO HELP ADDRESS SOME OF THOSE MEDICAL NEEDS THAT YOU'RE EXPERIENCING. >> YEAH, IF I COULD FIND ONE. THANK YOU. >> THANK YOU SO MUCH TO OUR GREAT PANEL. SHE'S TRYING TO TAKE A PICTURE. THANK YOU SO MUCH, EVERYBODY. [APPLAUSE] >> THANK YOU SO MUCH. I DID NOT WANT TO BE ON THAT SELFIE SO I SNUCK OFF THE STAGE AGAIN. WE HAVE A BREAK FOLLOWING THIS. FEEL FREE TO COME UP IF YOU STILL HAVE QUESTIONS FOR THE PANELISTS, YOU CAN CHAT WITH THEM. I'M GOING TO START OFF THE SESSION WITH ONE OF OUR MEMBERS IN THE OFFICE OF RARE DISEASES RESEARCH. HE IS GOING TO PROVIDE A FEW OPENING REMARKS. WE'LL HAVE A SPECIAL SPEAK E THEN WE'LL GO INTO PANEL DISCUSSIONS FOR THIS LAST SESSION. I'M HAPPY TO INTRODUCE DR. P.J. BROOKS TO TELL US ABOUT THE LAST SESSION AND WHAT WE HAVE PLANNED. DR. BROOKS IS A PROGRAM DIRECTOR IN THE OFFICE OF RARE DISEASES RESEARCH AT NCATS. EARLIER IN HIS CAREER, HE WAS AN NIH INTRAMURAL INVESTIGATOR STUDYING RARE GENETIC DNA REPAIR DISEASES. MAD TO HIS WORK IN ORDR, HE IS ALSO THE WORKING GROUP COORDINATOR FOR THE NIH COMMON FUND PROGRAM OND SOMATIC GENOME EDITING THAT DR. COLLINS REFERENCED EARLIER THIS MORNING. PLEASE JOIN ME IN WELCOMING DR. BROOKS. [APPLAUSE] AND HE HAS THE -- >> THANKS, A ALICE. I'M HAPPY TO INTRODUCE THIS SESSION. CHRIS AUSTIN CAME UP WITH A PHRASE, THE MAGIC IN THE CHALLENGES. THAT'S WHAT WE'RE TALKING ABOUT HERE AND THAT REALLY IS A GREAT SORT OF SUBTITLE FOR THE SESSION WE'RE DOING RIGHT NOW. SO NO DISEASE LEFT BEHIND AND NO PATIENT LEFT BEHIND. SO WHAT WE'RE GOING TO DO FIRST IS HEAR A TALK BY DR. JOHN TISDALE FROM THE NATIONAL HEART, LUNG AND BLOOD INSTITUTE TALKING ABOUT GENE THERAPY AND A NEW GENOME EDITING PROGRAM, CLINICAL TRIAL HE'S ABOUT TO START. AND EMPHASIZE THE EXCITEMENT THERE AND ALSO THE POTENTIAL OF THESE APPROACHES FOR THE TREATMENT OF MULTIPLE DISEASES, SO THAT'S THE NO DISEASE SORT OF LEFT BEHIND PART. AND THEN WE'RE GOING TO HAVE A PANEL DISCUSSION WHICH COINCIDENTALLY FOLLOWS UP QUITE WELL ON THE ONE WE HAD JUST IN THE LAST SESSION ABOUT SOME OF THE CHALLENGES THAT ARE INVOLVED FOR PATIENTS WHEN THEY PARTICIPATE IN THESE CLINICAL TRIALS, AND PARTICULARLY THOSE THAT ARE INVOLVED IN CLINICAL TRIALS OF GENE THERAPY AND GENE EDITING, BECAUSE THERE'S ARE QUITE DIFFERENT THAN A LOT OF TYPICAL KRUG TRIALS WHERE YOU TAKE A PILL FOR A WHILE AND THEN AFTER YOU'RE CON, DONE, THE PILL WASHES OUT. GENE EDITING AND GENE THERAPY ARE PERMANENT CHANGES TO YOUR DNA, THESE TRIAL ARE QUITE DIFFERENT, THE PROCESS OF GETTING IN THEM IS QUITE DIFFERENT, THE LONG-TERM FOLLOW-UP IS QUITE DIFFERENT AND THAT HAS IMPLICATIONS FOR THE PATIENTS AND FAMILIES THAT PARTICIPATE IN THEM. AS WE THINK ABOUT IN THE FUTURE AND THESE TRIES BECOME MORE COMMONPLACE, WE CAN TRY TO ENSURE THAT NO PATIENT IS LEFT BEHIND ALSO. SO LET'S FIRST START WITH DR. JOHN TISDALE. [APPLAUSE] >> THANK YOU FOR THE OPPORTUNITY TO TALK ABOUT SICKLE CELL DISEASE TODAY. I'M GOING TO GIVE YOU A BROAD OVERVIEW OF WHAT WE'VE BEEN UP TO SO I CAN SORT OF SET THE STAGE FOR THE PANEL DISCUSSION. SO SICKLE CELL DISEASE, WE'VE KNOWN ABOUT FOR MORE THAN A CENTURY. AND IT'S ACTUALLY THE FIRST MOLECULAR DISEASE. IT WAS DESCRIBED AS A MOLECULAR DISEASE NOW MORE THAN A HALF A CENTURY AGO AND WENT ON TO GET THE NOBEL PRIZE FOR HIS WORK IN PROTEIN BIOCHEMISTRY. AND IT RESULTS FROM A SINGLE MISSPELLING IN THE GENE FOR A PART OF OUR HEMOGLOBIN. THIS CAUSES SEVERE ANEMIA, VERY FREQUENT AND VERY SEVERE PAIN, ORGAN DAMAGE FROM OCCLUSION OF BLOOD VESSELS FROM THESE ABNORMAL RED BLOOD CELLS, AND THEN FINALLY, EARLY MORTALITY IN THE 40s. IT AT THE MOST RECENT ANALYSIS. IT IS INDEED A RARE DISEASE BY DEFINITION, THERE'S ABOUT 100,000 PATIENTS IN THE U.S., BUT IT'S NOT A RARE DISEASE IN THE WORLD, SO THIS IS A HEAT MAP, YOU CAN SEE IN THE U.S., IT HAS ABOUT 100,000 INDIVIDUALS WITH SICKLE CELL DISEASE BUT ACROSS AFRICA AND ASIA, IT'S MILLIONS, IT'S PROBABLY SOMEWHERE BETWEEN 15 AND 30 MILLION INDIVIDUALS. AND WE DON'T HAVE THAT MUCH THERAPY FOR THIS DISEASE DESPITE THE FACT WE'VE KNOWN PRECISELY WHAT CAUSES IT FOR MORE THAN HALF A CENTURY, PAIN MEDICATIONS, I.V. FLUIDS, WE HAVE ONE DRUG THAT REACTIVATES FETAL HEMOGLOBIN, ANOTHER DRUG THAT DOES NOT LOOK LIKE IT'S GOING TO OFFER MUCH MORE THAN WHAT WE CURRENTLY HAVE SO WE REALLY DO NEED CLINICAL TRIALS TO TEST CURATIVE APPROACHES FOR THIS REALLY DEVASTATING DISEASE. THERE IS A CURE FOR THIS RARE DISEASE, AND IN FACT IT'S A BONE MARROW TRANSPLANTATION. IT'S BEEN AROUND FOR A LONG TIME. I DIDN'T INVENT BONE MARROW TRANSPLANTATION BUT IT'S BEEN USED FOR MANY YEARS TO TREAT MORE SERIOUS COMPLICATIONS OF THE BONE MARROW THAT ARE IMMEDIATELY FATAL, LIKE LEUKEMIA. AND THIS PATIENT THAT I MET AT ST. JUDE AROUND FIVE YEARS AGO WAS ACTUALLY THE FIRST PATIENT TO UNDERGO A BONE MARROW TRANSPLANT AND BE CURED OF SICKLE CELL DISEASE. SHE HAD LEUKEMIA AS A CHILD AND THAT LEUKEMIA WAS REFRACTORY TO CHEMOTHERAPY. SHE GOT A BONE MARROW TRANSPLANT FROM A SIBLING AND HAS BEEN FREE OF SICKLE CELL DISEASE SINCE SHE WAS 8 YEARS OLD. SO THE WAY BONE MARROW TRANSPLANTS WORK AND ULTIMATELY GENE THERAPY WOULD WORK IS WE REPLACE THE SEEDS OF THE BONE MARROW THAT MAKE ALL OF THE BLOOD ELEMENTS, LIKE RED BLOOD CELLS HERE THAT ARE ABNORMAL IN SICKLE CELL DISEASE BUT IN CHRONIC GRANULOMA GRANULOMA TUS DISEASE, COULD ALSO BE APPROACHED BY A STRATEGY TO LOOKS TO REPLACE OR REPAIR THESE BONE MARROW STEM CELLS. THAT PATIENT I SHOWED YOU HAD HER BONE MARROW STEM CELLS REPLACED BY SOMEBODY ELSE'S, HER SIBLING'S, BUT IF WE COULD ALSO FIGURE OUT WAYS TO GENETICALLY CORRECT THESE BONE MARROW STEM CELLS, THEN WE COULD GIVE THE PATIENT BACK THEIR OWN CELLS AND HOPEFULLY HAVE NORMAL RED BLOOD CELLS THAT GROW FROM THAT. WE'VE BEEN PURSUING TWO STRATEGIES, ONE IS BONE MARROW TRANSPLANT FROM SOMEBODY ELSE, USUALLY A BROTHER OR SISTER, AND THAT REQUIRES STRINGENT TISSUE MATCHING SO CALLED HLA MATCHING, OR AUTOLOGOUS GENE THERAPY WHERE WE TAKE THE PATIENT'S OWN BONE MARROW AND TRY TO FIX IT AND GIVE IT BACK. SO AFTER THIS PATIENT WAS CURED THAT I SHOWED YOU THE PICTURE OF, MARK WALTERS STARTED A MULTICENTER TRIAL TO USE BONE MARROW TRANSPLANT TO CURE SICKLE CELL DISEASE, NOT THE LEUKEMIA THAT THIS PATIENT HAD BUT, IN FACT, SICKLE CELL DISEASE. HE ACCRUED 22 CHILDREN AND WAS ABLE TO CURE THE MAJORITY OF THESE PATIENTS WITH A STANDARD KIND OF BONE MARROW TRANSPLANT THAT USES HIGH DOSES OF CHEMOTHERAPY AND IMMUNOSUPPRESSION TO KNOCK OUT THE BONE MARROW, TO KNOCK OUT THE IMMUNE SYSTEM SO YOU CAN REPLACE IT WITH SOMEBODY ELSE'S. WE CAN NOW CURE OVER 90% OF CHILDREN WITH THIS APPROACH. WE WENT ON TO TRY AND DEVELOP AN APPROACH FOR ADULTS, PATIENTS WHO COULD MAKE A DECISION ON THEIR OWN ABOUT A TRANSPLANT, AND WE SOUGHT TO DEVELOP A CHEMOTHERAPY-FREE APPROACH BECAUSE WE KNEW WE DIDN'T HAVE TO COMPLETELY REPLACE THE BONE BONE MAYOR TO FIX THE DISEASE, BONE MARROW TO FIX THE DISEASE. MORE THAN A DECADE, WE MOVED INTO CLINICAL TRIAL WITH PATIENTS, TESTING A CHEMOTHERAPY-FREE APPROACH TO A BONE MARROW TRANSPLANT FROM A BROTHER OR SISTER AND THAT WORKED IN ABOUT 90% OF PATIENTS, AND THERE WAS NO MORTALITY AND NONE OF THE BAD COMPLICATIONS THAT WE NORMALLY SEE WITH A BONE MARROW TRANSPLANT FROM A BROTHER OR SISTER WHO WERE SEEN ON THIS TRIAL. SO THIS WAS A BIG MOVE FORWARD FOR US, AND THE PROBLEM IS, THOUGH, THAT ONLY ABOUT 10% OF PATIENT WITH SICKLE CELL DISEASE HAVE A DONOR IN THE FAMILY, SO IF WE CAN CURE 90% OF THOSE PATIENTS, THAT MEANS NINE OUT OF 100 CAN BE CURED WITH THIS KIND OF A TRANSPLANT. SO THEN WE CONTINUED ON OUR QUEST TO TRY AND DEVELOP WAYS TO FIX THE PATIENT'S OWN BONE MARROW, SO WE TAKE THEIR OWN BONE MARROW CELLS, PUT IT IN A FLASK, CULTURE IT IN THE PRESENCE OF A VIRUS THAT WE'VE USED TO TRANSFER THE GENE TO THE BONE MARROW STEM CELLS AND THEN GIVE THAT BACK AS A TRANSPLANT. SO THIS JUST SHOWS HOW IT WORKS. WE MAKE A VIRAL VECTOR, AND IN THIS CASE WE'RE ACTUALLY USING HIV AS THE VECTOR TO TRANSFER THESE GENES. WE GET RID OF ALL OF ITS INFECTIOUS BITS AND WE PUT IN THE BETA GLOBIN GENE WHICH IS MISSPELLED IN THIS DISEASE, THEN THIS ACTS AS A TROJAN HORSE, GOES INTO THE CELL, TRANSFERS THE GENE AND HOPEFULLY WE GET ENOUGH OF THAT TRANSFER TO MAKE A NORMAL HEMOGLOBIN AND FIX THE DISEASE. AND WE'VE WORKED THROUGH CELL LINES, SMALL ANIMALS, LARGE ANIMALS, AND HAVE NOW FINALLY OF MOVED INTO A CLINICAL TRIAL TESTING THIS APPROACH IN HUMANS AND WE'LL HAVE A PATIENT FROM ARE THAT CLINICAL TRIAL ON THE PANEL THAT YOU CAN HEAR FROM. ONCE WE GOT ALL THE INFORMATION WE NEEDED THAT WE WERE FAIRLY CERTAIN THIS WOULD WORK IN HUMANS, THE CLINICAL TRIAL EVOLVED OVER TIME, SO I'LL SHOW YOU THE RESULTS IN GROUP C AFTER WE CHANGE THE WAY WE COLLECT THE CELLS, THE WAY WE CULTURE THE CELLS, THE WAY WE TREAT THE PATIENTS BEFORE THEY COME IN TO GROUP C NOW, WHERE WE THINK WE'VE GOTTEN ALL OF THOSE THINGS RIGHT AND HAVE THE BEST CHANCE OF MAKING THIS WORK. SO PATIENTS COME IN, WE COLLECT THEIR CELLS, THEY GET WHAT WE CALL TRANSDUCED SO THAT THE NEW GENE GOES IN, AND THEN WE GIVE THEM BACK AS A TRANSPLANT AFTER GIVING SOME CHEMOTHERAPY TO MAKE SPACE. AND THIS SHOWS WHAT HAPPENS IN THAT PROTOCOL, SO OVER HERE, ON THE Y AXIS, I'M SHOWING THE HEMOGLOBIN. PATIENTS WITH SICKLE CELL DISEASE HAVE HEMOGLOBINS IN THE 7 RANGE. NORMAL IS 12 TO 15. AND YOU CAN SEE THAT OVER TIME, THESE PATIENTS IN GROUP C HAVE HAD THEIR HEMOGLOBINS GO TO NORMAL, AND IN PINK IS WHAT IS COMING FROM WHAT WE PUT IN TO THEIR BONE MARROW. SO THE VECTOR-DERIVED HEMOGLOBIN IS NOW MORE THAN HALF OF THE HEMOGLOBIN AND THE HEMOGLOBIN LEVELS HAVE GONE TO THE NORMAL RANGE. AND AGAIN, THE PATIENT THAT YOU'LL BE HEARING FROM IS ONE OF THE PATIENTS IN THIS COHORT. SO NOW WE HAVE GENE EDITION STRATEGIES AT LEAST WORKING IN A PRELIMINARY SET OF LESS THAN 10 PATIENTS BUT THE RESULTS ARE VERY ENCOURAGING. WHAT ABOUT FIXING THE GENETIC DEFECT? WE HAVE THIS NEW SYSTEM CALLED CRISPR THAT'S ALL OVER THE NEWS. IT'S A WAY OF BEING ABLE TO CUT DNA VERY PRECISE LEA, AND IT'S KIND OF LIKE THE FIND AND REPLACE FUNCTION ON YOUR WORD PROCESSOR. YOU KNOW, IF YOU HAVE A C AND YOU REALLY WANT AN A, YOU CAN FLIP THAT LETTER NOW WITH THIS TECHNIQUE, AND IT IS IT HAS REALLY BLOSSOMED INTO A VERY POWERFUL TOOL THAT I THINK WE'LL SOON BE DEPLOYING INTO THE CLINIC. WE CAN TAKE THE PATIENT'S OWN BONE MARROW AND INSTEAD OF ADDING A GENE, DO THIS FIND AND REPLACE, FIX JET NE TICK CHANGE THAT CAUSES THE DISEASE DISEASE AND THEN GIVE IT BACK TO THE PATIENT. HERE I'M JUST SHOWING SOME RED CELLS THAT WE MADE FROM PATIENTS WITH SICKLE CELL DISEASE THAT WE USED THIS TECHNIQUE TO TRY AND CORRECT THE GENETIC MUTATION, AND THEN GROW RED CELLS IN A FLASK, PELLET THEM HERE IN THE BOTTOM OF A LITTLE TUBE, THEN LOOK TO SEE WHAT KIND OF HEMOGLOBIN THEY HAVE IN THEM BY STANDARD MEANS LIKE A HEMOGLOBIN ELECTROPHORESIS. SO HERE YOU CAN SEE THIS IS A SAMPLE THAT WE DIDN'T DO ANYTHING TO AND YOU ONLY SEE THE HEMOGLOBIN S BAND, AND IN THESE CORRECTED SAMPLES AT DIFFERENT CONCENTRATIONS OF CAS9 AND DIFFERENT TYPES OF CAS9 PROTEIN, YOU CAN SEE ALMOST COMPLETE CORRECTION TO THE NORMAL TYPE HEMOGLOBIN USING STRATEGY. SO I'LL SUMMARIZE TO SAY THAT SICKLE CELL DISEASE IS A SINGLE GENE DISORDER, IT'S REALLY THE PROTOTYPE DISORDER FOR SO MANY YEARS FOR GENETIC TYPES OF THERAPIES. WE'VE ESTABLISHED NOW THAT BONE MARROW TRANSPLANT CAN BE A ONE-TIME CURE FOR THIS DISEASE, BUT UNFORTUNATELY IT MOSTLY REQUIRES HAVING A MATCH IN THE FAMILY, WHICH MOST PATIENTS DON'T HAVE. SO NOW WE HAVE GENE THERAPY TRIALS THAT ARE OPEN HERE AT THE NIH AND ELSEWHERE, AND WE'RE MOVING TOWARDS GENE EDITING TRIALS NOW BECAUSE WE HAVE THE TOOLS TO APPROACH GENE EDITING IN THIS DISEASE. AND TO MAKE A POINT THAT'S BEEN MADE OVER AND OVER TODAY, PARTICIPATION IN CLINICAL TRIALS TESTING THESE NEW APPROACHES SHOULD IMPROVE THE OUTLOOK FOR PATIENTS WITH SICKLE CELL DISEASE AND IN OTHER RARE DISEASES WHERE THE GENETICS ARE KNOWN AND THESE TOOLS CAN BE DEPLOYED TO APPROACH THEM. SO WITH THAT, I'LL STOP. [APPLAUSE] >> GREAT. THANK YOU VERY MUCH, JON, FOR THAT, AND NOW WE'LL HAVE OUR PANEL COME UP. AND ALSO ENT DUES INTRODUCE THE MODERATOR FOR THIS SESSION, DR. JONATHAN JACKSON, CENTER DIRECTOR FOR COMMUNITY ACCESS, RECRUITMENT AND ENGAGEMENT, THE CARE REEF SECH CENTER AT MASSACHUSETTS GENERAL HOSPITAL. JONATHAN? >> OKAY. GOOD AFTERNOON, EVERYONE. I KNOW THAT THIS IS THE LAST PANEL STANDING BETWEEN YOU AND HAPPY HOUR OR A TOUR OF THE LIBRARY OR MAYBE NETWORKING WITH SOME GREAT COLLEAGUES THAT YOU MET TODAY SO I WILL DO MY BEST TO KEEP THIS COMPELLING AND INTERESTING AND MOVING RIGHT ALONG. SO MY NAME IS JONATHAN JACKSON, I'M THE DIRECTOR OF THE CARE RESEARCH CENTER AT MASS GENERAL HOSPITAL, OUR GROUP IS REALLY FOCUSED ON MAKING SURE THAT RESEARCH TRIALS ARE DESIGNED AND INCLUSIVE FOR EVERYONE. SO THAT'S ENOUGH ABOUT ME. WHAT I WOULD LIKE TO REALLY DO INSTEAD IS START INTRODUCING OUR PANELISTS HERE. SO WE'RE GOING TO START OFF WITH DR. TISDALE. IS THERE ANYTHING MORE THAT YOU'D LIKE TO TELL US ABOUT YOURSELF? >> WELL, I'VE BEEN HERE AT THE NIH SINCE 1994. TRYING TO DEVELOP CURATIVE THERAPIES FOR SICKLE CELL DISEASE. SO IF I HAD ONE COMMENT TO SAY, I THINK THAT THE LONG RUN THAT THE INTRAMURAL PROGRAM GIVES YOU TO APPROACH DISEASES HAS NOW FINAL LIBBY GUN TO BEAR FRUIT. >> THANK YOU SO MUCH, JOHN. TESHA SAMUELS. >> MY NAME IS TESHA SAMUELS. I AM A PATIENT OF DR. TISDALE'S IN THE AUTOLOGOUS GENE THERAPY TRANSPLANT. I WAS DIAGNOSED WITH SICKLE CELL AT THE AGE OF IT 2, AND I'M CURRENTLY WORKING WITH D.C. DEPARTMENT OF CORRECTIONS, I'VE BEEN THERE FOR 11 YEARS. I'M A DAUGHTER, A WIFE, A SISTER, A COUSIN, A CHILD OF GOD, AND IF I COULD JUST TAKE ONE SECOND JUST TO THANK MY PARENTS, MY MOTHER, MY AUNT AND MY GRANDMOTHER, MY MOTHER'S BIRTHDAY IS TODAY, CAN EVERYBODY SAY HAPPY BIRTHDAY, MOMMY? >> HAPPY BIRTHDAY! >> I JUST WANT TO TAKE TIME OUT BECAUSE THEY'RE THE REASON THAT I'M HERE, THAT SUPPORT SYSTEM. >> THANK YOU FOR SAYING THAT, TESHA. I THINK IT'S A POWERFUL REMINDER THAT YOU ARE MORE, MUCH MORE THAN JUST A PATIENT, AND MUCH MORE THAN JUST SOMEONE LIVING WITH A PARTICULAR DISORDER. HELEN HEMLEY. >> HELLO. MY NAME IS HELEN HEMLEY, I'M THE PROGRAM MANAGER OF THE CARE RESEARCH CENTER AT MASSACHUSETTS GENERAL HOSPITAL. AND I'M ALSO THE SIBLING OF A WOMAN WITH 22Q11.2 DELETION SYNDROME, ALSO CALLED DEGEORGE SYNDROME OR VCFS IN SOME COMMUNITIES. >> MANDY MANSARAY. >> I'M WITH THE OFFICE OF PATIENT RECRUITMENT HERE AT THE NIH CLINICAL CENTER. I'VE BEEN HERE FOR 20 YEARS, AND 18 OF THOSE I'VE BEEN AT THE CLINICAL CENTER OFFICE OF PATIENT RECRUITMENT, SO I'M HOPING WE CAN PROVIDE SOME INFORMATION TODAY ON HOW YOU CAN NAVIGATE THE SYSTEM TO GET INTO TRIALS. >> AND MIGUEL? >> MY NAME IS MIGUEL NE GRET FROM SAN JOSƒ, CALIFORNIA. MY DAUGHTER IS AMBER AND SHE'S NOW IN A GENE THERAPY TRIAL. >> AS DR. BROOKS MENTIONED EARLIER, THE THEME OF THIS SESSION IS REALLY NO PATIENT LEFT BEHIND, NO DISEASE LEFT BEHIND. WE'RE GOING TO HEAR FROM OUR PANELISTS TODAY ABOUT THEIR VARIOUS EXPERTISES AND VARIOUS PERSPECTIVES ON MAKING SURE THATS A WE ADVANCE THESE INCREDIBLE PROMISING THERAPIES, SOME OF WHICH WERE OUTLINED BY DR. TISDALE JUST NOW, MAKING SURE THAT THAT APPLIES TO AS WIDELY AS POSSIBLE TO AS MANY RARE DISORDERS AS POSSIBLE AND TO AS MANY PEOPLE AS POSSIBLE POSSIBLE. SO WE'RE GOING TO START WITH YOU, DR. TISDALE, JOHN. I WANTED TO MAYBE TAKE A STEP BACK AND ASK YOU ABOUT SOME OF THESE GENE EDITING THERAPIES. I KNOW SOME OF US HAVE HEARD ABOUT GENE EDITING IN THE NEWS, THERE HAVE BEEN SOME REPORTS OF CHINESE SCIENTISTS MODIFYING GENES. WHAT'S THE DIFFERENCE BETWEEN WHAT YOU'RE ADVOCATING FOR AND WHAT'S GOING ON THERE? >> THANK YOU FOR THAT QUESTION. THAT'S A QUESTION THAT IS PROBABLY BEST TO CLEAR UP FROM THE BEGINNING. SO GENE EDITING CAN BE APPLIED TO VIRTUALLY ANY KIND OF CELL. THAT MEANS, FOR EXAMPLE, A FERTILIZED EGG COULD BE EDITED USING THIS KIND OF TECHNOLOGY, AND IN FACT IT'S A VERY POWERFUL TOOL FOR CREATE AING MOUSE MODELS OF DISEASE AND THAT'S BEEN VERY SUCCESSFUL. BUT IT COULD BE ALSO THEORETICALLY, AND NOW WE KNOW IT HAS BEEN APPLIED TO A FERTILIZED EGG OF A HUMAN, AND THAT GETS PROPAGATED INTO HUMANS. WHAT WE'RE ADVOCATING DOING IS NOT THAT. WHAT WE'RE ADVOCATING DOING IS TAKING A TISSUE THAT IS DISEASED DISEASED, LIKE A BONE MARROW FROM A PATIENT, WITH A BONE MARROW BASED DISEASE, AND USING EDITING TO FIX THAT DEFECT IN THAT TISSUE. SO IN THE CASE OF SICKLE CELL DISEASE, WE WOULD BE TAKING BONE MARROW, AND THEN USING CRISPR TO CORRECT THE GENETIC MUTATION IN THE SEED OF THE BONE MARROW, THE STEM CELLS, AND THEN GIVE THOSE BACK AS A TRANSPLANT. THE PATIENT WOULD STILL CARE EAT SICKLE CELL DISEASE MUTATION IN THEIR SPERM OR EGGS AND WOULD STILL BE ABLE TO PASS THAT GENE ON. WE WOULDN'T BE CORRECTING THEM OF SICKLE CELL DISEASE THROUGHOUT THEIR BODY, ONLY IN THE TISSUE THAT'S DISEASED. AND I THINK WE CAN ALL, YOU KNOW, PROBABLY AGREE THAT THAT'S A RATIONAL APPROACH, THAT'S WHAT WE DO WITH A TRANSPLANT THAT YOU HAD IN JUST A LITTLE BIT DIFFERENT WAY, AND THAT IS JUST TO ADD THE GENE INSTEAD OF CORRECTING IT. SO IT'S A VERY DIFFERENT SCENARIO THAN WHAT HAS BEEN REPORTEDLY DONE IN CHINA IN A SET OF TWINS. >> OK. THANK YOU FOR CLEARING THAT UP. I KNOW THAT THERE ARE SOME THAT MIGHT HAVE AN ETHICAL CONSIDERATION OR CONCERN AROUND EDITING PEOPLE'S GENES, BUT I THINK TALKING ABOUT THE DIFFERENCE BETWEEN GERMLINE AND SOMATIC GENE EDITING IS A REALLY IMPORTANT ASPECT TO CLEAR UP HERE. I HAD ANOTHER QUESTION FOR YOU. SO YOU'VE BEEN A RESEARCHER FOR A LITTLE WHILE NOW. ONE OR TWO YEARS, I BELIEVE. WHAT CHANGES HAVE YOU SEEN IN THIS SPACE THAT REALLY GIVES YOU A STRONG SENSE OF HOPE AROUND THESE THINGS? YOU WERE SO EXCITED AND PASSIONATE IN TALKING ABOUT THESE ADVANCES IN THE SICKLE CELL SPACE. IS IT REALLY LIKE THESE GENE EDITING TECHNIQUES THAT MAKE YOU FEEL LIKE WE CAN FINALLY DEVELOP THERAPIES THAT WORK FOR A LOT OF PEOPLE? >> WELL, I AM REALLY EXCITED ESPECIALLY ABOUT THE ABILITY TO DO GENE EDITING. SO WHEN YOU'VE BEEN DOING SCIENCE FOR A WHILE, YOU READ ABOUT NEW THINGS AND YOU RUN OFF TO THE LAB AND TRY THEM, AND THEY ALMOST NEVER WORK LIKE THEY'RE DESCRIBED. THERE'S THIS AMAZING NEW TECHNIQUE FOR EDITING GENES, AND THERE HAVE BEEN A NUMBER IN MY TIME AS A SCIENTIST THAT WE RAN OFF IT TO THE LAB AND TRIED AND THEY JUST DIDN'T WORK, OR IF THEY WORKED, THEY WORKED IN ONE IN A MILLION CELLS, WHICH IS NOT NEARLY ENOUGH TO FIX MOST IF NOT ALL DISEASES. SO YOU GET A LITTLE DISILLUSIONED AFTER A WHILE, AND THEN CRISPR COMES ALONG, AND WE HAVE THESE VIRAL VECTORS WHICH ARE COMPLEX TO MAKE, I DIDN'T REALLY SAY MUCH ABOUT THAT. BUT IF I HAVE A POSTDOC IN THE LAB THAT I WANT TO TRAIN TO DO THIS KIND OF WORK, IT TAKES YEARS FOR THEM TO BE ABLE TO LEARN VIRAL VECTORS AND MAKE VIRAL VECTORS. BUT WITH CRISPR, YOU CAN ORDER THE REAGENTS, AND, YOU KNOW, THROW THEM INTO A MIX OF CELLS AND ASSAY THEM THE NEXT DAY AND IT'S LIKE MAGIC. I MEAN, IT REALLY WORKS AS DESCRIBED. AND IT'S A HUGELY POWERFUL TOOL NOW TO START THINKING ABOUT WAYS TO CORRECT GENETIC DISEASES, SO I'M REALLY EXCITED ABOUT THE PROSPECTS. THERE'S STILL A LOT IT TO LEARN, WHAT HAPPENS WHEN WE TRY TO FIX ONE GENE AND WE END UP CHANGING SOME OTHER GENE, THERE'S STILL A LOT TO LEARN AS I SAID, BUT IT'S BEEN, YOU KNOW, LIKE MAGIC TO SEE THESE RESULTS OF MOVE SO QUICKLY. >> IT'S REALLY ENCOURAGING TO HEAR A SCIENTIST TALKING ABOUT MAGIC IN THE LAB. [LAUGHTER] SO THANK YOU FOR THOSE COMMENTS. I WANT TO MOVE ALONG TO TESHA SAMUELS WHO, AMONG OTHER IDENTITIES, IS A PATIENT OF DR. TISDALE'S. TESHA, LET'S TALK ABOUT ACCESS. WHAT WAS THE PROCESS LIKE, HOW DID YOU GET INTO A CLINICAL TRIAL, AND DID YOU HAVE ANY CONCRNS ALONG THE WAY? >> SO I GOT IN TO THE CLINICAL TRIAL I WOULD SAY AS A PATIENT TO MAKE SURE YOU'RE YOUR BEST ADVOCATE, ESPECIALLY IF YOU HAVE A RARE DISEASE, IT'S SO IMPERATIVE TO DO YOUR RESEARCH, AND SO THAT WAS ONE OF THE WAYS THAT I FOUND NIH. I GREW UP HERE IN PG COUNTY, SO NIH IS IN MY BACKYARD. HOWEVER, I WENT YEARS NOT KNOWING THAT THERE'S EXCITED DOCTORS AND STAFF HERE AT NIH DOING AMAZING WORK TO TRY AND FIND A CURE FOR MY ILLNESS. SO AS FAR AS ACCESS, WHAT I DID WAS I KEPT CHECKING BACK EVERY YEAR, THE WEBSITE FOR NIH CLINICAL TRIALS, TO SEE IF THERE WAS ANYTHING AVAILABLE, AND IN 2014, I HAD SIGNED UP FOR ANOTHER CLINICAL TRIAL, AND I KEPT THE EMAIL ADDRESS FOR THE PERSON WHO CONTACTED ME. AND IN 2017, I EMAILED HER AND I SAID, HI, I HAVE SICKLE CELL, I THINK I CAME FOR ANOTHER TRIAL SOME YEARS AGO, AND DO YOU HAVE ANYTHING, AND SHE SAYS, LET ME GET YOU IN IT TOUCH WITH SOMEONE AND I ACTUALLY CAME ACROSS NHLBI, SO THAT'S HOW I BEGAN MY JOURNEY WITH THE TRANSPLANT. >> OKAY. THAT'S AMAZING AND IT SOUNDS LIKE THIS WAS A THIS WAS A YEARS LONG PROCESS FOR YOU. IS THAT CORRECT? >> IT WAS. I MET WITH THE TEAM, DR. SHEA, TIFFANY, STEPHANIE IN, I WOULD SAY, NOVEMBER OF 20, BEGAN TALKING 2016, BEGAN TALKING ABOUT WHAT OPTIONS WERE AVAILABLE FOR ME. I HAD TO SPEAK WITH MY HUSBAND AND MY MOTHER TO KIND OF SAY THIS IS GOING TO BE A LONG HAUL, ARE WE READY TO GO THROUGH THIS, SO YOU CHECK WITH THEM AND CAME ALONG AND DECIDED TO GO WITH THIS TRANSPLANT. >> OKAY. SO YOU MENTIONED YOUR FAMILY A COUPLE OF TIMES. WE KNOW THAT IT'S YOUR MOTHER'S BIRTHDAY, HAPPY BIRTHDAY. WHAT WAS IT LIKE FOR YOUR FAMILY WHEN YOU WERE GOING ON THIS JOURNEY, BEING SO COMMITTED TO CLINICAL TRIALS? >> WHEN YOU'RE AN ADULT -- I WOULD SAY WHEN YOU'RE AN ADOLESCENT, IT'S ONE THING TO GO IN TO YOUR SUPERVISOR AND SAY MY CHILD IS HAVING TREATMENT DONE, CAN I GET TIME OFF. BUT AS AN ADULT, EVERYONE KNOWS YOU WANT YOUR PARENTS THERE, YOU WANT YOUR FAMILY AROUND YOU TO SUPPORT YOU DURING THAT TIME, SO I WOULD SAY IT WAS A LITTLE DIFFICULT FOR SOME OF MY FAMILY MEMBERS TO COME IN AND TELL THEIR SUPERVISORS, WELL, SHE'S 30 -SOMETHING YEARS OLD SO THEY'RE THINKING YOU'RE AN ADULT, BUT YOU NEED THAT SUPPORT, I WOULD SAY IN ANY CLINICAL TRIAL, FAMILY, PEER, FRIEND SUPPORT IS IMPERATIVE. SO MY TEAM HERE, MY MOTHER, EVERYONE, MY FAMILY HAD TO ACTUALLY DO A SCHEDULE, SO EVERYONE SCHEDULED THEIR TIME OFF WHEN SOMEONE ELSE COULD BE THERE. >> THAT'S REALLY POWERFUL AND REALLY IMPORTANT. FINALLY, I JUST HAVE ONE MORE QUESTION FOR YOU BEFORE WE MOVE ON. WHEN WE WERE DOING THE PLANNING CALLS FOR THIS, YOU SAID SOMETHING THAT WAS REALLY POWERFUL, ACTUALLY I WROTE IT DOWN. I WAS WONDERING IF YOU COULD EXPLAIN WHAT YOU MEANT BY THAT. YOU SAID THAT WHEN YOU FINALLY GOT INTO THIS CLINICAL TRIAL, YOU SAID THAT YOU WERE FINALLY FEELING SEEN FOR THE FIRST TIME. CAN YOU TELL US A LITTLE BIT MORE ABOUT WHAT YOU MEANT BY THAT? >> I THINK I PREVIOUSLY STATED THAT I WAS KILOGRAMMED AT DIAGNOSED AT THE AGE OF 2 AND FOR SO LONG, WE WENT FROM LOCAL HOSPITAL TO LOCAL HOSPITAL, TRYING TO FIND WAYS FOR ME TO JUST FEEL BETTER, TO BE ABLE TO MAKE IT THROUGH THE DAY A LOT OF TIMES WITH PAIN MANAGEMENT, YOU AREN'T HEARD AS MUCH AS YOU NEED TO BE, SO YOU KIND OF FEEL LEFT IN THE BACKGROUND BECAUSE SICKLE CELL IS NOT A DISEASE THAT WAS WILDLY PROMOTED OR EVEN TALKED ABOUT, SO YOU FEEL LIKE, HELLO, I'M HERE, IS ANYBODY CARING ABOUT THE PAIN THAT I'M GOING THROUGH, DOES ANYONE SEE WHAT MY FAMILY AND I ARE GOING THROUGH, SO THAT'S WHAT I MEANT BY THAT. I LOVED THAT RARE DISEASE DAY IS HERE TO BRING AWARENESS, OF NOT JUST SICKLE CELL DISEASE BUT MANY OTHERS. >> THANK YOU SO MUCH, TESHA. MIGUEL, I WANTED TO GO TO YOU NEXT. SO YOU ARE THE PARENT OF SOMEBODY WHO'S LIVING WITH A RARE DISORDER. HOW DID YOU DISCOVER THAT YOUR DAUGHTER HAD A RARE DISEASE? >> HELLO, EVERYBODY. WE FIRST DISCOVERED SOMETHING WAS WRONG WITH AMBER BECAUSE AT THE AGE OF 3 1/2 OR 4, SHE WOULD AUTOMATICALLY JUST START FALLING FOR NO APPARENT REASON, AND WE JUST -- IT BECAME ONCE A MONTH, AND THEN AFTER THAT, IT JUST STARTED BEING LIKE TWICE A MONTH AND THEN JUST WENT TO ONCE A WEEK AND THEN TWICE A WEEK, SO WE FINALLY DECIDED TO SEEK SOME HELP, AND THEN AFTER THAT, WE WENT TO THE PRIMARY DOCTOR, AND THAT'S -- WE ASKED, YOU KNOW, WE TOLD HIM THAT SHE WAS FALLING A LOT. AND HE SAID, WELL, SHE'S HEALTHY, THEY DID ALL THE TESTS ON HER, SHE WAS HEALTHY AND HE SAID IF I WERE YOU, I WOULDN'T WORRY ABOUT IT. SHE'S PROBABLY JUST BEING LIKE CLUMSY OR SHE'S JUST PIGEON TOWED. SO TOED. WE WENT HOME THINKING SHE WAS OKAY, TRIED NOT EVEN PAYING ATTENTION TO IT. SO THEN IT WAS LIKE WITHIN LIKE FOUR MONTHS, YOU KNOW, THAT WE DECIDED U KNOW, THAT WE HAD TO SEEK FURTHER HELP, SECOND OPINION. SO WE DID. WE ENDED UP GOING TO THE FOOT DOCTOR, AND THEN FROM THE FOOT DOCTOR, THEY COULDN'T FIND ANYTHING WRONG SO THEY SENT US TO THE STANFORD AT THE ORTHOPEDIC, AND THEY SEEN HER THERE AND FROM THERE, THEY -- SO THEY SENT US TO THEIR NEUROLOGIST TO DO SOME GENETIC TESTING, AND SURE ENOUGH, THEY CAME BACK THAT SHE HAD A RARE CONDITION. >> WOW, THAT'S A LONG JOURNEY JUST TO DIAGNOSIS. >> YES. >> SO WHAT DID YOU HAVE TO DO TO FIND A CLINICAL TRIAL? WAS IT ALSO KIND OF A LONG PROCESS? >> WELL, NO, IT'S FUNNY BECAUSE THE NEUROLOGIST THAT WAS HELPING US OUT AT STANFORD THAT DID ALL THE TESTING, SHE KIND OF KNEW ABOUT IT, SHE KNEW A DOCTOR FROM HERE THAT SHE WENT TO SCHOOL WITH THAT'S IN CHARGE OF THE TRIAL, SO DR. BARRUCHA, WE WERE KIND OF BLESSED THAT THEY HAD AN IDEA WHAT IT WAS. >> SO HOW DID IT FEEL TO KNOW A NEUROLOGIST WHO DIAGNOSED YOUR DAUGHTER WHO HAPPENED TO GO TO SCHOOL WITH SOMEBODY WHO WAS RUNNING A GAN TRIAL, HOW DID IT FEEL FOR YOU AND YOUR FAMILY? WAS IT SCARY TO POTENTIALLY TRY A CLINICAL TRIAL SM >> WELL, >> ? >>? WELL, YES, IT WAS SCARY. FIRST OF ALL WHEN SHE SAID IT, SHE TALKED ABOUT THE CLINICAL TRIAL AND ALL THAT, I DIDN'T HAVE THE MIND TO THINK ABOUT ANY OF THAT STUFF. WITHIN THE SECOND OR THIRD WEEK, IT'S LIKE, I MEAN, I WAS LIKE BROKEN HEARTED, YOU NO HE, I WAS LIKE, LIKE SOMEBODY BREAKING YOUR HEART IN A MILLION PIECES, AND I COULDN'T THINK. SO ONCE I WENT OVER EVERYTHING, THEN WE GOT AHOLD OF HER AND THAT'S WHEN SHE GOT AHOLD OF THE DOCTORS THERE. >> THAT'S REALLY REMARKABLE. SO WHAT DO YOU HAVE TO DO IN ORDER TO STAY IN THE TRIAL? ARE THERE ANY SACRIFICES THAT YOU'VE HAD TO MAKE? >> YEAH, THERE WERE MANY SACRIFICES. ONE OF THE SACRIFICES, I WAS ABLE TO TRAVEL EVERY THREE MONTHS OR TRAVEL EVERY THREE MONTHS TO -- JUST TRAVEL, AND BESIDES THAT, LEAVING MY FAMILY AT HOME, I HAVE TWO KIDS, AND JUST KNOWING WHERE TO LEAVE THEM, IT WAS HARD. THERE'S A LOT OF SACRIFICES THAT I HAD TO DO. >> OKAY. ALL RIGHT. THANK YOU. AND WHAT GIVES YOU HOPE? >> WHAT IMIFS ME HOPE IS GOD, GOD GIVES ME HOPE, AND ALSO KNOWING THERE'S A PLACE LIKE NIH THAT I KNOW THAT HE PUT, YOU KNOW, THE DOCTORS AND EVERYBODY HERE FOR US AND KNOWING THAT YOU GUYS ARE ONE OF THE GREATEST DOCTORS AND SCIENTISTS, AND THAT REALLY GIVES PEACE IN MY MIND AND MY HEART BECAUSE I KNOW THAT YOU GUYS WOULD DO THE BEST THING POSSIBLE TO FIND A CURE FOR THIS. >> ALL RIGHT. AND THEN -- THANK YOU. [APPLAUSE] I'VE GOT ONE LAST QUESTION FOR YOU, MIGUEL AND THEN I'LL LET YOU GO. WHAT WOULD YOU CHANGE IF YOU COULD TO MAKE THINGS EASIER FOR YOU AND YOUR FAMILY? SO WE ARE TALKING ABOUT NO PATIENT LEFT BEHIND, NO DISEASE LEFT BEHIND. BUT IT WAS A DIFFICULT PROCESS JUST TO GET DIAGNOSED, IT DOES SEEM LIKE THERE ARE SOME CHANGES THAT YOU'VE HAD TO MAKE IN ORDER TO KEEP YOUR FAMILY IN THE TRIAL, LOTS OF TRAVEL EVERY THREE MONTHS. WHAT WOULD YOU CHANGE IF YOU COULD? >> WELL, ONE OF THE THINGS THAT I REALLY APPRECIATED AND IS REALLY HELPING US OUT, IT'S THE CHILDREN'S INN. PLACES LIKE THE CHILDREN'S INN AND FRIENDS OF NIH, THAT THEY'VE REACHED OUT TO HELP. I THINK IF IT WASN'T LIKE FOR THE CHILDREN'S INN, REALLY, I WOULDN'T BE ABLE TO DO THIS. >> THAT'S WONDERFUL. >> YOU KNOW, JUST A PLACE TO STAY AND STUFF LIKE THAT, I DON'T THINK I WOULD BE ABLE TO AFFORD ALL THAT STUFF. SO FOR ME, KNOWING THAT I HAVE SOMEBODY LIKE THEM AND SOMEBODY -- PEOPLE THAT REACH OUT TO HELP IS COMFORTING AND KNOWING THAT, YOU KNOW, I'M ABLE TO DO THIS, BUT SOMETHING THAT I WOULD THINK I WOULD CHANGE IS MAYBE HAVING LIKE -- I KNOW THERE'S A LOT OF FAMILIES OUT THERE THAT ARE GOING THROUGH STUFF AND THEY HAVE FINANCIAL NEEDS, MAYBE LIKE AN EMERGENCY SUPPORT, YOU KNOW, FUND SUPPORT FOR THE FAMILIES OUT THERE. >> THAT WOULD BE -- I THINK THAT WOULD GO A LONG WAY, TRYING IT TO HELP OUT WITH TRAVEL OR LODGING. >> RIGHT, YES. BESIDES SOMETIMES HAVING A MORTGAGE TO PAY AND HAVING TO STAY HERE THREE MONTHS, SIX MONTHS, IT'S VERY DIFFICULT. LIKE FOR ME, IF I DON'T WORK, I'M NOT RECEIVING ANY MONEY. SO IT'S REALLY HARD FOR ME TO COME ALL THIS WAY, YOU KNOW, AND I REALLY HAVE TO PLAN OUT HOW I SPEND MY MONEY. >> OKAY. WELL, THANK YOU FOR BEING HERE TODAY. >> THANK YOU FOR INVITING ME. >> IT'S REALLY WONDERFUL. [APPLAUSE] NEXT I'D LAKE TO TURN TO HELEN HEMLEY, WHO WORKS AT THE INTERSECTION OF LIVING AS A FAMILY MEMBER OF SOMEBODY WHO HAS A RARE DISEASE, AND YOU ALSO SPEND YOUR DAY HOURS WORKING ON KIND OF AN IMPORTANT RESEARCH PERSPECTIVE ON THIS SPACE. SO WHY IS IT IMPORTANT TO THINK ABOUT RURAL COMMUNITIES AND RURAL POPULATIONS WHEN WE'RE TALKING ABOUT ACCESS IN THE RARE DISEASE SPACE OR ANY OTHER FRANKLY? >> RIGHT. SO AS I MENTIONED, MY SIBLING HAS A RARE DISEASE, ALSO WORKING WITH MAKING SURE THAT CLINICAL TRIALS CAN BE MORE ACCESSIBLE TO ALL POPULATIONS, AND I THINK A LOT OF TIMES WHEN WE'RE THINKING OF CLINICAL TRIALS AND PATIENTS, WE'RE SEEING THAT THESE ARE ACCESSIBLE IN CITIES BUT WE'RE NOT THINKING ABOUT HOW RARE DISEASES CAN BE REPRESENTED ACROSS THE COUNTRY AND SO WE'RE TALKING ABOUT NO PATIENT LEFT BEHIND. I GREW UP IN A RURAL COMMUNITY. WE WOULD HAVE TO TRAVEL FOUR-PLUS HOURS EVERY TIME THAT MY SISTER HAD A VISIT TO HER PEDIATRICIAN, AND NOW YOU THAT SHE'S AN ADULT, TO GET THAT ACCESS, SO WE WERE NOT ALWAYS AWARE REEF SOURCES LIKE OF RESOURCES LIKE THE CHILDREN'S INN SO WHEN YOU'RE THINKING ABOUT THOSE ADDITIONAL BURDENS, YOU SHOULD BE DESIGNING YOUR TRIALS TO BE MORE INCLUSIVE INSTEAD OF EXCLUDING THOSE COMMUNITIES THAT HAVE THOSE EXTRA BARRIERS TO BE PART OF THE CLINICAL TRIALS, SO MAKING SURE THEY'RE AWARE OF THE RESOURCES LIKE THE CHILDREN'S INN, OTHER RESOURCES THAT MAY BE AVAILABLE AND TRYING TO FIND WAYS THAT THEY CAN FIT IT INTO THEIR NORMAL DAY TO DAY LIFE, SO THAT IT'S NOT AN EXTRA BURDEN TO JUST FIND WAYS YOUR VICE VOIS IS HEARD IN VOICE IS HEARD IN THE CLINICAL TRIAL SPACE. >> YOU AND I WORK TOGETHER OBVIOUSLY ON AN EVERYDAY BASIS. >> YES, WE DO. >> WHAT'S THE DIFFERENCE BETWEEN TRYING TO HELP PEOPLE ACCESS RESEARCH TRIALS IN THE NON-RARE DISEASE, THE NON-RARE DISORDER SPACE VERSUS TRYING TO DO THIS FOR RARE DISEASES AND DISORDERS, WHAT ARE THE DIFFERENCES THAT YOU SEE? >> SO I THINK THAT THERE ARE DIFFERENCES, BUT I THINK THERE ARE MORE SIMILARITIES THAN ANYTHING. SO SEEING THAT JUST GENERALLY COMMUNICATION IS LACKING IS SOMETHING THAT WE SEE ACROSS CLINICAL TRIALS, AND THAT'S FROM THE WORD OF MOUTH BUT ALSO THE WAY THAT WE'RE ADVERTISING CLINICAL TRIALS AND THE WAY THAT WE ARE LETTING PATIENTS KNOW WE'RE REALLY CREATING COMMUNICATIONS, THAT MAKES SENSE FOR RESEARCHERS BUT MIGHT NOT MAKE SENSE FOR PATIENTS AND FAMILIES. AND I THINK ANOTHER SIMILARITY THAT I SEE IS -- AND MAYBE THIS IS, YOU KNOW, MORE FOR THE RARE DISEASE SPACE BUT DIAGNOSIS AND REPRESENTATION AS WE WERE JUST TALKING ABOUT, SO A LOT OF THE -- ESPECIALLY FOR WHAT MY SISTER HAS, A LOT OF THE SYMPTOMS ARE BASED ON WHITE POPULATION BUT WE KNOW THAT THIS POPULATION OR THIS DISEASE IS REPRESENTED ACROSS POPULATIONS, AND SO HOW WE CAN MAKE SURE TO HAVE REPRESENTATION ACROSS CLINICAL TRIALS IS MAKING SURE THAT WE SEE THAT THERE ARE SYMPTOMS FOR DIFFERENT RACES, DIFFERENT ETHNICITIES, DIFFERENT GROUPS THAT WE'RE NOT FURTHER ACE LATING ISOLATING PEOPLE. SO I THINK COMMUNICATION IS POWERFUL IN MAKING SURE THAT PEOPLE KNOW ABOUT THE OPPORTUNITIES, BUT THEN ALSO THE WORK THAT RESEARCHERS NEED TO DO TO NOT FURTHER ISOLATE PEOPLE WHO HAVE NOT BEEN DIAGNOSED. >> SO I JUST WANTED TO FOLLOW UP ON THAT QUESTION. WHY IS IT THAT YOU -- WHY DO YOU YOU FEEL THAT THERE IS A REPRESENTATION PROBLEM IN THE RARE DISORDER SPACE? ARE THERE BARRIERS IN THE DIAGNOSIS AND ACCESS TO CLINICAL TRIALS FOR RARE DISORDERS THAT ARE DIFFERENT THAN OTHER DISEASES IN YOUR OPINION? >> SO I CAN ONLY REALLY SPEAK TO THE RARE DISEASE THAT I KNOW THE BEST, WHICH IS 22Q AND I KNOW THAT THERE ARE BARRIERS TO BEING DIAGNOSED BECAUSE THE DISEASE REPRESENTS DIFFERENTLY IN EACH PATIENT, AND SO WHEN YOU'RE HAVING A LIST OF SYMPTOMS THAT ARE JUST BASED ON ONE PATIENT POPULATION, THEN THERE'S OBVIOUSLY GOING TO BE BARRIERS TO OTHER PEOPLE BEING DIAGNOSED. I THINK THAT BROADLY, WE SEE THAT AS WELL IN HOW JUST GETTING ACCESS TO SPEAK TO A DOCTOR, BEING ABLE TO AFFORD GETTING TO SPEAK TO A DOCTOR, FEELING SAFE AND CONFIDENT IN SPEAKING TO A DOCTOR ARE ABOUT WHAT YOU'RE SEEING IN YOUR LIFE, AND HAVING DOCTORS WHO UNDERSTAND YOUR BACKGROUND IS A BARRIER TO THE DIAGNOSIS. >> ALL RIGHT. THANK YOU, HELEN. SO NOW I'D LIKE TO TURN MY ATTENTION TO MANDY. I'D LIKE YOU TO KIND OF BRING US BACK TO SOME OF THE LOGISTICS. I FEEL LIKE THE WORK THAT YOU DO IN THE OFFICE OF PATIENT RECRUITMENT IS REALLY RIGHT IN THE MIDDLE OF THIS SPACE OF CONNECTING PATIENTS TO TRIALS, CONNECTING INDIVIDUAL RESEARCHERS TO RESEARCH POPULATIONS. HOW DOES YOUR OFFICE HELP NO PATIENT BE LEFT BEHIND? >> SO WE HAVE A TWO-PRONG APPROACH. WE HAVE NURSES AND ALSO THOSE -- WE HAVE ANOTHER PERSON ON OUR TEAM WHO'S A COMMUNICATIONS SPECIALIST. THEY WORK WITH THE INVESTIGATOR INVESTIGATORS, WE REACH OUT TO THEM, WE MEET WITH INVESTIGATORS, WE GO THROUGH THE PROTOCOLS AND REVIEW THE ELIGIBILITY CRITERIA, INCLUSION, MAKE SURE THOSE INDIVIDUALS THAT NEED TO BE INCLUDED IN THE PROTOCOL ARE CARED FOR BY THE PROTOCOL CAMPAIGNS WE DEVELOP, SO WE DEVELOP A ROAD MAP, WE ANALYZE FIRST THE PROTOCOL AND THEN WE DEVELOP SORT AFTER ROAD MAP WHICH WE CALL A PROTOCOL PLAN, A RECRUITMENT PLAN, AND IN THE RECRUITMENT PLAN, WE DEVELOP STRATEGIES TO HELP THE RESEARCH TEAMS, AND ALSO WE DEVELOP THE MATERIALS AND THE MESSAGING, AND ONCE THEY'VE GONE THROUGH THE IRB, AND GET ALL THIS MESSAGING AND MATERIALS APPROVED, THEN WE'LL HELP IMPLEMENT IT. THE GOAL OF THE IMPLEMENTATION IS TO REACH THIS POPULATION, THESE PATIENTS THAT NEED TO BE INCLUDED IN THE TRIALS, AND WE ENGAGE THE COMMUNITY, WE GO OUT TO DIFFERENT COMMUNITY PROGRAMS, WE'LL VISIT SOME CLINICS, WE HAVE CONTACT WITH ALMOST ALL THE CLINICS IN THE LOCAL AREA, ACTUALLY WE EVEN ATTEND SON CHURCH SOME CHURCH FAIRS, HEALTH FAIRS, ANY PROGRAM THAT WILL HELP US REACH ESPECIALLY RARE DISEASE GROUPS. ONCE THE IMPLEMENTATION HAS OCCURRED, THE GOAL IS FOR THE PARENTS, FAMILIES AND PATIENTS AND HEALTHCARE PROVIDERS TO CALL US. WE ALSO HAVE AN IN-HOUSE CONTACT CENTER. WE HANDLE ABOUT 30,000 CALLS A YEAR. AND THAT'S A LOT, INCLUDING CALLS FOR RARE DISEASES. WE TRIAGE THE CALS, CALLS, MATCH THE PATIENTS TO THE APPROPRIATE PROTOCOLS AND THEN WE MAKE THE CONNECTION AND REFERRALS TO THE APPROPRIATE RESEARCH TEAM. NOW WE OUTREACH A LOT TO THE DISEASE ADVOCACY GROUPS, AND SOMETIMES THE PATIENTS WILL CALL US THAT DO NOT -- THAT WE DON'T HAVE ANY STUDIES FOR. WE'LL DO OUR BEST TO IN SOME CASES WE'LL CALL THE RESEARCH TEAM IF THE STUDY HAS CLOSED, FOR EXAMPLE, OR JUST TO FIND OUT IF THEY'RE TAKING POPULATION OF THE STUDY AND IF NOTHING IS AVAILABLE, WE DON'T JUST LEAVE THEM BEHIND. WE STILL GO TO CLINICAL TRIALS AND TRY TO MATCH THEM TO SOMETHING APPROPRIATE. AND IF ALL ELSE FAILS, THEN WE'LL FIND SOME KIND OF ORGANIZATION THAT WE CAN SEND THEM TO AT LEAST THAT WILL PROVIDE THEM MORE INFORMATION ON HOW THEY CAN MANAGE THEIR HEALTH. >> THAT'S -- LIKE YOU GUYS ARE REALLY GOING, YOU KNOW, TO THE NEXT SORT OF LEVEL IN SUPPORTING PATIENTS. IS THERE A CONVENIENT NUMBER THAT PATIENTS CAN CALL IF THEY'RE INTERESTED IN FINDING OUT WHAT'S AVAILABLE? >> YES. WE ACTUALLY HAVE A BOOTH OUTSIDE, IF ANYBODY WANTS TO STOP BY AND GET INFORMATION, IT'S STAFFED BY SOME OF OUR NURSES HERE. BUT WE ALSO -- OUR NUMBER IS 1-800-411-1222. IF YOU GO TO THE NIH HOME PAGE AND CLICK ON "CLINICAL CENTER," THERE IS A LINK TO THE STUDIES OR PARTICIPATING STUDIES. EITHER OF THOSE WILL TAKE YOU TO OUR WEBSITE. >> SO THERE'S LOTS OF WAYS TO FIND YOU. THAT'S GREAT. WHAT ARE SOME OF THE BIGGEST BARRIERS THAT YOU SEE IN GETTING PATIENTS TO THE APPROPRIATE CLINICAL TRIAL? >> SO SOMETIMES IT'S JUST ABOUT SAMPLE SIZE. SOMETIMES THE INVESTIGATORS, THEY HAVE TO DO THE STUDY IN A WAY THAT'S APPROPRIATE TO THEIR PROTOCOL. SO LET'S SAY, FOR EXAMPLE, DR. TISDALE IS ONLY RECRUITING 15 PATIENTS INTO THIS STUDY. WE MAY HAVE A CALL AND SOMEONE IS INTERESTED IN THAT STUDY BUT YOU IF WE'RE INTEREST INTERESTED IN A REFERRAL, THE RESEARCH CALLS AND SAYS ARE YOU TAKING ANY MORE PATIENTS, AT THAT POINT THEY MAY SAY RIGHT NOW WE ARE NOT RECRUITING ANYBODY. SO SOMETIMES THERE'S SAMPLE SIZE ISSUE AND SOMETIMES THERE'S JUST NO STUDY AT ALL. AND I THINK FOR NIH, I THINK WE'RE DOING PRETTY GOOD BECAUSE WE HAVE A LOT OF STUDIES FOR RARE DISEASE, BUT STILL, WE CAN DO MORE BECAUSE THERE'S MANY MORE RARE DISEASES OUT THERE AND I THINK WE ONLY HAVE LIKE 805 PROTOCOL, MANY OF WHICH PROBABLY FALL WITHIN THE -- >> ONLY 805 PROTOCOLS, HUH? SO YOU SAID WE COULD BE DOING MORE AT THE LEVEL OF NIH, I ASSUME AT THE LEVEL OF INVESTIGATORS, AT THE LEVEL OF PATIENTS. WHAT MORE CAN WE BE COULDING TO MAKE SURE THAT NO ONE IS LEFT BEHIND? >> SO FOR THE CLINICAL CENTER, ESPECIALLY THE OFFICE OF PATIENT RECRUITMENT, WE'RE CONSTANTLY REVISING OUR MESSAGE, WE'RE CONSTANTLY REVAMPING IN OUR WEBSITE AND WE HAVE TO MAKE SURE THAT OUR WEBSITE IS VISIBLE, VISIBLETO EVERYBODY THAT -- SAY, FOR EXAMPLE, TESHA WAS SEARCHING FOR THE SICKLE CELL DISEASE, IF SHE TYPES IT IN, WE NEED TO BE LIKE ONE OF THE FIRST ONES THAT COME UP. SO WE'RE WORKING ON IT, WE'RE DOING THAT EVERY DAY AND RIGHT NOW WE'RE IN THE PROCESS OF REALLY WORKING VERY HARD AT REVISING OUR WEBSITE, OUR MESSAGING, AND WE ALSO ARE OUTREACHING TO VARIOUS COMMUNITY GROUPS IN THE AREA AND WE'LL CONTINUE TO DO THAT, BECAUSE THE MORE WE REACH OUT, THE MORE WE CAN GET INTO ORGANIZATIONS THAT WILL HELP US GET THE WORD OUT TO THE PATIENTS. >> THAT'S WONDERFUL. SO NOW I'D LIKE IT TO ASK QUESTIONS FOR KIND OF ACROSS THE GROUP, SO THIS IS SORT OF A FREE FOR ALL. ANYONE CAN JUMP IN. HOW CAN WE MAKE SURE THAT RARE DISEASE AND RARE DISORDER TRIALS ARE MORE ACCESSIBLE, MORE APPEALING? WHAT KINDS OF INCENTIVES MIGHT HELP? SO WE HEARD WITH MANDY ABOUT MAKING SURE THAT THESE OPPORTUNITIES ARE MORE VISIBLE. WHAT ARE SOME OTHER THINGS THAT WE CAN BE DOING? >> I'LL START. SO I ASKED MY SISTER WHAT SHE WANTED ME TO SAY TODAY AND SHE SAID SHE HAD NOTHING BAD TO SAY ABOUT DOCTORS. SHE WISHED THAT SHE HAD MORE SUPPORT WHEN SHE WAS IN ELEMENTARY SCHOOL, AND MORE SUPPORT NOW THAT SHE'S AN ADULT, SO I THINK THAT IF WE CAN MATCH CLINICAL TRIALS FOR BENEFITS THE PATIENTS WANT TO SEE, WHETHER IT'S IN THE EDUCATION SPACE, ADULT PROGRAMMING, JOB HEALTH, ECONOMIC HEALTH, I THINK THAT THAT WILL BE A REAL VALUE-ADD BECAUSE WE CAN ALSO GET RESEARCH FROM THE LIFESTYLE AS WELL. >> OKAY. I THINK THAT'S POWERFUL. DR. TISDALE. >> I'D LIKE TO ECHO THAT POINT. WHEN YOU'RE DESIGNING A CLINICAL TRIAL IN A DISEASE, WE'RE THINKING ABOUT WHAT WE THINK THE MANIFESTATIONS OF THE DISEASE ARE, BUT WE REALLY NEED TO PARTNER WITH THE PATIENTS TO FIGURE OUT WHAT IT IS THAT'S REALLY MOSTLY AFFECTING THEIR LIVES AND THEY WOULD LIKE IT TO SEE CHANGED IN THE CONTEXT OF A CLINICAL TRIAL AND MAKE THAT THE OUTCOME. WE'VE BEEN TRYING TO DO THAT IN THE SICKLE CELL DISEASE SPACE BUT I THINK THAT'S ACROSS THE BOARD SOMETHING WE SHOULD DO BETTER. >> MANDY, YOU'RE HOLDING YOUR MICROPHONE LIKE YOU HAVE A -- NO? ALL RIGHT, WITHDRAWN. I DO WANT TO FOLLOW UP ON THAT, JOHN. WHAT DO WE NEED TO DO TO MAKE SURE THAT NO ONE IS BEING LEFT BEHIND HERE? IS IT REALLY AS SIMPLE AS MAYBE LOOKING TO THESE ELEMENTS OF GENETIC EDITING? SHOULD WE BE LOOKING FOR UNDER KS LYING UNDERLYING SIMILARITIES ACROSS DISEASES, LOOKING AT THE GENOMIC PRESENTATION, IS THAT WHAT WE HAVE TO DO NEXT? >> WELL, I THINK WE HAVE TO BE TACTICAL IN THE DISEASES THAT WE APPROACH FIRST, HAVE THOSE BE THE DISEASES WHERE YOU THINK THERE'S THE MOST -- THE GREATEST LIKELIHOOD OF SUCCESS SO THAT WHEN YOU LEARN FROM THAT DISEASE, YOU CAN THEN BEGIN TO MOVE INTO DISEASES WHERE YOU STILL HAVE MORE TO LEARN SO I THINK THAT'S PART OF THE REASON WHY I THINK AT THE MOMENT, SICKLE CELL DISEASE IS FINALLY SORT OF FLUSH WITH VERY PROMISING OPTIONS BECAUSE IT IS A DISEASE THAT WE KNOW SO MUCH ABOUT, AND WE KNOW FROM OTHER TYPES OF CURATIVE THERAPIES HOW THOSE LOOK. SO I THINK WE NEED TO START IN THE PLACES AS I SAID WHERE WE KNOW WHAT A SUCCESS LOOKS LIKE, AND WE HAVE THE TOOLS TO BRING THAT SUCCESS BEFORE WE START TO MOVE INTO AREAS WHERE WE'RE LESS SURE. YOU KNOW, I HAVE A MANAGER IN MY LAB WHO'S ALWAYS SAYING STEP BY STEP IS ALWAYS FASTER. SO I THINK WE STILL NEED TO STAY GROUNDED AND GO STEP BY STEP AND MAKE SURE WE'RE MAKING ALL THE RIGHT STEPS AS WE GO. >> SO HOW CAN WE WORK TOGETHER ACROSS OUR VARIOUS SECTORS FROM OUR VARIOUS PERSPECTIVES, WHETHER WE'RE LIVING WITH A RARE DISEASE, WHETHER WE'RE FAMILY MEMBERS, RESEARCH SCIENTISTS OR NURSES, HOW CAN WE WORK TOGETHER IN THIS SPACE? IT SOUNDS LIKE EVEN WITH 800-PLUS PROTOCOLS, THAT'S NOT ENOUGH, IT SOUNDS LIKE THERE'S STILL A LONG ROAD TO DIAGNOSIS AND SOMETIMES A LONGER ROAD TO BEING PLACED ON A CLINICAL TRIAL. WHERE CAN WE START WORKING TOGETHER? WHERE IS THE COLLABORATIVE OPPORTUNITIES? >> I THINK IT STARTS WITH A SPACE LIKE THIS. I WAS SPEAKING WITH A FEW PEOPLE TODAY IF IN 1990, MY MOTHER AND I HAD A RARE DISEASE DAY WHERE WE KNEW THAT THERE ARE EXCITED SCIENTISTS AND PATIENT ADVOCATES WHO ARE LOOKING FOR -- THEY'RE LOOKING FOR US, FROM WHAT IT SOUND LIKE FROM MANDY, THEY'RE NOW SEEKING US OUT, WHEREAS YEARS AGO, WE FELT LIKE WE HAD TO BE THE SEEKERS. SO I THINK A SPACE LIKE THIS HELPS TO DO THAT. >> OTHER THOUGHTS? MANDY? >> AND FOR US HERE, I THINK IT ALSO STARTS WITH OUR INTERNAL PROCESS. SO WHAT WE AT THE OFFICE OF PATIENT RECRUITMENT HAVE STARTED DOING MOUNTAIN DOING IN THE PAST SEVERAL SMONTS REACHING OUT TO ALL OUR INVESTIGATORS AND THE RESEARCH TEAM AND JUST LETTING THEM KNOW THAT WE'RE HERE TO HELP THEM, THAT'S OUR JOB, TO HELP THEM GET THE PATIENTS INTO THE PROTOCOLS. OF COURSE WE CAN'T GO BEYOND WHAT PROTOCOL HAS BEEN WRITTEN, THAT'S ANOTHER CHALLENGE, BUT AS FAR AS PROTOCOLS ARE CONCERNED THAT WE HAVE AT NIH, WE CAN HELP THEM GET THE PATIENTS IN, SO IF THERE'S A RESEARCHER WITHIN THE AUDIENCE THAT WANTS HELP, WE'RE HERE, WE'RE THE OFFICE OF PATIENT RECRUITMENT AND YOU CAN FIND US ONLINE, WE'RE WILLING TO HELP AND GET GET PATIENTS INTO THE TRIALS. >> THANK YOU, MANDY. AND THANKS TO ALL OF OUR PANELISTS. WE NOW HAVE A FEW MINUTES FOR Q & A. IF YOU CAN, THERE ARE MICROPHONES MOUNTAIN AISLE. IN THE AISLE. >> HELLO. I JUST HAVE A QUESTION. FIRST OF ALL, I HAVE A RARE CANCER, AND I WAS DIAGNOSED IN 2017 WITH MYELOFIBROSIS. I AM LIKE 50-PLUS YEARS OLD, AND AFTER GETTING THAT DIAGNOSIS, I WAS THEN ALSO TOLD THAT I HAVE SICKLE CELL TRAIT, WHICH IS SOMETHING THAT WAS NEVER TOLD TO ME. AND I HAVE TWO CHILDREN, SO I'M JUST WONDERING, IN SEEMS TO ME LIKE ONCE YOU GET DISCOVERED THAT YOU HAVE CANCER, IT'S LIKE ALL THIS OTHER STUFF IS COMING OUT OF THE WOODWORK, AND THE OTHER QUESTION I WAS CONCERNED ABOUT IS THAT WHEN, WITH RARE DISEASES, HOW MANY PEOPLE OR WHAT DOES IT TAKE FOR A PARTICULAR RARE DISEASE TO GET AN ATTENTION, YOU KNOW? I MEAN, BECAUSE I HAVE THE CANCER BEFORE LEUKEMIA, AND LEUKEMIA HAS BEEN DISCOVERED FOR QUITE SOME TIME, AND I REALIZE THAT WE HAVE ORGAN CANCERS ALONG WITH BLOOD CANCERS. YOU CAN'T PUT ONE IN FRONT OF THE OTHER BECAUSE I BELIEVE THAT THEY'RE BOTH EQUALLY THE SAME, BUT I'M JUST WONDERING WHAT DOES IT TAKE, I MEAN, HOW LONG DOES IT TAKE FOR A RARE DISEASE TO REALLY GET ACKNOWLEDGED BEFORE WE LOSE A LOT OF PEOPLE? BECAUSE I WAS TOLD THAT MY DISEASE WAS AN ADULT DISEASE. WELL, BECAUSE OF BEING A PART OF THIS RARE DISEASE WEE I WEEK, I DISCOVERED THAT IT'S NOT JUST AN ADULT DISEASE. THERE WAS A FAMILY HERE WHO HAD A DAUGHTER WHO WAS A TEENAGER THAT HAD BEEN SICK FOR SOME YEARS UNTIL THEY DISCOVERED WHAT IT WAS, BUT SHE PASSED A AWAY BEFORE THEY COULD FIND OUTMENT SO THAT JUST LIKE TOOK ALL OF THE AIR OUT OF MY BALLOON WHEN I'M THINKING THAT, OKAY, I HAVE A CHRONIC SITUATION, I'M LEARNING TO LIVE WITH IT AND MANAGE IT, BUT THERE'S A GREAT OPPORTUNITY FOR IT TO TURN TO AN ACUTE DISEASE. SO IF WE KNOW THAT LEUKEMIA IS HERE AND IF THERE'S SOMETHING BEFORE LEUKEMIA, WHAT IS IT GONNA TAKE FOR PEOPLE TO START FIGURING OUT THAT THIS, TOO, NEEDS TO BE ADDRESSED BECAUSE WE'RE LOSING SPOUSES, CHILDREN, LOVED ONES, BEST FRIENDS TO THESE PARASITES CALLED CANCER, AND EVERY TIME I TURN AROUND, THERE'S SOMETHING NEW. THERE'S GOT TO BE A COMMON DENOMINATOR SOMEWHERE. >> I'M SO SORRY, WE ARE GOING TO NEED TO TRY TO MOVE ON FOR OTHER QUESTIONS BUT WE REALLY APPRECIATE YOUR COMMENT. I DO WANT TO TURN IT OVER TO THE PANELISTS TO POTENTIALLY WEIGH IN. WHAT DOES IT TAKE TO GET A RARE DISEASE NOTICED? DOES IT TAKE BEING DIAGNOSED WITH SOMETHING ELSE? DOES IT TAKE BEING DIAGNOSED WITH A MORE COMMON DISEASE LIKE CANCER? WHAT HAVE YOU ALL FOUND? >> I CAN'T SPEAK FROM A SCIENTIFIC STANDPOINT BUT I CAN FEEL YOUR PASSION BECAUSE EXACTLY WHAT YOU SAID IS HOW I FELT FOR 36 YEARS. AND SICKLE CELL WAS KNOWN -- A LOT OF TIMES YOU RUN INTO PEOPLE AND YOU SAY I HAVE SICKLE CELL DISEASE, OH, I DIDN'T KNOW ABOUT THAT, AND YOU'RE THINKING, WELL, IT'S A LITTLE MORE PROMINENT THAN SOMETHING LIKE WHAT YOU'VE BEEN DIAGNOSED WITH. I WOULD JUST SAY, AGAIN, BE YOUR OWN ADVOCATE, DO YOUR OWN RESEARCH, FIND ILLNESSES THAT MAY BE SIMILAR AND FIND PATIENTS WHO HAVE A SIMILAR DIAGNOSIS AND SEE WHAT HOMEOPATHIC WAYS YOU CAN -- WE DON'T KNOW WHEN THE SCIENCE COMMUNITY MAY CATCH UP TO YOUR ILLNESS AND IT MAY TAKE SOME SOLDIERS LEAVING US BEFORE THEY FIND A CURE, BUT I WOULD JUST SAY JUST BE YOUR OWN ADVOCATE AND TRY AND FIND YOUR OWN PATHWAY TO HEALING. [APPLAUSE] >> THANK YOU. ARE THERE OTHER COMMENTS FROM THE PANELISTS ON HOW YOU FOUND SUPPORT AROUND YOUR RARE DISEASE OR RARE DISORDER THAT YOU WERE MANAGING? WAS THERE A BUILT-IN COMMUNITY, DID YOU HAVE TO MAKE IT, DID YOU HAVE TO FIND IT? HELEN? >> I WOULD AGREE WITH WHAT TESHA SAID, YOU REALLY HAVE TO HAVE A CHAMPION TO BE HEARD, A LOT OF TIMES THAT COULD BE A PARENT OR A CAREGIVER, AND I THINK IT'S IMPORTANT TO SUPPORT CAREGIVERS ACROSS THE LIFESPAN BECAUSE THEY ARE ALSO GOING TO BE THOSE CHAMPIONS TO MAKE SURE THAT THE RARE DISEASES DON'T GET FORGOTTEN IN THE CLINICAL TRIAL SPACE AND JUST MORE BROADLY, AND SO I THINK THAT THERE'S MULTIGENERATIONAL CAREGIVERS AND THAT THAT OFTEN GETS FORGOTTEN, SO I HOPE THAT WE CAN CONTINUE TO GIVE VOICES TO CHAMPIONS ACROSS THE LIFESPAN. >> THANK YOU. NEXT QUESTION. >> GOOD AFTERNOON, DR. JACKSON AND TO THE PANELISTS. I HAVE TWO QUICK QUESTIONS. ONE FOR NURSE MANSARAY AND ONE FOR DR. TIS DALDALE. NURSE MANSARAY, YOU MENTIONED THAT YOU'RE TRYING TO INCREASE EFFORTS TO GET THE INFORMATION OUT TO THE PUBLIC ABOUT THE CLINICAL TRIALS AND TO RECRUIT VOLUNTEERS TO PARTICIPATE. DOES THAT MEAN THAT YOU'RE GOING BEYOND JUST USING DIJ AT THAT TIME MEDIA? DIGITAL MEDIA, DO YOU ACTUALLY GO OUT INTO COMMUNITIES TO EDUCATE AND TRY TO RECRUIT IN THAT CAPACITY? AND FOR DR. TISDALE, I'D LIKE TO KNOW IN TERMS OF -- I UNDERSTAND CRISPR IS RELATIVELY NEW AND THERE'S STILL A LOT TO LEARN ABOUT IT, BUT IN YOUR PROJECTIONS AROUND THIS PIECE OF SCIENCE, DO YOU THINK IN COMPARISON TO BONE MARROW TRANSPLANT AND STEM CELL TRANSPLANTATION THAT GENE ID EDITING HAS THE POTENTIAL TO BE A VIABLE CURE FOR SICKLE CELL DISEASE AND DO YOU THINK IT ALSO WOULD BE AVAILABLE TO EVERY CHILD AND ADULT LIVING WITH A DISEASE BEYOND JUST THE U.S.? BECAUSE MOST THINGS THAT ARE HAPPENING HERE ARE NOT COUNTRIES, PARTICULARLY BECAUSE OF THE COSTS. SO DO YOU SEE GENE EDITING AS BEING SOMETHING THAT CAN BE ECONOMICALLY VIABLE OUTSIDE OF THE UNITED STATES? >> MANDY, DO YOU WANT TO START? >> YES, SURE. THANK YOU FOR THE QUESTION. SO WE DO REALIZE THAT DIGITAL MEDIA IS IMPORTANT, BUT IT ALSO HAS ITS PLATFORM. THERE ARE CERTAIN DIAGNOSES OR CERTAIN POPULATIONS THAT YOU HAVE TO GO BEYOND WHAT DIGITAL PLATFORM CAN DO. AND THIS IS A CONSTANT DISCUSSION WE'RE HAVING AMONGST OURSELVES, WHERE WE ARE WORKING ON IT, WE'RE NOT THERE YET BUT THIS IS SOMETHING WE STARTED DOING AND EVEN TODAY, WE HAD A MEETING WITH MY SUPERVISOR AND SOME OTHER OF MY COLLEAGUES, WE'RE TALKING ABOUT RE-LOOKING AND REBRANDING OURSELVES AND HOW WE CAN ENGAGE MORE OF THE COMMUNITY. WE'RE DOING IT NOW I'M SURE NOT AS HIGH A SCALE AS EVERYBODY WOULD LIKE US TO DO. SO IT'S SOMETHING WE'RE WORKING ON. WE DO REALIZE THE IMPORTANCE OF BEING EMBEDDED IN THE COMMUNITY. WE ARE DOING SOME BUT NOT AS MUCH AS WE COULD DO AND WE'RE ALWAYS WORKING TO IMPROVE IT. SO YES, THAT'S SOMETHING THAT WE'RE WORKING ON. THANK YOU FOR YOUR QUESTION. >> AND JOHN. >> YES, AND THANK YOU FOR THAT QUESTION AS WELL. SO YOU KNOW, THE TYPES OF STRATEGIES THAT I SHOWED ARE GOING TO BE VERY EXPENSIVE BECAUSE THEY INVOLVE A BONE MARROW TRANSPLANT. SO WHETHER THAT'S GETTING A BONE MARROW TRANSPLANT FROM A BROTHER OR SISTER OR GETTING GENE THERAPY WITH A VIRAL VECTOR OR GETTING GENE EDITING WHICH I THINK IS ON THE HORIZON, WITHIN THE NEXT FEW YEARS, THERE WILL BE CLINICAL TRIALS TESTING THIS. BUT YOU'RE ABSOLUTELY RIGHT, THERE ARE MILLIONS OF PATIENTS OUTSIDE OF THE U.S., MOSTLY IN SUB-SAHARAN AFRICA, IN RESOURCE-POOR SETTINGS WHERE THESE KINDS OF INTERVENTIONS WILL NOT BE FEASIBLE ANYWHERE IN THE NEAR FUTURE, SO I THINK THAT THE EFFORTS THAT WE'RE ALSO TAKING IN THE BACKGROUND IS TO TRY AND FIGURE OUT HOW TO DO THIS WITHOUT HAVING TO DO THE BONE MARROW TRANSPLANT, WHICH IS A REALLY COSTLY PART OF THIS. CAN WE GET CRISPR INTO THE BONE MARROW WITH SOME SORT OF INJECTION THAT WOULD MAKE IT MORE EXPORTABLE, MAKE IT LESS EXPENSIVE, SO THAT'S A WAYS DOWN THE ROAD, BUT THAT'S A DREAM AT THE MOMENT THAT WE'RE WORKING IN THE LAB IT TO TRY AND SOLVE. >> ALL RIGHT. ALICE, DO WE HAVE TIME FOR ONE MORE QUESTION? OVER HERE, SIR. >> DR. TISDALE, YOU SPOKE EARLIER ABOUT THE IMPORTANCE OF STARTING BY FOCUSING ON DISEASES WHERE IT'S MOST LIKELY TO FIND SUCCESS. OVER THE COURSE OF THE DAY, A COUPLE FACTORS OR PARAMETERS IN DEFINING THOSE TYPES OF DISEASES HAVE COME UP, FOR EXAMPLE, A DISEASE THAT IS WELL CHARACTERIZED WHERE THE CAUSES ARE UNDERSTOOD, THE METABOLIC PATHWAYS ARE UNDERSTOOD, DISEASES WHERE THERE'S A SINGLE GENE THAT CAN BE IDENTIFIED AS THE PRIMARY CAUSE. CAN YOU SPEAK OF MORE BROADLY THE PARAMETERS THAT YOU THINK ABOUT IN DEFINING A DISEASE AS ONE THAT IS MOST LIKELY TO BE KIND OF AN EARLY SUCCESS IN THESE -- >> WELL, SO I WAS SPEAKING EXCLUSIVELY ABOUT GENE EDITING STRATEGIES BECAUSE I THINK MOST OF WHAT WE KNOW ABOUT DISEASE, WE LEARNED, YOU NO HE, SORT OF BY ACCIDENT BECAUSE SOMETHING WORKED, THEN WE WENT BACKWARDS TO TRY AND FIGURE OUT WHY IT WORKED AND THEN WE LEARNED MORE ABOUT THE DISEASE. SO CLINICAL TRIALS, IN GENERAL, I THINK HELP. I TOOK THIS SLIDE OUT BUT I ALWAYS LIKE IT TO SHOW THIS TREATMENT SLIDE ABOUT ACUTE LYMPHOCYTIC LEUKEMIA WHERE WE WENT FROM CURING NO ONE TO CURING EVERYONE IN THE PEDIATRIC POPULATION, WITH THE SAME DRUGS THAT ARE ALL JUST POISONS THAT ARE MADE INTO CHEMOTHERAPY THAT WORK BECAUSE THEY WENT THROUGH CLINICAL TRIALS AND NO ONE REALLY UNDERSTOOD WELL HOW THEY WORK BUT NOW WE CAN CURE VIRTUALLY ALL KIDS WITH ALL. SO IN THAT SENSE, I WAS SPEAKING JUST ABOUT GENE EDITING STRATEGIES, SO YOU KNOW THE GENE, IT'S GREAT IF IT'S ONE DEFECT THAT'S THE SAME AMONGEVERY PATIENT SO YOU DON'T HAVE TO CHANGE YOUR APPROACH FOR EVERY PATIENT, AND YOU GET ALL OF THAT PART WORKED OUT FIRST, THEN YOU CAN USE WHAT YOU LEARNED THERE FOR THE MORE VARIED TYPES OF DISEASES OR DISEASE THAT HAS A VARIED GENETIC BASIS. THAT'S REALLY WHAT I MEANT BEFORE. DOES THAT CLARIFY? >> THANK YOU. >> ALL RIGHT. SO WE'RE JUST ABOUT OUT OF TIME CH BEFORE. I KIND OF WANT TO SUMMARIZE WHAT WE HEARD TODAY. SO WHEN WE WERE ASKING QUESTIONS AND HEARD SOME OF THE RESPONSES, I SORT OF HEARD THE EMERGENCE OF FOUR MAIN THEMES WHEN IT COMES TO MAKING SURE THAT NO ONE, NO DISEASE IS LEFT BEHIND. FIRST OF ALL WE HAVE TO THINK ABOUT THE TWIN THEMES OF ACCESS AND INCLUSION. SO NOT JUST MAKING SURE THAT THERE ARE ENOUGH TRIALS AVAILABLE BUT MAKING SURE THAT THEY'RE TRULY ACCESSIBLE BY COVERING SOME PATIENT COSTS, REIMBURSING, MAKING SURE THAT PEOPLE HAVE A PLACE TO STAY. AND EVEN AS MIGUEL SAID EARLIER, MAKING SURE THAT YOU MIGHT BE ABLE IT TO HELP OUT WITH SOME HOUSEHOLD PAYMENTS MORD FOR PARTICIPANTS TO STAY INVOLVED IN THESE RESEARCH TRIALS. WE HAD AN EXCELLENT QUESTION FROM THE AUDIENCE THAT WAS TALKING ABOUT THE AFFORDABILITY OF SOME OF THESE CUTTING EDGE THERAPIES, BOTH INSIDE AND OUTSIDE THE U.S. THERE WAS A THIRD THEME OF THE PROMISE OF GENETIC AND GENOMIC MODIFICATION, AND NOW THAT WE KNOW THAT SOME OF THESE VERY ADVANCED, VERY PERSONALIZED THERAPIES ARE ON THE HOR EYE SON, SON, AND MOST POWERFULLY, THERE IS AN EMERGENT THEME OF HOPE THAT THERE ARE THINGS JUST AROUND THE CORNER AND WE NEED TO ENSURE THAT THIS HOPE IS AVAILABLE AND ACCESSIBLE FOR ALL OF US IN AS BROAD A SENSE AS POSSIBLE. SO PLEASE JOIN NE ME IN CONGRATULATING AND THANKING OUR PANEL FOR THEIR WISDOM TODAY. [APPLAUSE] AND THANK YOU FOR BEING PART OF OUR RARE DISEASE HERE AT NIH. >> THANK YOU, DR. JACKSON AND OUR PANELISTS. I WAS REALLY -- THAT WAS A REALLY INSPIRING SESSION BY ALL OF YOU, THANK YOU FOR SHARING YOUR STORY. BEFORE WE GO TO OUR LAST SPEAKER, WE HAVE A LATEBREAKING ANNOUNCEMENT THAT I WANTED TO SHARE WITH EVERYBODY. SO WE JUST GOT CONFIRMATION THAT THE EMPIRE STATE BUILDING WILL BE LIT UP TONIGHT IN THE COLORS OF RARE DISEASE DAY. THE LIGHTING IS EXPECTED TO APPROXIMATELY 6:00 P.M., AND WILL STAY ON UNTIL 2:00 A.M. THIS IS AN EXAMPLE OF WHAT IT WILL LOOK LIKE. AND THIS INFORMATION IS COURTESY OF THE FORMER DIRECTOR OF THE OFFICE OF PRODUCTS DEVELOPMENT AT FDA. SO JUST WANT TO LET EVERYBODY KNOW, WE JUST HEARD THAT WITHIN THE HOUR AND WANTED TO SHARE IT WITH ALL OF YOU TOO. [APPLAUSE] ALL RIGHT. SO WE'VE HEARD SO MUCH ABOUT THE CHILDREN'S INN. WE SAW A LITTLE ABOUT WHAT THEY DO THIS MORNING WITH AMBER AND HER UNVEILING. WE WERE ABLE TO HEAR SOME OF THE REMARKS FROM MIGUEL, AMBER'S FATHER JUST NOW, AND NEXT I WANTED TO ACTUALLY INTRODUCE OUR NEXT SPEAKER, JENNIE LUCCA IS THE CEO OF THE CHILDREN'S INN AT NIH. THIS IS LOCATED DIRECTLY ACROSS FROM THE NIH CLINICAL CENTER, THE NON-PROFIT ORGANIZATION PROVIDES FREE LODGING AND A WIDE RANGE OF SUPPORTIVE SERVICES TO FAMILIES OF CHILDREN AND YOUNG ADULTS WITH RARE OR SERIOUS ILLNESSES WHO ARE PARTICIPATING IN CLINICAL RESEARCH STUDIES AT THE NIH. JENNIE HAS MORE THAN 20 YEARS OF EXPERIENCE WORKING IN THE NON-PROFIT SECTOR. SHE PREVIOUSLY SERVED AS THE INN'S CHIEF PROGRAM AND SERVICES OFFICER, OVERSEEING THE DAILY MANAGEMENT OF RESIDENT SERVICES, FAMILY PROGRAMS AND FACILITY OPERATIONS. JENNIE BEGAN HER CAREER IN HER HOME STATE OF ALASKA AND HAS MAINTAINED A LIFELONG FOCUS ON DEVELOPING AND MANAGING FAMILY SUPPORT PROGRAMS IN COMMUNITY AND HEALTHCARE SETTINGS. UNDER JENNIE'S LEADERSHIP, THE END GOAL IS THREE FOLD, TO BE A PARTNER IN DISCOVERY AND HOPE WITH THE NIH, RERELIEVE THE BURDEN OF ILLNESS ON FAMILIES, AND MAKE CHILDHOOD POSSIBLE TODAY AND A CURE POSSIBLE TOMORROW. PLEASE WELCOME ME IN WELCOMING JENNIE. [APPLAUSE] >> THANK YOU VERY MUCH. I FEEL A LITTLE BIT OF PRESSURE BECAUSE DR. JACKSON TOLD YOU YOU WERE ONE SESSION AWAY FROM HAPPY HOUR AND NOW YOU GET ME. BUT I PROMISE TO BE BRIEF. I'M ONE OF THE CLOSERS AND HOPEFULLY UPLIFTING. BEHIND ME YOU WILL SEE PHOTOS OF THE CHILDREN'S INN BUT YOU WILL SEE PHOTOS OF FAMILIES, SOME LIKE YOURSELVES, BUT CERTAINLY FAMILIES WHO ARE DEALING WITH RARE DISEASE, AND YOU'LL SEE THEM ENJOYING SOME OF THE PROGRAMS AND ACTIVITIES THAT WE OFFER AT THE CHILDREN'S INN. WHAT A GREAT PANEL, SO INSIGHTFUL, SO EXCITING FOR ALL OF US. THIS RARE DISEASE DAY IS SOMETHING THAT WE ALL LOOK FORWARD TO EVERY YEAR AND I THINK WHAT'S MOST EXCITING IS IT GETS BIGGER AND BOLDER AND THAT'S A TESTAMENT TO THE VOICE, TO THE PEOPLE, TO THE RARE DISEASE COMMUNITY AND FROM WHAT WE SEE AT THE CHILDREN'S INN, IT'S A TESTAMENT TO THE FAMILIES FAMILIES. MIGUEL, WHO WAS THE FATHER AT THE LAST PANEL AND I KNOW SOME OF YOU SAW AMBER EARLIER IN THE DAY, SHE'S ACTUALLY SITTING UP FRONT HERE, SHE ACTUALLY GAVE HER DAD A THUMB'S UP AFTER HE SPOKE AND YOU'LL SEE HER IN SOME OF THE PHOTOS. A LITTLE FUN FACT ABOUT HER. SHE ACTUALLY WAS A GREETER FOR THE FIRST LADY WHO A COUPLE WEEKS AGO, WHEN THE FIRST LADY OF THE UNITED STATES POPPED BY TO CELEBRATE VALENTINE'S DAY AT THE CHILDREN'S INN, AND IF YOU GOOGLE THE CHILDREN'S INN AND THE FIRST LADY, YOU'LL SEE SOME REALLY BEAUTIFUL PHOTOS OF THE FIRST LADY JUST FULL OF JOY, MEETING AMBER AND HER DAD HAD A COUPLE OF MINUTES TO SHARE AMBER'S STORY AND RARE DISEASES AND WHAT'S GOING ON WITH CLINICAL TRIALS WITH THE FIRST LADY. SO I THINK I'M HERE TODAY JUST TO SHARE A LITTLE BIT ABOUT THE CHILDREN'S IMN AND THE WAY THE CHILDREN'S INN SUPPORTS THE NIH BUT MOSTLY HOW IT SUPPORTS FAMILIES WITH RARE DISEASES. AS A MODEL AND A RESOURCE THAT PERHAPS COULD BE REPLICATED IN OTHER AREAS. I'LL TELL YOU A LITTLE ABOUT WHY WE EXIST. IN THE LATE EIGHTIES, THERE WAS SOME GREAT SCIENTISTS AND CLINICIANS, ADMINISTRATORS, NURSE, DOCTORS, SOCIAL WORKERS HERE AT THE NIH WHO ENVISIONED A PLACE WHERE FAMILIES COULD STAY DURING THEIR TRIPS TO THE NIH FOR TREATMENT, AND IT WAS BECAUSE IN THEIR DAILY WORK, THEY SAW FAMILIES EATING OUT OF VENDING MACHINES, SLEEPING IN WAITING ROOMS, LIVING OUT OF THEIR CARS, DOING WHATEVER THEY COULD TO GET HERE AND STAY HERE, AND EVEN WHEN FAMILIES HAD THE RESOURCES TO STAY IN HOTELS, THEY DIDN'T WANT TO. AND THEY DIDN'T WANT TO BECAUSE OF THE SUPPORT THEY FELT FROM OTHER FAMILIES WHO WERE ON THE SAME JOURNEY. SO IN 1990, THE CHILDREN'S INN AND NIH OPENED ITS DOORS, IT'S RIGHT HERE ON THIS CAMPUS ACROSS THE STREET FROM THE NIH CLINICAL CENTER. AND SINCE THAT TIME, 29 YEARS AGO, WE'VE SUPPORTED MORE THAN 15,000 PATIENTS AND THEIR FAMILIES AND THAT'S CHILDREN THROUGH AGE 30, BY THE WAY. WE INCREASED THE AGE JUST A FEW YEARS AGO TO AGE 30, AND I CAN SEE THAT INCREASING MORE IN THE FUTURE. I WAS LISTENING TO TESHA AND SOME OTHERS WHO SAID, BOY, WOULDN'T THIS HAVE BEEN GREAT AND I TOTALLY AGREE WITH YOU THAT A 25, A 30 YEAR, A 35-YEAR-OLD PATIENT, ANY PATIENT NEEDS SUPPORT WHEN YOU'RE DEALING WITH A DISEASE LIKE THIS. AND OUR GOAL IS VERY SIMPLY, BY PROVIDING LODGING AND SUPPORT SERVICES AND WARM MEALS FREE OF CHARGE, LOTS OF PROGRAMS, THAT'S THAT GREAT PHOTOWITH THE FIRST LADY AND AMBER. LOTS OF FUN PROGRAMS AND ACTIVITIES, IT MAKES IT A LITTLE BIT EASIER FOR FAMILIES TO TRAVEL FROM THEIR HOMES ALL THE WAY HERE TO BETHESDA, MARYLAND TO PARTICIPATE IN A CLINICAL TRIAL. THE FINANCIAL AND EMOTIONAL BURDENS PLACED ON FAMILIES WHO HAVE SEARCHED, YOU JUST HEARD IT IN THIS LAST SESSION, TIRELESSLY FOR A TREATMENT OR FOR A CURE, AND THIRD, IT'S TO EMPOWER THE WORK OF THE GREAT SCIENTISTS AND CLINICIANS SO THAT THEY CAN MAKE MEDICAL DISCOVERIES HAPPEN SO THEY CAN FIND TREATMENTS NOT ONLY FOR THE FAMILIES WHO ARE STAYING WITH US AT THE CHILDREN'S INN TODAY, BUT OBVIOUSLY FOR GENERATIONS OF CHILDREN TO COME AND PEOPLE ALL OVER THE WORLD. AND TO MAKE THAT EVEN MORE PERSONAL, LET'S TAKE AMBER AND MIGUEL AND LETTY. THEY COME FROM SAN JOSƒ. THEY WERE GIVEN THE NEWS THAT THEY HAVE THIS INCREDIBLE PROBABLY ONCE IN A LIFETIME OPPORTUNITY TO PARTICIPATE IN THIS REVOLUTIONARY GENE THERAPY TRIAL, AND THEY ARE SO GRATEFUL FOR THAT OPPORTUNITY. THERE'S SOME REAL OBSTACLES. THEY TRAVEL FROM SAN JOSƒ, YOU HEARD THEM SAY THEY NEED TO BE HERE EVERY THREE MONTHS FOR 10 DAYS AT A TIME. I THINK THE FIRST TIME THEY WERE HERE WAS FOR THREE OR FOUR MONTHS. THEY LEAVE THEIR FAMILY, THEIR NETWORK, THEIR FRIENDS, THEIR SCHOOL, THEIR PETS, WHICH IS A BIG DEAL FOR KIDS AT THE END, THE PETS, TO COMMIT TO THIS CLINICAL TRIAL, AND THAT'S WHERE THE INN STEPS IN. OUR GOAL IS TO TRY TO TAKE CARE OF AS MUCH AS WE POSSIBLY CAN SO WHEN THE FAMILY IS HERE, THEY CAN FOCUS ON WHAT'S IMPORTANT WITH THEIR MEDICAL TREATMENT. SO THAT'S EVERYTHING FROM LODGING TO FINANCIAL SUPPORT TO EMOTIONAL SUPPORT, TO SOME DIVERSIONARY STUFF, AND LASTLY, I SAY WE HAVE THREE GOALS, I WOULD SAY WE PROBABLY HAVE FOUR, AND THAT'S BECAUSE WE TAKE CHILDHOOD REALLY SERIOUSLY TOO. WE'VE SEEN WITH THE 15,000 FAMILIES WHO COME THROUGH OUR DOORS, SO MANY OF THEM CAN'T PARTICIPATE IN THE PROGRAMS AND THE ACTIVITIES THAT THEY SHOULD BE DOING AT HOME. THEY CAN'T PLAY THE SPORTS THAT THEIR PEERS ARE PLAYING, THEY CAN'T GO TO PLAY DATES, AND SO NOT ONLY DO WE MAKE THAT HAPPEN AT THE CHILDREN'S INN, BUT WE TRY TO GO LIKE 10 STEPS FURTHER SO THAT THEY CAN GO HOME AND BRAG ABOUT LIKE I MET BEYONCE OR GET TO THROW THE BALL OH OUT IT AT THE NATS GAME OR MEET SOME REALLY SPECIAL PEOPLE OR TAKE PART IN SOME REALLY GREAT ACTIVITIES, BECAUSE I THINK WHAT'S IMPORTANT FOR FAMILIES ESPECIALLY LIKE AMBER'S IS TO MAKE MEMORIES, AND WHILE THERE'S A TON OF HOPE FOR HER FUTURE, IT'S HOPE RIGHT NOW, AND MAKING MEMORIES RIGHT NOW IS MORE IMPORTANT THAN PLANNING TOO FAR INTO THE TEU TOUR FUTURE. I THINK WE HAVE A VIDEO TO SHARE, AND BEFORE WE SHOW THAT VIDEO, IT'S ANOTHER CHILD, ABRAM, WHO HAS A RARE DISEASE, AND I WAS WITH ABRAM THE OTHER NIGHT, TUESDAY NIGHT, WITH MANY OF THE DIRECTORS OF THE NIH AND MEMBERS OF CONGRESS A AS WE HAVE AN EVENT ON THE HILL, AND HAVE THIS OPPORTUNITY, THIS UNIQUE OPPORTUNITY TO SHARE WITH OUR MEMBERS OF CONGRESS HOW IMPORTANT IT IS TO FUND THE NIH, AND TO CONTINUE TO MAKE MEDICAL RESEARCH A PRIORITY, AND I INTERVIEWED ABRAM, AND ONE OF MY QUESTIONS FOR ABRAM WAS, YOU KNOW, WHAT IS YOUR FAVORITE PART OF THE CHILDREN'S INN, EXPECTING HIM TO SAY ZILLY THE THERAPY DOG OR FOOD ARE OH FUN OR CUPCAKES OR WHATEVER YOU'D THINK A CHILD WOULD SAY, AND ACTUALLY WHAT HE SAID WAS, MY FRIENDS, MY FRIENDS THAT I MEET WHEN I COME TO THE CHILDREN'S INN, AND I COME TO THE NIH, BECAUSE IT'S THE FRIENDS WHO UNDERSTAND ME, IT'S THE FRIENDS I CAN BE TIRED WITH BUT THEY'LL STILL PLAY WITH ME. I THINK THAT IF WE CAN DO THAT FOR EVERY CHILD THAT COMES TO THE INN, EVERY CHILD REALLY THAT HAS TO ENDURE THE DIFFICULTIES OF RARE DISEASE , WE'RE DOING SOMETHING GOOD AND OUR GOAL IS TO DO MORE GOOD. SO SO LET ME SHARE ABRAM WITH YOU. >> WE'RE JEREMY AND JULIA FROM ST. LOUIS, MISSOURI. WE COME TO THE CHILDREN'S INN FOR OUR 8-YEAR-OLD SOB, ABRAM. WHEN WE DECIDED WE WERE GOING TO GO TO THE NIH, WE KNEW IT WAS A LONG SHOT, WE KNEW THERE WAS A LOT OF PEOPLE TRYING TO GET IN TO THE NIH. >> THE DAY THAT WE RECEIVED THE PHONE CALL -- >> IT WAS A GOOD DAY. >> WHEN HE WAS ONLY A COUPLE OF MONTHS OLD, HE STARTED GETTING SICK OFTEN. WE FOUND OUT HE A TRANSIENT IMMUNE DISORDER, HAD A LOT OF HIGH FEVERS AND VIRAL INFECTIONS. >> SO THE CHILDREN'S INN HAS BEEN -- IT'S REALLY HELPED US THROUGH THIS JOURNEY. THEY TAKE CARE OF EVERYTHING FOR US. SO WE DON'T HAVE TO WORRY ABOUT TRYING TO FIND A PLACE TO STAY WHEN WE GET HERE, THE STAFF IS ALWAYS GREAT. WHEN WE WALK IN THE DOOR, IT'S SO RELAXING. >> TO HAVE NO WORRIES ABOUT OUR ARRANGEMENTS -- >> TRULY GRATEFUL. >> FOREVER GREATFULL. GRATEFUL. >> SO LASTLY -- YEAH, THANK YOU. [APPLAUSE] I WISH THERE WAS A CHILDREN'S INN EVERYWHERE. I REALLY DO. THERE ARE PLACES LIKE THE CHILDREN'S INN FOR SURE. SO LASTLY, I JUST WANT TO SHARE WITH YOU THAT THE INN JUST LAUNCHED A STRATEGIC PLAN THAT WE CALLED IN 2025, AND PART OF IN 2025 IS A FOCUS ON THE INN OF THE FUTURE. AS THE INN OF THE FUTURE IS WHAT KIND OF SPACES DO WE NEED TO DESIGN TO SUPPORT THE DISEASE SES THAT WILL BE RESEARCHED HERE IT AT THE NIH CLINICAL CENTER WELL MOO THE INTO THE FUTURE. ALSO A LOT OF WHAT I HEARD TODAY WHICH I'M VERY EXCITED ABOUT THE OTHER PART OF IT IS, WHAT MORE CAN WE DO AT THE CHILDREN'S INN TO TAKE AWAY THE BARRIERS TO PARTICIPATING IN CLINICAL RESEARCH. WE REALLY THINK THAT WE CAN HELP WITH SOME RECRUITMENT AND UNDERSTAND WHAT THOSE OBSTACLES ARE, SO I DO INVITE ANYONE OUT THERE, ESPECIALLY PATIENTS AND FAMILIES, TO HELP US ANSWER THAT QUESTION, TO REACH OUT TO US YOU, TO COME TO THE CHILDREN'S I NSM N AND GIVE CHILDREN'S IN AND GIVE US YOUR ADVICE BECAUSE IT MEANS SO MUCH TO US. I WANT TO SAY CONGRATULATIONS TO OUR FRIENDS AT NCATS ON AN AMAZING RARE DISEASE DAY. [APPLAUSE] WE'VE HAD THE OPPORTUNITY PART OF THIS DAY FOR A FEW YEARS AND LIKE I SAID, IT JUST GETS BETTER AND BETTER EVERY YEAR AND I CAN APPRECIATE HOW MUCH WORK GOES INTO IT. SO THANK YOU VERY MUCH, AND ENJOY YOUR EVENING. [APPLAUSE] >> THANK YOU, JENNIE. SO I'M GOING TO BRING IN THE OFFICIAL CLOSER NOW, DR. AUSTIN IS GOING TO COME UP HERE AND PROVIDE SOME CLOSING REMARKS FOR EVERYBODY WHO'S JOINED US FOR THE WHOLE DAY, AND WE ALSO WANT TO THANK THOSE WHO JOINED US ON THE VIDEOCAST FROM ALL OVER THE WORLD. WE COULD KNOW THAT YOU'RE TUNING IN WITH US TOO AND YEAR SO EXCITED THAT YOU'RE A PART OF OUR DAY TODAY. DR. AUSTIN. [APPLAUSE] >> WELL, SO FIRST OF ALL, I JUST WANT TO THANK EVERYBODY WHO CAME AND SPENT THE DAY WITH US. AS WE SAID AT THE BEGINNING, IN IS A VERY SPECIAL DAY FOR ME, FOR ALL OF NCATS AND ALL OF NIH. AND I DO HAVE TO THANK ALICE AND ANNE AND P.J. AND ERIC AND EVERYONE ELSE WHO DID SUCH AMAZING WORK TO PUT THIS TOGETHER. IT REALLY DOES GET BETTER AND BETTER EVERY YEAR, AND I GET TO CLAIM CREDIT FOR IT, WHICH IS THE BEST PART. I JUST HAD A FEW THOUGHTS. ONE IS, JENNIE DIDN'T TELL YOU THAT SHE'S HAD AN EXPERIENCE RECENTLY WHICH I FOUND SORT OF METAPHORICALLY APPROPRIATE GIVEN THE FACT THAT THEY TAKE CARE OF A LOT OF PATIENTS WITH RARE DISEASES, LITERALLY ABOUT WHAT, SIX MONTHS AGO, THE ROOF FELL IN AT THE INN. AND ALL OF YOU HAVE HAD RARE DISEASES KNOW WHAT THAT FEELS LIKE. IT'S CALLED A DIAGNOSIS. AND WHAT DID JENNIE DO IN THAT SITUATION? SHE JUST GOT UP AND A KEPT GOING. KEPT GOING, AND THE IMNNN IS NOW ALMOST PUT BACK TOGETHER, BUT THIS IS WHAT CHARACTERIZES THIS COMMUNITY, THAT WE JUST HAVE TO PICK OURSELVES UP AND KEEP GOING. AND IF WE DO THAT, THE ONLY WAY WE CAN DO THAT IS BY STICKING TOGETHER, AND THE COMMUNITY -- YOU WOULD BE AMAZED AT WHAT HAPPENED, THE INN COMMUNITY. IT WAS LIKE THE LAST SEEN IN "IT'S A WONDERFUL LIFE." EVERYBODY SHOWED UP TO HELP. THOSE OF YOU, WE'VE HEARD FREQUENTLY TODAY, "I FEEL ALONE." I HEAR THAT EVERY DAY. I HEAR THAT EVERY DAY FROM RESEARCHERS WHO WORK ON RARE DIES DISEASES, FROM REGULATORS WHO WORK ON RARE DISEASES, PATIENTS WHO HAVE RARE DISEASES, BUT SO LET'S ALL BE ALONE TOGETHER, PLEASE, BECAUSE -- [APPLAUSE] BECAUSE WE ALL REALLY DO HAVE MORE IN COMMON THAN WE HAVE WHAT SEPARATES US. JUST A COUPLE POINTS. THE FIRST ISREALLY DO WANT YOUR FEEDBACK FEED AND QUESTIONS. I KNOW THERE'S PROBABLY LOTS OF QUESTIONS THAT YOU MAY BE TOO TIRED OR NOT THOUGHT OF, SO YOU CAN GIVE THOSE -- YOU CAN SEND THOSE TO THE ORDR MAILBOX THAT IS ON SOME OF THE MATERIALS YOU HAVE, BUT ALSO FEEL FREE TO GO TO THE APP AND GIVE US FEEDBACK. WE WANT FEEDBACK ON THE MEETING, WHAT YOU LIKED, WHAT YOU DIDN'T LIKE, HOW WE CAN MAKE IT BETTER NEXT YEAR BECAUSE WE DO WANT TO CONTINUE TO LEARN FROM THIS, AND IF YOU HAVE OTHER QUESTIONS, KNOW THAT WE'LL GET THEM VIA THE APP THERE. I WANT TO GIVE YOU A NUMBER THAT I DIDN'T TELL YOU BEFORE THAT REALLY MOTIVATES OUR FEELING THAT WE NEED TO DO SOMETHING DIFFERENTLY TO NOT LEAVE DISEASES, ANY DISEASE BEHIND. AS CLOSE TO THE LIFETIME OF THE CHILDREN AND ADULTS WHO ARE SUFFERING FROM THESE DISEASES AS POSSIBLE. AND THAT IS, AT THE CURRENT RATE THE, I DID A CALCULATION A FEW YEARS AGO, HOW LONG WILL IT BE BEFORE THERE IS A REGULATORILY APPROVED TREATMENT FOR EVERY DISEASE. I'M AFRAID THE ANSWER IS AT THE CURRENT RATE, IT WILL BE 2,000 YEARS. 2,000 YEARS BEFORE WE NEVER HAVE TO HEAR "THERE'S NOTHING WE CAN DO FOR YOU" AGAIN. AND I WOULD SUBMIT TO YOU THAT THAT IS NOT AN ACCEPTABLE ANSWER ANSWER. AND IT DOESN'T HAVE TO BE AN ACCEPTABLE ANSWER. 30 YEARS AGO WHEN I WAS TRAINING, IN TRAINING, WE KNEW SO LITTLE, WE COULDN'T -- I COULDN'T SAY THAT. I CAN SAY IT TODAY. AND SO WHAT YOU'RE ALL FEELING IS REAL, ABOUT THE POTENTIAL. BUT WE HAVE TO DO THINGS DIFFERENTLY. WE'RE NOT GOING TO GET THERE UNLESS WE ALL DO THIS TOGETHER. A SMALL POINT ABOUT RECRUITMENT, I JUST WANT TO GIVE YOU ANOTHER SITE THAT YOU CAN GO TO, NCATS IS VERY INTERESTED IN THIS RECRUITMENT FOR CLINICAL TRIALS PROBLEM. WE RECRUIT -- WE FUND SOMETHING CALLED THE RECRUITMENT INNOVATION CENTER DOWN AT VANDERBILT, AND THEY HAVE PUT TOGETHER SOMETHING CALLED TRIELS TODAY. IF YOU JUST GOOGLE TRIALS TODAY, IT TAKES ALL THE INFORMATION IN CLINICALTRIALS.GOV AND PRESENTS IT IN A FORM THAT IS PATIENT-CENTRIC AND DISEASE-CENTRIC SO YOU JUST PUT IN SOME OF YOUR CHARACTERISTICS, HOW OLD ARE YOU, WHAT DISEASE DO YOU HAVE, ET CETERA, ET CETERA, AND IT SER CHS CLINTRIALS.GOV AND GIVS YOU THE INFORMATION THAT YOU'RE LOOKING FOR SO YOU MIGHT WANT TO LOOK AT THAT. I WANT US TO THINK AS WE GO FORWARD ABOUT THE DEFINITION OF A TEAM. AND A LOT WHEN WE WORK IN THIS AREA, SOMETIMES WE CAN FIND OURSELVES STEPPING ON ONE ANOTHER AND GETTING RESENTFUL ABOUT ONE ANOTHER, I'VE SEEN THIS HAPPEN, I'M SURE YOU HAVE EVEN WITHIN INDIVIDUAL PATIENT GROUPS. I PREFER IT TO THINK ABOUT A TEAM THE WAY I LEARNED A TEAM. A TEAM IS A GROUP OF PEOPLE OR ORGANIZATIONS THAT HAVE DIFFERENT EXPERTISE, AND THEY COMPLEMENT EACH OTHER. BUT ONLY BY WORKING TOGETHER CAN THEY ACHIEVE A GOAL WHICH NONE OF THEM CAN DO ON THEIR OWN. AND THAT'S THE KIND OF TEAM THAT WE NEED TO REALLY MAKE HEADWAY IN THIS SPACE. AS I SAID AT THE BEGINNING, THE TEAM THAT WE ENVISION IS A TEAM THAT ENVISIONS THE RARE DISEASE ISSUE AS A PUBLIC HEALTH ISSUE. THAT'S WHY WE'VE STARTED THIS CAMPAIGN THAT RARE DISEASES ARE NOT RARE. THEY'RE NOT RARE DEMOGRAPHICALLY, THEY'RE NOT RARE SCIENTIFICALLY, AND THEY MAKE UP, AS WE SAID AT THE BEGINNING, ABOUT AS MANY PATIENTS AS TYPE 2 DIABETES DOES, AND FOR US, THIS HAS IMPORTANT IMPLICATIONS FROM A POLICY POINT OF VIEW, FROM A COMMUNICATION POINT OF VIEW, FROM A SCIENTIFIC POINT OF VIEW. WHAT ANNE TOLD YOU ABOUT THE PLATFORM CLINICAL TRIALS, THAT IS PART OF THE SCIENTIFIC PART OF RARE DISEASES IS NOT RARE, THE MANY DISEASES AT A TIME APPROACH THAT WE'RE TAKING. SO AS YOU GO HOME, I'D ASK YOU TO THINK ABOUT A COUPLE THINGS. FIRST, YOU ARE NOT ALONE. IF WE'RE ALL TOGETHER, NONE OF US ARE ALONE. AND I FEEL VERY STRONGLY AND HAVE SEEN SO MANY TIMES EXAMPLES OF HOW REMARKABLE PROGRESS CAN BE MADE. YOU HEARD ABOUT A NUMBER OF THESE THAT SEEM TO COME OUT OF LEFT FIELD, AND YOU HEARD A NUMBER OF THEM DURING THE COURSE OF THE DAY, AND THOSE WILL HAPPEN INCREASINGLY AS WE GO ON. I WANT US TO THINK ABOUT RARE DISEASES AS A GIGANTIC AND ULTIMATELY BEAUTIFUL JIGSAW PUZZLE, WHERE WE'RE ALL RELATED TO EACH OTHER. THAT'S REALLY HOW I THINK ABOUT RARE DISEASES. I DON'T THINK ABOUT THEM AS DIFFERENT, I THINK ABOUT THEM AS A 7,000 PIECE JIGSAW PUZZLE, MOST OF THE PIECES OF WHICH WE DON'T UNDERSTAND THE POSITIONS FOR, BUT IF WE APPROACH RARE DISEASES THAT WAY, WHERE WE'RE LOOKING AT HOW THEY'RE ALL RELATED TO EACH OTHER, TAKING THIS MANY DISEASES AT A TIME PROBLEM, RARE DISEASES, RARE APPROACH, WHAT I ASK YOU TO DO IS NOT WORK ON YOUR OWN PUZZLE PIECE BUT HOW DO YOU RELATE, WHERE DO YOU FIT INTO THE PUZZLE AND THINK ABOUT THAT VERY PROACTIVELY, WHAT OTHER DISEASES DO YOU RELATE TO? WE KNOW FROM SCIENTIFIC PRINCIPLES IN THE GENOME PROJECT AMONG OTHER THINGS THAT THIS IS TRUE SCIENTIFICALLY, AND WE HAVE TO START ACTING THAT WAY SOCIALLY AS WELL. SO THINK ABOUT HOW YOU RELATE TO OTHER DISEASES FIRST, NOT NECESSARILY SECOND OR LATE. AS YOU THINK ABOUT THIS, I WANT YOU TO THINK ABOUT ONE OF MY FAVORITE QUOTES, WHICH PERTAINS TO THE WORD HOPE THAT WAS USED MUTT MULTIPLE TIMES TODAY, AND THAT FAMOUS QUOTATION IS THAT "HOPE IN ALL SPHERES OF LIFE PERTAINS ONLY TO THOSE WHO TAKE ACTION." AND WITHOUT ACTION, THERE IS NO HOPE. SO I WANT YOU ALL TO FEED YOUR HOPE WITH ACTION. AND I WANT YOU TO DO IT WITH US AND I WANT TO YOU DO IT WITH EACH OTHER AND I WANT YOU TO PROMISE ME THAT YOU'RE ALL GOING TO STAY IN TOUCH WITH EACH OTHER AND STAY IN TOUCH WITH US SO THAT WHEN WE COME BACK HERE A YEAR FROM NOW, WE CAN SAY, WOW, THIS WORLD IS A DIFFERENT PLACE. RARE DISEASES ARE APPRECIATED AS NOT BEING RARE. WE'RE ALL WORKING ON A TEAM. THERE IS RECOGNITION IN THE BROADER COMMUNITY THAT WE ALL LIVE IN THAT RARE DISEASES ARE A PUBLIC HEALTH PROBLEM AND WE'VE GOT THE ATTENTION OF RESEARCHERS AND THE NIH IN OUR POLICY MAKERS DOWNTOWN THAT THIS IS A REAL PRIORITY THAT WE'RE ALL FOCUSING ON TOGETHER. SO THINK ABOUT YOU HO YOU CAN BE PART OF THAT, STAY IN TOUCH WITH US, AND SAFE TRAVELS ON YOUR WAY HOME.