>> GOOD MORNING AND WELCOME BACK. I HOPE EVERYBODY HAD A GOOD EVENING. I JUST WANT TO MAKE SURE THAT EVERYBODY KNOWS I SPOKE LAST NIGHT WITH DR. KORESETZ AND HE'S DOING VERY WELL. HE'S IN GOOD SPIRITS. HE'S HIS COGENT, ARTICULATE SELF AND WELL ON HIS WAY TO RECOVERY AND TO REHABILITATION TO LEARN AGAIN TO MOVE WITHOUT DISCOMFORT. I WANT TO MAKE SURE EVERYBODY KNEW THAT. THIS MORNING WE HAVE SOME COMPONENTS OF THIS SYMPOSIUM AND WILL HAVE A DIFFERENT FORMAT AND I THINK YOU'LL ENJOY GETTING TO KNOW OUR PROGRAM STAFF AND GET TO KNOW ABOUT SPECIFIC ISSUES IN SMALL GROUPS. FIRST WE'RE GOING TO START OFF WITH ISSUES IN DATA STORAGE AND PARTICULARLY IN THE CONTEXT OF OUR "ALL OF US" INITIATIVE AT NIH. I'LL INTRODUCE TWO SPEAKERS WHO WILL INTRODUCE ONE AFTER THE OTHER AND WILL ADDRESS THE ISSUES FOR US. THE FIRST IS DR. DAVID ADAMS. HE HAS EXTENSIVE BACKGROUND THAT INCLUDES TRAINING AND CLINICAL AND BIOCHEMICAL GENETICS. HE WAS ONE OF THE FOUNDING MEMBERS OF THE NIH UNDIAGNOSED DISEASES PROGRAMS WHICH I'M SURE MANY OF THE PATIENTS YOU INTERFACE WITH MAY WE WILL HAVE TAKEN ADVANTAGE OF. AND HE OVERSEES THE PROGRAM'S BIOINFORMATICS EFFORTS. HIS RESEARCH FOCUSES ON FINDING POTENTIAL DISEASE-CAUSING VARIANTS IN GENOMIC DATA. I ALWAYS FEEL LIKE THAT'S FINDING AN INCREDIBLY SIGNIFICANT NEEDLE IN AN INCREDIBLY LARGE HAYSTACK SO I'M IN AWE OF WHAT YOU DO. THE SECOND SPEAKER IS THE DEPUTY DIRECTOR OF NIH'S "ALL OF US" RESEARCH PROGRAM. PREVIOUSLY, SHE COORDINATED THE PRECISION MEDICINE INITIATIVE FROM THE OFFICE OF THE CHIEF OF STAFF AT THE WHITE HOUSE. HER EXTENSIVE BACKGROUND INCLUDES ADVANCING POLICIES CRITICAL TO BIOMEDICAL RESEARCH AND PUBLIC ENGAGEMENT SURROUNDING ETHICAL AND SOCIAL ISSUES INVOLVED WITH NOVEL GENOMIC TECHNOLOGIES. SO DR. ADAMS, WELCOME. >> GOOD MORNING, EVERYONE. THANKS FOR THE OPPORTUNITY TO TALK TO YOU TODAY. SO I'M SURE WHEN DR. KORESETZ WHEN HE WAS INJURED EVERYONE SAID IS HIS HEAD OKAY. I'M SORRY TO HEAR HE GOT HURT BUT BICYCLING YOU TAKE YOUR LIFE IN YOUR OWN HANDS. I'M TRAINED IN GENETICS AND THAT'S TRUE FOR MOST THE PEOPLE WHO STARTED THE UNDIAGNOSED DISEASES PROGRAMS IT HAS A GENETIC FLAVOR AND I HAVE A PARTICULAR INTEREST IN INFORMATICS OR THE COLLECTING AND ANALYZING INFORMATION ABOUT OUR STUDY PARTICIPANTS AND LOOKING AT THEIR GENOMIC DNA AND I LIKE LOOKING AT DATA BECAUSE OF MY TRAINING. I WAS BORN IN SEATTLE AND SPENT THE FIRST 30 YEARS OF MY LIFE THERE MORALS -- MORE OR LESS AND MOVED TO THE OTHER WASHINGTON FOR RESIDENCY AND SEATTLE HAS A REPUTATION FOR BEING A RAINY CITY. IN 2018 THE RAINFALL WAS ABOUT 35.7 INCHES IN SEATTLE. DOES ANYONE CARE TO KNOW WHAT IT WAS HERE? 60. 1? 66.28. IN FACT IN BETHESDA IT WAS 71 WHICH IS TWICE AS MUCH AS SEATTLE. SO DATA'S COOL. PEOPLE COME INTO THIS MEETING HAVE ALL SORTS OF DIFFERENT APPROACHES AND INTERESTS AND NEEDS FOR DATA. MY TALK IS GOING TO BE QUITE GENERAL AND HIGH-LEVEL MEANING GENERAL AND YOU'LL HEAR ABOUT A MORE SPECIFIC PROGRAM FROM STEPHANIE NEXT BUT HOPEFULLY SOME OF THE THINGS I'LL TALK ABOUT WILL BE USEFUL IF YOU HAVE A SMALL GROUP THAT YOU'RE WORKING WITH OR A LARGER GROUP BECAUSE THERE ARE SOME COMMONALITIES. WE COLLECT MANY TYPES OF DATA IN OUR PROGRAM. SOME IS JUST DEMOGRAPHIC, BIOMED RICK -- BIOMETRIC AND GENOMIC FILES WHICH HAVE A REPUTATION OF BEING LARGE BUT EVERYTHING IN C CONTEXT. MY INTEREST IS IN RARE AND UNDIAGNOSED DISEASES AND BECAUSE I STUDIED GENOMIC DATA I'LL USE THAT FOR EXAMPLES BUT HOPEFULLY THERE'LL BE GENERALIZATIONS THAT ARE USEFUL. IN THE NEWS YOU HEAR THE WORD BIG DATA A LOT. WHAT'S IT MEAN? IT'S A WASTE BASKET TERM. THE BIGGEST THING TO TAKE FROM THE SLIDE IS IT'S A RELATIONSHIP BETWEEN THE RESOURCES YOU HAVE FOR ANALYSIS AND STORAGE AND SHEPHERDING OF THE DATA AND THE DATA ITSELF. THE DATA COULD BE BIG BECAUSE IT'S LARGE IN OTHER WORDS, IT'S HARD TO STORE BUT IT COULD JUST BE COMPLEX. IT COULD BE DISTRIBUTED IN CHALLENGING WAYS AND CHANGING QUICKLY AND COULD BE INCOMPLETE AND FOR ANYONE WHO SAT DOWN TO DO ANALYSIS EVEN WITH AN EXCEL SPREAD SHEET IS WHEN THERE'S MISSING DATA SO IT CAN CONTRIBUTE TO A DATA SET BE DIFFICULT TO ANALYZE. BACK TO MY EXAMPLE. THE FILE THAT YOU STORE IN THE COMPUTER FOR A HUMAN GENOME IS ABOUT 100 GIGABYTES. SO YOUR LAPTOP PROBABLY HAS A MUSIC CD HAS .1 GIGABYTES. YOUR LAPTOP PROBABLY HAS A 500 TO 1,000 GIGABYTE HARD DRIVE SO YOU CAN EASILY STORE YOUR GENOMIC INFORMATION ON YOUR LAPTOP HARD DRIVE. TO PUT IT IN CONTEXT THE UNCOMPRESSED TEXT OF WEKI -- WIKIPEDIA IS 10,000 AND IT'S ABOUT 1 BILLION FOR A MOBILE PHONE COP. SO CLEARLY THE TECHNOLOGY IS PROBABLY THERE AND THE QUESTION IS HOW DO WE MATCH OUR NEEDS WITH THE DATA WE'RE TRYING TO STORE AND ANALYZE? AND AGAIN TO MANY OF IT'S NOT JUST SIZE THAT MATTERS. IF I ASK YOU TO TAKE THE WEBSTER'S UNABRIDGED DICTIONARY AND FIND A MISSTEPPING THOUGH IT'S SMALLER THAN THE OTHER FILES WE'VE BEEN TALKING ABOUT IT WOULD BE A BIG JOB BECAUSE THE MATCHING OF THE ANALYTIC CAPABILITY TO THE DATA SET IS THE CHALLENGE. ONE OF THE HUGE THINGS THAT'S 10 OR 20 YEARS IS PRIVACY E LAST CONSIDERATIONS. I THINK MANY OF OUR PRACTICES IN DOING CLINICAL RESEARCH HAS CHANGED AND IT ADDS A LARGE AMOUNT OF OVERHEAD TO THE DATA WE COLLECT. THE NUMBER OF DATA POINTS IS IMPORTANT. YOU COULD OF COURSE STORE ONE GENOME ON YOUR COMPUTER BUT IN THE "ALL OF US" PROGRAM IF THEY DECIDED TO DO IT ON 1 MILLION IT WOULD BE 100,000 TERABYTES AND THAT WOULD BE A LARGE AMOUNT OF DATA SO THE SCALE IS IMPORTANT THERE. I THINK IT'S WORTH TALKING ABOUT WHAT'S HAPPENING AMONG DATA SCIENTISTS. THE FIELD WHERE YOU MAY HAVE HEARD ABOUT MACHINE LEARNING IF YOU'RE NOT INVOLVED IN PROJECTS YOURSELF AND TERMS LIKE BIG DATA AND DATA MINING COME UP FREQUENTLY SO WHAT'S HAPPENING FOR THE PEOPLE WRITING SOFTWARE. YOU MAY HAVE COME ACROSS THE PROGRAMS BEFORE BUT THE IMPORTANT PART IS WHAT IS THE FIELD FOCUSSING ON. THERE'S A BIG PRODUCT BEING USED BY MANY LARGE COMPANIES AND IT'S A WAY TO DO COMPUTING AND STORAGE. INSTEAD OF PUTTING IT ON YOUR OWN COMPUTER OR HARD DRIVE THE IDEA IS IT'S IN A PLACE REMOTE FROM YOU AND ACCESS THE DATA AND PERHAPS ANALYZE THERE. ANOTHER DATA STORM IS PROCESSING DATA IN REAL TIME. YOU RUN THE STUDY A FEW YEARS AND HAVE THE DATA AND SIT DOWN TO ANALYZE BUT YOU MAY WANT TO DO IT IN REAL TIME INCLUDING FOR THE FACT YOU MAY WANT TO CHANGE IT AS IT GOES ALONG AND I'M ENDING A 10-YEAR STUDY AND STARTING A NEW ONE BECAUSE I NEED TO SHIFT FROM ASKING GENERAL QUESTION TO ASKING QUESTIONS TO HELP ME FOR THE NEXT CLINICAL TRIAL TO HAVE GOOD CLINICAL END POINTS AND BY LOOKING AT THE DATA IN REAL TIME I CAN MAKE ADJUSTMENTS HOW I'M COLLECTING THAT INFORMATION FROM THIS PEOPLE THAT WORK WITH ME. THE THIRD PROGRAM IS UTILIZING MULTIPLE DATA SOURCES. INSTEAD OF HAVING IT STORED IN ONE PLACE YOU MAY WANT TO PULL IN DATA. PERHAPS FOR YOUR ORGANIZATION YOU MAY WANT TO PULL IT FROM MEDICAL RECORDS AND GENOMICS AND OTHER DATABASES. THE FOURTH TOOL, RAPID MINER IS MACHINE LEARNING. TURNS OUT HUMANS ARE GREAT AT DOING MANY TYPES OF DATA CAN GIVE A COMPUTER PROGRAM SOME PARAMETERS AND TRAIN IT WITH A DATA SET THAT HAS CHARACTERISTICS YOU'RE INTERESTED IN AND ASK IT TO INTERROGATE NEW DATA SETS AND TASE AND ANALYSIS AND THESE ARE THINGS IN THE FEEL AND HE'S ARE TOOLS THAT COULD POTENTIALLY BE USEFUL TO YOU. AND THERE'S BEEN A GENERATION OF SOME PROJECTS TO USE THE NEW TECHNOLOGIES WE WERE TALKING ABOUT IN THE PREVIOUS SLIDE FOR BIOMEDICAL RESEARCH. SO THESE ARE THREE EXAMPLES. ANVILL WHICH IS THE GENOME INSTITUTE PROJECT AND KIDS FIRST RESOURCE CENTER CHOP AND THE STRIDES INITIATIVE THE RHOADS INSTITUTE AND OTHER ORGANIZATIONS ARE WORKING ON THOSE TOOLS. ESSENTIALLY THEY CREATE AN INTERFACE SO YOU AS A USER SIT DOWN ON A WEB PAGE AND YOUR DATA PLACE SOME PLACE OUT IN THE CLOUD OR GOOGLE OR AMAZON OR MICROSOFT AND YOU ASSEMBLE YOUR SEARCH OR ANALYSIS LOCALLY AND SEND IT OUT TO BE DONE. EVEN IF IT'S MASSIVE YOU DON'T HAVE TO PERFECT YOUR OWN COMPUTERS. IF THE DATA SET IS LARGER OR COMPLEX IN THEORY YOU CAN MAKE USE OF THOSE RESOURCES AND ALL OF THESE INITIATIVES ARE ESSENTIALLY CREATE SIMILAR SORT OF TOOL TO ALLOW THE USER TO SIT AT A REMOTE PLACE AND ACCESS DATA THAT'S STORED IN THE CLOUD. WHAT'S THE WORLD DOING IN DATA SCIENCE? SO THERE'S A BROAD BASED INTEREST IN MACHINE LEARNING A FRIEND ON THE FACULTY AT THE UNIVERSITY OF TORONTO IN COMPUTER SCIENCE AND SAID 90% OF THE GRADUATES THAT COME IN SAY I WANT TO WORK ON MACHINE LEARNING. IT'S A POPULAR APPROACH AND IT'S INTERESTING BECAUSE 10 OR 20 YEARS AGO IT WAS AROUND AND PEOPLE THOUGHT NETWORKS ARE COOL AND IT WAS A BIT OF AN ESOTERIC FIELD BUT NOW IT'S BECOMING MORE MAINSTREAM BECAUSE DATA SETS ARE BECOMING SO LARGE TO INTERROGATE WE'RE TRYING TO FIGURE OUT COMPUTATIONAL APPROACHES TO MAKE THE JOB EASIER. THERE'S ORGANIZATIONS LIKE THE GLOBAL ALLIANCE FOR GENOMIC THAT ARE FRAMING POLICIES AND STANDARDS FOR COLLECTING DATA. IF YOU SAY I HAVE A PROBLEM COLLECTING DATA FROM A BUNCH OF FAMILIES AND WANT TO MAKE SURE IT'S ADEQUATELY ENCRYPTED AND HAD IDENTIFIERS THAT ARE USEFUL AND MATCHES UP WITH OTHER DATA SETS. THERE'S OTHER ORGANIZATIONS WORKING ON STANDARDS FOR DOING THAT WORK AND MAYBE YOU WANT TO TAKE ADVANTAGE OF THE TOOLS, STANDARDS AND PUBLICATIONS THEY'VE DEVELOPED TO DESIGN YOUR DATA PROJECT. THERE'S ALSO LARGE HEALTH CARE DELIVERY SYSTEMS USING DATA WAREHOUSING COLLECTING DATA IN ONE PLACE AND ANALYZING IT. IT'S ANOTHER INITIATIVE. I HEARD DATA'S JUST BEING TALKED ABOUT EVERY PLACE. I WAS AT A CONFERENCE YESTERDAY WHICH WAS THIS SORT OF DOCTORS THAT OVERSEE THE CLINICAL CENTER AND THE WHOLE SESSION WAS ON DATA SHARING AND SOMEBODY MENTIONED THAT JOHNS HOPKINS IS SPENDING, I CAN'T REMEMBER THE NUMBER EXACTLY, BUT LIKE $2 MILLION TO PUT A NEW INFORMATICS SYSTEM IN THEIR HOSPITAL. IT'S BIG MONEY AND BIG PROJECT AND FEEL IT WILL BE USEFUL TO THEM FOR RESEARCH AND MAINTAINING THE REVENUE STREAM FOR THE HOSPITAL. IT'S A SUBSTANTIAL UNDERTAKING FOR HEALTH CARE DELIVERY SYSTEMS. THEN THERE'S GOVERNMENT-FUNDED PROJECTS GENERATING AND STUDYING LARGE DATA SETS IB -- IN "ALL OF US" AND STROKE R NED IS ONE OF THOSE. AND AS SOMEBODY WHO'S BEEN IN THE INTRAMURAL COMMUNITY THERE'S WINDFALL SPENDING TO THE END OF THE YEAR AND THERE'S MONEY LEFT OVER AND YOU FIGURE OUT HOW TO USE IT QUICKLY THROUGH COMPUTERS OR OTHER RESOURCES. AND I THINK THE SAME THING TENDS TO HAPPEN IN GRANTS WHERE THERE'S DIFFERENT ETHICS DURING THE GRANT LIFE CYCLE WHERE YOU'RE SPENDING START-UP MONEY AND MAINTENANCE MONEY AND AT THE END TRYING TO RECONCILE EVERYTHING. THAT IS NOT REALLY HOW COMPUTING IS WORKING THESE DAYS. SO THE WAY THE COMPUTING IS WORKING IS PAY AS YOU GO. THE CLOUD STUFF IS GREAT BECAUSE IF YOU NEED 50,000 PROCESSORS TOMORROW TO DO A BIG PROJECT YOU JUST PUSH A COUPLE BUTTONS AND IT HAPPENS. YOU DON'T HAVE TO BUY THOSE AND AT THE END OF THE DAY YOU HAND THEM ALL BACK AND THAT'S THE POWER OF THE CLOUD. THE CHALLENGE, OF COURSE, IS THAT THAT MONEY HAVE YOU TO BUDGET FOR AND IF YOU'RE GOING TO STORE DATA IN THE CLOUD THERE'LL BE RECURRING COSTS IT'S NOT LIKE YOU OWN A LOCAL COMPUTER AND ONCE YOU PAY YOU'RE DONE, IT'S A RENT TO OWN LIKE MICRO SOFT AND ADOBE AND INSTEAD OF BUYING THE SOFTWARE YOU RENT THE SOFTWARE AND I THINK GENERAL COMPUTING IS GOING IN THAT DIRECTION AND AS WE THINK ABOUT THE DATA PROJECTS IT'S IMPORTANT TO THINK OF HOW WE'LL MATCH OUR FUNDING STREAMS TO THAT NEW REALITY. ALONG WITH THAT IS RESOURCE ESTIMATION AND METERING. I TOLD YOU ABOUT SOME PROGRAMS SOME RESEARCHERS AT THE NIH AND OUTSIDE THE NIH ARE CREATING SO YOU'LL HAVE AN INTERFACE TO RUN A BIG ANALYSIS IN THE CLOUD FROM YOUR OWN COMPUTER. THE CHALLENGE IS THAT IF YOU PUSH A COUPLE BUTTONS AND YOU USE 50,000 PROCESSORS FOR YOUR GIGANTIC DATA SET, YOU'LL BE CHARGED ACCORDING TO THE NUMBER OF PROCESSES YOU START AND THE SIZE OF YOUR DATA SET. SO OF COURSE YOU WANT TO KNOW WHAT THAT BILL'S GOING TO BE. LIKE A TEENAGER WITH A CREDIT CARD YOU NEED PARAMETERS AND SOME TOOLS ARE NOT BEING ADEQUATELY BUILT IN AND I HOPE TO SEE IT COME UP IN THE FUTURE WHERE AS A RESEARCHER OR FOR INSTANCE AS A NON-PROFIT WHO SAYS WE WANT TO LOOK OVER OUR DATA AND ASK A QUESTION ABOUT OPERATIONS AND FUNDING OR ABOUT WHERE WE SHOULD BE PUTTING OUR EFFORTS AS FAR AS HELPING THE PARTICIPANTS IN OUR ORGANIZATION, YOU WANT TO KNOW HOW MUCH THAT ANALYSIS IS GOING TO COST BECAUSE IN THE FUTURE IT'S GOING TO BE EASY TO PUSH A BUTTON AND YOU WANT TO MAKE SURE THAT DOESN'T COST 20 TIMES AS MUCH AS THE LAST TIME YOU PUSHED A BUTTON BECAUSE OF YOUR UNDERLYING DATA SO IT'S A GOOD WAY TO TRACK RESOURCES. WHEN YOU TALK TO THE PEOPLE THAT RUN THESE AND SELL THESE RESOURCES THEY'LL ALWAYS SAY, OH, IT'S FINE, IT'S CHEAP. WE KNOW EVEN THE BEST MINDS IN COMPUTATION DON'T ALWAYS GET ESTIMATION RIGHT. ONE OF THE FAMOUS QUOTES IS ALMOST ALL THE MANY PREDICTIONS NOW BEING MADE ABOUT 1996 HINGE ON THE INTERNET'S CONTINUING EXPONENTIAL GROWTH BUT I PREDICT THE INTERNET WILL GO SUPER NOVA AND THEN COLLAPSE. THIS IS BY AN INVENTOR OF THE EITHER NET AND HIS MIA CULPA WAS TO GRIND UP A COPY OF THE REPORT AND DRINK IT IN FRONT OF AN AUDIENCE. THE LAST THING IS I SEE PATIENTS AND WE WORK TO MAKE SURE THINGS ARE UP TO DATE AND THERE'S CONSTANTLY NEW THREATS. EVERY TIME YOU READ ABOUT A VIRUS OR DATA BREACH IT HURTS THE PEOPLE WHO KEEP THIS RUNNING. YOU THINK HOW MUCH STORAGE IS GOING COST AND YOU THINK OF MAINTENANCE AND ALL THE THINGS THAT GO WITH LARGE DATA STORAGE PROJECTS AS WELL. I THINK OVERTIME, NIH STANDARDS ARE COOKING THIS INTO GRANTS AND STUDY PROPOSALS MORE AND MORE. IT'S IMPORTANT FOR YOU BECAUSE OF COURSE THE DATA BREACH IS GOING TO AFFECT THE CONFIDENCE OF THE PEOPLE INVOLVED IN THE ORGANIZATION IN ADDITION TO ADHERING TO THE RULE. THIS IS PARTICULARLY INTERESTING IF YOU HAVE AN ORGANIZATION THAT'S INTERNATIONAL. LAST NIGHT FROM 3:00 A.M. TO 6:00 A.M. I WAS ON A WORKING GROUP FROM EUROPE AND THIS CAME UP BECAUSE THEY'RE SEEING PATIENTS AND COLLECTING DATA AND THE RECURRING THEMES IS THE RULES ARE DIFFERENT IN DIFFERENT PLACE. I WAS IN HONG KONG VISITING PATHOLOGISTS. THEY HAVE A HOSPITAL IN MAINLAND CHINA AND A HOSPITAL IN HONG KONG AND THEY CAN'T TAKE PATHOLOGY SLIDES BACK AND FORTH EVEN IF THEY HAVE BE AN EXPERT IN ONE PLACE IN HONG KONG, IN PARTICULAR, OR AN INSTRUMENT FOR A PATIENT BECAUSE OF RULES TRANSFERRING ACROSS THE BORDER. SO THERE'S ANOTHER LAYER TO THINK ABOUT. SO IN CONCLUSION, RARELY WILL STORAGE AND COMPUTATION REALLY BE LIMITING FACTORS FROM A TECHNICAL PERSPECTIVE. SOME COMPANY, SOMEWHERE, IS STORING VASTLY MORE DATA THAN ANY OF US ARE LIKELY TO COLLECT THOUGH IT SEEMS BIG. IT'S MATCHING RESOURCES TO THE PARTICULAR DATA YOU HAVE. POLICY, ACCESS, PRIVACY, SECURITY ARE OFTEN BIG ISSUES THAT ARE RECURRING. YOU NEED SOMEBODY TO BE THERE AS THE DATA SET SITS AND ACCUMULATES TO TAKE CARE OF THOSE ISSUES. AND SO WHEN STARTING A PROJECT, PEOPLE CALL ME UP ALL THE TIME WHEN THEY'RE STARTING STUDY PROJECTS AND ONE POINT I TRY TO GET ACROSS IS NOBODY REALLY WANTS TO THINK ABOUT I.T. INFRASTRUCTURE AS AN EXCITING THING TO FUND FOR THEIR PROJECT. IT'S GREAT TO TALK ABOUT FAMILIES AND PATIENTS AND CLINICAL DATA AND RESEARCH DATA BUT THINKING ABOUT HOW IS THE DATA WE COLLECT GOING TO BE CURATED AND STORED AND ACCESSED. HOW WE'LL DO SECURITY IS OFTEN NEGLECTED SO PEOPLE ARE SURPRISED WHEN THE PRICE TAG COMES BACK FOR MAINTAINING A GOOD QUALITY DATA SET. SO I THINK THAT'S IT. THANK YOU FOR YOUR TIME. >> THAT WAS A GREAT SETUP BECAUSE I'M GOING TO GIVE A USE CASE AND WE CAN DEFER ALL QUESTIONS TO HIM. I WAS GRATEFUL FOR THE INVITATION. THANK YOU FOR HAVING US. WE'RE AT THE "ALL OF US" PROGRAM AT THE NIH AND DEALING WITH A LARGE DATA SET AND I'LL TRY TO SPEED UP TO HELP YOU STAY ON TIME. OUR OVERARCHING MISSION FOR THIS PROGRAM IS TO ACCELERATE HEALTH RESEARCH AND MEDICAL BREAKTHROUGHS AND PREVENTION AND CARE FOR ALL OF US. OUR NAME IS TO ENROLL 1 MILLION OR MORE LIVING WITHIN THE UNITED STATES KEEP THEM ENGAGED IN THE PROGRAM, DEVELOP PARTNERSHIPS WITH THEM AND THEN ULTIMATELY ASK THEM TO SHARE INFORMATION AND DATA ABOUT THEMSELVES FOR THEIR LIFE TIME SO WE HAVE A REALLY GOOD PICTURE OF THE LIFE COURSE OF FOLKS. AND THEN ULTIMATELY IN THE MIDDLE TO DELIVER THE LARGEST BIOMEDICAL DATA SET EASIER MAKING IT EASY AND FREE TO USE AND WE USE THE WORD FREE CAREFULLY. SO CURRENTLY OUR PARTICIPANTS ARE GOING THROUGH A CORE PROTOCOL WE HAVE ESTABLISHED IN WHICH WE'RE COLLECTING A CORSET OF INFORMATION ON THEM. WE HAVE AROUND 194,000 OR SO PARTICIPANTS WHO CONSENTED TO THE STUDY AND AROUND 160,000 WHO COMPLETED THE WHOLE PROTOCOL AND GONE THROUGH THE STEPS ON THE SLIDE INCLUDING DONATE BIOSAMPLE. SO WE SEND EVERYONE THROUGH ELECTRONIC CONSENT. OUR PROTOCOL IS DIGITAL EXCEPT FOR AN IN-PERSON VISIT WHERE WE DO THE PHLEBOTOMY AND WE ASK THEM IF THEY'RE WILLING TO SHARE THEIR ELECTRONIC DATA AND THAT IS COLLECTED QUARTERLY AND WE HAVE A CONNECTION WITH THEIR HEALTH CARE PROVIDER AND ASK THEM TO FILL OUT SURVEYS. A LOT OF SELF-REPORT ON DEMOGRAPHICS, HISTORY, HEALTH CARE ACCESS AND UTILIZATION AND WE'LL CONTINUE ADDING SURVEYS OVER THE LIFE OF THE SURVEY TO KEEP PEOPLE ENGAGED. WE'RE WORK ON A SURVEY ON MENTAL HEALTH CURRENTLY. ONCE THE FOLKS HAVE GONE THROUGH THE SURVEYS WE ASK THEM TO GO TO ONE OF OUR OVER 300 LOCATIONS AND GO THROUGH BASELINE PHYSICAL MEASUREMENTS AND PROVIDE A BLOOD AND URINE SAMPLE. IN ADDITION TO THE SITES ACROSS THE COUNTRY WE MEAN ALL OF US. WE HAVE PARTNERSHIPS WITH WALGREENS AND THE NATIONAL BLOOD BANK COLLABORATIVE WE DON'T HAVE A PROGRAM IN THIS FUNDING SO IF YOU JOIN VEE JA THE ONLINE PLATFORM IN THE FUTURE THERE'LL BE AN OPPORTUNITY TO ESTABLISH A QUEST CLINICAL AND YOU -- CLINIC AND YOU CAN WALK IN AND GET THAT AND WE'RE TRYING TO GET TO ALL CORNERS OF THE COUNTRY. AS WE ARE BANKING THE SAMPLES -- LET ME TALK ABOUT E.H.R.s FIRST AND WE'LL GET BACK TO THE SAMPLES. WE'RE ASKING PARTICIPANTS TO SHARE ELECTRONIC HEALTH RECORDS. WE HAVE 80,000 ACTIVELY SHARING ELECTRONIC HEALTH RECORDS CURRENTLY AND IT'S STORED IN OUR CLOUD ENVIRONMENT AND WE HAVE VANDERBILT UNIVERSITY AND ANOTHER ORGANIZING OUR DATA RESEARCH SET AND THEY ARE ALSO BUILDING THE ENVIRONMENT WHERE RESEARCHERS WILL COME TO USE THE DATA TO TASK THEIR QUERIES. THIS IS A TRICKY TOPIC FOR US BECAUSE WE HAVE SOME DIRECT RELATIONSHIP OF RELATIONSHIPS WE FUNDED TO ENROLL PARTICIPANTS AND THEIR PATIENTS AND GETTING THE E.H.R. IS TRICKY BUT WE WORKED OUT AN AUTOMATIC TRANSMISSION. WHEN WE'RE TALKING ABOUT PARTICIPANTS WHO ENROLL IN PART OF THE COUNTRY AND WE DON'T HAVE A DIRECT RELATIONSHIP WITH OUR PROVIDER IT'S HARDER. WE HAVE TO FIGURE OUT RELATIONSHIPS WITH PROVIDERS OR H.I.E.s OR ANOTHER WAY INCLUDING EXAMPLES LIKE FOR SCIENCE I CAN GO INTO IF THERE'S MORE TIME TO CAPTURE THAT INFORMATION BECAUSE IT'S IMPORTANT REAL TIME INFORMATION WE WANT ON OUR PARTICIPANTS. ON THE SAMPLE SIDE WE'RE GOING TO BE DOING 1 MILLION WHOLE GENOME SEQUENCES AND WE'VE BEEN FUNDED BY CONGRESS. WE MADE THREE AWARDS TO CENTERS AND WE INTEND TO RETURN ACTIONABLE INFORMATION TO PARTICIPANTS AND WILL START WITH A PILOT OF RETURN OF RESULTS OF PARTICIPANTS AND DO SEQUENCING WITH RETURN AND PHARMACO GENETICS AND SEE HOW PARTICIPANTS RESPOND TO THAT. AND NOW I WANT TO MOVE TO WHERE THE DATA IS HELD AS THE LAST PART AND HOPEFULLY AS THE TIME FOR THE PANEL DISCUSSION. OUR RESEARCH HUB, WE HAVE TWO SIDES OF OUR RESEARCH HUB. A PUBLIC VERSION WHERE AGGREGATE DATA IS STORED AND SOME RESTRICTED RESTRICTED ACCESS OF OUR PORTAL. THE DATA BROWSER LARGED MAY OF. THAT WAS THE ONE-YEAR ANNIVERSARY WE LAUNCHED IN MAY 6, 2018 AND ON THE ONE-YEAR ANNIVERSARY WE OPENED UP THE PUBLIC DATA BROWSER. YOU CAN SEE DATA SNAPSHOTS THAT SOW YOU HOW WE'RE DOING IN TERMS OF ENROLLMENT AND GETTING TO THE OTHER HIGH LEVEL INFORMATION. IF YOU CLICK TO OUR DATA BROWSER YOU CAN PLAY WITH THE NUMBERS. YOU CAN START TO LOOK AT THE TOP CONDITIONS WE HAVE IN THE E.H.R.s FOR WHOM WE HAVE AND DRUG EXPOSURE, MEASUREMENTS, PROCEDURES AND GET INTO SURVEY QUESTIONS AND SEE HOW MANY PARTICIPANTS HAVE SMOKED MORE THAN 100 CIGARETTES ON AVERAGE AND HOW MANY HAVE A HISTORY OF SUBSTANCE ABUSE. THERE'S ALL SORTS OF QUESTIONS YOU CAN DIG INTO AND WE HAVE SOME LEVEL OF BREAKDOWN BUT THERE'S NO CROSS TABS TO PROTECT PARTICIPANTS PRIVACY. IT GIVES A SENSE OF THE DATA WE'RE PROTECTING AND WHAT TO THINK ABOUT AS USERS OR DATA USERS WILL THIS BE SET FOR THE QUERY I WANT TO RUN IN THE FUTURE. THAT'S THE RESEARCH "ALL OF US" AND YOU CAN GET ON AND PLAY WITH IT. IT'S A TON OF FUN. CURRENTLY PAIN IS OUR NUMBER ONE CONDITION. IT'S SURPRISING TO ME BUT MAYBE NOT TO OTHERS. ONCE WE OPEN UP THE INDIVIDUAL LEVEL DATA AND WE ARE VERY CAREFUL TO SAY WE HAVE THE CAPACITY AND EVERYTHING IS FUNCTIONING WELL BEFORE WE OPEN UP FOR RESEARCHERS TO USE INDIVIDUAL-LEVEL DATA. AS I MENTIONED AT THE BEGINNING WE ONLY HAVE E.H.R. DATA -- I SHUNT -- SHOULDN'T SAY ONLY, GENOMIC DATA WON'T COME UNTIL 2020 AND IF FITBIT DATA. WE HAVE A DIRECT CONNECTION THROUGH AN A.P.I. WITH FITBIT AND THEY CAN SHARE THEIR PHYSICAL ACTIVITY DATA WITH THEIR PROGRAM. IT WON'T BE AVAILABLE IN THE FIRST RELEASE BUT SUBSEQUENT RELEASE AND START TO LEARN HOW THAT'S USEFUL IN THE CONTEXT OF THE REST OF THE INFORMATION ABOUT OUR PARTICIPANTS SO INCORPORATING MORE DIGITAL HEALTH TECHNOLOGIES IS A PRIORITY OF OURS AS WELL. ONCE THE RESTRICTED ACCESS IS OPEN, ONCE THE RESEARCHER WORK BENCH IS OPEN IT WILL WORK SOMETHING LIKE THIS. THIS IS MY LAST SLIDE SO WE HAVE A LITTLE TIME FOR DISCUSSION. I WANT TO GIVE YOU A SENSE HOW THE DATA ACCESS WILL WORK. SO WE ARE MAKING OUR DATA AVAILABLE TO ALL TYPES OF USERS. WE'RE CLEAR ABOUT THAT IN OUR CONSENT AND A HIGH PRIORITY IS IT'S OPEN TO EVERYBODY. WE HAVE OVER 2400 PEOPLE IN OUR CONSORTIUM ACROSS THE COUNTRY FROM OVER 100 ORGANIZATIONS HELPING BUILD THE INFRASTRUCTURE AND THEY DON'T GET PRIORITY DATA ONCE IT'S OPEN IT WILL BE OPEN TO EVERYONE AND THE NOVEL SCIENCE WILL WAIT UNTIL THE RESOURCE IS OPEN. WE ARE EMPLOYING A CLOUD-BASED ANALYSIS PLATFORM AND ALL USERS HAVE TO COME TO THE DATA. IT'S NOT TAKEN TO INDIVIDUAL ENVIRONMENTS. IT ALLOWS US TO HAVE MORE CONTROL OVER THE DATA AND ALLOWS FOR RESEARCHERS TO COLLABORATE IN THE CLOUD ENVIRONMENT ON SIMILAR PROJECTS. THE ACCESS WILL BE TIERED. ONCE WE HAVE GENOMIC AND MORE RICH AND SENSITIVE DATA OR IMAGING DATA OVER TIME WE'LL ASK RESEARCHERS TO TELL US WHAT KIND OF DATA THEY NED -- NEED TO TELL US WHAT THEY NEED AND NOT THE WHOLE DATA SET. WE'RE NOT ASKING USERS TO TELL US WHAT THEY WANT TO DO WITH THE DATA UP FRONT. WE'RE AUTHORIZING THE PERSON AND NOT THE STUDY. IF YOU WANT TO GET ACCESS TO THE DATA SET YOU NEED TO PROVE WHO YOU ARE AND WE HAVE STRICT IDENTIFICATION VERIFICATION STEPS, GO THROUGH ETHICS TRAINING, SIGN A CODE OF CONDUCT AND ONCE YOU GET GRANTED A PASSWORD YOU WILL BE GRANTED AS MANY SPACES AS YOU'D LIKE. THERE'LL BE A COST I'M SURE AND ONCE WE GET GENOMIC DATA IN THERE WE'LL HAVE TO FIGURE OUT HOW MUCH IT COSTS AND WHO IS FUNDING THAT. YOU CAN OPEN UP AS MANY WORK SPACES AND YOU HAVE TO SAY WHAT YOU ARE USING THE DATA FOR AND IT WILL BE POST ON THE WEBSITE AND ANYONE IN THE PUBLIC CAN ASK US. WE HAVE A REVIEW ACCESS BOARD TO DO A REVIEW FOR ANYTHING THEY FEEL MAY BE STIGMATIZING TO A COMMUNITY. THIS IS OUR BIGGEST CONCERN IN TERMS OF SENSITIVITY. I MENTIONED THE PROJECT INFORMATION WILL BE MADE PUBLIC AND AUDITABLE AND WE'RE CURRENTLY DEVELOPING OUR POLICIES ON ACCESS AND PARTS PAINTS FOR ANYBODY WHO WANTS TO RECONTACT PARTICIPANTS AND ASK THEM TO DO A DEEPER DIVE INTO WHATEVER SUBCOHORT HAY WANT TO CREATE. -- THEY WANT TO CREATE. THAT'S DOWN THE ROAD. WHEN WE OPEN UP ACCESS TO RESEARCHERS THIS WINTER IT WILL BE FOR DATA ACCESS CURRENTLY. AND THAT'S IT. I RUSHED A LITTLE BIT. FIT WAS TOO FAST AND YOU HAVE -- IF IT WAS TOO FAST AND YOU HAVE CLA CLARIFYING QUESTIONS, I'M HAPPY TO TAKE THOSE NOW. >> ONE, HOW ARE YOU INCENTING TO COME IN. >> WE HAVE A $25 COMPENSATION FOR THE BLOOD DRAW. NOT A LOT PE -- WE HOPE THE INCENTIVE IS PARTICIPATION AND RETURN OF VALUE. AND WE HAVE COMPARATIVE INSIGHT WHERE YOU CAN SEE YOUR ANSWERS COMPARE TO THE COHORT AND WE'LL GIVE BACK GENETIC INFORMATION. THE INTENTION IS THE DATA WE COLLECT WE'LL GIVE BACK TO PARTICIPANTS IN ALMOST ALL CASES SO WHEN WE RUN CLINICAL AND ENVIRONMENTAL ASSAYS IT WILL GO BACK TO PARTICIPANTS. WE HOPE THAT BEING PART OF THE STUDY IN A DIFFERENT WAY OPPOSED TO US TAKING DATA ALL THE TIME THAT'S SOME LEVEL OF INCENTIVE AND LEARNING ABOUT THE VALUE PROPOSITION. WE HAVE NOT RETURNED ANYTHING SIGNIFICANT YET. SO THE RETURN OF GENETIC RESULTS WILL BE OUR BIG FORAY INTO THIS WORLD AND ARE HOPING TO LEARN IF THAT'S A VALUE TO PEOPLE. >> MEGAN O'BOYLE. WHEN YOU SAY ELECTRONIC MEDICAL RECORDS, DOES THAT INCLUDE SCAN OR JUST THINGS THAT WERE ELECTRONICALLY INPUT AT THE POINT OF CARE AND AVAILABLE? >> I DO. IT'S A SPECIFIC SET OF FIELD FROM THE E.H.R. AND PUT IN ELECTRONICALLY. WE DON'T HAVE A MECHANISM FOR ACCEPTING SCANNED RECORDS AND WILL HAVE MULTIPLE STRATEGIES FOR GETTING IN THE FULL HEALTH PICTURE PARTICIPANT. >> OLDER, MEANING MY AGE, PATIENTS THE MAJORITY OF THEIR MED RAL -- MEDICAL RECORDS WOULD BE MADE AVAILABLE AN IN TERPS OF CONSENTING, PERSONS WITH COGNITIVE ISSUES WITH DEMENTIA THEY SAID IT WOULD BE LIKE IN THE FOURTH RELEASE. I UNDERSTAND THE COMPLICATIONS OF IT. THEY ARE MAKING PROGRESS? >> WE'RE BEEFING UP PLANS FOR ENROLLING CHILDREN. OUR ELIGIBILITY IS YOU HAVE TO BE OVER 18 AND YOU CAN'T BE INCARCERATED BECAUSE YOU CAN'T ENROLL PEOPLE IN PRISON THOUGH WE'D LIKE TO. WE WANT TO KEEP GETTING RID OF THE CRITERIA UNTIL WE'RE OPEN TO ALL OF US AND HELPING TO FACILITATE THE OTHER ASPECTS OF THE PROGRAM. IT'S ALL ON THE ROAD MAP AND COMING. WE'RE TRYING TO DO IT IN PIECES. THANKS FOR THE QUESTION, MEGAN. MORE GENERAL QUESTIONS AS TO HOW YOU THINK DEFINING SUCCESS FOR WHAT YOU'RE DOING AND AS YOU THINK FOR NUMBER RELATED ORDER WHAT YOU ALLUDED TO DATA COLLECTION DRIVING A MORE INTERACTIVE EXCHANGE AS IN BUILDING COMMUNITY AND MAYBE THE REVERSE OF THAT QUESTION, LOOKING BACKWARDS AND THINKING ABOUT THE HISTORICAL REFERENCE FOR DATA COLLECTION, WHAT LESSONS HAVE YOU LEARNED FROM THE PAST DATA BREACHES AND DEFINITION OF WHAT IS MEANINGFUL DATA, DEFINITION OF WHAT IS ACTIONABLE DATA, HOW MUCH ARE YOU TRACKING THAT? BECAUSE A LOT OF WHAT YOU'RE HEADING INTO IS UNKNOWN TERRITORY AND ACKNOWLEDGING HISTORY HERE WOULD BE GREAT. >> I'M STRUGGLING TO REMEMBER THE FIRST PART OF YOUR QUESTION. FOR ME TO REMEMBER 15 SECONDS EARLIER WOULD BE SUCCESSFUL FOR ME IN A GIVEN DAY. I THINK SUCCESS IN MANY WAYS I THINK OF IT FROM THE PARTICIPANT INTERACTION. IF PEOPLE FEEL IT'S A PARTNERSHIP AND WE'RE NOT THERE YET. WE WANT TO GET TO WHERE OUR PARTICIPANTS FEEL THERE'S REAL GIVE BACK BUT I FEEL THAT IS SUCCESS. ULTIMATELY, I THINK OUR PARTICIPANTS ARE JOINING THE STUDY BECAUSE THEY WANT TO SEE HEALTH OUTCOMES CHANGE AND THEY WANT TO SEE US START TO ATTACK HEALTH DISPARITIES IN A DIFFERENT WAY. CURRENTLY OUR WE HAVE 80% PARENTS AND THEY HIT AT LEAST ONE CATEGORY OF UNDER REPRESENTED OF RESEARCH AND THAT'S ALREADY SUCCESS FOR ME AND STARTING TO LEARN ABOUT THE DISPARITIES THAT ARE PLAYING IN DIFFERENT COMMUNITIES IN OUR COUNTRY AND TURNING THOSE INTO PREVENTION STRATEGIES OR TAKING THEM INTO FURTHER DOWN THE PIPELINE OF TRANSLATIONAL SCIENCE, TO ME THAT'S A BIG PART OF SUCCESS. IF WE DON'T HAVE A MAJOR SECURITY BREACH, IF WE DON'T HAVE MAJOR PRIVACY ISSUES, THOSE SORTS OF THINGS. IN TERMS OF WHAT WE LEARN FROM THE PAST, WE DO OUR BEST TO KEEP COMMUNICATING. I HELP RUN A COMMITTEE THAT INCLUDES A NUMBER FROM EACH OF THE INSTITUTES, QUINCE IS A MEMBER FROM THE NIS. WE HAVE CONVERSATIONS WITH THE NIH ALL THE TIME. WE'RE PART OF THIS BIG CONSORTIUM OF PEOPLE THINKING ABOUT COHORTS FROM THE INTERNATIONAL PERSPECTIVE AND A CONGLOMERATE OF CONSORTIUM AND PEOPLE WHO HAVE DONE BIG PROJECTS BEFORE. WE HAVE A LOT OF THAT INSTITUTIONAL KNOWLEDGE IN OUR CONSORTIUM EVEN AND WE SPEND A LOT OF TIME TALKING TO PEOPLE. SO I DON'T THINK WE NEGLECT THE HISTORY. WE THINK WITH THE NATIONAL CHILDREN'S STUDY AND WE DO A LOT OF THAT SELF-REFLECTION. >> THANK YOU FOR BOTH YOUR PRESENTATIONS. I WANTED TO ASK WHAT THE PLAN IS FOR ADJUDICATING THE DIAGNOSES THAT END UP IN THE "ALL OF US" PROGRAM. IN MY FIELD WE HAVE A WIDE SWATH OF PEOPLE WHO HAVE EPILEPSY BUT IT'S DIFFICULT TO SOMETIMES PARSE OUT FROM OTHER TYPES OF DISORDERS. I'M SURE THAT'S TRUE OF OTHER DISEASES AS WELL. THERE ISN'T A LAC TEST TO TELL YOU DEFINITIVELY THIS PERSON HAS THE DIAGNOSIS THAT'S SELF-REPORTED. >> WE'VE TALKED ABOUT THIS SPECIFIC ISSUE A LOT INCLUDING FOR ACROSS ALL HEALTH CONDITIONS HOW WE'LL BE SURE WHAT IS IN THE E.H.R. IS ACCURATE AND NOT JUST A CODE FOR BILLING. >> SO I DON'T HAVE A VERY DEFINITIVE ANSWER FOR YOU. OUR PLAN IS TO DO THIS IN DIFFERENT STRATEGIES. THERE'S CLEARLY DEFINED PHENOTYPES TAKING ADVANTAGE FROM OTHER COHORTS. I THINK WE'LL HAVE TO DO A LOT OF THIS ON OUR OWN ON THE BACK END AND WE'LL HAVE MORE PARTICIPANTS AND WON'T DO INDIVIDUAL-LEVEL VALIDATION ON EVERY PARTICIPANT AND WE'LL HAVE TO LEARN HOW TO BUILD THE COLLABORATION HOPEFULLY WITH THE I.C.s HERE AT NIH. >> FOR THE UNDIAGNOSED DISEASES PROGRAM IT TURNS OUT IT'S DIFFICULT. WE HAVE A COMPLICATED TOOL FOR DETERMINES WHETHER A THAT'S PRESENT OR NOT AND IS IT GENETIC OR MADE ACCORDING TO SYMPTOMS. IT'S TOUGH FOR EVEN AN INDIVIDUAL PROVIDER SOMETIMES TO GIVE ALL OF THE INFORMATION IN A CODABLE FASHION THAT ALLOWS YOU TO PUT A CLEAN NUMBER ON HOW CONFIDENT ARE YOU ABOUT THIS DIAGNOSIS. I SUSPECT FOR A DATA SET THAT LARGE YOU'LL HAVE TO LOOK FOR CORRELATION BETWEEN THAT DIAGNOSIS AND OTHER EVENTS AND HAVE SOME SORT OF EPILEPSY AND IF IT'S ONE EPISODE OF SEIZURES AND THERE'S NO FOLLOW-UP MAYBE YOU'RE LESS CONFIDENT ABOUT THAT PARTICULAR DISORDER. IT'S AN INTERESTING PROBLEM BUT I SUSPECT THERE'LL HAVE TO BE DATA ANALYSIS APPROACHES RATHER THAN RELYING ON THE VERACITY OF THE RECORD WHICH WE KNOW IS IMPERFECT. >> WE'RE WORKING ON A NUMBER OF APPROACHES BUT ONE IS COMPUTABLE PHENOTYPES TO USE NATURAL LANGUAGE PROCESSING FROM RECORDS TO GET TO A LIKELIHOOD OF A PARTICULAR DIAGNOSIS. THIS MAY BE AN AREA WHERE DISEASE ORGANIZATIONS CAN HELP YOU PLAN FOR THAT STRATEGY IN THOSE DIFFERENT DISEASES. >> I LOVE THAT IDEA. ALL THE HELP WE CAN GET. >> WONDERFUL, THANK YOU FOR RAISING THAT. GREAT. >> NOW WE HAVE A PANEL DISCUSSION. OR MODERATOR IS -- OUR MODERATOR IS PAUL GROSS. HE'S AN ADJUNCT ASSOCIATE PROFESSOR OF POPULATION HEALTH SCIENCES AT THE UNIVERSITY OF UTAH. HE IS ALSO A DRIVING FORCE IN PROMOTING NEUROSCIENCE RESEARCH FOR CEREBRAL PALSY AND HYDRO SEF CEPHAL IS AND CO-FOUNDER OF THE HIGH -- HYDROCEPHALIS AND ADVANCING SCIENCE THROUGH COLLABORATION. JOIN ME IN WELCOMING DR. GROSS AND PANEL HE WILL INTRODUCE. >> THANK YOU, I NOW KNOW I NEED TO SHORTEN THAT MY MOTHER'S PROBABLY WATCHING AND LOVE IT AND I WAS CALLED A DOCTOR BUT I'M NOT A DOCTOR, THANK YOU. WHY DON'T WE HAVE OUR PANELISTS COME UP AND I'LL TAKE YOU THROUGH QUICK INTRODUCTIONS AND I WAS DIRECTOR OF THE CENTER FOR RARE NEUROLOGICAL DISEASES. THE CENTER AIMS TO REDUCE OR PREVENT RARE NERVOUS SYSTEM DISORDERS TO DESIGN AND IMPLEMENT CLINICAL TRIALS. IT'S THE PRINCIPLE INVESTIGATOR ON SEVERAL NIH STUDIES ON NEUROPATHIES AND A GENE TRIAL FOR MANY TREATMENTS. AND WE HAVE A SENIOR UNIVERSITY FOR PARTNERSHIPS AT THE NATIONAL INSTITUTE OF AGING AND OVERSEEN RESEARCH PORTFOLIOS OF PROGRAMS FOR ALZHEIMER'S DISEASE. SHE CURRENTLY LEADS THE INSTITUTE'S BIOMARKER DISCOVERY PROGRAM FOR ALZHEIMER'S DISEASE. DR. JANE MARKENDALE FROM THE FREDERICK'S ATAXIA RESEARCH ALLIANCE AND EXECUTIVE DIRECTOR ON DUCHESNE'S AND DR. TODD CHAIR IS THE OFFICER AT THE MICHAEL J. FOX PARKINSON'S RESEARCH AND HE HAS PLAYED A MAJOR ROLE IN INCREASING THE PARTICIPATION IN CLINICAL RESEARCH. I'M EXCITED TO BE SEATED AND MODERATING THIS GROUP OF SPEAKERS. YOU JUST GOT GREAT DEFINITIONS OF BIG DATA AND WHAT WE INTEND TO DO IS DIVE IN A BIT AND TALK ABOUT AND HOW BIG DATA IS BEING USED IN SPECIFIC EXAMPLES. WHAT ARE SOME PROJECT HAVE GONE ON AND WHAT ARE SOME OF THE DIFFICULTIES WITH IT. AND WE'LL DO A FIVE TO SEVEN-MINUTE PRESENTATION AND THERE'S BREAKUPS THIS AFTERNOON THAT RUN IN SESSION SO YOU CAN GO TO BREAKOUTS ABOUT CELL THERAPY AND GENE EDITING AS WELL AS BREAKOUTS ABOUT THIS TOPIC AS WELL. WE'LL HAVE MORE TIME FOR DEEPER DIVE IN Q&A. MOST OUR PANELISTS ARE ABLE TO STAY FOR THAT. I WILL TALK ABOUT MY EXPERIENCE AND I KNEW THIS BEFORE THE PRESENTATION ON BIG DATA. THIS IS DATA WITH HOPES OF IT BECOMING BIG DATA OVER TIME AND SOMETIMES BIG DATA IS UNSTRUCTURED DATA. SO THIS IS MY EXPERIENCE WITH LARGE-SCALE STRUCTURED DATA. AND THERE'S A SURGICAL REGISTRY WITH CHARACTERISTICS, 400 DISCREET FIELD WE LOOK AT FOR A SHUNT PLACEMENT OR ANOTHER WAY TO COLLECT AND DO CHART ABSTRACTION OR FILL IN FORMS IN FRONT OF NEUROSURGEONS IN FRONT OF THEM AND WITH THREE CENTERS STARTING AND IT'S NOW ABOUT 14 AND USES THE REGISTRY TO DO COHORT PLANNING AND USE PRELIMINARY DATA AND WE JUST GOT A LARGE NIH GRANT TO LOOK AT THE EFFECTIVENESS OF TWO INTERVENTIONS. HYPOTHESIS GENERATION AND LOOKING AT PRACTICE VARIATION AND USING THAT TO DO QUALITY IMPROVEMENT AND THE REGISTRY HAS NON-PIER -- NON-PEERED REVIEWED SETS AND WE LOOKED AT HOW MANY PATIENTS AND PROCEDURES THERE HAVE BEEN. NOW THEY'RE LOOKING TO DO MACHINE LEARNING TO PREDICT FIRST SHUNT FAIL. SHUNTS FAIL AT A HIGH RATE. AND DIFFERENT THE KINDS OF STATISTICAL ANALYSIS THEY'LL DO, THEY CAN RUN MILLIONS OF POSSIBLE VARIABLE COMBINATIONS TO SEE IF THEY CAN DEVELOP A MORE EFFECTIVE, MORE ACCURATE PREDICTIVE MODEL FOR SHUNT FAILURE. THAT'S AN EXAMPLE OF WHERE YOU BUILD A STRUCTURE DATA YOU CAN DO SOMETHING LIKE MACHINE LEARNING. THE CEREBRAL PALSY RESEARCH NETWORK REGISTRY. IT WAS FOUNDED FOUR YEARS AGO AND LIKE HCRN HAS A PATIENT REGISTRY AT THE CORE AND LOOKS AT CHARACTERISTICS AND OUTCOMES. IT'S DIFFERENT FROM EACH CRN IN THAT IT DOESN'T DO CHART AC DISTRACTION. WE HAVE STRUCTURED FORMS PUSHED KNEE E.H.R. -- INTO THE E.H.R. WHERE THE PHYSICIAN INTERACT THE FORM AND THE DATA IS USED TO GENERATE THEIR NOTES. WE'RE NOT JUST TURNING THEM INTO A CLINICAL RESEARCH SYSTEM AND WE'RE ABLE TO EXTRACT THAT DATA TO THE WAY WE WANT IT. THE REGISTRY WAS STARTED IN 2016 WITH SIX CENTER. IT'S NOW 24 CENTERS. WE EXPECT IT TO BE 34 BEFORE THE END OF THE YEAR. THE REGISTRY HAS SIMILAR PLANNED USES TO HCRN THOUGH I HAVE HOPES MUCH IT BEING BIG DATA AS WE MOVE THE E.M.R. DATA FROM THE PATIENT VISITS AN CHARACTERISTICS. WE COLLECT UP TO 900 FIELDS. IT'S NOT ALL REQUIRED DATA BUT WE'LL HAVE TRIALS THAT MIMIC TO LOOK AT WHAT PATIENT S WELLS CHARACTERISTICS AND INTERVENTIONS RESULT IN OUTCOMES. >> I'LL PRESENT FROM THE ACADEMIC PERSPECTIVE FROM HARVARD AND RARE AND NEURLODGE LOGICAL DISEASES. MY NEUROLOGICAL DISEASES. MY LAST TALK WAS ENTITLED YOU DON'T NEED BIG DATA SO I MAY BE ON THE WRONG PANEL BUT I THOUGHT I'D ADD TO THE DISCUSSION AND CLEARLY THERE'S DIFFERENT PERSPECTIVES ON WHAT KIND OF DATA SHOULD BE COLLECTED. AT MASS GENERAL I LOOKED AT RARE NEUROLOGICAL DISEASES TO BRING STAKEHOLDERS TOGETHER THAT CAN ACCELERATE TREATMENT DEVELOPMENT AND TRIALS FOR PATIENTS WITH RARE NEUROLOGICAL DISEASES. THE SPACE REALLY IS VERY RICH IN THE PROXIMITY OF PHARMA AND THE BIOLOGICAL INSTITUTE THAT RUNS MANY TRIALS AS WELL AS THE BROAD. WE SAW THERE WAS A NICHE HERE THAT NEEDED TO TIE TOGETHER THE DATA SETS THAT WERE NEEDED TO ACCELERATE TREATMENT AND TRIALS FOR PATIENTS. AND WE LOOK AT DATA WHETHER IT'S BIG OR SMALL IN TERMS OF THE LANDSCAPE OVERALL AND WHETHER IT'S ADDRESSING GAPS IN THE PIPELINE FROM BENCH TO BEDSIDE. THERE MAY BE DISORDERS WHERE HAVE YOU MODELS AVAILABLE OR A COMPOUND AVAILABLE BUT YOU DON'T HAVE NATURAL HISTORY DATA. THERE'S A MISSING BIOMARKER AND ANOTHER DISORDER. THERE MAY BE AN EXISTING ANIMAL MODEL AND AN ASSAY BUT THERE'S NOBODY WHO CAN MANUFACTURE THE DRUG YOU DEVELOPED AND IT NEEDS TO BE DRIVEN BY WHAT IS MEANINGFUL TO PATIENT. I'LL GIVE EXAMPLES WITH THE KINDS OF THINGS WE'VE DONE AROUND THE SINGLE GENE DISORDERS AND FINDING THE MEASURES TO ACCELERATE THE PATH FORWARD. WE DISCOVERED THE GENE FOR HEREDITA HEREDITARY NEUROPATHY AND IT LOST THE AFFINITY TO THE CANONICAL SUBSTRATE AND PRODUCED A TOXIC LIPID. AND REALLY A SINGLE GENE DISORDERS CAN HAVE A SPECIFIC EFFECT AND ALLOW YOU TO ACCELERATE AND LEVERAGE THAT TO MOVE FORWARD QUICKLY. WE FOUND OUT IF WE SUPPLEMENTED IT IN MOUSE AND HUMAN, WE COULD REDUCE THE LIPIDS AND IT LED TO RANDOMIZED DOUBLE-BLINDED CONTROL TRIAL WHERE WE CAN SHOW USING THE NEUROPATHY SCORE OVER A TWO-YEAR PERIOD WE COULD IMPROV THE -- IMPROVE THE PATIENTS IN THE TRIAL AND ANOTHER EXAMPLE OF A GENE THERAPY TRIAL WHERE WE'RE ABLE TO ACCELERATE QUICKLY IS AROUND ADRENAL CEREBRAL DYSTROPHY AND BOYS HAVE BEEN KNOWN TO DIE FROM THIS DISORDER CINCINNATI -- SINCE THE EARLY 1900s AND FROM WHAT UNDERSTANDING WHAT BONE MARROW WAS DOING AND WE TOOK A SIMILAR APPROACH WORKING WITH TRANSPLANTERS AND GENE THERAPY EXPERTS IN BOSTON AND WE GAVE THESE CELLS BACK TO THEM AFTER BRIEF AMOUNT OF MYELABLATION AND MOST THE BOYS HAVE BEEN VERY STABLE AND IMPORTANTLY THIS WAS IDENTICAL TO WHAT HAD BEEN DONE FOR 20 YEARS WITH BONE MARROW TRANSPLANTATION. WE TOOK THE DATA SETS AS THE DEPARTING POINTS AND NOW WHAT MY CLINIC HAS TRANSFORMED FROM 10, 20 YEARS AGO WHERE MOST BOYS CAME IN IN WHEELCHAIRS AND NOW THEY'RE CELEBRATING A BIRTHDAY TOGETHER. AND CROSSING OUT A.L.D. AND REPLACING IT WITH THEIR INITIALS, A.O.L. AND THIS HELPS ACCELERATE DATA ALONG THE WAY. WHAT ARE THE POTENTIAL OF BIG DATA AND RARE DISEASES AND THE UTILITY CLEARLY YOU WANT BIG DATA IN ORDER TO INFORM REPLICATION TO KNOW YOUR FINDINGS ARE ROBUST AND RIGOROUS. DEEP PHENOTYPES HAS BEEN MENTIONED IN TERMS OF CONTINUOUS DEVICES. CAN YOU GET RELATIVE OUTCOMES FOR RARE DISEASES. THIS IS A TERRIFIC WAY TO DID THAT AND SOCIAL MEDIA IS WHERE THERE CAN BE BIG DATA IN COMMON DISEASES. IT BEHOOVES US TO THINK ABOUT PITFALLS OF BIG DATA AND ULTIMATELY WHAT WE'RE LOOKING FOR IS MEANINGFUL DATA. IT'S NOT SO MUCH BIG DATA. A MEASURABLE DIFFERENCE IS NOT A MEANINGFUL DIFFERENCE AND WE NEED TO LOOK AT DATA IN THE CONTEXT OF WHO IT IS AFFECTING AND WHO IS THE DATA COMING FROM. MOTIVATION AND CONTEXT OF DATA COLLECTION IS USEFUL AND DATA CAN DILUTE AND OBSCURE EFFECT AND I WOULD MAKE A PITCH NOR RARE DISEASE SCENARIO WHERE YOU HAVE WELL DEFINED DISEASE ON A MOLECULAR LEVEL AND YOU CAN LEVERAGE THAT AND OFTEN BIG DATA FOR HETEROGENEITY LOOK DEFINITION AND IN RARE DISEASES IT'S MOLECULARLY WELL DEFINE AND CAN HELP A LOT AND BIG DATA CAN HELP ADDRESS IMPORTANT QUESTIONS SO IN MY MIND IT'S LESS USEFUL IN GENERATING THESE QUESTIONS. COMING BACK TO THE POINT WE SHOULD CONTINUE TO BE COMING BACK TO THE HARDER QUESTION WHICH WHAT IS MEANINGFUL AND BE ADDRESSING DATA FROM THAT POIF. -- POINT OF VIEW. I HOPE THAT OKAY. THANK YOU. IS >> GOOD MORNING AND THANK YOU FOR THE INVITATION TO PARTICIPATE IN THE PANEL. SO IN THE NEXT FEW MINUTES I'LL SHARE HOW WE ARE NOT ONLY GENERATING BIG DATA BUT HARNESSING THE POWER OF BIG DATA AND SMALL DATA AND OUTILIZING OPEN SCIENCE FOR BI-DIRECTIONAL TRANSLATION AND DISCOVERY RESEARCH. THE NATIONAL INSTITUTE OF AGING AND NEUROSCIENCE IN PARTICULAR, WE HAVE A FAIRLY ROBUST TRANSLATIONAL RESEARCH PROGRAM WITH A PIPELINE OF FUNDING OPPORTUNITIES WE TRIED TO SEAMLESSLY CONNECT THE SPACE BETWEEN TARGET DISCOVERY AND UNDERSTANDING TO MATCH THE CLINICAL TRIAL DEVELOPMENT. IN THE PAST SIX TO SEVEN YEARS, WE HAVE BEEN DILIGENTLY DEVELOPING AND ENABLING TRANSLATIONAL INFRASTRUCTURE ACROSS THIS SPACE FROM THE TARGET DISCOVERY SPACE TO THE TRIALS. HELD THE COMMUNITY OF ACADEMIC RESEARCHERS AND RESEARCHERS IN INDUSTRY TO REALLY BE ABLE TO HARNESS THE POWER OF BIG DATA AND ENABLE PREDICTIVE DRUG DEVELOPMENT. ULTIMATELY WE'D LIKE TO BE DEVELOPING TRENDS AND WANT TO KNOW WHICH PATIENT TO GIVE IT TO AT WHAT CHANGE OF THE DISEASE. WE HAVE A SERIES OF PROGRAMS AND WE HAVE EMBEDDED OPEN SCIENCE AND OPEN SOURCE PRINCIPLES INTENTIONALLY BECAUSE BECAUSE BIG DATA POSES A CHALLENGE AND IT REQUIRES A TRANSPARENT REPORTING AND ACCESS TO DATA AT ALL STAGES OF THEIR LIFE CYCLE FROM RAW TO PROCESS TO ANALYTICAL OUTPUTS AND RESULTS. I WILL HIGHLIGHT ONE OF THESE PROGRAMS TODAY AND THIS IS THE PROGRAM THAT I OVERSEE AND IT IS IN THE TARGET DISCOVERY. SPACE. THE PARTNERSHIP FOR ALZHEIMER'S DISEASE IS ONE OF THE FOUR PROGRAMS. THERE'S ONE IN PARKINSON'S DISEASE AND THE TARGET DISCOVERY PROGRAM IS TRYING TO REALLY HAR NES THE POWER OF BIG DATA. BIG DATA IN BRAIN AND PLASMA SAMPLES THAT COME FROM WELL PHENOTYPED COHORTS OR RESEARCH BRAIN BANKS AND THROUGH A WHOLE ARRAY OF PREDICTIVE MODELING COMPUTATIONAL APPROACHES TO DERIVE MORE CONTEXTUAL TO DEVELOP PATHWAYS AND TAKE THEM INTO CELL-BASED AND ANIMAL MODELS INTEGRATED ACROSS BIG AND SMALL DATA. SO WE SUPPORT THROUGH THE PROGRAM SIX CROSS-INTERDISCIPLINARY TEAMS AND ESSENTIAL IS THE STRUCTURE TO SHARE THE DATA WITHIN THE RESEARCH COMMUNITY. WE HAVE INDUSTRY PARTNERS PARTICIPATING IN NON-PROFIT ORGANIZATIONS AND THIS IS A TASK THAT CANNOT BE EXECUTED BY ANY STAKEHOLDER ALONE. SO A CRITICAL RESOURCE THAT IS ENABLING THIS WORK FLOW IS THE KNOWLEDGE PORTAL DEVELOPED BY THE NETWORKS NON-PROFIT ORGANIZATION. NOW, A POINT I WANT TO MAKE IS WE HAVE INDUSTRY PARTNERS NOT SUCH AS GOVERNANCE AND CO-FUNDING PARTNERS BUT THEY PARTICIPATE IN THE NUMBER OF ANALYTICAL WORKING GROUPS THAT WORK ACROSS TEAMS. SO THE TEAMS WORK INDIVIDUALLY AND DELIVER MODELS AND DATA AND OUTCOMES BUT WE ALSO WORK ACROSS THEMES BECAUSE IT'S EXTREMELY CHALLENGING TO WORK WITH THE DATA AND NONE OF THE METHODS EVEN Q.C. IS NOT AN ESTABLISHED WAY TO SAY JUST USE THIS. SO WE'RE TRYING TO GENERATE COLLECTIVELY ADDITIONAL DATA ASSETS AND PRESSURE TEST THE ANALYTICAL OUTPUTS FROM EACH TEAM AND PROVIDE THESE TO THE COMMUNITY WHETHER IT IS AS WORK FLOWS OR NEWLY REPROCESSED AND HARMONIZED DATA SETS. IT'S BUILT ON AN INFORMATICS IRB IRB-APPROVED SPACE TO BE ACCESSED AS NEEDED FOR THE IRB DIRECTION AND BY FUNDING THE INVESTIGATORS ARE EXPECTED TO SHARE THE DATA AND THROUGH THIS MODEL, WE HAVE NOT OME ENABLED THE COMMUNITY OF INVESTIGATORS TO LEARN FASTER BUT THE COMMUNITY AT LARGE. THE DATA THE USER BASE OF THE KNOWLEDGE PORTAL DATA ASSET IS GROWING ON A MONTHLY BASIS. THIS IS AN OUTDATED SLIDE BUT THE USERS COME FROM ACADEMIA AND BIOTECH AND ONCE IT WITH US DEVELOPED FOR THE PROGRAM NOW WE USE IT AT THE DATA SHARING HUB FOR A WHOLE ARRAY OF OTHER BIG DATA PROGRAMS AT N.I.A. AND IT'S AN NIH REPOSITORY ENABLING THE SYSTEMS BIOLOGY SPACE AND A BASIC RESEARCHER, THERE'S SOMETHING FOR YOU IN THE PORTAL. AND WE DON'T JUST HAVE SAMPLES FROM THE A.D. SPACE THERE'S SAMPLES FROM RELATED DEMENTIA AND YOU CAN ASK MANY QUESTIONS AROUND BRAIN AGING AND NEURODEGENERATION FROM THE DATA IN THE PORTAL. NOW, I MENTIONED THESE ARE DATA-GENERATED SAMPLES ON THE COHORTS AND HALF THE DATA SETS COME FROM HALF THE BRAIN SAMPLES COME FROM TWO VERY WELL PHENOTYPED AGING COHORT. THE MEMORY STUDY PROJECT AND WE REALIZED ONCE WE ENABLED THE RELEASE OF THE MOLECULAR DATA THE RESEARCHERS WHO HAVE BEEN WILLING AND SHARING THEY'RE PHENOTYPIC DATA COLLECTED OVER 20-PLUS YEARS, THAT DATA IS THE GOLD THAT IS BASICALLY POINTING TO WHAT QUESTIONS SHOULD WE ASK FROM BIG DATA. BIG DATA AND WE CREATE THE RESOURCE HUB AT THE RESEARCH CENTER WHERE ALL THE WEALTH OF THE PHENOTYPIC DATA COLLECTED ON THE PARTICIPANTS THAT CONTINUE TO BE RECRUITED IS NOW EASILY MINE AND EXPOSED AND RETRIEVED AND COMBINED WITH THE MOLECULAR DATA THAT RESIDES IN THE KNOWLEDGE PORTAL. SO THERE'S A WHOLE UNIVERSE OF QUESTIONS AND PERHAPS YOU WANT TO STUDY JUST FOUR INDIVIDUALS WHO ARE FEMALE AND FOR WHICH THERE IS CERTAIN KINDS OF NEUROPATHOLOGY AVAILABLE AND WHO'S MOLECULAR DATA YOU WANT TO USE. YOU CAN DESIGN THE STUDIES BY TACKLING BETWEEN THE TWO RESOURCES. SPEAKING OF PROBLEMS, ONCE WE CONTINUE NOW TO PUSH OUT THIS VERY RICH DATA SET AND ANALYSIS OF CODE THEY'RE NOT EASY TO BE TAKEN UP BY BIOLOGISTS OR BY LAB. WE DON'T HAVE THE COMPUTATIONAL EXPERTISE ON THEIR GROUND. SO WE WANTED TO MAKE SURE THAT WE CAN EQUALLY RAPIDLY SHARE THE RESULTS OF FROM THE COMMUNITY OF RESULTS OF TARGET PRECISION AND WE CREATED A INTEGRATED PLATFORM WHERE WE CAN SEARCH AND PROJECT THE TARGET NOMINATIONS AND THE RATIONALE FOR NOMINATION AND THE ANALYSIS AND THE PRIMARY DATA THAT IS THE BASIS TO ARRIVE AT THAT TARGET PREDICTION. THERE'S ALSO DRUG ABILITY INFORMATION THIS IS NOW AN OPEN SPACE WHERE WE'LL CONTINUE TO ADD ON THE BACK END A CURATED ANALYSIS AND WHAT OTHERS HAVE DELIVERED BUT SEARCH FOR HOW YOUR FAVORITE GENES. THIS IS ONE OF THE NOMINATED TARGETS AND YOU CAN SEE THE DETAILS AND YOU CAN GO DEEPER IN THE DERIVATION OF THE TEAM AND SEE HOW MANY TEAMS NOMINATED IT AND WHY. IT GIVES A MORE DIMENSIONAL LINE OF SIGHT TO LOOK LOOK AT THE GENES THAT GO WITH THESE GENES AND IT'S PERHAPS NOT TRAFFICABLE BUT AN ADJACENT NEED IS MAYBE A MORE EASILY TARGETABLE TARGET AND WE WORKED WITH COLLEAGUES ON ENHANCING THE DRUG ABILITY FEATURES AND CONTINUED TO BRING MORE DIMENSIONALITY AND MAKE IT AVAILABLE FOR CLINICAL RESEARCHERS. I THINK I'LL END HERE AND QUESTIONS AT THE END. THANK YOU. >> I WAS ASKED TO TALK AND FOR FULL DISCLOSURE I WORK FOR BOTH PROJECTS. IT IS NOT BIG DATA. I KNOW YOU GET BIG DATA AND TRULY RARE DISEASES BUT IT'S SOMEWHAT BIG DATA IN THE CONTEXT DISCUSSED EARLIER. I'LL TELL YOU ABOUT THE PROJECT IT'S FAIRLY EARL DAYS BUT BUILT ON A WHOLE LOT OF DATA COLLECTION OVER MANY YEARS FRIED FRIEDRECH'S DISEASE IS A PROJECT WE BUILT THE COLLABORATION WHICH IS THE GENESIS OF THE PROJECT. THE PROJECT IS CALLED THE ATAXIA AND WHAT'S DIFFERENT FROM WHAT OTHER PEOPLE DO THE WHOLE DATABASE IS AVAILABLE FOR ALL QUALIFIED RESEARCHERS. IF WANT TO ASK FOR ACCESS WE'LL USUALLY GIVE YOU ACCESS. WE HAVE OVER 1,200 PATIENTS IN THE DATABASE WHICH IS REALLY BIG FOR A DISEASE THE SIZE OF FRIED -- FRIEDREICH'S AND IT'S AN INTEGRATION DATABASE SO IT HAS MULTIPLE SOURCES AND IT'S OPENLY AVAILABLE. THE CRITICAL PATH BUILT 15 CONSORTIUM I LAUNCHED A DEW DUCHENE'S PROJECT AND THERE'S MORE DATA AND MORE VARIABILITY. THIS IS ALL OF OUR DATABASE LOOKS LIKE AND YOU TAKE IT FROM CLINICAL TRIALS AND SOMETIMES PATIENT REGISTRIES AND WE USE DATA STANDARDS. THIS IS A FORM OF RELATION SHAN DATABASE THAT ALLOWS YOU TO STORE WITH THE PIECE OF DATA YOU'RE LOOKING AT. FOR EXAMPLE, IF YOU'RE LOOKING AT THE WALK TEST WITHOUT ORTHOTICS AND I PROBABLY SHOULDN'T COMBINE ONE WHEN THEY USE THEM AND NOT BECAUSE THEY'RE NOT THE SAME THING. AND WE USE IT DUCHENNE PROJECT. AND THERE WAS COULD COME CLOSE. IT LEAD TO SOME PROBLEMS. BECAUSE THERE WAS A STANDARD ALREADY THERE WE COULD DO IT. WE LOVE DATA BOUGHT WHAT REGOING TO DO WITH IT? WE WANT TO BUILD TOOLS TO ACCELERATE DRUG DEVELOPMENT. BUILDING A DATABASE IS WELL AND GREAT FOR COMPANIES TO USE THE DATA BUT WHAT THEY WANT TO USE THE DATA FOR IS TO DEVELOP CLINICAL TRIALS OR OTHER TOOLS TO ACCELERATE DEVELOPMENT AND OUR OUR FRIEDREICH'S DATABASE WE LAUNCHED RECENTLY AND WE DIDN'T HAVE TOOLS YET. THE TALK WAS ASPIRATIONAL BASED ON OTHER WORK OF WHAT WE MAY BE ABLE TO DO WITH THE DATABASE OVER TIME. WHAT DO WE NEED TO BUILD A DATABASE. WE NOW HAVE A DATABASE IN DUCHENNE AND FRIEDREICH'S. FIRST THING WE NEED IS DATA. THE FIRST BIG QUESTION IS DOES IT EVEN EXIST OUT THERE. IN THE CASE OF FRIEDREICH'S BECAUSE OF THE NATURAL HISTORY STUDY WE HAD A GOOD DATABASE. WILLINGNESS TO SHARE. NOT EVERYONE WANTS TO SHARE. PATIENT-LEVEL DATA IS SCARY. PEOPLE THINK I COLLECTED IT AND I WANT TO ANALYZE IT, WHY SHOULD YOU BE ALLOWED TO ANALYZE MY DATA. THESE ARE ALL QUESTIONS WE WORKED THROUGH AND FIGURED OUT HOW TO GET AROUND AND HOW TO RESOLVE SO WE'RE COMFORTABLE SHARING DATA. THERE'S CONSENT ISSUES AND ANONYMIZED DATA. AND YOU USED MULTIPLE SOURCES FROM FRIEDREICH'S AND YOU PEOPLE GOOD AT THE FORMAT OR AND YOU NED HOSTING SERVICE -- NEED HOSTING SERVICES. THE EARLIER SPEAKER HAS A LIST OF ALL THE NEW TOOLS AND WE USE SOME BUT YOU NEED DATA SECURITY AND STORAGE BACKUP AND UNDERSTANDING OF INTERNATIONAL DATA SHARING AND SUPPORT FOR USE TO GET THE DATA OUT OF THE OTHER BRAND. THE OTHER ONE SHOULD NOT BE UNDERESTIMATED. WE HAVE SIX OR SEVEN COMPANIES TRYING TO ACCESS OUR DATA AND EVERY ONE HAS E-MAILED ME WITH QUESTIONS. MOST I HEADED ON TO MY MANAGER SAYING CAN YOU HELP THIS PERSON? AND PLANS FOR HOW TO SHARE AND MAKE SURE EVERYBODY IN THE COMMUNITY IS COMFORTABLE AND ABLE TO USE THE DATA. I PUT UP A NUMBER OF LOGOS BECAUSE IT WAS A TRUE COLLABORATIVE PROJECT. WE KNEW WHAT THE DATA WAS AND WHO THE PEOPLE WERE AND MAKE THEM COMFORTABLE WITH SHARING AND WE HAVE A DEEP GOOD AT MANAGING -- HAVE A GOOD TEAM GOOD AT MANAGING DATA. SO WHAT ARE WE GOING TO DO WITH THE DATA? AS THE A MOCK-UP. I STOLE IT FROM A TEAM AND I PUT ON SOME FRIEDREICH'S RELATED THINGS YOU MIGHT LOOK AT. IN THE CASE OF FRIEDREICH'S IT MAY BE THE NUMBER OF REPEATS OF AGE OF ONSET, HOW MUCH DRUG EXPECT DO YOU EXPECT TO HAVE? WHAT'S YOUR PLACEBO EFFECT AND WE CAN USE THE DATA TO CORRECT DISEASE PROGRESSION MODELS TO BUILD NY -- INTO A TOOL LIKE THIS AND SEE HOW LONG YOU NEED TO RUN THE TRIAL FOR IN ORDER TO SEE A CLEAR DIFFERENTIATION BETWEEN THE DRUG AND PLACEBO. WE CAN'T MAKE IT LOOK LIKE IT'S GOING TO WORK IF IT'S NOT. THAT'S THE ASPIRATIONAL GOAL AND SOMETHING DONE IN A NUMBER OF DISEASES OR WORKING ON A NUMBER OF DISEASES. THIS A MOCK-UP. OUR DATA DOESN'T LOOK LIKE THAT YET. IT'S A DATABASE. IF THE DATA IS OUT THERE THERE'S A ZILLION THINGS WE CAN DO WITH IT. AND THERE'S TWO SLIDES OF QUESTIONS WE COULD ASK WITH THE DATABASES. I'M SURE EVERY ONE OF YOU IS THINK OF 17 OTHER QUESTIONS YOU CAN ANSWER WITH THE DATABASE SO THERE'S PLENTY OF WORK FOR EVERYONE. IT CAN HELP US UNDERSTAND DISEASE VARIATION AND FRIEDREICH'S KEEPS HAVING SHORT CLINICAL TRIALS AND IT WORKS IN THREE MONTHS. WELL, EVERYTHING WORKS FOR THREE MONTHS BUT IF WE CAN MODEL THE PLACEBO EFFECT I HAVE MORE ENCOURAGEMENT TO KEEP GOING THAN IF IT'S JUST LOOKING LIKE EVERY OTHER PLACEBO WE'VE SEEN AND THERE'S THE VALUE OF INTEGRATING THE HISTORY DATA AND PLACEBO DATA. THAT WAS OUR NUMBER ONE PRIORITY IS UNDERSTANDING THE PLACEBO AFFECT TO UNDERSTAND THE TRIAL BETTER. AND UNDERSTANDING WHAT AFFECTS THE CHANGES IN THE BIOMARKER TO CHOOSE THE RIGHT POPULATION FOR A SHORTER TRIAL OR TRIAL INVOLVING FEWER PATIENT TO GIVE YOU INDICATION OF AN EFFECT OF A DRUG AND I LOVE THIS. THIS A COMPLICATION AND INTERESTING PROJECT. THIS DATA'S FANTASTIC FOR OPTIMIZING CLINICAL TRIALS IF THE DATA EXISTS IN THE DATABASE. IT'S ALL BASED ON WHATEVER FUNDAMENTAL DATA YOU'RE PUTTING IN. I'VE DISCOVERED OTHER WAYS BEYOND CLINICAL TRIALS WHETHER IT'S PREDICTION OF CLINICAL CHANGES AND INFORMATION EXTENSIVE CARE AND PATIENTS USING THE CURRENT STANDARD OF CARE LOOKING AT THOSE WHO AREN'T, PERHAPS. USE OF OTHER TREATMENTS. IN THE FRIEDREICH'S WORLD THEY USE DIFFERENT DRUGS AND PERHAPS WE CAN USE A BIOMARKER DISCOVERY AND COMPARISON BETWEEN NATURAL HISTORY AND CLINICAL TRIAL DATA EFFECT. THERE'S A GROUP IN THE U.K. TAKING MY DUCHENNE DATABASE AND DEVELOPING INCOME MODELS OF DISEASE AND -- ECONOMIC MODELS AND IT'S A USE I WOULDN'T HAVE PREDICT AND MACHINE ALGORITHMS TO LEARN THINGS YOU WOULDN'T HAVE THOUGHT OF BASED ON THE DATA. I'M A BIG PROPONENT OF SHARING THE DATA WITH EVERYBODY BECAUSE EVERYONE IN THE ROOM HAS IDEAS OF WHAT TO DO WITH IT. I DON'T HAVE THE MONOPOLY AND A GREAT BELIEVER IN GETTING IT OUT THERE AND THE FRIEDREICH'S IS A NICE EXAMPLE OF A SMALL DISEASE THROUGH THE POWER OF COLLABORATION WE HAVE A LOT OF DATA AND IT WILL BE REALLY MOVED BY THE COMMUNITY TO MOVE THINGS FORWARD IN THE FUTURE. IT'S A PROJECT I'M EXCITED ABOUT AND HAPPY TO HAVE TALKED TO YOU ABOUT IT AND LOOK FORWARD TO TELLING YOU IN A FEW YEARS IT'S MOVED FORWARD BUT EARLY DAYS. >> I'M FROM THE MICHAEL J. FOX FOUNDATION AND LUCKILY THE SPEAKERS SAID EVERYTHING I WAS GOING SAY SO I'LL GET US BACK ON TIME. I WANT TO GIVE A COUPLE EXAMPLES AROUND PARKINSON'S DISEASE AND DATA AND A COUPLE THEMES I HEARD AND WANT TO EMPHASIZE IS THE IMPORTANCE OF GENERATING AND COLLECTING HIGH-QUALITY DATA FROM PEOPLE WITH THE DISEASE. CLINICAL AND MOLECULAR DATA AND FEEDS THE WORK DONE IN THE LABORATORY AND DRUGS TO BE DEVELOPED AND A MAJOR AREA IN A LOT OF NEUROLOGICAL DISEASES RARE AND COMMON IS LACKING. IT'S A REALLY IMPORTANT AREA. THERE ARE DIFFERENT WAYS TO GO ABOUT COLLECTING THIS DATA AS YOU HEARD. I'LL TALK ABOUT A FEW THAT ARE GOING ON IN PARKINSON'S WHERE THERE COULD BE A RIGOROUS DATA BASED CLINIC COLLECTION THAT IS LIMITED TO THE COLLECTION AND IT'S EXPENSIVE TO DO CLINIC BASED DATA COLLECTION IF YOU WANT TO DO BRAIN IMAGING OR BIO-SAMI BIO-SAMING -- BIOSAMPLING AND THERE'S AVAILABLE TOOLS ON THE INTERNET THAT MAY BE MORE SUPERFICIAL DATA AND THEY TALKED ABOUT THE "ALL OF US" INITIATIVE. WE NEED TO TAKE ALL THE APPROACHES AND KNOW THE STRENGTHS AND WEAKNESSES TO THE POINT ABOUT USING THE DATA IS ONLY AS GOOD AS THE DATA COLLECTED AND BEING SMART ABOUT HOW YOU USE DATA TO UNDERSTAND THE STRENGTHS AND WEAKNESSES OF THE DIFFERENT DATA SOURCES. I'M GOING TO RUN THROUGH QUICKLY A COUPLE EXAMPLES IN PARKINSON'S. THIS SLIDE IS TO REMIND ME YOU HAVE THE ABILITY OR RESEARCHERS HAVE THE ABILITY TO COLLECT LOTS AND LOTS OF DIFFERENT DATA. DATA COLLECTION IS NOT BECOMING THE CHALLENGE ANYMORE FROM ONE BLOOD SAMPLE YOU CAN GET MILLIONS AND BILLIONS OF DATA POINTS. WHAT ARE YOU GOING TO DO WITH THAT DATA AND IS IT DESIGNED TO COLLECT IN A SMART WAY IS WHERE THE CHALLENGE IS COMING NOW. WE HAVE TWO STUDIES IN PARKINSON'S. THE OTHER POINT I WANT TO MAKE IS THIS TAKE A VILLAGE. THIS IS PARTNERSHIPS. THE MEETING THEME IS PARTNERSHIP AND IT TAKE PARTNERSHIP TO DO THIS WELL NOT ONLY THE STUDY PARTICIPANTS BUT ACROSS THE INDUSTRY OF THE GOVERNMENT, NON-PROFIT AND ACADEMIC TEAMS. SO THE FIRST STUDY IS THE PARKINSON'S PROGRESSION MARKER INITIATIVE. IT'S MORE THE CLINIC-BASED TRIAL OR STUDY. IT'S A NATURAL HISTORY STUDY OF PARKINSON'S WITH THE GOALS OF DEVELOPING BETTER BIOMARKERS OF THE DISEASE AS WELL AS GETTING A BETTER UNDERSTANDING ON THE VARIABILITY OF THE DISEASE. THERE'S ABOUT 1400 PARTICIPANTS THAT GO ACROSS DIFFERENT TYPES OF COHORTS, NEWLY-DIAGNOSED PARKINSON'S PATIENTS AN INDIVIDUALS AND THOSE WHO SO THE SYMPTOMS BUT NOT ALL THE BIOMARKERS. PEOPLE FREQUENTLY MISDIAGNOSED WITH PARKINSON'S DISEASE AND INDIVIDUALS WHO CARRY SPECIFIC GENETIC MUTATIONS THAT INCREASE THE RISK OF PARKINSON'S. SO LOTS OF GROUPS OF PEOPLE. GENERALLY LIMITED IN SCOPE OF SIZE FOR A COMMON DISEASE OVER 1 MILLION OF PARKINSON'S AND THIS IS 1400 INDIVIDUALS. THIS IS RIGOROUS DEEP DATA AND LONGITUDINAL DATA WHICH IS IMPORTANT WITH THE CHRONIC DISEASES TO TRACK OVER TIME. SO THESE INDIVIDUALS WHAT PARTICIPATE IN THIS STUDY ARE CLINICAL RESEARCH PARTICIPANTS SUPER HEROES. MANY ARE NOW IN THEIR EIGHTH YEAR OF PARTICIPATION. YOU CAN SEE THE RIGOROUS DATA COLLECTED FROM THEM, CLINICAL DATA, BRAIN SCANS, SO DOPAMINE SCANS OF THE BRAIN, M.R.I. SCANS, EXTENSIVE BIOSAMPLING INCLUDING AN INDIVIDUAL THAT'S BEEN IN THE STUDY EIGHT YEARS, MOST OF THEM HAVE DONE SEVEN SPINAL TAPS TO COLLECT THAT SPINAL FLUID FOR ANALYSIS AND WE'VE ALSO ADDED WEARABLE DATA, WEARABLE SENSOR DATA TO SUPPLEMENT THE IN-CLINIC TESTING. THIS IS A DETAIL, DEEPLY PHENOTYPE INFORMATION. ALL THE DATA IS MADE AVAILABLE IN REAL TIME. EACH WEEK THE DATA'S UPLOADED AND AVAILABLE TO THE RESEARCH COMMUNITY AND BIOSAMPLES ARE AVAILABLE AND THE OTHER TWO GROUPS I MENTIONED HERE, ARE GROUPS INTERESTED IN ADVANCED ANALYTICS METHODS AND THE POINT IS JUST BECAUSE YOU MAKE DATA AVAILABLE DOESN'T MEAN THE HORDES OF PEOPLE START RUNNING TOWARDS YOUR DATA. IT TAKE AN ACTIVE EFFORT TO ADVERTISE YOUR DATA AND TO NOTIFY PEOPLE WHO HAVE EXPERTISE AND ANALYTICS THE IMPORTANT QUESTIONS YOU ARE TRYING TO ANSWER. AND TO INCENTIVIZE THE GROUPS TO USE YOUR DATA VERSUS ALL THE OTHER DATA THEY MIGHT BE ABLE TO ANALYZE AND WORK WITH. I THINK THIS SAY GREAT EFFORT TO REALLY -- IS A GREAT EFFORT TO PUSH THE DATA OUT AND MAKE IT AVAILABLE. THE WORK DOESN'T END THERE. YOU HAVE TO DO A LOT OF WORK TO BRING THE PARTNERS TOGETHER TO MAKE THE MOST OF THE DATA SET. THE OTHER STUDY -- BEFORE I GO TO THE OTHER STUDY, THIS IS WHERE I WANT TO TALK ABOUT THE PARTNERSHIP MODEL. SUSANNA MENTION THE AMP PROGRAM AND IT IS A COLLABORATION BETWEEN NIH AND FNIH AND THEP -- THE PPR IS NOT THE ONLY CLINIC-BASED BIOMARKER PROGRAM AND THERE'S A PROGRAM THAT HAS USED THE SAME PROTOCOLS IN COLLECTIONS SO THE SAME SAMPLE PROCESS AS THE PPI INITIATIVE. AND WHAT AMP PD HAS ALLOWED TO BRING IT TOGETHER IN ONE AREA TO BE MADE AVAILABLE TO THE RESEARCH COMMUNITY AND VERILY IS BUILD DATA PLATFORM ALLOWING FOR REPLICATION AND CROSS-STUDY ANALYSIS. IT ADDS TO THE SAMPLE SIZE. NOW WE'RE IN THE THOUSANDS OF PEOPLE WHO HAVE BEEN PHENOTYPED AND BECAUSE OF THE UNFRONT WORK WAS DONE TO -- UP FRONT WORK WAS DONE TO CORRELATE THE PROTOCOL IT IS USEFUL FOR COMBINING THE DATA AND WHERE PARTNERSHIP AND COMMUNICATION ACROSS THE FUNDERS IS ALSO IMPORTANT. AND I WANT TO MOVE TO THE OTHER STUDY HOW DO YOU GET LARGER NUMBERS OF PEOPLE IN THE PROJECT AND TO REACH PEOPLE THAT MAYBE DON'T LIVE NEAR ONE OF THE CLINICAL CENTERS TO DO THE PHENOTYPING AND THERE'S PARTICIPANTS WITH PARKINSON'S DISEASE AND WE HAVE A PARTNERSHIP WITH 23 AND ME SO EVERYBODY WITH PARKINSON'S IN THIS PROJECT CAN GET THEIR GENETIC TESTING DONE THROUGH 23 AND ME AND THE DATA IS MADE AVAILABLE AND 73,000 PEOPLE HAVE DONE THAT NOW. SO THERE' BIOLOGICS. WE JUST LAUNCHED FOX DEN AT THE END OF LAST MONTH, THE DATA PORTAL FOR THE FOX INSIGHT PROJECT AND PEOPLE AND RESEARCHERS CAN ACCESS DATA HERE AS WELL AS IN TERMS OF WHAT'S BEEN COLLECTED AND IT'S AN EXAMPLE OF THE GENETIC DATA AVAILABLE THROUGH THE PLATFORM. THESE ARE MEANT TO COMPLEMENT EACH OTHER. IF YOU'RE DEEP PHENOTYPED DATABASE AND THE LARGER MORE SUPERFICIAL DATABASE. I WANTED TO SUMMARIZE, A LOT OF THE SAME CHALLENGES MENTIONED BUT I DO THINK IT'S VERY IMPORTANT TO HAVE THESE ROBUST STANDARDIZED LONGITUDINAL DATA SETS. IT'S A LACK OF INFORMATION WE'VE HAD IN NEUROLOGICAL DISEASES OVER THE YEARS TO UNDERSTAND THE PROGRESSION OF THE DISEASE AND THE UNDERLYING MOLECULAR SCIENCE THAT MAY BE ACCOUNTING FOR THE VARIABILITY IN THIS DISEASE. COMBINING AND COMPARING DIFFERENT KINDS OF DATA SETS ACROSS COHORTS AND STUDIES IS USEFUL TO GET A HANDLE ON THE INFORMATION AND BRINGING THE TOOLS TO THE DATA BECAUSE YOU ALSO WANT TO MAKE SURE YOU'RE DISEASE EXPERTS, WHO MAY NOT HAVE ALL THE ANALYTIC CAPABILITIES, CAN INTERACT TO SETS YOU HAVE AND MY LAST POINT TO PLUG IS THAT PEOPLE WITH THESE CONDITIONS ARE THE SOURCE OF INFORMATION. THEY KNOW WHAT IT'S LIKE TO LIVE WITH THE DISEASE AND HAVE ALL THE INFORMATION WE WANT IN ORDER TO UNDERSTAND THE DISEASE AND DEVELOP TREATMENTS. ENGAGING THEM IS CRITICAL. THANK YOU. >> FIVE MINUTES FOR QUESTIONS AND THEN BREAKOUTS AFTER THAT HEAD OUT. >> AND THE FRIEDREICH'S DATABASE WAS THE EASIEST DISEASE I'VE WORKED ON IN TERMS OF WORK THE COMPANIES WHO RAN THE CLINICAL TRIALS. THEY ALL WORKED CLOSELY WITH DESIGN OF THE TRIALS AND ASKED AND THEY SAID SURE, OBVIOUSLY, IT HAD TO BE ANONYMIZED AND THE FIRST TWO DATA SETS AND WE TALKED ABOUT LAUNCHING THE DATABASE. AND IN CONTRAST TO DUCHENNE WHILE THERE ARE STILL SOME DATA SETS THERE'S MORE BARRIERS TO BRING DOWN. GENERALLY, COMPANIES ARE BEGINNING TO UNDERSTAND DATA SHARING. THEY DON'T LOVE SHARING DRUG ARM DATA FOR UNDERSTANDABLE REASONS SO I STOPPED ASKING FOR DRUG-ARM DATA AND BASELINE DATA THEY'RE MORE WILLING TO SHARE SO LONG AS THEY UNDERSTAND THERE'LL BE INTEGRATION IN THE DATABASE. WE DO HAVE FAIRLY PRECISE DATA SHARING AGREEMENTS SAYING WHAT WE CAN AND CAN'T DO WITH THE DATA AND HOW WE CAN AND CAN'T SHARE IT. WE GENERALLY HAVE TO HAVE A DISCUSSION TO COME TO TERMS WITH THAT. >> WE RUN A PATIENT REGISTRY LIKE THE VIRTUAL PORTAL YOU DESCRIBED IN FOX AND WE HAVE A LOT OF WORK AROUND THE CLEANING OF DATA. I'M WONDERING AS YOUR INTEGRATING MORE AND MORE DATA SETS I THINK IT COMPLICATES THE ISSUES RELATED TO HETEROGENEITY. I'M WONDERING HOW YOU'RE DEALING WITH THE CHALLENGES. >> THAT'S ONE OF THE REASONS WE USE IS THE DATA COMES IN AND WE START COMING UP WITH THE QUESTIONS. I THINK ONE THING WE LEARNED WITH THE FRIEDREICH'S DATABASE AND IT WAS YOU CAN'T DO THE PROJECT WITHOUT SOME INFORMATION OF THE DISEASE AND THE DIFFERENT VERSIONS OF THE SAME SCALE AREN'T COMPARABLE AND YOU'LL HOSTEN HAVE TO GO BACK TO THE PEOPLE TO ASK THEM, WHEN DID YOU START TIMING IT OR AND OUR DATA TEAM'S PRETTY GOOD AT KNOWING THE QUESTIONS TO ASK BUT STILL NEEDS EXPERTISE AS WELL. >> TO ADD TO THAT, I THINK DOCUMENTATION AROUND THE DATA IS REALLY IMPORTANT. IT REFERS TO MAKING SURE THE DATA HAS DICTIONARIES THAT ARTICULATE WHAT WE MEAN BY THIS TERM IN THIS DATA SET. THERE'S SOME DEGREES OF FREEDOM THAT INVESTIGATORS USE AROUND THIS AND GET HANDLE ON THAT AT LEFT TO KNOW WHAT THEY MEANT WHEN THEY COLLECTED IT AND THEN THINGS ALSO COST MONEY SO AS YOU BRING THE DATA TOGETHER YOU CAN MAKE GRANTS OUT TO GROUPS OR IF YOU HAVE THE INTERNAL EXPERT EASE TO THEN FIGURE OUT THE BEST WAY TO HARMONIZE THE DATA BASED ON A BETTER UNDERSTANDING OF WHAT THAT WAS COLLECT AND THE DATA DICTIONARIES WILL GET FORMED AND IT NEVER REALLY GETS COMPLETED PROPERLY. >> I WOULD ADD ONE THING, ONE OF THE THINGS WE DID WAS PUSHED FORMS INTO THE E.M.R. USED SO WE'RE NOT TRYING TO GET TO UNSTRUCTURED DATA. ALMOST EVERYTHING'S A DROP DOWN. THE THINGS OPEN TO INTERPRETATION ARE LIMITED THOUGH I THINK THE DICTIONARY PORTION IS A VERY IMPORTANT ASPECT. >> ARE YOU FUNDING THAT FORM OR THE TIME AND EFFORT IT TAKE TO COMPLETE THE FORM OR -- >> SO I RELY ON HOSPITAL THANTHROPPY TO IMPROVE THE -- PHILANTHROPY TO THE PATIENT POPULATION AND HAVE DONE NO FUND-RAISING. >> THANK YOU ALL FOR AN EXCELLENT PANEL. I THINK YOU LAID OUT SO MUCH OF THE CHALLENGES AND THE OPPORTUNITY OF THE HIGHLY COMPLEX DATA SETS. I'M CURIOUS THERE'S A BRIEF MENTION ABOUT ALMOST THE NEXT STEP OF SHARING THE COMPLEXITIES OF THE DIFFERENT ANALYSES WHEN ALGORITHMS CAN BE SHARED ALONG SIDE THE DATA WHEN HAVE YOU TOOLS TO ENABLE FOR PEOPLE WHO DON'T HAVE THOSE. THE VERY -- IT'S JUST A COMPLEX IN MANY WAYS IT SEEMS TO ME AS THE ACTUAL COLLECTION OF THE DATA. I WOULD LOVE TO HEAR COMMENTS ON WHAT'S THE STAGE OF THE SCIENCE OF SHARING ANALYSES AND ENABLING THE ANALYSES THEMSELVES. >> SO I CAN START BECAUSE THIS IS HAPPENING THROUGH SOME OF THE CUTTING EDGE THROUGH THE AMP PERHAPS AND THE ONE I'M MOST FAMILIAR WITH IS THE AMP PD. BECAUSE ONE OF THE PRESENTATIONS THIS MORNING WAS TALKING ABOUT HOW THE ANALYSIS IS NOW HAPPENING IN THE CLOUD. IT DOESN'T INVOLVE SO MUCH SOMEONE DOWNLOADS THE DATA INTO THEIR LAPTOP AND GOES IN THE LIBRARY KU -- QUEUE FOR ANALYSIS. IT ALLOWS FOR THE ANALYSIS TO BE SHARED THROUGH THE CLOUD PLATFORM. SO PEOPLE CAN THEN SHARE THEIR WORKBOOKS AND BUILD ON TOP OF ANALYSES HAPPENING. THERE'S AN ADVANTAGE OF THAT BECAUSE WHAT WE FOUND AT LEAST WITH THE PPMI STUDY WHERE THE DATA COULD BE MADE WIDELY AVAILABLE, THE ANALYSIS THAT'S DONE BY EXTERNAL RESEARCHERS IS NOT ACTUALLY COMPLETELY ACCURATE. LIKE THEY DON'T HAVE THE RIGHT SAMPLE SIZE IN THEIR PUBLICATION. WE ONLY HAD 400 PARKINSON'S PATIENTS BUT YOU'RE PUBLISHING 700 SO SOMEHOW THERE'S A DISCONNECT THERE. THIS WILL BE THE NEXT AREA. THEN THERE'S THE WHOLE CULTURE OF PEOPLE WANTING TO SHARE THEIR ANALYSES BUT THERE ARE PLATFORMS THAT ALLOW IT AND I THINK ANOTHER CHALLENGE WHICH I THINK IS PART OF YOUR QUESTION IS THAT THE EXPERTISE IS GETTING MORE AND MORE SPECIALIZED. HOW DO YOU MAKE SURE THE NEUROLOGIST WHO UNDERSTAND THE DISEASE DOESN'T GET LOST IN THE PLATFORM AND THE PROCESS SO PEOPLE DOING THE ANALYSIS LOSE TOUCH WITH WHAT THE CLINICAL QUESTIONS ARE WE'RE TRYING TO ADDRESS. >> JUST TO ADD TO THAT, WE FOUND SOME OF THE ORIGINAL TOOLS WE BUILT THE FIRST WAS ALZHEIMER'S DISEASE WE SHARED THE CODE BUT YOUR AVERAGE CLINICIAN DOESN'T READ CODE VERY WELL AND WE PUT IN TIME AND EFFORT TO MAKE NICE LITTLE PICTURES LIKE THE SIMULATOR WHERE YOU CAN DIAL UP THINGS IN CLINICIAN OR SCIENTIST LANGUAGE NOT JUST IN COMPUTER CODE. I SAY THAT AS SOMEONE WHO CAN'T READ A COMPUTER CODE MYSELF. >> THANK YOU SO MUCH. >> HI, I'D LIKE TO TRY TO GET US BACK ON SCHEDULE. I HAVE A FEW ANNOUNCEMENTS. THE NEXT THING THAT WILL HAPPEN IS MEET THE PROGRAM DIRECTOR'S SESSION AND WE'RE EXTENDING THE TIME TO 11:30. WE'RE GOING CUT THE BREAK-OUT SESSIONS TO JUST HALF AN HOUR EACH. WE'LL GIVE YOU EXTRA TIME WITH MEET THE PDs. FOR THE MEET THE PROGRAM DIRECTORS WE'RE ABOUT TO PUT UP SLIDES TO SHOW WHICH PROGRAM DIRECTORS YOUR GROUPS HAVE BEEN ASSIGNED TO. SO WE'LL BE SHOWING IT UP HERE AND WE'LL HAVE SOME SHEETS AT THE BACK AND IF YOU HAVE ANY QUESTIONS ABOUT WHERE YOU NEED TO GO, PLEASE ASK. THEY'RE GOING TO BE TWO SESSIONS IN HERE AND CONFERENCE ROOM A, B, D AND THE CAFETERIA. AND WE'LL COME UP AND TELL YOU MORE ABOUT THE MEET THE PROGRAM DIRECTORS SESSION BUT THAT'S NEXT. RIGHT AFTER THAT WE'LL GO AT 11:30 TO THE BREAKOUT SESSIONS. JUST TO MAKE THINGS BETTER ORGANIZED WE BROKE IT INTO ALPHABETICAL BY LAST NAME, A THROUGH K WILL GO TO THIS ROOM AND CONFERENCE ROOM C FOR THE CELL THERAPY AND GENE THERAPY. BREAKOUT SESSION FIRST L THROUGH Z WILL GO TO SESSION 1 IN CONFERENCE ROOM A. AND THEN YOU CAN SWITCH TO GO TO THE OTHER GROUP. THEN IT'S THAT LUCKY TIME. IT'S LUNCH TIME. IT'S A NICE DAY. LUNCH IS ON YOUR OWN. PLEASE FEEL FREE TO ASK FOR RESTAURANT LISTS BACK THERE. WE HAVE TONS OF RESTAURANTS VERY CLOSE BY AND WALKING DISTANCE. I'M GOING TURN IT OVER TO LINDA IN A SECOND AND ONE MORE ANNOUNCEMENT. THERE IS A CARD FOR WALTER IN THE BACK. IF YOU'D LIKE TO SIGN IT, WE HAVE THE EXECUTIVE COMMITTEE AND WE'RE GOING TO SEND THIS ON TO PLEASE SIGN IT IF YOU HAVEN'T HAD A CHANCE TO YET AND WE'LL BE BACK HERE, I HOPE, ALL BACK BY 1:30 FOR THE AFTERNOON SESSIONS. THANKS SO MUCH. THE -- SUMMARY OF THE BREAKOUT WE'LL GIVE WE'LL TRY TO CONSIDER WHAT WE LEARN FROM THE PANEL DISCUSSION YESTERDAY AND TODAY AND TURN TO YOU AND ASK YOU WHAT YOU THOUGHT YOU LEARNED FROM BOTH THE PANEL DISCUSSION THAT WAS MEANINGFUL TO YOU. THE PANEL DISCUSSION AND THE BREAKOUT. WE'LL ASK CYNTHIA TO KICK OFF KEY LEARNINGS. >> SO WHAT I LEARNED ABOUT I THOUGHT KNOW SELF WHAT ARE THEY GOING TO SAY ABOUT CELL THERAPY BECAUSE WE HEARD RECENTLY ABOUT TLEEN -- GENE THERAPY BUT I WAS SURPRISED AT THE ADVANCES THAT HAD BEEN MADE ESPECIALLY IN THE TRIALS THAT HAVE BEEN STARTED OR ARE GOING TO START. I KNEW FOR STROKE AND HEART ATTACK STEM CELL THERAPIES WERE IN THE LEAD BUT WASN'T AWARE OF THE PROGRESS MADE FROM STEM CELLS AND CERTAINLY THE ALS TRIAL WAS NEWS TO ME. SO I WAS PLEASANTLY SURPRISED AT THE ADVANCES THIS FIELD OF THERAPY HAD BEEN MADE AND IN TERMS OF TAKE HOME THIS IS NOT A SPRINT, IT IS A MARATHON BOTH MONETARILY AS WELL AS TIME. AND WE HAVE TO DESIGN OUR TRIALS WELL TO LEARN FROM THEM WHETHER THE RESULT IS POSITIVELY OR NEGATIVE. AND I THINK ALSO THERE WAS A POSITY OF THINKING WHERE CAN I LEARN TO GO ABOUT THESE THERAPIES MORE IN DEPTH BUT IN A LAY FRIENDLY FASHION AND FOLLOW THEM. I TRIED TO PROVIDE RESOURCES FOR THAT I THOUGHT WERE GOOD WHICH WAS THE INTERNATIONAL SOCIETY FOR STEM CELL RESEARCH AND THE AMERICAN SOCIETY FOR GENE AND CELL THERAPY. >> GREAT, THANK YOU, CYNTHIA. I'LL QUICKLY SUMMARIZE THE KEY LEARNING AND TURN TO YOU, CHRIS, AND SEE WHAT YOU THOUGHT. WE DIFFERENTIATED BETWEEN GENE EDITING AND THERAPY AS BARRY BURN SAID GENE EDITING IS ANOTHER FORM OF GENE THERAPY. IN THE GENERIC USE OF GENE THERAPY WE'RE REFERRING TO ANYTHING DUE TO PROVIDE THERAPY TO THE GENE EDITING. pTO GENE REPLACEMENT THERAPY.ED WHEN YOU'RE USING A VECTOR OF SOME SORT, USUALLY A VIRAL VECTOR TO DELIVER GENETIC INFORMATION TO ANOTHER CELL THAT WOULD BE GENE THERAPY VERSUS GENE EDITING WHERE YOU'RE USING A CRSPR9 TO OPERATE ON AND DO MOLECULAR THERAPY TO A GENE THAT'S NATIVE RATHER THAN DELIVER A NEW GENE. WE LEARNED THERE'S BEEN A RISE IN GENE THERAPY PROGRAMS AROUND THE COUNTRY AND WORLD. WHEN WE HELD LAST AUGUST A TWO-DAY FORUM ON GENE THERAPY AT THE NIH, CO-HOSTED BY CHRIS AUSTIN OF NCATS AND CHRIS BRYAN OF CEBAR THE TALK WAS ABOUT THE GENE THERAPY PROGRAMS ACTIVE IN THE UNITED STATES. I CHECKED YESTERDAY AND IT'S MORE THAN DOUBLED NOW THEY'VE GOT A LOT OF GENE TLAPY PROGRAMS OUT THERE. WE ASKED IF GENE THERAPY WAS AN APPROPRIATE ADOPTABLE BY ALL OF OUR DISEASES? WELL, WE DON'T KNOW YET BUT THE FOCUS HAS BEEN ON MONOGENIC DISEASES AND RECESSSIVE DISORDERS THAT ARE LOSS OF FUNCTION DISORDERS. THOSE ARE CONSIDERED THE LOW HANGING FRUIT, IF YOU WILL, FOR GENE THERAPY. THER THERAPY AND IS THIS GOING TO BE SO PROFOUNDLY BENEFICIAL WE SHOULD NEGLECT THE OTHER APPROACHES. ABSOLUTELY NOT. TWO REASONS, NONE OF THESE WILL BE ONE AND DONE. NUN ARE GOING TO BE -- FON ARE GOING TO BE -- NONE ARE GOING TO BE ONE AND DONE. WE DON'T STOP FILLING THE BASIC SIZE PIPELINE UNTIL WE GET THE JOB DONE. AND WHAT DO WE AS PATIENT ADVOCATES IN OUR GROUP NEED DO TO PREPARE FOR GENE THERAPY. THE ANSWER RESOUNDINGLY WAS CHARACTERIZE YOUR DISEASE, DEVELOP AS MUCH AS NATURAL HISTORY AS YOU POSSIBLY CAN. YOU NEED THEN SOUND PRE-CLINICAL DATA. YOU HAVE TO BE ABLE AS WILSON BRYAN SAID YESTERDAY, WHEN YOU SUBMIT YOUR NID KEEP IN MIND THE PRE-CLINICAL DATA HAS TO BE SO SOLID YOU HAVE TO CONVINCE SOMEBODY THAT DOESN'T BELIEVE IN YOUR PROGRAM IT HAS THE CHANCE OF WORKING AND WORK SAFELY. THE IMPORTANCE OF NATURAL HISTORY IN THAT REGARD. AND THEN PRE-CLINICAL DATA IN YOUR ANIMALS AND SO FORTH. WE ASKED THE QUESTION GENERALLY, NEVER GOT A REALLY CLEAR-CUT ANSWER TO PLACEBO CONTROL IN GENE THERAPY. WE KNOW THERE'S TRIALS BEING DONE WITH THAT THAT CONTROL AND WE'RE TRYING TO USE A COHORT AND YESTERDAY THEY SAID OKAY, THIS NATURAL HISTORY COHORT IS WELL MATCHED WITH A TRIAL COHORT AND YOU SEE ACROSS THE SIX OR TWELVE MONTHS THEY'RE NOT IMPROVING AND THE DRUG ARM IS IMPROVING YOU HEARD THE SHAM APPROACH. THE FAKE NEWS APPROACH TO GIVING AN INJECTION OF GENE THERAPY. AND IT'S SO DANGEROUS TO TRY TO USE AN OPEN-LABEL CLINICAL TRIAL IN ANY KIND OF THERAPY BECAUSE UNLESS THE TREATMENT AFFECT IS JUST OFF THE CHARTS YOU'LL ALWAYS HAVE THE QUESTION ABOUT THE PLACEBO EFFECT. HAVE A GOT A DOSE OF GENE THERAPY IN A CLINICAL TRIAL? WOULD I EVER BE ELIGIBLE FOR ANOTHER CLINICAL TRIAL OF A DIFFERENT PRODUCT OR ELIGIBLE FOR ANOTHER THERAPY IF IT BECAME AVAILABLE? THE ANSWER IS IN TWO PARTS. FOR VARIOUS REASONS SAY YOU GOT A DOSE IN A CLINICAL TRIAL OF GENE THERAPY IN YOUR DISEASE, THE COMPANY RUNNING THE SECOND CLINICAL TRIAL IN EITHER GENE THERAPY OR DIFFERENT STRATEGY WOULD BE RELUCTANT, NO DOUBT, TO HAVE YOU ENROLLED IN THEIR CLINICAL TRIAL BECAUSE YOU'RE THE EFFECT OF THAT GENE THERAPY MIGHT CONFOUND THEIR DATA RESULTS AND DIMINISH THE POSSIBLITY THEY GET A REGISTRATIONABLE TRIAL. POSSIBILITY THEY GET A REGISTRATIONABLE TRIAL. THE OTHER ISSUE RAISED WAS SAY THE GENE THERAPY YOU WERE IN THE TRIAL FOR THE MARKET IS APPROVED AND SAY IT'S APPROACHING REPLACEMENT THERAPY. AND YOU SHOULD BE ABLE TO TAKE BOTH BUT HOW WILL YOU CONVINCE THE INSURANCE COMPANIES. JUST PAID $1 MILLION FOR YOUR GENE THERAPY TO PAY $750,000 FOR YOUR PROTEIN REPLACEMENT THERAPY AND IT'S AN OPEN QUESTION. HOPEFULLY, WE'LL BE UP AGAINST THAT ISSUE WHEN WE HAVE MULTIPLE THERAPIES FOR EACH OF THESE DISEASES. AND FINALLY, YOU HEARD IN ANSWER TO AMBER FREED'S QUESTION ABOUT HOW MUCH TIME TO SPEND ON PRE-CLINICAL HISTORY AND HOW TO BUILD A PACKAGE BEFORE YOU GO TO CLINICAL TRIAL AND HOW YOU ACCELERATE THE PROGRAM. WILSON BRYAN'S ANSWER WAS CLEAR YOU, DON'T HAVE TO HAVE THE HISTORY TO EXPLAIN ALL EVERYTHING GOOD THE DISEASE BUT THE MECHANISMS AND POSSIBLE ACTION BUT HAVE TO HAVE ENOUGH NATURAL HISTORY TO UNDERSTAND THE TARGET THAT MIGHT ADDRESS. AND YOU NEED TO UNDERSTAND IT SUFFICIENTLY YOU CAN CONVINCE THE FDA THAT THAT THERAPY HAS A CHANCE TO ADDRESS THAT TARGET AND THAT THAT TARGET IS WELL ESTABLISHED. YOU UNDERSTAND THE MECHANISM OF DAMAGE IN ACTION. I'LL STOP THERE AND GO TO CHRIS. >> GOOD SUMMARY. THERE WAS A CONVERSATION ABOUT THE UNIQUE CHALLENGES OF SMALL PATIENT POPULATIONS IN SOME CASES N EQUALS 1 AND THE pSIDE AND FUNDER PERSPECTIVE.ORY AND IT'S UNREALISTIC WE'LL DO THESE DEVELOPMENT EFFORTS. SO WHAT EXTENT AS A COMMUNITY CAN WE HARMONIZE MANY OF THE DEVELOPMENT ASPECTS OF THESE TECHNOLOGIES LIKE THE MANUFACTURING ASPECTS AND THEN SOMEHOW MEET WITH REGULATORS ON THE OTHER SIDE TO MAKE THIS A MORE PREDICTABLE PATHWAY TOWARDS CLINICAL. THAT'S SOMETHING WE SPEND A LOT OF TIME THINKING ABOUT. IF YOU HAVE ANY IDEAS ABOUT THIS I'D LIKE TO INCLUDE YOU IN THE CONVERSATION. >> THANK YOU, CHRIS. ANY ADDITIONAL THINGS? >> MEGAN O'BOYLE, WE CAN ALWAYS COUNT ON YOU. >> YEAH, SO FOR LEARNING ABOUT STEM CELLS AND STEM CELL THERAPY. DIFFERENT TYPES OF STEM CELLS AND CLINICAL TRIALS WITH STEM CELLS. THE INTERNATIONAL SOCIETY FOR STEM CELL RESEARCH AND I.S.S. STEM CELL V.C.R. THEY'RE GOOD WITH THE STAFF AND THE AMERICAN SOCIETY FOR GENE AND CELL THERAPY DOES A VERY GOOD JOB PROVIDING RESOURCES EDUCATIONAL RESOURCES FOR LAY PERSONS TO UNDERSTAND THE THERAPIES. SO AMERICAN SOCIETY, GENE CELL THERAPY HAVE A GENE THERAPY 101 EDUCATIONAL RESOURCE THEY MADE LIVE AND THEY'RE ALSO GOING TO HAVE A CLINICAL TRIALS AND THERE'S THOSE THAT USE GENE THERAPY NOW SO I THINK THAT'S HELPFUL. >> TALKS ABOUT GENE EDITING TOO. WE POSTED IT ON FACEBOOK. IT WAS THE FIRST REALLY NICE CARTOONY BUT YET DETAILED AND WRITTEN DESCRIPTIONS. PEOPLE LEARN IN ALL KINDS OF WAYS AND SOME PEOPLE WANT TO READ AND SOME WANT A VIDEO AND IT'S A NICE WAY OF SAYING THIS IS WHAT GENE THERAPY OR I LIKE GENE REPLACEMENT THERAPY AND THIS IS GENE EDITING AND THE CRSPR CAS. THERE'S TECHNOLOGY THAT'S BEEN USED IN THE CLINICAL FOR GENE EDITING TECHNOLOGY. IT DOES A NICE JOB OF EXPLAINING THE BASICS. I WOULD SAY IF THIS IS SOMETHING IN YOUR RESEARCH PIPELINE THAT YOU'RE THINKING ABOUT AND THINKING ABOUT FUNDING AS AN ADVOCACY ORGANIZATION LOOK FOR LAY FRIENDLY RESOURCE TO PUT ON FACEBOOK AND E-BLAST OUT TO CONSTITUENTS TO PREPARE THEM FOR WHAT MIGHT BE COMING AND THEN THE REALITY SETS IN WHERE YOU HAVE TO DO EDUCATION. SOMETIMES ONE-ON-ONE WITH YOUR CONSTITUENTS AND FIELD THE QUESTIONS ABOUT WILL THIS WORK FOR ME AND MY CHILD. >> NOW WE'LL GET ABLE UPDATE ON THE MEANINGFUL DATA. >> MEAGAN, I MAY BE CALLING ON YOU AND JAMES. SO I WILL ADMIT I DID NOT DO MY HOMEWORK AND KNOW I HAD TO SUMMARIZE AND I CREATED THIS AT THE END SO IF YOU WERE IN OUR BREAKOUT GROUP FEEL FREE TO CHIME IN AFTER I SUMMARIZE. I WOULD SAY OUR BIGGEST CONVERSATION WAS IT WAS NOT A BIG DATA DISCUSSION. IT WAS A MEANINGFUL DATA DISCUSSION BUT IT WAS ABOUT PATIENT REGISTRIES. I WOULD MAKE A NOTE OF THAT TO OUR PLANNING COMMITTEE THERE'S A MECHANISM WHERE PEOPLE WANT TO STAY ENGAGED AND PEOPLE WHO HAD VALUE TO ADD AND LEARN THINGS IN IT FROM THE DIFFERENT WAYS PEOPLE ARE TRYING THINGS. AND PEOPLE WERE ASKING QUESTIONS HOW TO GET STATISTICAL ANALYSIS DONE IF YOU DIDN'T GET FUNDING AND SOME REALLY CREATIVE WAYS TO FIND POST-DOCS THAT MIGHT BE ABLE TO TAKE A DATA SET AND DO SOME ANALYSIS. HOW AN ABSENCE OF FUNDING TO TAKE DATA YOU'VE GATHERED AND TURN IT INTO SOMETHING MEANINGFUL TO QUOTE RON AND OTHER PEOPLE. AND WE'RE LOOKING TO PATIENT FAMILIES ENGAGED IN WHAT IS UNDERSTANDING WHAT THEY EXPECT BACK. UNDERSTANDING CONSENT, SECURITY AND PRIVACY ISSUES. RESPONSE BURDEN, MANY THINGS AND APPROVING STUDIES THAT GO INTO THE REGISTRY WAS A KEY THING. LOT OF TRYING TO UNDERSTAND THE UNDERLYING PLATFORM AND PLATFORM KIND OF DISCUSSIONS AND DOVE IN A BIT ABOUT WHAT YOU LIKED AND DIDN'T LIKE ABOUT YOUR PLATFORM. CONSENT AND THE IMPORTANCE OF THINKING THROUGH CONSENT ESPECIALLY IN THE PLACE OF GDPR AND NOT HAVING TO GO BACK AND RE-CONSENT PEOPLE PEOPLE AND SOMEBODY MADE THE WISE STATEMENT NOT AS EUROPEAN LAW BUT U.S. LAW BECAUSE IT PLOY -- PROBABLY WILL BE AND IT'S HARD TO CONSTRAIN IT TO THE U.S. DATA ELEMENT. COMMON DATA ELEMENTS HOW TO GET TO DATA ELEMENTS. WE TALKED ABOUT THE VALUE OF CDEs AND ALSO NOT TRYING TO REINVENT THE WHEEL. IF THERE'S A WAY TO PIGGY BACK OFF SOMEBODY ELSE'S REGISTRY IS A WISE IDEA AND TRYING TO CREATE ELEMENTS BASED ON ELEMENTS DEVELOPED BY OTHERS IF THEY'RE NIH BASED CDEs OR IN AN AREA CRITICAL TO SHARING AND DECIDES UNIQ UNIQUE IDENTIFIERS AND CHALLENGES WITH THOSE MAKING IT SO YOU CAN FIND PATIENT ROWS AND STUDIES AND LOTS OF US HAVE BEEN CHAMPIONS OF THAT AND HAVE BEEN DISAPPOINTED WITH HOW HARD IT IS IN PARTICULAR TO COLLECT SOMETHING LIKE MUNICIPALITY OR CITY OF BIRTH OR TO COLLECT FULL NAME AND BE RESPECTFUL OF OTHER CULTURES AND BEING RESPECTFUL OF THAT. AND I CAN'T REMEMBER THE NUMBER AND $50 A MONTH, $60 A YEAR TO UPWARDS OF $50,000 TO RUN THE REGISTRY NOT INCLUDNG STAFF DOING GENETIC MANAGEMENT SO MUCH MORE ABOUT THIS AND LOTS OF SHARED LEARNING FROM LOTS OF PEOPLE AND SHE WAS ANSWERING SO MANY QUESTIONS SO YOU'RE AN HONORARY MEMBER OF THE PRESENTING GROUP AND SHE'S NOW GOING ADD SO SOMETHING I MISSED. >> I'D BE REMISS IF I DIDN'T. NCATS POSTED A TOOL KIT WITH 25 LINKS TO DIFFERENT INFORMATION ABOUT REGISTRIES AND EXAMPLES OF REGISTRIES. EVEN MORE PRECISE IS RADAR. CAP R SMALL A-D-R-A-R, RADAR SMELLED OUT. IT'S LITERALLY A STEP BY STEP FROM THE BEGINNING TO A MORE MATURE REGISTRY THAT NEEDS TO MAINTAIN ITSELF. IT'S LOGICALLY LAID OUT AND BASED ON GROUPS LIKE OURS THAT MADE MISTAKES. IF THIS HAD EXISTED EIGHT YEARS AGO WE WOULD HAVE SAVED TIME AND MONEY. IF YOU DO NOT HAVE A REGISTRY I'D START AT RADAR ON THE NCATS WEBSITE. >> WE'RE MOVING ON TO A TOPIC AND THIS IS THE WAY WE KEEP THE ENTERPRISE GOING AND THE WAY WE FUEL ALL THE DEVELOPMENTS THAT ARE GOING TO OCCUR IN THE FUTURE AND WE MAKE HEALTH BETTER TOMORROW THAN IT IS TODAY. THE TOPIC FOR THE NEXT PANEL IS MOTIVATING THE NEXT GENERATION OF RESEARCHERS AND THE PANEL MODERATOR IS THE PARENT OF A 20-YEAR-OLD SON WITH PHELAN-McDERMID SYNDROME AND HAS BECOME THE RESEARCH SUPPORT COMMITTEE CHAIRPERSON OF THE FOUNDATION. . SHE SERVES ON THE FOUNDATION'S BOARD OF DIRECTORS WHERE SHE PROMOTES RESEARCH TO LEAD TO EFFECTIVE TREATMENTS AND EVENTUALLY TO CURES TO THE DISORDER. >> THANKS FOR THE NICE INTRODUCTION AND MANY THANKS TO MARGO AND JESSICA FOR DOING A GREAT JOB ORGANIZING THE MEETING. THIS SESSION IS GOING TO BE ABOUT IDEAS FOR MOTIVATING THE NEXT GENERATION OF RESEARCHERS AND I HOPE IT WILL BE THE MOST FUN SESSION. ONE OF MY GOALS IS MAYBE YOU'LL LEARN AT LEAST ONE NEW IDEA YOU CAN TAKE BACK TO YOUR ORGANIZATION AND WHEN WE COME BACK IN A YEAR FIND ME AND TELL ME IF ANY IDEAS WORKED. TODD COHEN IS FROM THE UNIVERSITY OF NORTH CAROLINA CHAPEL HILL AND IS DEVELOP CENTER FOR NEURODEGENERATIVE DISEASES AN DEMENTIA THAT LOOKS AT COGNITIVE AGING AND BRAIN DISORDERS AND IT'S HELPING SCIENTISTS TO DEVELOP DRUGS THAT MAY HELP CLEAR PROTEIN CLOG IN THE BRAIN AND LESSEN DISEASE PROGRESSION. A FUN FACT ABOUT TODD IS WE SHOWED A BOWL OF NUTTELLA ICE CREAM LAST NIGHT. AND WE HAVE AN ASSISTANT PROFESSOR AT NORTHWESTERN UNIVERSITY FINEBERG SCHOOL OF MEDICINE AND USED GENE SEQUENCING FOR PEDIATRIC EPILEPSY AND USES PATIENT-DERIVED STEM CELL MODELS TO SHOW HOW MUTATIONS CAN CAUSE EPILEPSY. A FUN FACT ABOUT HER IS SHE CONTINUES TO HAVE CLOSE RELATIONSHIP WITH HER POST-DOCTORAL MENTOR AND SHE'S A CONNOISSEUR OF CRAFT BEERS. PROFESSOR IN THE DEPARTMENT OF NEUROBIOLOGY IN UTAH UNDERSTANDING CELLULAR MECHANISMS DISRUPTED IN NEUROLOGICAL DISORDERS CAUSED BY EPILEPSY AND USING PLURIPOTENT STEM CELLS TO BETTER UNDERSTAND MECHANISMS ASSOCIATED WITH THESE DISORDERS AND DISCOVER NEW THERAPIES. A FUN FACT ABOUT ALEX IS HE LIVES IN UTAH BUT DID NOT MAKE IT TO THE MOUNTAINS A SINGLE TIME THIS WINTER. I WANT TO REFER RESERVE SOME TIME AND TELL US WHAT HAS INFLUENCED YOUR CAREER CHOICE AND AREA OF RESEARCH. RESERVE SOME TIME AND TELL US WHAT HAS INFLUENCED YOUR CAREER CHOICE AND AREA OF RESEARCH. RESERVE SOME TIME AND TELL US WHAT HAS INFLUENCED YOUR CAREER CHOICE AND AREA OF RESEARCH. RESERVE SOME TIME AND TELL US WHAT HAS INFLUENCED YOUR CAREER CHOICE AND AREA OF RESEARCH.RESERVE SOME TIME AND TELL US WHAT HAS INFLUENCED YOUR CAREER CHOICE AND AREA OF RESEARCH. >> I GOT INVOLVED IN MEDICAL RESEARCH BECAUSE I HAD A GRANDMOTHER THAT PASSED FROM ALZHEIMER'S DISEASE. I REMEMBER WATCHING IT HAPPEN AND THINKING, GOSH, I CAN'T BELIEVE WE CAN'T DO ANYTHING ABOUT THE DISEASE AND IT SEEMED EVERYONE KNEW IT WAS TANGLES AND PLAQUES. I FELT IF WE UNDERSTAND HOW PLAQUE AND TANGLES WORKED TOGETHER TO KILL NEURONS WE COULD MAKE SERIOUS PROGRESS IN THIS DISEASE AND GOT ME INTO THE FOUNDATION FOR THE INTEREST. AND I MET SUSAN DICKINSON AS A POST-DOC AND NON-PROFITS WEREN'T ON MY RADAR AND AS A POST-DOC YOU CAN CONTRIBUTE AND DO SOME GOOD. AND SOME PEOPLE THINK IF YOU WORK HARD YOU MOVE TO THE NEXT STEP AND YOU CONTINUE MOVING ON BUT WHEN I LEARN WHAT'D THE A.F.T.D. WAS ALL ABOUT AND AGAIN I'M FORTUNATE I WAS ABLE TO MEET SUSAN AND LEARN ABOUT PATIENT ADVOCACY AND GOT ME MY FELLOWSHIP AND I'VE BEEN CONTINUED TO BE INVESTED IN PATIENT ADVOCACY GROUPS. AS FACULTY I WAS AWARDED FELLOWSHIP AND IT'S CONTINUED MY F.T.D. PROJECTS IN THE LAB AND WE WERE ABLE TO ACQUIRE NIH FUNDING BECAUSE OF HAVING GOTTEN DEVELOPED AT AN EARLY STAGE. I THINK IF THE NETWORKS WERE BUILT EARLY ENOUGH AS A YOUNG POST-DOC IT TRICKLES THROUGH. AS FACULTY WE REAP THE BENEFITS AND I'VE CONTINUED TO BE INVOLVE WITH F.T.D. AND OTHER GROUPS AND HALF IS LUCK I RAN INTO SUSAN AND IN A LAB THAT WAS INVESTED IN THE OUTREACH I THINK THAT HELP IN MY CASE. VERY FORTUNATE I THINK. >> I'M A HUMAN GENETICISTS. I ALWAYS FOUND IT FASCINATING. AS A GRADUATE STUDENT IN SOUTH AFRICA WE USED TO INTERACT QUITE A LOT WITH FAMILY. EARLY IN MY TRAINING I INTERACTED AND I INTERACTED WITH FAMILIES AND I ARRIVED IN THE USA WHEN NEXT-GENERATION SEQUENCING WAS TAKING OFF AND MY PLAN WAS TO LEARN NEXT-GEN SEQUENCING AND CHANGE THE WORLD IN SOUTH AFRICA. I WAS HERE ABOUT SIX MONTHS WHEN I REALIZED THAT WAS NOT GOING TO BE THE CASE BECAUSE FOR A COUPLE REASONS TWO MAIN REASONS. FIRST, I LOVED WORKING AT THE CUTTING EDGE OF RESEARCH IT WAS FUN AND FANTASTIC. IT WAS WHAT I WANTED TO DO. THE SECOND PART WAS GETTING INVOLVED WITH THE FAMILY FOUNDATIONS. I WAS FORTUNATE. I HAD A FANTASTIC MENTOR AS A POST-DOCTORAL FELLOW AND MY P.I. WAS FANTASTIC AND FROM AN EARLY STAGE I INTERACTED A LOT WITH FAMILY FOUNDATION AND THE FIRST EPILEPSY MEETING I WAS SURPRISED AND THEN GOT COMFORTABLE IN THE FIRST MEETING. FOR ME WHAT WAS MOTIVATING WAS MEETING THE PARENTS AND SUPER MOMS AND SUPER DAD. IT'S A REAL PHENOTYPE AND I RECOGNIZE MANY APEOPLE WITH THAT PHENOTYPE IN THIS ROOM. FOR ME MEETING THE FAMILIES AND THE CHILDREN WAS THE MOTIVATOR. PEOPLE WAS THE KEY FACTOR AND WE CANNOT DO ACADEMIC RESEARCH WITHOUT FUNDING AND I WAS FORTUNATE EARLY ON THEY GOT A POST-DOCTORAL FELLOWSHIP FROM THE EPILEPSY FOUNDATION AND IT ALLOWED ME TO EXPLORE MY OWN IDEAS AND WITH THE PRELIM I APPLIED TIE K99 A NIH CAREER TRANSITION AWARD AND AWARDED THAT AND TOWARDS THE END AND STARTED MY OWN PROGRAM AND LANDED A FACULTY JOB AND I'VE BIN MY POSITION TWO YEARS AND ONE IS THE AMERICAN EPILEPTIC SOCIETY SUPPORT MID -- SUPPORTED MY RESEARCH AND APPLIED FOR BIGGER FUND FROM THE NIH. I'LL ECHO WHAT TODD SAID. THE EARLY CAREER FUNDING GOT HE HERE AND I WAS DRAGGED TO ME MEETINGS EARLY ON AND IT WAS P.I. IF I CAN GIVE ONE BIT OF ADVICE TO THOSE HITTING HERE I'M SURE MANY HOST SIMILAR FOUNDATION EVENTS AND CONCURRENT MEETINGS AND I'M SURE MANY PEOPLE WHO COME TO THOSE ARE P.I.s AND WHOEVER COMES TO THOSE MEETINGS DRAG YOUR POST-DOC WITH YOU AND DON'T LET THEM SIT IN THE CORNER. THEY SIT IN THE CORNER AND SAY GOSH THE BIG PEOPLE ARE HERE. MAKE THEM INTERACT WITH THE PEOPLE THERE. IT WILL MAKE ALL THE DIFFERENCE. >> I'M ORIGINALLY FROM UKRAINE AND TRAINED IN APPLIED PHYSICS. I QUICKLY REALIZED IT'S VERY DIFFICULT TO MAKE MAJOR DISCOVERIES AND I REALIZED I NEEDED MORE TIME SO I SLOWLY TRANSITIONED INTO BIOPHYSIC AND THEN NEUROSCIENCE AND WHEN YOU'RE ENROLLED IN RESEARCH YOU ASK WHY DO WE DO WHAT WE DO AND THE PROBLEM AND THE GOAL OF THE RESEARCH? YOU START TO WORK WITH TURN YOU MODELS AND -- TISSUE MODEL AND DOESN'T HAVE MUCH OPPORTUNITY TO WORK WITH PATIENTS AND WE STARTED TO WORK WITH MATERIALS OBTAINED FROM PATIENTS WITH PHELAN-McDERMID SYNDROME AND I ATTENDED A FAMILY MEETING IN NEW YORK I GOT THE OPPORTUNITY TO LINK MY RESEARCH TO THE PROBLEMS PEOPLE EXPERIENCE IN REAL LIFE AND MAKE THIS CONNECTIONS WHATEVER WE DISCOVER IN THE LAB CAN BE POTENTIALLY APPLIED TO HELP THE PATIENTS. IT WAS TRANSFORMATIVE FOR ME. AND SO WILL THEY APPROACHED ME AND ASKED ABOUT THE PROJECTS AND WHAT IS NEW AND WHAT IS NEXT. I THINK IT GOT ME MORE INVOLVED. >> WHEN I WAS IN YEAR FIVE OF MY POST-DOCTORAL TRAINING I APPLIED FOR FUNDING TO SUPPORT SOME OF THE RESEARCH AND OBTAINED FUNDING FROM THE FOUNDATION AND IT WAS CO-FOUNDED AND IT HELP AND IT WAS A PROJECT AND PROVIDED MORE ME. >> AND WE NEED TO RAISE MONEY AND HOPEFULLY THAT'S SOMETHING WE CAN UNDERTAKE IN THE FUTURE. NEXT QUESTION FOR EACH OF YOU WHAT ARE THE BENEFITS OF BEING INVOLVED IN A PATIENT ADVOCACY GROUP AND YOU SPOKE ABOUT THE MOTIVATION THAT COMES THE PATIENTS AND THE OPPORTUNITY TO INTERACT WITH FAMILIES BUT WHAT ARE THE OTHER KINDS OF THINGS. TODD, YOU HAD TALKED ABOUT COMMUNITY ORGANIZATIONS YOU'RE INVOLVED WITH AND SERVING ON THEIR BOARDS. TELL US ABOUT THAT. >> ONE OF THE BENEFITS I DIDN'T ANTICIPATE WAS THIS LOCAL RALLYING AROUND DISEASES THAT YOU DON'T -- IT'S ALMOST LIKE YOU NEED A CRITICAL MASS. UNTIL THAT CRITICAL MASS IS REACHED LOOK LIKE THE ICE BUCKET CHALLENGE WITH ALS, IT SEEMS THERE'S SO MANY PEOPLE FIGHTING THIS DISEASE, JUST GET TOGETHER AND RAISE AWARENESS. SOME DON'T UNDERSTAND HOW ALS INITIALLY STARTS AND EXPLAINING THIS TO THE COMMUNITY HAS BEEN AN ENORMOUS OUTREACH EFFORT ON OUR PART. WE HAVE AN EASTERN NORTH CAROLINA CHAPTER FOR THE ALZHEIMER'S ASSOCIATION. WE GET TOGETHER AND BRAIN STORM IDEAS TO REACH THOSE RURAL AREAS THAT TYPICALLY ARE NOT FAMILIAR WITH HOW THE DISEASES START AND LET THEM KNOW, HEY, THERE'S AN ALZHEIMER'S LOG WHERE 25,000 PEOPLE ARE GOING TO BE AT THIS BALLPARK AND WE'LL ALL BE WALKING IN THE NAME ALZHEIMER'S DISEASE AND WE'LL TALK TO PEOPLE ABOUT EARLY CLINICAL SCIENCE ON ALZHEIMER'S DISEASE AND WHAT THE BRAIN OF AN ALZHEIMER'S PATIENT LOOKS LIKE. ONE THING WE'RE PROUD OF IS WE WERE ABLE TO USE THE CLARITY APPROACHES TO MAKE BRAINS TRANSLUCENT. I'M SURE YOU'VE SEEN CLARITY BECOME A NEW-AGE COLLEGE. -- TECHNOLOGY. AND WE'RE TAKING THESE OUTREACH EVENTS AND SHOWING PEOPLE WHAT A NORMAL BRAIN LOOKS LIKE AND WHAT A CLEARED BRAIN LOOKS LIKE AND LETTING THEM KNOW THIS CLARITY APPROACH WILL PROVIDE THE RESOLUTION TO SEE STRUCTURES AND PATHOLOGY WE HAVEN'T REALLY APPRECIATED BEFORE. I THINK THESE TYPES OF THINGS ARE SO VALUABLE BECAUSE I DON'T THINK I APPRECIATE THE COMMUNITY DIDN'T QUITE GET -- THE COMMUNITY DOESN'T QUITE UNDERSTAND EARLY SIGNS, MOLECULAR SIGNS. THEY'RE ALL THINGS WE TAKE FOR GRANTED AS SCIENTISTS. AND GETTING OUT THERE AND GETTING INVOLVED IN EVENTS HAS CONNECTED ME TO THE FACES AS OPPOSED TO USING A PIECE OF TISSUE, FOR EXAMPLE IN THE LAB. >> THE WORK WITH PATIENT-DERIVED STEM CELLS AND NEURONS AND ONE OF OUR COLLABORATORS WENT TO THE MEETING AND HE PARTICIPATED IN RECRUITING PATIENTS. I KNOW MANY FAMILIES DONATED BLOOD AND SAMPLES AND IT CONTRIBUTED TO THE INCREASED NUMBER OF MATERIALS IN BIOBANKS AVAILABLE THROUGH NIH AND ALSO I THINK JUST TO ADD, I THINK IT'S HELP ME TO KIND OF UNDERSTAND THE PROBLEM BETTER. WE HAVE GENERAL DESCRIPTION OF THE PROBLEM AND IT'S AUTISM IN 70% OF THE KIDS. WHEN YOU GO TO THE MEETINGS YOU START SEEING DIFFERENT FAMILIES AND YOU SEE DIFFERENT KIDS HAVE NOT SUBSTANTIALLY DIFFERENT BUT SLIGHTLY DIFFERENT PHENOTYPE. FOR EXAMPLE, MANY INDIVIDUALS WITH THE PHELAN-McDERMID SYNDROME HAVE SEIZURES AND YOU THINK WHAT COULD BE THE POTENTIAL MECHANISM FOR EPILEPSY AND BROADLY IF YOU LOSE A PROTEIN AND IT CAN CONTRIBUTE TO pYOU START CONNECTING THE DOTS AND START LINKING YOUR OBSERVATIONS OBTAINED IN RESEARCH TO THE PROBLEMS THE PATIENTS EXPERIENCE. >> SO WHAT ARE SOME OF THE LOW-COST WAYS WE CAN SORT OF FOSTER THE INVOLVEMENT AND ENTHUSIASM OF YOUNG INVESTIGATORS? >> MANY GROUPS TAG ON TO THE ANNUAL MEETINGS AND AT DINNERS OR LUNCHES AND WAYS TO BRING IN YOUNG INVESTIGATORS AND MANY P.I.s AND THEY BRING POST-DOCS AND DOING SMALL POSTER SESSIONS. IT MAY BE A WAY TO BRING IN SPECIALTIES AND SOMEONE MAY FIGURE OUT A COOL WAY TO LOOK AT THE INSIDE OF NEURONS THAT MAY BE TANGENTIALLY RELATED TO EPILEPSY OR SOMETHING BUT HAVING A BROAD FORUM WHERE PEOPLE BRING POSTERS THEY'LL PROBABLY PRESENT AT AN ANNUAL MEETING ANYWAY TO A SMALL FAMILY FOUNDATION AND TALK ABOUT THEIR AND PEOPLE BEGIN TO CONNECT THE DOTS AND SAY I HAVE THIS COOL TECHNIQUE. MAYBE YOU CAN USE IT TO STUDY THIS FACET OF A PHENOTYPE WITHIN THE DISORDER YOU'RE VERY MUCH INTERESTED IN. >> ONE WAY IS TO HAVE A POSTER SESSION AND PROVIDE TRAVEL FUNDS FOR THE YOUNG INVESTIGATORS TRYING TO PRESENT POSTERS. WE ALSO FUNDED THEM TO GO TO LARGER MEETINGS AND PRESENT THEIR WORK AT THE LARGER MEETINGS. WE'VE DONE A LITTLE POSTER AWARD OR TOP POSTER AT OUR MEETING AND THEY GET A PRIZE AND THAT'S ALWAYS KIND OF FUN. THOSE ARE IDEAS TO LEVERAGE THE POSTER CONCEPT. TALK TO US HOW TO SUPPORT INITIATIVES ON THIS LINE. >> I WAS SURPRISED THE IDEA TOOK OFF. WE WERE ABLE TO ORGANIZE A NEUROSCIENCE PEER REVIEW GROUP WHERE PEOPLE WITH COMMON INTEREST COME TOGETHER IN A ROOM AND HELP EVALUATE PEOPLE'S GRANTS. IT'S CAUGHT ON LIKE WILDFIRE. THERE'S A SUPPORT NETWORK THAT TENDS TO BE MISSING IN ACADEMIA WHERE YOU'RE THROWN IN YOUR NEW LAB AND ASKED TO BUILD AND HIRE AND DO THE DIFFICULT THINGS AND WHAT THEY OFTEN FAIL TO TEACH YOU IS HOW TO WRITE A REALLY GOOD GRANT AND GET FEEDBACK THAT'S HONEST. FEEDBACK THAT'S MEANINGFUL WITH LOTS OF RED Xs. USUALLY THAT'S WHAT PEOPLE DON'T WANT TO GIVE YOU BUT YOU NEED THAT IN ORDER TO IMPROVE. SO WE STRUCTURED A NEUROSCIENCE PEER REVIEW GROUP I THINK WOULD BE GREAT TO SOMEHOW INVOLVE NONPROFITS AND INVOLVE PEOPLE AND MAYBE THE GRANT IS A PERFECT FTD GRANT AND MAYBE WE SHOULD SUBMIT IT AS SUCH OR MAYBE THIS IS A GREAT ALS GRANT. I THINK THAT'S BEEN VALUABLE AND THERE SEEMS TO BE A COMMUNITY AND E-MAIL IS BECOME NIGHTMARE. 30, 000, 40,000 E-MAILS SITTING THERE. FINDING OTHER WAYS TO COMMUNITY IS NOW SUPER IMPORTANT AND SO THINGS LIKE TWITTER AND FACEBOOK AND THESE OTHER WAYS TO GET TO PEOPLE BECAUSE I'M NOTICING THAT E-MAIL IS NOT WORKING AS WELL AS IT MAY HAVE WORKED BACK IN THE DAY. SO I THINK WE MIGHT HAVE TO EXPLORE MORE CREATIVE IDEAS HOW TO DISSEMINATE INFORMATION ABOUT NON-PROFITS AND ALSO FUNDING MECHANISMS PEOPLE ARE JUST NOT ON PEOPLE'S RADAR. >> AND WE HAVE SOME DATA ON THE PROBLEM AND FOSTER NEXT SCIENTISTS AND ALSO HELP THEM REFINE THE PROJECT AND MAYBE HELP THEM TO UNDERSTAND CERTAIN PROBLEMS THEY MAY NOT UNDERSTAND I THINK ALSO IT MAKES SEE TO SEE pPROBLEM TO BE MORE SPECIFIC TO THE POST-DOCS AND THEY HAVE EXTERNAL SUPPORT FOR THIS KIND OF RESEARCH. IF YOU'RE INTERESTED IN BRINGING NEW PEOPLE, IT MAKES SENSE TO TARGET AND ASK PEOPLE, WE HAVE THIS PROBLEM AND THIS IS OUR CALL NOR THE NEXT FIVE YEARS -- FOR THE NEXT FIVE YEARS, ARE YOU INTERESTED OR WOULD PEOPLE IN YOUR LAB BE INTERESTED AND THAT'S WHY THE PROJECT IS IMPORTANT. IF ARE ON THE SAME PAGE WITH A POST-DOC YOU CAN GET GOOD RESULTS. >> I HEAR YOU SAYING CULTIVATE RELATIONSHIPS WITH THE POST-DOCS WHO ALREADY HAVE FUNDING BECAUSE THEY ARE GAINING THAT VALUABLE EXPERIENCE. AND LABS USING APPROACHES THAT MAY BE APPLICABLE TO THE DISORDER. AN INDIVIDUAL WORKING THAT LAB MAY NOT BE THINKING ABOUT EPILEPSY. BUT IF YOU APPROACH THEM AND SAY THESE ARE THE KEY ISSUES WE RUN INTO THEY MAY BE APPLIED TO THE TOOL SET. >> I THINK HAVING JOINT PARTNERSHIPS IS ALSO SUPER HELPFUL. AN ADD, AFTD. IF YOU GO TO ONE WEBSITE AND SEE A SORT OF ADVERTISEMENT FOR A MECHANISM TO ENCOMPASS FOUNDATIONS IS SUPER HELPFUL BECAUSE A LOT OF THESE DISORDERS ARE ALONG A SPECTRUM AND HAVING FTD AND PLACES TO SEE POTENTIAL FUNDING MECHANISMS IS HELPFUL. >> GREAT POINT. ALEX MENTION HEAD WAS COFUND THE AUTISM SCIENCE FOUNDATION. IT WAS A WONDERFUL OPPORTUNITY FOR US. WE'D NOT HAD ENOUGH FUNDS ON OUR OWN TO FUND A FELLOWSHIP BUT WE WERE ABLE TO SCRAPE UP ENOUGH FUNDS IT ENDED UP BEING A NICE FELLOWSHIP. WE WERE THANKFUL FOR THAT PARTNERSHIP AND GOOD FOR US TO HAVE ORGANIZATION TO PARTNER WITH TO CO-FUND YOUNG INVESTIGATORS. OKAY. SO THE LAST QUESTION AND THIS IS A QUESTION I'VE BEEN WONDERING ABOUT, WHEN WE'RE ABOUT TO AWARD A FELLOWSHIP AS A SMALL RARE DISEASE GROUP NOT A BUCKET OF MONEY OR ANYTHING LIKE THAT, WE WANT TO ENSURE WE'RE FUNDING SOMEBODY WHO'S GOING TO STICK AROUND AND CONTRIBUTE TO OUR FILED AND BE PRODUCTIVE AND COMMITTED TO SAYING IN THIS AREA. HOW CAN NON-PROFIT GROUPS FIND THE YOUNG BEST INVESTIGATORS THAT WILL BE COMMITTED TO THEIR DISEASE? >> AS SCIENTISTS WE'RE TAUGHT TO WRITE FELLOWSHIPS AND ALMOST SELL IT. WHAT WE'RE NOT NECESSARILY TAUGHT IS HOW TO TELL A FUNDING AGENCY WHO YOU ARE AND DOING SOMETHING LIKE ASKING FOR A GROUPS I WORK WITH ASK FOR E THOSE. AND WHY YOU WANT TO DO THE RESEARCH AND YOU CAN START TO GET A SENSE OF PEOPLE SAYING WHAT THEY THINK YOU WANT IT HEAR AND ANOTHER IDEA IS ASKING CANDIDATES NOWADAYS MOST POST-DOCS AND GRADUATE STUDENTS LIVE ON THEIR CELL PHONES AND INSTAGRAMING AND VIDEOING THEMSELVES SO ANOTHER WAY IS TO ASK THEM TO SUBMIT A SHORT FIVE-MINUTE VIDEO OF GOING THIS IS WHO I AM AND WHY I ENJOY THIS AND MAKE IT FUN AND INTERACTIVE. THREW CAN ALSO GET A -- THREW -- THERE YOU CAN ALSO GET A SENSE OF WHO THEY ARE. THAT COULD BE A NEAT WAY AND KIND OF FUN WAY. GRANT REVIEW CAN SOMETIMES GET TEDIOUS. IT WOULD BE FUN TO DO THE SCIENCE STUFF AND THEN WATCH THE VIDEO. >> IT'S GOOD TO GO TO THE MAJOR MEETINGS WITH THE SOCIETY OF HUMAN SCIENCE AND OTHER MEETINGS AND SEE THE POSTERS RELATED TO THE GENE YOU'RE INTERESTED IN AND IN HAND AND GO TO THE POSTERS AND SEE WHAT THEY THINK WITH THE RESEARCH OR NEXT EXPERIMENTS AND WHAT IS THE NEXT PROBLEM THEY WANT TO SOLVE AND MAKE YOUR IMPRESSION BASED ON THE PERSONAL INTERACTION. I OFTEN WHEN I GO I RAN A SEARCH FOR SHANK 3 AND HAVE ALL THE POSTERS AND SEE WHAT PEOPLE PRESENT. THEY SHOULD GO AND TALK TO PEOPLE AND SEE WHAT PEOPLE THINK AND WHERE THEY GO WITH THEIR RESEARCH. >> BEFORE WE OPEN IT UP TO QUESTIONS AND ANSWERS WE HAVE A SHORT VIDEO CLIP FROM JEN FROM THE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE >> I'M JEN. I TREAT PATIENTS WITH HYDROCEPHALUS, SPINAL FIF DA AND HAVE A RESEARCH -- BIFIDA AND I HAVE A RESEARCH LAB. WHAT INSPIRED ME TO PURSUE RESEARCH AS A CAREER AS A PEDIATRIC SURGEON. I MET A GIRL WITH BLEEDING IN THE BRAIN AND AT RISK FOR HYDROCEPHALUS IT'S THE MOST CMMON CONDITION I TREAT AS A PEDIATRIC NEUROSURGEON. I DECIDED TO PURSUE MY AREA OF RESEARCH BECAUSE WE CURRENTLY HAVE NO TREATMENTS FOR BLEEDING IN THE BRAIN. UNDERSTANDING HOW HYDROCEPHALUS WE'LL HOPEFULLY BE ABLE TO CREATE TREATMENTS TO PREVENT IT IN THE FUTURE. THE ADVICE I'D GIVE TO THE NEXT GENERATION IS TO FIND AN AREA THAT YOU'RE PASSIONATE ABOUT AND MOTIVATES YOU AND COMBINE THIS WITH IDENTIFYING AN AREA WITH AN UNMET NEED. IN DOING SO YOU'LL BE ABLE TO ASK THE RIGHT QUESTION TO RESULT IN THE CONVIENENCEMENT OF -- VANCE -- ADVANCEMENT OF THAT FIELD. >> I'M SURE YOU HAVE GREAT IDEAS IN WAYS YOU HELP BRING NEW YOUNG INVESTIGATORS IN YOUR FIELD AND WOULD LOVE TO HEAR THEM AND YOUR QUESTIONS AS WELL. >> WE ALSO HOST A RECEPTION SPECIFICALLY FOR THE SENIOR INVESTIGATORS TO MEET THE MORE SENIOR INVESTIGATORS SO THEY CAN INTERACT AND IT GIVES THEM AN OPPORTUNITY TO RUB SHOULDERS WITH THOSE IN THE FIELD AND THEY CONTINUE TO WANT TO FOSTER THEM IN THE FIELD. WHEN THERE'S OPENINGS IN LABS WE ACT AS A WAY TO GET THE JOB OPENINGS OUT TO THE YOUNG INVESTIGATORS TO KEEP THEM IN THE FIELD. THE CHALLENGE YOU CAN SUPPORT A CLINICAL FELLOWSHIP BUT YOU HAVE TO KEEP THEM IN THE FIELD. THAT MEANS MONEY. THAT MEANS GOOD SCIENCE. THOSE RELATIONSHIPS HELP. >> I LOVE THE MATCH MAKING CONCEPT OF PUBLICIZING THE JOB OPPORTUNITIES. >> SOME DON'T HAVE THE MONEY TO SUPPORT IT BUT EVEN SUPPORTING THE TRAVEL AND SOMEONE AGREED TO COME TO THE ANNUAL MEETING AND WAS STARTING TO GET TRAVEL AWARDS WHERE SOMEONE WANT TO LEARN ABOUT MASS SPECT. IF SOMEONE WANTS TO GO TO JACKSON LAB AND LEARN ABOUT ANIMAL MODELS AND THEY CAN APPLY FOR THE TRAINING THEY NEED AND IT'S SMALLER AMOUNT OF MONIES BUT IT MAY HELP A TRAINEE. >> DO YOU HAVE AN OPEN OPPORTUNITY FOR PEOPLE TO APPLY FOR TRAVEL AWARDS? >> WE OFFER DIFFERENT TRAVEL AWARDS. ONE IS SUBMITTING FOR THE ABSTRACT AWARDS. THERE'S A SPECIFIC INTEREST IN WOMEN AND EPILEPSY AND OUT OF THE ABSTRACT EACH YEAR THEY HELP SELECT THEY GIVE THE AWARD AND HAVE A RECEPTION AT THE ANNUAL MEETING. THAT'S ONE WAY. THE OTHER BROADLY FOR ANYBODY TO SUBMIT IS PART OF THE CAREER FELLOWSHIPS AND IF SOMEONE IS SELECTED THEY CAN APPLY FOR ADDITIONAL SUPPLEMENTARY SUPPORT FOR WHATEVER TRAINING IS HELPFUL FOR THEIR CAREER BECAUSE WE HAVE EVERYBODY FROM CLINICAL RESEARCH THROUGH BASIC SCIENTISTS SO WE DON'T HAVE MONEY FOR ALL THOSE AWARDEE TO GET TRAVEL SUPPORT BUT WE HAVE FOR SOME. IT'S A LOWER COST WAY TO GIVE PEOPLE ADDITIONAL TRAINING AND DIRECTION TO THE PATIENT ADVOCACY GROUPS. >> WE'VE DONE SMALLER TRAVEL AWARDS AND FOR US EVEN $500 THAT'S GREAT FOR A POST-DOC. $1,000 EVEN BETTER IS TRAVEL BOTH WAYS AND MAYBE A HOTEL ROOM. $500 THEY'RE STILL SLEEPING ON SOMEBODY'S FLOOR. >> YOU HAVE SPOKEN A LOT ABOUT POST-DOCS AND WONDERING IF THERE'S ORGANIZATIONS YOU'RE FAMILIAR WITH OR OTHERS IN THE ROOM WITH PROGRAMS FOR NEWLY INDEPENDENT INVESTIGATORS. >> THE QUESTION IS WE'VE SPOKEN A LOT ABOUT POST-DOC OPPORTUNITIES. WHAT ABOUT PROGRAMS AVAILABLE FOR NEW YOUNG INVESTIGATORS? AND THEY TEND TO BE INSTITUTION SPECIFIC OR A LOT OF TIMES pTHERE'S EVENTS AT CONFERENCES THAT TEND TO HIGHLIGHT JUNIOR INVESTIGATORS AND HOW TO NETWORK WITH OTHER PEOPLE AND HOW TO RUN A LAP AND SET UP BUDGETS. ALL THE THINGS YOU'RE NEVER TAUGHT AS A POST-DOC. I KNOW SFN TENDS TO ORGANIZE ONE THOSE. I ALSO HAD A FOUNDATION FELLOW. THAT ADDRESSED CONCERNS YOUNG INVESTIGATORS HAVE WHEN START LAB. I THINK THEY'RE OUT THERE. MAYBE THERE'S A LITTLE MORE HIDDEN THAN WE'D LIKE BUT THEY'RE ALSO INSTITUTION SPECIFIC IN MY CASE. >> AND MAYBE I'LL STEAL SOME THUNDER HERE BUT THE AMERICAN EP EPILEPTIC SOCIETY SUPPORTS INVESTIGATORS AND JUST FACULTY POSITION SO WITHIN THE FIRST TWO TO THREE YEARS TO APPLY FOR FUNDING. I KNOW THE AMERICAN EPILEPTIC SOCIETY DOES THAT. SO THERE'S FOUNDATIONS AND THEY'RE FANTASTIC FOR YOUNG INVESTIGATORS. I CAN SAY FOR SURE IT HELPS A LOT. COMING IN AND START NEW LAB YOU HAVE SO IN IDEAS AND YOU HAVE YOUR START-UP PACKAGE BUT AT THE SAME TIME IT'S GREAT TO GET FNDING AND HELPS IN TERMS OF SECURE FUNDINGS. >> YOU MENTIONED SEED GRANTS. MAYBE TALK ABOUT THE VALUE OF THOSE. >> SO SEED GRANTS, MY FIRST YEAR AS A JUNIOR FACULTY AND THERE'S A NEW GENETIC MECHANISM. THERE WAS A BRAND NEW PROJECT AND NOTHING WAS KNOWN ABOUT IT. I APPLIED TO ADS WHO SUPPORT MID JUNIOR INVESTIGATOR AWARD. AND THE PROJECT WENT WELL AND WE GOT GREAT PRELIM DATA AND A WENT ON TO SUBMIT IT FOR A BIGGER RESEARCH AWARD AND THERE'S A FOUNDATION NOW SUPPORTING THAT FOR TWO YEARS AND WE'RE WORKING TOWARDS DATA AND THE PLAN STO SUBMIT AN RO1 IN THE NEXT COUPLE YEARS FOR THAT. THE SEED FUNDS ARE KEY FOR GETTING THESE SMALL CRAZY IDEAS UP AND OFF THE GROUND. >> IN TERMS OF INTERACTION WITH FAMILIES AND HAVING RESEARCHERS AT THE FAMILY MEETINGS, EATING WITH THE FAMILIES, BEING WITH THE FAMILIES ORGANIZING WHERE THE RESEARCHERS ALL SAT WITH THE FAMILIES THROUGHOUT THE LECTURES. ALSO, IT'S FRE TO -- FREE TO SEND A THANK YOU NOTE TO YOUNG pINVESTIGATORS FOR ACKNOWLEDGE PUBLICATION. EVEN IF YOU PAID THEIR WAY TO THE CONFERENCE THEY STILL LEFT THEIR FAMILY AND FRIENDS WHEN THEY LEFT THEIR LAB AND I ALWAYS HAD A PICTURE OF MY KID IN THE THANK YOU NOTE. THE MORE YOU MAKE IT PERSONAL FOR THOSE WHO IN THE BUILDING WRITING GRANTS AT MIDNIGHT NOT GETTING ACCESS TO FAMILIES WHERE FAMILIES DON'T REALIZE THEY'RE WRITING GRANTS ALL NIGHT TO HELP THEIR KIDS. ARE THERE ISSUES TO GETTING LOIs FROM FOUNDATIONS. >> LETTER OF SUPPORT? >> YES. >> I NO PROBLEM GETTING LETTER OF SUPPORT. I ALWAYS SUBMIT LETTER OF SUPPORT WITH MY APPLICATION. >> IF YOU'RE WORK THE RESEARCH TEAM AND HAVE IDENTIFIED A PROBLEM AREA THAT NEEDS TO BE ADDRESSED IN YOUR FIELD I THINK IT'S A GREAT IDEA TO INCLUDE A LETTER OF SUPPORT AND EVEN BETTER IF YOU'RE PROVIDING A LITTLE BIT OF FUNDING OR SHARING DATA FROM YOUR REGISTRY FOR SUPPORTING IN OTHER WAYS. . >> A COMMENT VERY BRIEFLY. AS ALL OF YOU KNOW WITHOUT ANY QUESTION, WHEN AN APPLICATION GETS SUBMITTED TO THE NIH, IT GOES THROUGH PEER REVIEW. AND THE PEERS ARE TYPICALLY WITH SOME EXCEPTIONS FOR CERTAIN MECHANISMS THEY'RE SCIENTIFIC PEERS. IT GETS JUDGED ON THE BASIS OF SCIENCE BUT THERE'S A CATEGORY IN THE EVALUATION THAT'S CALLED SIGNIFICANCE AND IF A FOUNDATION OR A NON-PROFIT CAN ATTEST TO THE SIGNIFICANCE OF THIS WORK RELATIVE TO THE REAL-LIFE, REAL-WORLD PROBLEMS THE PATIENTS FACE, THEN THAT MAY WELL SPEAK TO SIGNIFICANCE. SO IN THAT SENSE, IT WILL BE TAKEN INTO CONSIDERATION. >> THANK YOU. >> LAST QUESTION. >> HI. MY NAME IS AMBER FREEDA AND I HAVE A BIT OF INFORMATION ABOUT JENNA BECAUSE SHE FOUND OUR GENE. SO IN OUR SITUATION WE'VE ONLY BEEN ON TESTING PANELS SINCE 2017. AND OUR PATIENT ORGANIZATION IS YOUNG. WE'VE BEEN TOGETHER ABOUT A YEAR NOW. AND THE PROBLEM WE'RE FACING IS GETTING OUR NAME OUT THERE SO YOU GUYS KNOW WE EXIST AND WE WANT TO DO RESEARCH IN WHAT WE'RE DOING. AND I THOUGHT THAT DR. COHEN'S POINT ABOUT E-MAIL DOESN'T WORK SO WELL, IT DOESN'T. WHAT ADVICE WOULD YOU OFFER ME? > SO SOMETHING I'VE SEEN A COUPLE OF RESEARCHERS DO, WHICH I THINK IS REALLY COOL AND A GOOD IDEA IS CONNECTING WITH THE BIG TESTING COMPANIES. GENES LIKE VX AND WHAT COLLEAGUES HAVE DONE IS PUT TOGETHERFULLIE TOGETHERFULLIERS -- TOGETHER FLYERS THAT ADVERTISE THEIR RESEARCH. IF YOU CONTACT THE COMMERCIAL COMPANY AND SAY I HAVE THIS RESEARCH PROJECT ON CHD2 AND RECRUITING PATIENT AND INTERESTED IN STEM CELL BIOLOGY, WHEN THEY GET POSITIVE RESULT THEY SEND IT OUT AND THE FLYER AS WELL. SO I KNOW THEY DO THIS FOR SEVERAL RESEARCH STUDIES. AND IT'S WORTH REACHING OUT TO THOSE BIG COMMERCIAL COMPANIES AND ASKING WHAT IS THE PROTOCOL AND HOW DO I PUT MY DETAILS IN FOR PEOPLE TO CONTACT ME DIRECTLY IF I HAVE A MUTATION IN THIS PARTICULAR GENE. >> I'LL ADD THAT SOMETIMES HAVING AN ADVOCATE AT A CERTAIN PLACE AND MAKING THAT CONNECT IF YOU THINK THERE'S PEOPLE THAT COULD POTENTIALLY WORK ON THIS HAVING THE ONE PERSON BE YOUR DISSEMINATION POINT COULD CERTAINLY HELP. AND THOSE WHO WORK ON RARE DISEASES AND IT'S ON EVERYONE'S RADAR AND DISEASES I WAS NOT FAMILIAR WITH AND THESE WERE NOT ON PEOPLE'S RADAR. SOMETIMES THERE NEEDS TO BE A CRITICAL MASS AND WHETHER THERE'S A CONNECTION OR LINK TIE POTENTIAL INSTITUTION OR SOME OTHER WAY TO GET IN THERE IT SEEMS TO BE POTENTIALLY HELPFUL. >> I'LL CALL MEGAN OUT. YOU MENTIONED SENDING THANK YOU NOTES AND NOTES TO RESEARCHERS. SHE DIDN'T SAY AND SHE SENDS T-SHIRT TO EVERYBODY. SO WE HAVE A CRAZY RED T-SHIRT AND THE PHELAN-McDERMID SYNDROME AND MEGAN HAS SENT EVERYONE IN OUR FIELD WITH A T-SHIRT SO GET ONE AND SEND IT OUT. I'LL JUST SAYING GOING MEETINGS, OUR FIRST REAL INITIATIVE TO BRING TOGETHER OUR SCIENTIFIC COMMUNITY WAS A SYMPOSIUM I ORGANIZED AND IT WAS A GREAT WAY TO START AND IT TAKE MONEY BUT YOU CAN BRING TOGETHER THE RIGHT PEOPLE AND FROM THERE I THINK THE FIELD WAS ENERGIZED AND THINGS FELL IN PLACE ONCE WE HAD THE FIRST SYMPOSIUM. FOR US IT WAS HELPFUL. I'M SURE IN TALKING TO OTHER GROUPS YOU'LL HEAR THEIR STORIES AND IDEAS. >> IF YOU'RE GOOD AT SOCIAL MEDIA I HEARD ABOUT ANOTHER YOUNG GROUP AND THEY KEPT BEING TOLD BY RESEARCHERS THEY NEEDED FAMILIES TO DO VIDEOS AND THEY FLOODED SOCIAL MEDIA WITH WE NEED A MASK AND THEY TAGGED JACKSON LABS IN EVERYTHING THEY DID AND GOT A CALL FROM JACKSON LABS AND THEY SAID WE'LL GET YOU A MASK. IT WAS A FUN THING TO INVOLVE THE FAMILIES IN BUT THEY HAD GOOD MANAGEMENT OF SOCIAL MEDIA. THEY GOT A LOT OF P.R. OUT OF IT. >> I COULDN'T SAY ENOUGH ABOUT GETTING YOUR PEOPLE TOGETHER SMALL IT APPEARS TO BE NOW FOR THE FIRST TIME IT'S BEEN MONUMENTALLY IMPORTANT. FIRST TIME WE GOT A FIELD TOGETHER THE COMMON GROUND WAS THEY CAN ALL SPELL OUR DISEASE. ALL BUT ONE COULD SPELL OUR DISEASE. THERE WERE ONLY 65 OF THEM FROM AROUND THE WORLD TO JOIN 15 AT THE NIH THAT COULD ALSO SPELL THE TYPE OF ATAXIA AND WE'LL HAVE THE SEVENTH ONE IN NOVEMBER AND IT WILL BE 450. IT ALL BEGAN ALONG WITH THE COLLABORATION THAT'S BEEN THE HALLMARK OF OUR COMMUNITY AT THE FIRST MEETING. AND THAT MEETING WAS SUPPORTED AND WE GOT AN NIH WORKSHOP GRANT TO PAY FOR THE WHOLE MEETING AND IT'S AN R13 WORKSHOP GRANT. I'D HIGHLY RECOMMEND LOOKING INTO THAT TO HELP SUPPORT YOUR FIRST INTERNATIONAL SCIENTIFIC CONFERENCE. >> I ALSO APPLIED AND IT WAS A SOUL-CRUSHING DEFEAT IN A BUCKET OF TEARS FOR ME BUT IT'S WORTH EXPLORING AND PARTNERING IN HELPING WRITE THE APPLICATION AND PCORI HAS AWARDS FOR CONFERENCES. YOU MIGHT LOOK AT THOSE AS WELL. I DON'T KNOW HOW LONG PCORI WILL CONTINUE TO GET FUNDED. >> THANK YOU TO OUR PANELISTS. ARE WE TAKING A 15-MINUTE BREAK? >> THIS PANEL IS ON NEUROETHICS AND BIOETHICS AND WE HAVE TWO MODERATOR. DR. FURMAN IS VICE PRESIDENT FOR RESEARCH AND NEW THERAPIES AT THE EPILEPSY FOUNDATION AND DIRECTS NEW THERAPIES GRANT AND INNOVATION PROGRAMS AND THE RESEARCH ROUNDTABLE IN EPILEPSY. THE EPILEPSY PIPELINE CONFERENCES AND FOUNDATION ACTIVITY TO ENCOURAGE PATIENT INVOLVEMENT IN THE RESEARCH PROCESS. BRANDY IS PRINCIPLE INVESTIGATOR OF THE RARE EPILEPSY NETWORK AND EPILEPSY LEARNING HEALTH CARE SYSTEM AND THE HUMAN EPILEPSY PROJECT. SHE PREVIOUSLY SERVED AS A PROGRAM DIRECTOR AND DIRECTED PROGRAMS INCLUDING CENTERS THE WALS PROGRAM AND THE COMMON DATA ELEMENTS FOR EPILEPSY AND CURING ESPECIALLY SI CONFERENCES -- EPILEPSY CONFERENCES AND RESOURCED HER Ph.D. FROM THE PENN STATE UNIVERSITY COLLEGE OF MEDICINE AND DR. CARLA RAMOS IS THE DIRECTOR OF THE NEUROETHIC PROGRAM AND HEALTH SCIENCE ADMINISTRATOR IN THE OFFICE OF SCIENTIFIC LIAISON AT NINDS AND LEADS EFFORTS TO INTEGRATE NEUROETHICS INTO TO THE NIH BRAIN EXECUTIVE AND IS THE SECRETARY OF THE NEUROETHICS WORK GROUP OF THE NIH MULTICOUNCIL GROUP AND CO-LEAD OF THE TRANS NIH NEUROETHICS PROJECT TEAM. AND NINDS SHE PROMOTES RESEARCH ADVANCES AN INITIATIVES TO AUDIENCES INCLUDING IN SCIENTIFIC AND ACADEMIC COMMUNITIES AND KEEPS US THINKING ABOUT THE ETHICAL IMPLICATIONS OF THE INITIATIVES WE UNDERTAKE. WELCOME AND THANK YOU. >> I'D LIKE TO START BY SHARING HISTORY WITH YOU. MY INTEREST IN NEUROEDGE INNINGS -- NEUROETHICS CAME IN 2001 AND I HAD THE OPPORTUNITY TO ROTATE THROUGH THE NATIONAL GENOME RESEARCH OFFICE ON ETHICAL, LEGAL AND SOCIAL IMPLICATIONS. AT THE TIME I STARTED TO APPLY THE PRINCIPLES TO THE THINGS I KNOW ARE HAPPENING AND WILL BE HAPPENING IN NEUROSCIENCE. IN 2002 THERE WAS A CONFERENCE HOSTED BY THE DANA FOUNDATION CALLED NEUROETHICS MAPPING THE FIELD. I WAS UNFORTUNATE TO BE A FLY IN THAT AUDIENCE. I HAVE THE BOOK. AS A ROOM FOOL TO SEE -- A ROOMFUL OF GREATS IN THE ROOM TO PUSH FORWARD SO THE SCIENCE DOESN'T GET AHEAD OF THE REST OF US. AND SAID THEY WON'T HAVE AN OFFICE OF NEUROETHICS AND WE HAVE THE BRAIN INITIATIVE AND THOSE WHO THOUGHT ABOUT IT THROUGH AND WE HAVE COME A LONG WAY. AND IT'S A MUCH MORE PROACTIVE EFFORT IN ETHICS AND IF YOU THINK BACK TO THE DAYS OF STEM CELLS AND THE CONTROVERSY THERE WAS A REACTION TO WHAT WAS HAPPENING IN THE SCIENCE. AND MAKING SURE WE'RE REPAIRED FOR THE NEW -- PREPARED FOR NEW TECHNOLOGIES. WE MADE SHIFTS IN THE AGENDA. WE ASKED DR. RAMOS TO GIVE MORE OF A SPEAKER'S ROLE AND THE WORK ASSOCIATED WITH THAT AND WE ARE GOING TO BE HEARING FROM DR. KABU AND DR. KIM WITH THE DIVISION OF NEUROETHICS INTENDED TO BE HERE WITH US AND WAS UNFORTUNATELY STUCK IN DEN BER. SO WE WILL -- DENVER AND SO WE WILL NOT HEAR ABOUT HI WORK ON IMPLICATIONS OF IMPAIRED DECISION MAKING AND HOW THAT IMPACTS FAMILIES PARTICIPATING IN RESEARCH. HE SENDS US HIS BEST AND WISHES HE WAS HERE WITH US TODAY BUT THANK YOU DR. RAMOS FOR STEPPING IN. >> I DIDN'T REALIZE YOU WERE AT THE MEETING AND I WAS EXCITED TO HEAR ABOUT THE PANEL. IT'S THE FIRST TIME THERE WAS A PANEL ON THIS PARTICULAR TOPIC. IT'S GREAT TIMING BECAUSE AT THIS MOMENT THERE'S MOMENTUM AROUND OUR ETHICS HAPPENING WITHIN LARGER INITIATIVES AROUND THE WORLD. I CAME FROM A MEETING IN SWEDEN GATHERING PEOPLE FROM SEVERAL NATIONAL BRAIN PROJECTS THINKING ABOUT ETHICS AND HOW TO MOVE FORWARD WITH INTEGRATING EDGE INNINGS INTO THOSE PROJECT. I WANT TO TAKE A FEW MINUTES TO SET THE STAGE AND FRAME SOME CONCEPTS HERE. I BELIEVE NEUROETHICS IS AN ESSENTIAL PARTNER TO NEUROSCIENCE AND I HOPE YOU'LL SEE HOW THEY CAN ENSURE NEUROSCIENCE RESEARCH IS LINED WITH INTERESTS OF PATIENTS. I HAVE THIS DIAGRAM I SHARED WITH GROUPS BEFORE TO HELP US THINK WITH THE CONCEPTS. NOTE THERE'S OVERLAP BETWEEN THE CONCEPT AND THERE COULD BE DEBATE ON WHERE TO CATEGORIZE AN ETHICAL QUESTION AND I STILL FIND IT HELPFUL TO WALK THROUGH. RESEARCH ETHICS GOVERN THE STANDARDS OF CONDUCT FOR SCIENTISTS SUCH AS AUTHORSHIP, GETTING APORTFOLIO FOR STUDIES FOR -- GETTING APPROVAL FOR STUDIES AND IRBs OR THE STUDIES FOR THE FDA, FOR INSTANCE, RELATED BUT DISTINCT IS THE IDEA. BIOETHICS REQUIRES DELIBERATION AND RESEARCH AND ANALYSIS TO INFORM DECISIONS LIKE FAIRNESS AND PARTICIPANTS AND BENEFICENCE AND THEY CAN HELP GUIDE PRACTICE AND RESEARCH AND INSTITUTIONS AND THE SOCIAL IMPACTS OF BIOMEDICINE. WHILE CERTAIN BIOETHICAL ISSUES OCCUR IN BIOMEDICINE, OTHERS EMERGE ANEW AS SCIENCE ADVANCES. AMONG COUNTER -- CURRENT TOPICS ARE GENE EDITING AND INTEREST IN SYNTHETIC BIOLOGY AND ISSUES RELATED TO CLINICAL RESEARCH AND CARE AND ISSUES RELATED TO RESEARCH WITH ANIMALS. SO RELATED BUT SEPARATE THERE'S A CONCERN WITH ETHICAL, WILLING OR SOCIETAL ISSUES ARISING FROM THE IMPLICATIONS OF NEUROSCIENCE AND TECHNOLOGIES IN A VARIETY OF CONTEXTS WHICH GO FROM MEDICAL PRACTICE TO RESEARCH TO COMMERCIAL ISSUES OR THINK ABOUT THE IMPACTS OF SOCIETY AT LARGE. >> THERE'S MANY ISSUES SUCH AS THE CONDUCT OF RESEARCH WITH ANIMALS AND DATA PRIVACY AND RISK MEDICATION AND ACCESS FOR AND OTHERS. BECAUSE THE BRAIN'S FUNCTION IS SO COMMITTED TO OUR INFORMATION OF WHOER TO NOTIONS OF RESPONSIBILITY AND PRIVACY AND AUTONOMY IT'S DISTINCT FROM THE BROADER TOPICS OF BIOETHICS AND THE MEETING BRANDY WAS TALKING ABOUT IS CONSIDERED TO BE THE STARTING POINT. IT'S A RELATIVELY NEW FIELD. AND LOOK AT NEUROETHICS AND NEUROSCIENCE RAISES UNIQUE ETHICAL QUESTIONS BEYOND TYPICAL BIOETHICS ISSUES. WHAT ARE THE LONG-TERM RESPONSIBILITIES OF RESEARCHERS AND FUNDERS TO PEOPLE WHO RECEIVE IMPLANTED NEURAL DEVICES. PARTICULARLY THOSE WITH FAVORABLE RESULTS. SAY YOU'RE IN A TRIAL FOR DBS HOW WILL YOUR CONTINUE TO ACCESS FOR THAT DEVICE BE FACILITATED? THAT INCLUDES THE COST OF MAINTAINING THE DEVICE, MAYBE ADDITIONAL SURGERIES TO REPLACE THE BATTERY, THINGS LIKE THAT AND SOMETHING WE THINK ABOUT IN THE CONTEXT OF THE BRAIN SNISHT AND IT'S NOT RESOLVED. ANOTHER QUESTION, WILL IMPROVED UNDERSTANDING AFFECT INSURANCE AND SAY WE HAVE A TEST THAT SAY YOU'LL DEVELOP DIM EN IS THAT IN 30 -- DEMENTIA IN PO 30 YEARS. WHO WOULD HAVE ACCESS AND MIGHT THERE BE IMPLICATIONS FOR YOUR ABILITY TO BE VIEWED AS COMPETENT TO MAKE DECISIONS WITHIN THE LEGAL SYSTEM. IT'S ALSO SOMETHING PEOPLE ARE ACTIVELY THINKING ABOUT. AND FINALLY, HOW MIGHT TECHNOLOGIES DISRUPT FUNDAMENTAL NOTIONS OF FREE WILL AND AGENCY AND WHAT BROADER IMPLICATIONS WOULD THERE BE FOR LEGAL POLICIES OR COMMERCIAL PROBLEMS. WHEN YOU START HAVING DEVICES THAT CAN AUTONOMOUSLY RECORD BRAIN FUNCTION IN REAL TIME PROVIDE STIMULATION TO CORRECT FOR INSTANCE A MOTOR DISORDER, YOU CAN IMAGINE A SITUATION WHERE IT MAY NOT BE SO OBVIOUS AND WHO IS MAKING DECISION ON HOW THE MOTOR OUTPUT IS CONTROLLED AND NOT TO SAY THERE'S NOT A DEVICE IN THIS TYPE OF PLACEBO TO CONTROL MOVEMENT DISORDER BUT IT'S IMPORTANT TO THINK THROUGH THE ETHICAL IMPLICATIONS AS THEY'RE BEING DESIGNED AND DEPLOYED. WE CAN HELP YOU ADDRESS THEM AND RAISE THESE IN POINTS OF CONVERSATION. I THINK NINA WAS GENEROUS TO SAY IN THE INTRODUCTION I'VE BEEN HEMP US HERE THINK ABOUT THAT AND I THINK THAT'S TRUE EVEN WITHIN THE FUNDING AGENCY THINKING ABOUT WHEN WE WRITE REQUEST FOR APPLICATION OR FUNDING OPPORTUNITIES HOI DO WE MAKE SURE THE ETHICAL CONDITIONS ARE FOLDED IN? WE THINK NEUROETHICS CAN SERVE AS A USEFUL TOOL TO FACILITATE NEUROSCIENCE. I WANTED TO MENTION THE BRAIN IS THE INITIATIVE AND IT'S A BIG EXCITING RESEARCH ENDEAVOR THAT'S GALVANIZED OUR FOCUS ON NEUROETHICS. THE GOAL OF THE INITIATIVE IS HOW IT PRODUCES PERCEPTION, COGNITION, EMOTION AND BEHAVIOR AND HOW DYSFUNCTION IN BRAIN CIRCUITS CAN CAUSE BRAIN DISEASE AND DISORDERS. IT'S GOT THIS FOCUS ON DEVELOPING AND USING CUTTING-EDGE TECHNOLOGY TO RECORD AND MODULATE BRAIN FUNCTION. THESE ARE TOOLS WE THINK WILL BE USING TO UNDERSTAND AT A BASIC BIOLOGY LEVEL HOW THE BRAIN WORK AND BE NIH WE WANT IT FOR PURPOSE OF DEBRIEFING HUMAN HEALTH AND WE HAVE PROJECTS FOCUSSED ON PARTICULAR DISORDERS AND LISTED ONES THAT ARE MOST RELEVANT TO NINDS. I SHOULD SAY NINDS IS ONE OF ONLY 10 INSTITUTES AND CENTERS PART OF THE BRAIN INITIATIVE BUT WE DO CO-LEAD WITH THE MENTAL HEALTH INSTITUTE. SOME PROJECTS WE FUNDED IS STIMULATI STIMULATION DEVICES FOR PARKINSON'S AND DEVELOPING FOR COGNITIVE IMPAIRMENT SOECH -- ASSOCIATED WITH INJURY AND EPILEPSY AND WE HAVE INVESTIGATORS LOOKING AT DEEP BRAIN STIMULATION AND POST-STROKE MOTOR RECOVERY. THE TOOLS NEED TO BE DEVELOPED AND DEPLOYED AND WE ANTICIPATE THEY'LL RAISE NEW NEUROETHICAL QUESTIONS AND WE BUILT A ROBUST COMPONENT OF THE BRAIN INITIATIVE. THAT'S SUMMARIZED IN THE SLIDE WHICH I WON'T GO OVER IN MUCH DETAIL BUT WE EMPHASIZE A PRO-ACTIVE APPROACH TO ETHICS RATHER THAN REACTIVE. WE'RE TRYING TO THINK OF WHERE THINGS ARE GOING AND INTEGRATE THOSE CONSIDERATIONS INTO DOES. WE THINK THIS HELPS ENSURE THE SCIENCE MOVES FORWARD IN A WAY THAT HOLDS TO THE HIGHEST ETHICAL STANDARDS AND AGAIN COMING BACK TO PATIENTS THAT SUPPORT HUMAN WELL BEING. THAT'S THE CORE OF WHAT WE'RE DOING HERE. SO LET'S SEE. WE HAVE VARIOUS COMPONENTS OF THE NEUROETHICS PROGRAM AND THE ONE I WANTED TO HIGHLIGHT IS WE HAVE A PORTFOLIO OF NEUROETHICS RESEARCH. WE HAVE CURRENTLY NINE RO1s AND AWARDED OUR FIRST GRANTS IN THE FALL OF 2017, FISCAL 2017. AND WE HAVE DR. KABUT WITH US ONE OF THE INITIAL GRANTEES. I'VE LIST THE GRANTS HERE. THIS IS THE FIRST ROUND OF AWARDS WE MADE AND WE MADE ANOTHER SET IN 2018. I THINK HOPEFULLY IF YOU JUST LOOK AT THE TITLES, YOU CAN GET A SENSE AGAIN THIS IS REALLY ABOUT CONNECTING BACK TO PATIENTS. SO CINDY'S GOING TO TALK ABOUT THE RESEARCH ON THE IMPORTANCE OF PATIENTS AND FAMILY MEMBER PERSPECTIVES REGARDING GOALS AND EXPECTATIONS FOR DEEP-BRAIN STIMULATION AND HOW THEY RELATE TO INFORMED CONSENT AND THE ASSESSMENT OF OUTCOMES. I THINK IT WILL BE AN INTERESTING EXAMPLE HOW THE NEUROETHICS RESEARCH RELATES TO CONNECTI CONNECTING NEUROSCIENCE TO PEOPLE. I THINK THAT'S ALL I HAVE. PLEASE FEEL FRE TO -- FREE TO COME UP AND ASK ME QUESTIONS IF YOU HAVE ANY AND WE HAVE GREAT INFORMATION ON OUR WEBSITE AS WELL. >> I'D LIKE TO INTRODUCE OUR CLINICAL NEUROPSYCHOLOGIST AT THE COLLEGE OF MEDICINE AT CASE WESTERN RESERVE UNIVERSITY. SHE'S WORKED EXTENSIVELY WITH FUNCTIONAL NEUROSURGERY TEAM AND HELP ESTABLISH INTERNATIONAL GUIDELINES IN THE FIELD OF NEUROMR NEUROMROJ -- NEUROMODULATION. >> THANK YOU FOR THE OPPORTUNITY TO SHARE SOME IDEAS. I WANT TO TELL YOU THEY LOVE THE FACT THIS IS A NON-PROFIT GROUP BECAUSE MY RESEARCH IS CLINICALLY BASED AND HIGHLY PRAGMATIC AND SYSTEMS DIRECTLY FROM THE PATIENTS AND STORIES THEY TELL ME AND THEIR NEEDS AS WELL AS THE FAMILY MEMBERS. I'M EXCITED TO HAVE THIS OPPORTUNITY TO SHARE SOME OF THIS WITH YOU. NOT EVERYBODY KNOWS WHAT NEUROPSY NEUROPSYCHOLOGY IS. I HAVE THE BEST JOB IN THE WORLD. >> IT'S AN INTERDISCIPLINARY FIELD THAT LOOKS AT BEHAVIOR AND BRAIN RELATIONSHIPS AND EXPERTISE IS IN ASSESSMENT AND MEASUREMENT. THAT'S THE SWEET SPOT. THE INTERSECTION OF ALL THOSE DIAGRAMS THERE. IT'S INTERESTING BECAUSE IT ALSO DEALS WITH THE FUNDAMENTAL QUESTIONS LIKE WHO ARE WE? WHAT MAKES US HUMAN AND THAT'S DRIVEN MY INTEREST IN WORKING WITH PATIENTS. I WORKED WITH NEUROFUNCTIONAL SURGERY TEAMS IN THE CAREER STARTING WITH EPILEPSY SURGERY AND IN THE LAST 20 YEARS THE DEEP BRAIN STIMULATION FIELD. I WAS FOR THE NAT TO ARRIVE AT THE -- I WAS FORTUNATE TO ARRIVE AT THE CLEVELAN CLINICAL AND WAS A KEY MEMBER IN THE EARLIEST TRIALS LOOKING AT DBS OR DYSTONIA FOR TOURETTE'S AND IT'S BEEN AN AMAZING OPPORTUNITY TO SEE WHAT HAPPENS BEFORE THE SURGICAL PROCEDURE AND AFTERWARDS. MORE IMPORTANTLY, MY GOAL AND WHAT I TAUGHT MY FELLOWS IN TERMS OF WORKING WITH THESE PATIENTS IN THESE TEAMS AS A NEUROPSYCHOLOGY IS WE'RE CHARGED WITH TRYING TO IDENTIFY THE RISKS AND BENEFITS FROM A COGNITIVE STANDPOINT FROM THE PROCEDURE AND FROM A NEUROBEHAVIORAL PERSPECTIVE. EMOTIONAL, PERSONALITY AND SO ON. WILL THEY BE ABLE TO MAKE IT BRAKE FOR PROGRAMMING SESSIONS. FURTHERMORE AND WHAT ARE THEIR GOALS AND EXPECTATIONS. THESE ARE SURGERIES DESIGNED TO IMPROVE PATIENTS' QUALITY OF LIFE WHICH IS A SUBJECTIVE CONSTRUCT AND IF THEIR EXPECTATIONS ARE LIKE THIS AND WE CAN ONLY DO THIS, SOMEBODY'S GOING TO BE UNHAPPY, BUT IF WE DON'T KNOW WHAT THEIR EXPECTATIONS ARE, WE CAN'T HAVE THE OPPORTUNITY FOR DIALOGUE TO IMPROVE EXPECTATIONS SO THEY'RE SHARED AND MET AND THAT'S RELATED TO INFORMED CONSENT ISSUES. THAT GETS US TO THE TOPIC OF ETHICS. I'M NOT A TRAINED PHILOSOPHER OR ETHICIST AND I HAVE A LARGE TEAM I'M FORTUNATE TO WORK WITH FOR PEOPLE WHO DO HAVE THAT SPECIFIC KIND OF TRAINING. AT FIRST ETHICS SOUNDS INTIMIDATING. LIKE THOU SHALT NOT DO IS WHAT I THOUGHT OF WITH ETHICS BUT IT'S NOTHING MORE THAN VALUES AND WHAT WE HOLD DEAR. ETHICAL DECISION MAKING GETS INTERESTING WHEN THERE'S A CONFLICT BETWEEN TWO VALUES AND WE HAVE TO GIVE UP SOMETHING WE VALUE TO PRESERVE THE OTHER. THAT'S WHERE IT GETS INTERESTED AND WE DON'T HAVE TO USE MULTISYLLABIC WORDS TO DESCRIBE ETHICS IT CAN BE UNDERTAKEN IN EVERY DAY, PLAIN LANGUAGE TO DESCRIBE THOSE THINGS MOST DEAR. NOR IS IT DEPENDENT OR SITUATION DEPENDENT OR WHAT WE FEEL INTERNALLY LIKE A GUT RESPONSE. IT SHOULD BE SYSTEMATIC AND SHOULD TAKE INTO ACCOUNT THE IMPORTANCE OF SPECIFYING VALUES IN THE TRAIN OF THOUGHT AND SHOULD BE CONSISTENT TO DEVELOP ETHICAL NORMS THAT HOLD ACROSS SIMILAR CASES. SO WHAT I'D LIKE TO DO IS HIGHLIGHT SOME OF THE RESEARCH WE'VE BEEN ENGAGED IN AND WANT TO PREFACE THAT THIS REFLECTS MY OPINIONS AND MY COLLABORATORS AND NOT NIH AND I'M GRATEFUL FOR THE OPPORTUNITY TO ENGAGE IN THIS KIND OF SYSTEMATIC, EMPIRICAL RESEARCH. ONE OF THE FIRST STUDIES WE LOOKED AT IN WORKING WIN -- WITH DEEP BRAIN STIMULATION IS THE IDEA OF CONTROL. IT'S IMPORTANCE IN THINKING ABOUT A BIOETHICAL TENANT AND THIS IS MY BODY YOU CAN'T DO ANYTHING UNLESS I GIVE YOU PERMISSION. THAT'S THE IDEA OF CONTROL. WE LOOKED AT PATIENTS WHO UNDERWENT DEEP BRAIN SIMULATION FOR MOTOR STIMULATION OF PARK KIN SONS DISEASE AND -- PARKINSON'S DISEASE AND PATIENTS SPONTANEOUSLY SAY I FEEL TRAPPED. THAT'S HOW I LEARNED TREMOR, RIGIDITY, AKINESIA AND INSTABILITY AND GET FROZEN AND CAN'T MOVE AND WANT MORE CONTROL. WE THOUGHT WHAT ARE WAYS TO BREAK DOWN THE CONCEPT OF CONTROL? CONTROL OVER WHAT? AND WE THOUGHT OF PERSONAL CONTROL AND THEIR GOALS AND EXPECTATIONS. THE ABILITY TO ACTIVELY ACHIEVE YOUR PERSONAL GOALS AND DEVICE CONTROL. HOW MUCH CONTROL DO THEY WANT OF THE DEVICE? WE LOOKED AT A GROUP OF PATIENTS WITH PARKINSON'S DISEASE AND PRIOR TO SURGERY AND THREE AND SIX MONTHS AFTER SURGERY AND DID A MIXED METHODS WHERE WE LOOKED AT INTERVIEW DATA WHICH WERE CODED AND HAD QUANTITATIVE MEASURES SPECIFIC TO OUR RESEARCH PROTOCOL AND STANDARD OUTCOME MEASURES LOOKING AT EFFICACY. PRIMARY FINDINGS IS THAT MOST THE STANDARD OUTCOME MEASURES LOOKING TO EVALUATE EFFICACY FOR DEEP BRAIN STIMULATION AND PARKINSON'S DISEASE DON'T MEASURE EVERYTHING TO OUR PATIENTS SO WE'RE ONLY CAPTURING A TINY TIP OF THE ICEBERG. DESPITE CONVERSATIONS WITH MULTIPLE TEAM MEMBERS, SYMPTOMS THAT DON'T RESPONSE TO DBS WERE THE MOST OFTEN CITED SYMPTOM GOALS. THEY WANTED DBS TO ADDRESS NON-MOTOR SYMPTOMS. IF YOU'RE IN A TEAM-MANAGEMENT MEETING LOOKING AT DABS CANDIDACY WE ALWAYS SAY DBS IS NOT GOING TO ADDRESS THEIR COGNITIVE SYMPTOMS. IT'S PROBABLY NOT GOING ADDRESS THEIR ANXIETY OR DEPRESSION UNLESS IT'S RELATED TO MEDICATION OR OTHER ASPECTS. DESPITE ALL THE MULTIPLE CONVERSATIONS THEY STILL WANTED DBS TO HELP WITH THEIR NON-MOTOR SYMPTOMS. THE UNDERLYING GOALS WERE NOT SYMPTOMS BUT HOW THEY GOT IN THE WAY OF WHAT THEY WANTED TO DO WITH THEIR LIVES WHICH IS OBVIOUS BUT YEAR NOT ASKING THAT. FOR EXAMPLE THEY HAD TO DO WITH GOALS RELATED TO RELATIONSHIPS. I WANT TO BE ABLE TO GO TO MY GRANDSON'S GAMES OR EDUCATIONAL PURSUITS, EXERCISE, HOBBIES AND WORKING, WHICH ISN'T SURPRISING. THESE ARE COMMON LIFE GOALS FOR ALL OF US AND WHY THEY CHOOSE TO UNDERGO DBS. WHY IS THIS IMPORTANT? IF YOU ASK YOUR PATIENT WHAT'S YOUR GOAL FOR DBS AND THEY SAY REDUCE MY TREMOR AND YOU DON'T ASK WHY, IF IT'S HANDWRITING, WE CAN TREAT THAT. IF IT'S SO I CAN GO BACK AND DO KNIFE SURGERY, THAT MAY NOT HAPPEN REGARDLESS OF HOW GOOD YOUR TREMOR CONTROL IS. IT'S IMPORTANT TO IT'S SOME UNDERLYING MOTIVATIONS OUT TO MAKE SURE EXPECTATIONS ARE ALIGNED. WE FOUND DEFENSE IMPROVED SYMPTOMS AND PERSONAL GOALS WITH ONE EXCEPTION. IT DIDN'T IMPROVE RIGIDITY BUT SAW IMPROVEMENTS IN OTHER AREAS. IN TERMS OF COMMUNICATING THEY'RE REPORTING AND WE ASKED PATIENTS TO RANK THEIR GOALS. AFTER DBS THEY SAID TREMOR WAS THEIR TOP-RANKED GOAL IN WHAT THEY WANTED TO ADDRESS AND SUDDENLY IT SLIPS AND GUESS WHAT POPS UP? NON-MOTOR SYMPTOMS. THIS IS INTERESTING BECAUSE DBS IS BE AN ONGOING TREATMENT WITH THE POSSIBILITY OF INFINITE COMBINATIONS OF CHANGING THE PARAMETERS AND CHASING SPECIFIC SYMPTOMS TO TWEAK THINGS FURTHER. THE WHOLE IDEA OF INFORMED CONSENT MAY CONTINUE BEYOND THE CONSENT FOR SURGERY AND FIGURING OUT HOW YOU COMMUNICATE THAT EARLY ON THAT SAY PRIOR TO SURGERY, THIS IS WHAT YOU SAID AND WE CAN ADDRESS THIS. WE'VE ADDRESSED THIS NOW AND NOW SOME OF THE OTHER SYMPTOMS TAKE PRECEDENT BECAUSE THEY'RE MORE IN THE FOREFRONT. THE OTHER THING THAT'S INTERESTING IS THE WAYS OF LOOKING AT CONTROLS IN THE DEVICE REALM IN TERMS OF PEOPLE DEVELOPING DEVICES. THE PINK LINE REFERS TO A PATIENT'S OVERALL SENSE OF CONTROL. IT'S A SIMPLE RATING SCALE AND HAVE YOU PRE-DBS AND THE LIFE IMPROVES SIGNIFICANTLY FOLLOWING SURGERY. THE BLUE LINE REFLECTS HOW MUCH THEY WANT TO CONTROL THE STIMULATOR. BEFORE THE SURGERY THEY WANT TO CONTROL IT MORE THAN AFTER SURGERY. IN FACT, THAT DECLINES OVER TIME. THOSE ARE NEGATIVELY CORRELATED AND WHAT IT TELLS ME CLEARLY IS THAT THINGS CHANGE AND ONCE YOU'VE LIVED WITH A DBS DEVICE AND YOU DEVELOPED TRUST IN THE TEAM AND RECOGNIZE THE COMPLEXITIES INVOLVED YOU DON'T WANT THAT MUCH MORE CONTROL THAN THE ABILITY TO TURN IT ON AND OFF WHICH IS IMPORTANT IN TERMS OF LOOKING AT HOW MUCH PATIENTS WE SHOULD LET THEM CONTROL THE DEVICES. AND IT CHANGES OVER TIME. THAT'S REALLY INTERESTING AND THE LANGUAGE PATIENTS USE IT IS THAT THEY TRUST IN THE TEAM'S EXPERTISE AND FEEL THEY HAVE SUFFICIENT CONTROL ENOUGH AS IT IS. THERE WERE EARLIER PAPERS FROM THE CONCEPTUAL NEUROETHICS SCHOLARS THAT DBS RESULTS IN A LOSS OF CONTROL. AND THEY'RE GIVING UP CONTROL BECAUSE THEY CAN GET MORE IN OTHER WAYS THAT ARE MORE IMPORTANT AND MEANINGFUL TO THEM. ANOTHER THING THAT'S A TOPIC THAT HAS ALWAYS FASCINATED ME AND REFLECT WHAT'S KARA SAYS IS WHAT MAKES US UNIQUELY HUMAN. I'VE SEEN PATIENTS FROM THE GENERAL NEUROLOGY SERVICE WHERE THE CONCERN IS THE DIAGNOSIS OF DEMENTIA AND THEY SAID TELL ME IT'S ANYTHING BUT ALZHEIMER'S. IF IT'S ALZHEIMER'S I NO LONGER EXIST. I'M NO LONGER ME. OR YOU CAN HAVE PATIENTS AND FAMILY MEMBERS THAT ARE DBS CANDIDATES SAY WILL SHE STILL BE HER AFTER SURGERY. IT'S NOT SPRIEFZING WH-- SURPRISING WHEN WE LOOK AT PORE TRAILS OF DEGENERATIVE DISORDERS WE SEE FICTIONAL AND DYSFUNCTIONAL DISORDERS AND WE HAVE A UNIVERSITY PROFESSOR WHO RUNS DAILY AND CONTRACTS THIS HORRIBLY DEBILITATING DISORDER EARLY IN LIFE WHICH IS WHAT HAPPENS TO THOSE WHO GET IT EARLY IN LIFE A MUCH MORE RAPID COURSE DOWNWARD AND THINK THAT'S WHAT DEMENTIA MEANS. OR THAT PEOPLE WILL COMMIT SUICIDE TO AVOID THAT END STATE. SO THE IMAGES WE'RE BOMBARDED WITH ESSENTIALLY THAT A NEURODEGENERATIVE DISORDER IS A DEATH SENTENCE AND YOU'RE NO LONGER YOU. I WONDERED IF THAT'S REALLY TRUE FROM THE PATIENT'S AND FAMILY'S PERSPECTIVE. IT'S COMPLICATED FURTHER WHEN YOU THINK OF IMPLANTABLE DEVICES AND THE IDEA OF CYBORGS AND OR THE THEY'RE FANTASTICAL SCOTORIES THEY ALTER THE DECISION OF WHAT IT DOES. AS A SCIENTIST, MICHAEL SAID LET'S STUDY THAT EMPIRICALLY. OUR TEAM WAS FORTUNATE ENOUGH TO TO DO THAT. BRIEFLY I WANT TO SAY THE OBVIOUS. CLEARLY THE BRAIN IS RELATED TO PERSONALITY AND ANYTHING THAT CAN IMPACT THE BRAIN EITHER AN INJURY OR NEURODEGENERATIVE DISORDER CAN IMPACT THAT FOR THE BETTER OR WORSE. WE KNOW I HAVE A PICTURE OF FINN FINNEUS GAGE WITH AGE INJURY AND HE COULD NO LONGER WALK AND TALK AND THERE WAS THE IMPORTANCE OF FOCAL INJURIES. IF HE COULD WALK AND TALK IT'S A MATTER OF HOW MUCH TISSUE'S DAMAGED BUT WHERE BUT WE KNOW NOW IT'S WHERE THE TISSUE IS THAT'S IMPORTANT. AFTER THE INJURY HE WAS MALIGNED AND MISSTATED HE NEVER HELD DOWN A JOB BUT HE DID. HE WAS A STAGECOACH DRIVER IN SOUTH OR CENTRAL AMERICA BEFORE HE CAME BACK TO CALIFORNIA AND LIVED WITH HIS MOTHER AND ENDED UP DYING OF EPILEPSY. WE CLEARLY KNOW THE BRAIN IS CRITICAL FOR ACCESS TO WHOER -- WHO ARE AND MAKES US HUMAN. WE KNOW IN THE DBS WORLD THERE WERE CHALLENGES AND HIGHLY INFLUENTIAL STUDIES INDICATING SIGNIFICANT CHANGES IN PERSONALITY AND DEVELOPED A LIFE OF THEIR OWN IN TERMS OF HOW IT FUNDAMENTALLY CHANGES WHO WE ARE TO THE POINT I'M WORRIED ABOUT FEAR MONGERING VERSUS THE EMPIRICAL DATA WHICH SHOWS LITTLE CHANGE IN TERMS OF ASPECTS OF PERSONALITY AS MEASURES OF STANDARD TESTS AND THAT ARD W -- AWARD WAS GRANTED IN 2017 AND WE'RE ASKING PATIENTS AND FAMILY MEMBERS DIRECTLY, WHO ARE YOU AND WHAT ASPECTS OF YOU DO YOU THINK ARE MOST IMPORTANT? WHAT DEFINES WHO YOU ARE IN TERMS OF YOUR PERSONALITY? WE HAVE PATTERNS OF THINKING, FEELING AND BEHAVING. I USE THE PSYCHOLOGICAL DEFINITION BECAUSE THAT'S ANY AREA OF EXPERTISE. AND ASSESS CHANGES OVER TIME IN A COHORT THAT HAVE DRBS. IT'S A LARGE STUDY. WE HAVE 150 PATIENTS WITH MAR -- PARKINSON'S DISEASE AND THEY HAVE A CARE PARTNER AND WE GO THROUGH A SYSTEMATIC INTERVIEW WHERE THE DATA IS CODED AND RATING SCALES AND STANDARD PERSONALITY MEASURES. 50 OF THE PATIENTS ARE DBS CANDIDATES AND FOLLOWED UP PROSPECTIVELY AND WE'LL FOLLOW ANOTHER SET WHO DO NOT GO ON TO HAVE DBS. DOES DBS CHANGE WHO YOU ARE FROM THE PERSPECTIVE I ARGUE MATTERS MOST WHICH IS PATIENTS AND FAMILIES. IN TERMS OF YOU'RE PRELIMINARY FINDINGS. WE'VE BEEN SUCCESSFUL IN TERMS OF OUR FINDINGS. WE'RE TWO-THIRDS OF THE WAY DONE WITH RECRUITMENT. WE KNOW EXISTING PERSONALITY MEASURES DO NOT COMPREHENSIVELY ASSESS MOST WHAT MATTERS TO PATIENTS. IT'S IMPORTANT IN TERMS OF ONCE AGAIN INFORMED CONSENT AND MAKE SURE WE'RE ABLE TO TALK TO PATIENTS IN A WAY THAT MAKES SENSE TO THEM. WE ALSO KNOW THAT TRAITS RELATED TO RELATIONSHIPS WHERE THE TOP TWO CHARACTERISTICS ARE WHAT PATIENTS WANT TO PRESERVE. THIS IS INTERESTING IF WE THINK ABOUT THE DOMINANT VALUE AND HOW WE HOLD DEAR OUR INDEPENDENCE AND AUTONOMY. IF YOU LOOK AT IT FROM THE PATIENT'S PERSPECTIVE, WE'RE RELATIONSHIP BEINGS AND THAT'S WHAT WE WANT TO HANG ON TO MOST AND THE COGNITIVE OR SOCIAL NEUROSCIENCE. PATIENTS REPORTED DECLINES, RETROSPECTIVE DECLINES. THEY'RE NOT WHERE THEY USED TO BE IN THE CONTEXT OF THE DISEASE SUGGESTS IT'S THE DISEASE OR UNDERLYING PATHOLOGY AS WELL AS SOCIAL FACTORS THAT CONTRIBUTE TO PROBLEMS. AND PATIENTS CANDIDATES FOR DBS ARE LIKELY TO ANTICIPATE GAINS. IF WE ASKED THEM WHERE DO YOU THINK YOU'LL BE IN THE FUTURE YOU THINK YOU'LL SEE IMPROVEMENTS IN THE TRANTS WHEREAS THE OTHER CANDIDATES ANTICIPATE FURTHER DECLINE. THIS IS TREMENDOUS IMPLICATIONS IN TERMS OF INFORMED CONSENT AND WE HAVE TO GET THE DATA TO SEE WHOSE RIGHT. THIS IS A HIGHLIGHT OF THE WORK WE'VE BEEN ENGAGED IN. I HOPE IT EMPHASIZES HOW IMPORTANT WE THINK THE PATIENT AND FAMILY'S VOICES ARE AND IT'S IMPORTANT AS A FRONT-LINE CLINICIAN AND EMPHASIZE THE INTERDISCIPLINARY NATURE AND I HAVE SMART PEOPLE HELPING ME. I DON'T HAVE A SLIDE WITH ALL THEIR NAMES BUT I HAVE AN AWFUL LOT. ANYWAY, THANK YOU. >> I WANT TO OPEN IT UP FOR QUESTIONS FROM THE AUDIENCE. >> FROM YOUR STUDIES HOW GENERALIZABLE ARE THESE FINDINGS FROM ACROSS THE POPULATIONS? >> I THINK THAT'S AN EXCELLENT QUESTION. WE HAVE A PARALLEL STUDY I GOT ONE LOOKING AT CONTROL IN EPILEPSY PATIENTS WITH THE DATA TO BE ANALYZED AND THINK SOME OF THE SAME THEMES ROSE TO THE TOP. BOTH WITH EPILEPSY AND PARKINSON'S DISEASE, DRIVING WE A PRIMARY BEHAVIORAL GOAL. WE ALSO HAVE A SMALL PILOT STUDY WHERE WE LOOK AT A SIMILAR METHODOLOGY WITH PERSONALITY MEASURES AND LOOK AT OTHER PATIENT GROUPS AND FAMILY MEMBERS WITH DIFFERENT NEUROGENERATIVE DISEASES AND LOOK AT THE CORRELATES WITH THE PERCEIVED CHANGES AND IS THERE COMMONALITY? I SUSPECT WE'RE STILL GOING TO FIND RELATIONSHIP-CENTERED TRAITS BUBBLING UP TO THE TOP BUT ONCE AGAIN THAT'S A HYPOTHESIS. WE'RE STARTING TO INVESTIGATE THAT. I THINK THERE'S COMMONALITIES THERE. THE ONE THING I'M NOT CERTAIN ABOUT IN TERMS OF THE DEVICE CONTROL AND HOW MUCH IS THAT SPECIFIC TO OUR TEAM. WE'VE BEEN DOING THIS SO MUCH SO I DON'T KNOW HOW GENERALIZABLE IT IS FOR OTHER SITES. >> THE DATA INDICATE IT'S TRUST IN THE TEAM AND SO I DON'T KNOW. >> THANK YOU. I'M INTERESTED AND WE TALKED EARLY ABOUT CHILDREN GETTING DEEP BRAIN STIMULATION AND WONDERING HOW THIS PERSPECTIVE CHANGES WHEN WE'RE TALKING ABOUT CHILDREN NON-VERBAL SUFFERING GREATLY FROM INTENSE MOVEMENT DISORDERS AND THEIR PARENTS AND MEDICAL TEAMS ARE DECIDING THIS WITHOUT THEIR CONSENT. >> I'LL LET KHARRA TALK ABOUT THE ETHICS THING AND DYSTONIA AND OTHER DEBILITATING ILLNESSES AND I THINK THE TOURETTE'S SOCIETY HAS SUNDAY IT'S BETTER TO -- HAS SAID IT'S BETTER TO INTERVENE EARLIER TO GIVE THE BRAIN TO COMPENSATE AND FROM A SOCIAL INTEGRATION PERSPECTIVE, NOT THOSE THAT ARE SO INCREDIBLY DISABLED BUT IF YOU HAVE A KID WHOSE GOT DYSTONIA AND YOU CAN INTERVENE SO THEY CAN LAUNCH IT'S HUGE FOR THEM AND SOCIETY AND THEIR FAMILIES. THAT'S ONE PERSPECTIVE. CAN WE INTERVENE EARLIER. THERE'S AN A HOST OF SPECIFIC ETHICAL ISSUES THERE AS WELL. >> WE HAVE ONE NEUROEHICS GRANT LOOKING AT THIS IN CHILDREN. THERE'S SO MUCH TO THINK ABOUT IN THAT SPACE JUST IN GENERAL. CERTAINLY AROUND INFORMED CONSENT AND NEUROETHICS YOU'RE TALKING ABOUT INTERVENING NOT ON THE LIVER AND KIDNEYS BUT I THINK AN ORGAN THAT IS FUNDAMENTAL TO WHAT THE CHILD WILL TURN INTO. THERE'S IMPORTANT NEUROETHICAL QUESTIONS AROUND ANY KIND OF INTERVENTION THAT HAPPENS ON A CHILD'S BRAIN WHETHER IT'S SURGERY OR PHARMACOLOGIC AND SOME OF THOSE KINDS OF ISSUES HAVE BEEN EXPLORED IN THE PHARMACOLOGIC SPACE. I THINK WHEN YOU TALK ABOUT SURGERY, THERE ARE ADDITIONAL ANGLES. I THINK IT'S SOMETHING THAT'S HAVE A GRANT ON THAT.SAID, WE CLEARLY MORE WORK TO BE DONE. >> SOMETIMES WE THINK ABOUT NEUROSURGICAL TECHNIQUES, THEY'RE MORE INVASIVE BUT SOMETIMES THEY'RE ALSO SAFER IN SOME WAYS. AND PHARMACOLOGIC CHANGES CAN BE MORE APPARENT. I'VE SEEN MORE PERSONALITY CHANGE IN PARKINSON'S DISEASE WITH AN NEUROAGONIST THAN SURGERY AND WITH NEUROSURGERY YOU'RE PINPOINTING THE CIRCUIT. WITH PHARMACOLOGY YOU'RE FLOODING THE BRAIN. HOPEFULLY NOT, BUT WE DON'T HAVE WAYS OF PUTTING MICROPUMPS IN TO SPECIFIC NETWORKS. I THINK WE HAVE TO THINK ABOUT THAT. >> SOME OF THE QUESTIONS YOU RAISED PARTICULARLY ABOUT DEVICES AND WHAT HAPPENS AFTER THE EXPERIMENT'S OVER IS CRITICAL BUT THAT'S NOT MY QUESTION. I WANT TO ENCOURAGE YOU TO KEEP LOOKING AT THAT AND WHO'S RESPONSIBLE FOR HELPING PAY FOR A DEVICE PUT IN FOR RESEARCH PURPOSES BUT NOW PART OF THAT PERSON. YOU WERE SAYING IN TERMS OF PARKINSON'S AND MAYBE BECAUSE I DON'T UNDERSTAND ENOUGH WHETHER DBS IS CONSIDERED NOW AN ACCEPTED, APPROVED TREATMENT FOR PARKINSON'S BUT AS AN ACCEPTED TREATMENT, TALKING ABOUT INFORMED CONSENT WAS INTERESTING AND VERY HARD FOR ME TO ASCERTAIN. AS RESPONSIBLE SURGEONS AND CLINICIANS, YOU STILL UNDERGO AN INFORMED CONSENT PROCESS. I HAVEN'T HEARD INFORMED CONSENT DISCUSSED IN THAT WAY AND DO YOU THINK FOR THE TECHNIQUES AND TECHNOLOGIES IT'S SOMETHING WE SHOULD BE INSTITUTING INTO PRACTICE? IS THAT WHAT YOUR IMLYING? >> I THINK THAT'S A STANDARD OF CARE BEFORE THE SURGICAL PROCEDURE YOU DOCUMENT YOU'VE HAD THAT DISCUSSION IN THE MEDICAL CHART. ONCE AGAIN IF IT'S AN ELECTIVE NEUROLOGICAL PROCEDURE TO IMPROVE QUALITY OF LIFE THE DISCUSSION NEEDS TO BE MORE FINE GRAINED AND NUANCED. >> DO WE HAVE GUIDELINES FOR THE COMMUNITY FOR IRB'S LOOKING OVER YOUR SHOULDERS ARE THERE STANDARDS OR GUIDELINES. THIS SAY NEW CONCEPT TO ME. >> YOUR POINT IS ILLUSTRATING SOMETHING ALWAYS INTERESTING WE ALL COME FROM THE SAME PROBLEM FROM DIFFERENT PERSPECTIVES. IT'S LIKE DESCRIBING THE ELEPHANT. AND THE SURGEONS GET CONSENT BEFORE SURGERY. >> YES, AND I UNDERSTAND. BUT USING THE TERM INFORMED CONSENT SUCH A DEFINED TERM IN RESEARCH AND PART OF THE REGULATORY, MAYBE IT'S MY CONFUSION IN THAT BUT MAYBE IT IS SOMETHING WE NEED A BROADER DISCUSSION ABOUT. >> THE PART I THOUGHT WAS INTERESTING WAS YOU ASKED WITH THE GOALS IN THE CONTEXT OF YOUR RESEARCH STUDY AND WHAT YOU FIND MAY BE SNAG SHOULD BE IMPLEMENTED INTO PRACTICE AS PART OF THAT PROCESS OF SURGICAL EVALUATION AND -- >> THAT'S WHAT WE DO. NOW EVERY MEMBER OF OUR TEAM ASKS THE GOALS AND EXPECTATIONS AND NOT JUST REDUCING TREMOR BUT WHY. IT'S EVOLVED AND WE HAVE THE RESEARCH TO SUPPORT IT AS WELL. >> THAT'S A WONDERFUL PRACTICE. IS THAT BEING DONE AT OTHER CENTERS AS WELL? >> I CAN TELL YOU EVERY TIME I TALK ABOUT THIS I'M PROS APPROVPROSLETIZE THIS. >> ANY QUESTIONS? ANY LAST COMMENTS YOU ALL WANT TO MAKE? >> KEEP FUNDING US. >> CLEARLY IT'S IMPORTANT WORK AND IT'S NOT BEING FUNDED ELSEWHERE. I THINK THERE'S A REAL NICHE HERE THAT'S IMPORTANT. GREAT, THANK YOU BOTH, VERY MUCH. >> I MUST SAY I WAS NOT ON THE COMMITTEE THAT ASSEMBLED THIS WONDERFUL PROGRAM BUT I CAN IMAGINE THEY WERE THINKING THAT HOWEVER UPBEAT THE REST OF THIS CONFERENCE WAS WE NEEDED TO ENSURE WE WERE GOING TO END ON THE HIGHEST POSSIBLE NOTE AND SO MY NOTES SAY THAT THIS NEXT SEGMENT WHICH IS THE LAST OF THIS CONFERENCE IS CALLED FEATURED SUCCESS STORIES. I CAN'T THINK OF A BETTER WAY TO END A CONFERENCE. WE HAVE THE CHIEF EXECUTIVE OFFICER AT THE CENTER FOR FRONTAL TEMPORAL DEGENERATION AND FOUND THE INVESTMENT IN SPECIFIC STRATEGIES TO ADVANCE RESEARCH ON FTD AND ON DRUG DEVELOPMENT. THIS INCLUDES A TWO MULTIYEAR, MULTI-MILLION DOLLAR RESEARCH INITIATIVES TARGETING FTD DIAGNOSIS AND TREATMENT AND DIRECTED ADVOCACY OUTREACH FOR PEOPLE WITH THE DISORDER AND THEIR FAMILIES AS WELL. SHE HOLDS A MASTERS DEGREE IN GENETIC COUNSEL FROM ARCADIA UNIVERSITY AND BACHELOR'S DEGREE IN BIOLOGY AND PSYCHOLOGY FROM SWARTHMORE SCHEDULE. >> >> WE SAVED THE BEST FOR LAST INJECTING ENERGY IN THE ROOM UNBIASSED HERE. I LOVE THIS MEETING EVERY YEAR AND THE PEOPLE IN THIS ROOM AND THE PEOPLE WHO DEDICATED THEIR LIVES TO BUILDING THESE ORGANIZATIONS ARE JUST SUCH A MOTIVATION FOR ME AND I KNOW FOR SO MANY PEOPLE IN THE WORLD AS WELL AS THE SCIENTISTS WHO WORK IN OUR DISEASES AND IT'S ESPECIALLY POIGNANT AND IMPACTFUL SO MANY OF US IN THE ROOM ARE HERE BECAUSE OF THE CURVEBALL FATE HAS THROWN US AND A WANT TO TIP MY HAT TO EVERYBODY IN THE ROOM. EVERYBODY IS AMAZING AND THEIR OWN SUCCESS STORIES AND WE HAD TO PICK THREE FOR THE FINAL SESSION. IT'S MY PLEASURE TO INTRODUCE OUR THREE PANELISTS. THE PRESIDENT CHIEF EXECUTIVE OFFICER OF BRIDGE THE GAP EDUCATION AND RESEARCH FOUNDATION. SHE BEGAN HER WORK IN ADVOCACY FOLLOWING DIAGNOSIS OF ONE OF HER SONS WITH THE GENE MUTATION WHICH CAUSES DEVELOPMENT DELAY AND INTELLECTUAL DISABILITY AND AUTHOR AND ADVOCATE. OUR SECOND PANELIST WILL IS DR.ON PORTER. WHO HAS MORE THAN TWO DECADE OF EXPERIENCE WORKING WITH FEDERAL AND NON-PROFIT ORGANIZATIONS AND DRUG DISCOVERY AND DEVELOPMENT COMPANIES. FOR 10 YEARS HE WORKED AT THE NATIONAL INSTITUTES OF HEALTH WHERE HE MANAGED RESEARCH GRANT FUNDING EXCLUDEING DISEASES WITH THE NERVE AND SKELETAL MUSCLE AND WAS A KEY MEMBER OF THE MUSS MUSCULAR DYSTROPHY COORDINATING COMMITTEE AND FINALLY TERRY KLEIN AT THE NATIONAL MPS SOCIETY A RESEARCH GROUP FOR AWARENESS OF AND RESEARCH ON INHERITED METABOLIC DISEASES INCLUDING MANY. SHE HAS AN EXTENSIVE BACKGROUND IN NATIONAL AND INTERNATIONAL FUNDS DEVELOPMENT IN THE NON-PROFIT SECTOR. HER YOUNGEST DAUGHTER SUFFERS FROM ONE OF THESE CONDITIONS. THEY'LL EACH TAKE ABOUT SEVEN MINUTES TO TELL YOU THEIR STORIES AND THEN WE HAD DISCUSSED IT AND PULLED OUT SOME COMMON THEMES BUT WE INVITE YOU ALL TO TAKE NOTES AND WORK WITH US TO ADDRESS THE COMMON THEMES. WITH THAT I'LL TURN IT OVER TO MONICA. >> I WANT TO THANK EVERYBODY FOR BEING HERE. I WANT TO THANK THE NON-PROFIT FORM AND THE INSTITUTE FOR INVITING KNOW SPEAK. IT'S AN HONOR TO BE HERE. I'M MONICA WELDON. I WANT TO GIVE YOU ATID BIT OF MY JOURNEY AND HOW MUCH WE HAVE DONE NAY SHORT PERIOD OF TIME AND -- IN A SHORT PERIOD OF TIME WITH A LOT OF HELP WITH THE STAKEHOLDERS IN THE SPACE ESPECIALLY RARE DISEASE. THE NATIONAL INSTITUTES OF HEALTH AND OF COURSE FEDERAL AGENCIES AND THINGS WE WORK WITH. WE ARE VERY A VERY YOUNG ORGANIZATION. OUR MISSION IS TO SERVE, EDUCATE AND FUND RESEARCH FOR FAMILIES COPING WITH THE EFFECTS OF THE SIN GAP MUTATIONS. WE WERE ESTABLISHED IN 2014 AND ARE NOW ABOUT FOUR AND A HALF YEARS OLD. AND WE HAVE ONE EMPLOYEE AND WE HAVE SEVEN EXECUTIVE BOARD MEMBERS, I FORGOT TO COUNT MYSELF IN THAT NUMBER. WE HAVE SEVEN. AND WE HAVE THE SIN GAP MUTATION ALL OVER THE WORLD. I TRIED TO PUT TOGETHER HIGH LEVEL POINTS OF THINGS WE DISCOVERED ABOUT THE DISORDER. SINCE MY SON WAS DIAGNOSED HE WAS NUMBER SIX IN THE WORLD WE KNOW OF IN 2012. SINCE THAT TIME IN 2009 AND I'LL GET TO THE NEXT SLIDE TO TELL YOU THAT STORY, WE KNOW THE PREVALENCE NUMBERS HAVE COME OUT THAT ARE FIVE OF EVERY 500 ENCEPHALOPATHIES WILL HAVE A SIN GAP 1 ARE YOU -- MUTATION AND AND SEIZURES CAN BE COMBINED WITH OTHER KINDS AS WELL. WE HAVE MANY KIDS THAT GO MISSED. MY SON WENT MISSED FIVE YEARS HAVING EPILEPSY AND WE DID NOT KNOW. IT'S ONE OF THE SECOND MOST COMMON GENE MUTATIONS LINKED TO AUTISM WORLDWIDE. AND IN RECENT PUBLICATIONS COMBINED WITH THE NATURAL HISTORY DATA AND DATA FROM THE NEW DATABASE, WE WERE ABLE TO FIND THE SENSORY PROCESSING ISSUE PROBLEM AND I WANTED TO HIGHLIGHT HOW ADVOCACY ORGANIZATIONS AND ACCELERATE RESEARCH IN AN ORDERLY FASHION WHEN YOU HAVE SEVERAL THINGS RUNNING IN PARALLEL TO EACH OTHER. I WANT TO THE HISTORY OF WHAT THE SIN GRAP STORY IS. SIN GAP STORY IS. IT'S RELATIVELY NEW COMPARED TO DISEASES DISCOVERED LONG AGO. THE GENE WAS DISCOVERED IN 1998. THEN THE GENE WAS ACTUALLY FOUND IN HUMANS FIRST IDENTIFIED IN HUMANS CAUSING INTELLECTUAL DISABILITY FROM THE UNIVERSITY OF MONTREAL. MY SON HAPPENED TO BE ONE OF THE FIRST DIAGNOSED IN 2012 AND I START THE FIRST ORGANIZATION IN THE WORLD TO START TRYING TO DRIVE RESEARCH BECAUSE THERE WAS NOTHING AND KNEW THERE HAD TO BE SOMETHING MORE AND WAS A BOUND AND DETERMINED ANOTHER AND WASN'T GOING TO STOP UNTIL I HAD SOME ANSWERS. WE THEN PLANNED OUR FIRST INTERNATIONAL MEETING. THIS WAS THE FIRST TIME IN THE WORLD WE GATHERED EVERY EXPERT ON SYN GAP 1 AND HEARD OF IT AND CROSS-OVER DISORDERS LINKED TO IT AND WE CAME TOGETHER WITH THE FAMILIES AND THAT CHANGE THE PARADIGM OF THE RESEARCH AND THAT'S BEEN ABOUT TWO AND A HALF YEARS AND THAT SET THE BALL INTO MOTION AND SNOWBALLED. I'M HOPING WHAT WE DO IT WILL ENCOURAGE YOU AS YOU RUN YOUR NONPROFITS TO DO THE SAME. SINCE 2016 WE LAUNCHED OUR DATABASE AND IT'S HELD BY THE NATIONAL ORGANIZATION OF RARE DISORDERS IN PARTNERSHIP WITH THE FDA. THE DATABASE HAS BEEN OUR LIFE SAVING ANSWER TO FINDING OUT HOW THIS DISEASE WORKS AND WHERE WE NEED TO GO TO TARGET THERAPIES. I TALKED TO SOMEONE AND THEY SAID YOU NEED TO GET THE DATABASE AND SO WE TALKED TO SUCCESSFUL PEOPLE TO BE SUCCESSFUL. AND WE WERE ABLE TO DEVISE WITH OUR COMMUNITY ONLINE AND SOCIAL MEDIA TO HAVE THE LARGEST COHORT OF INDIVIDUAL TO HELP IDENTIFY TWO BRAND NEW TYPES OF SEIZURES IN THIS DISORDER PLUS FIND A BIOMARKER WE WERE TILL -- STILL GOING TO WORK ON VALIDATING. THAT'S OUR BRIEF HISTORY. I'M HOPING NEXT YEAR, I CAN'T FIT IT ALL ON ONE SLIDE OR I'D HAVE TWO OR THREE, BUT I WANTED TO SHARE WITH YOU THE POWER THE ADVOCACY GROUPS BECAUSE NUMBERS SPEAK VOLUMES. THIS IS ONLY PUBLIC FUNDING. I SAID WELL, I BROUGHT THIS SLIDE TO CONGRESS AND I SAID, YOU KNOW, I ADVOCATE USING THIS INFORMATION TO SHOW THAT WE NEED INCENTIVES. ALSO, IT SHOWS OUR PROGRESS. IT SHOWS THE IMPORTANCE OF OUR WORK. I DIDN'T RAISE THAT MONEY. THERE'S NOWHERE IN THE WORLD TO RAISE THAT MONEY WITH LESS THAN 250 PATIENTS IN THE WORLD TO GET THAT KIND OF INFORMATION. IT WAS OUR DATA AND IT WAS THE PATIENT GROUP BEHIND THIS AND BEING AVAILABLE TO GIVE US THE DATA THROUGH OUR DATABASE. WHICH, WITH OUR LETTERS OF SUPPORT AND PRELIMINARY DATA LIKE GERALDINE WAS SAYING IN THE PANEL BEFORE, GIVE THAT INFORMATION TO SUPPORT THE GRANT THE RESEARCHERS ARE APPLYING FOR TO SHOW THERE'S PLAUSIBLE EVIDENCE BEHIND THEIR THEORIES. WHEN YOU DO, YOU'RE GOING TO WIN TO THE MONEY. NO QUESTION YOU NEED AS MUCH AS SUPPORT AND WE STARTED OUT AND YOU CAN SEE THE NUMBERS KEPT RISING AFTER THE ORGANIZATION WAS ESTABLISHED. ANOTHER THING THAT'S GREAT FOR RESEARCHERS IS PUBLICATIONS. THESE ARE ALL THE PUBLICATIONS THROUGH SYNGAP 1 OVER THE YEARS AS WE HAVE INCREASED OUR ADVOCACY EFFORTS TO TRY AND FIND OUT WHAT THIS GENE DOES AND HOW IT AFFECTS OTHER THINGS AROUND IT. SO I KIND OF PUT DOWN ON THE HISTORY OF WHERE OUR MARKERS WERE AND THE THINGS WE DID IN PARALLEL TO WHERE THOSE THINGS HAPPENED IN THE SPACE OF TIME. AND WHAT YOU DO AS AN ADVOCACY ORGANIZATION AND PLANNING YOUR EVENTS INCENTIVIZING THINGS AND YOU CAN SEE PROGRESS BEING MADE. I WANTED TO PUT THAT TOGETHER AND HOPE I DID NOT GO OVER MY SEVEN MINUTES BECAUSE YOU SPLAY TO GET THE STAGE HOOK AFTER ME. I JUST WANTED TO SHARE A LITTLE BIT OF OUR HISTORY AND THAT MY MOTTO IS YOU CAN'T EVER STOP. PEOPLE DEPARTMENT ON YOU AND I MADE A COMMITMENT AND OUR PROGRESS AND OUR COMMUNITY WILL BE BETTER FOR IT AND NOT ONLY OUR COMMUNITY BUT WHAT WE FIND OUT ABOUT OUR GENE IS GOING TO AFFECT THE OTHER THINGS THAT HANG OUT AROUND IT LIKE THE SHANK 3 WITH THE PHELAN-McDERMID AND I CAN GO DOWN THE LIST OF THE NEURODEVELOPMENT DISORDERS AND HOW THIS INFORMATION WILL FIT INTO A PUZZLE PIECE THAT WILL HELP SOMEONE ELSE ALONG THE WAY. SO I THANK YOU AND IMMIGRATEFUL FOR YOU LETTING ME SHARE TODAY. >> I'M AN ODD DUCK HERE I WAS A PROGRAM DIRECTOR HERE AT NINDS FOR 10 AND THEN WORKED IN PATIENT ADVOCACY FULL-TIME THREE YEARS AND CURRENTLY RETIRED. IT'S REALLY GOOD. BUT I'M STILL CONSULTING WITH A NUMBER OF GROUPS. SO TO THE SECOND BULLET LIKE I SAID I'M NOT REPRESENTING A CERTAIN GROUP I WAS ON A BOARD DURING A CRITICAL TIME WITH THE APPROVAL OF WHAT THEY'VE BEEN ABLE TO DO WITH THAT AND I'VE DONE A WORKSHOP AND I WAS EMPLOYED BY A FOUNDATION FOR A WHILE AND STILL CONSULTING ON A REGULAR BASIS WITH THEM AND I WORKED WITH PARENT PROJECT MUSCULAR DYSTROPHY FOR A WHILE AFTER LEAVING HERE. I CAN'T GIVE YOU MUCH BACKGROUND ON THE MUSCULAR DISEASES I'VE WORKED WITH BECAUSE IT'S A WIDE SPECTRUM BUT THEY'RE PRETTY SERIOUS AND MONOGENETIC AND MANY AND MOST HAVE INFINTILE ONSET AND INFANTILE ONSET AND THERE'S IMPORTANT STORIES AND I CAN'T BEGIN TO TOUCH SO I'LL GIVE EXAMPLES OF WHAT'S GOING ON HERE. NORMALLY CERTAIN PATIENTS CAN'T LIFT THEIR HEAD OFF THE PILLOW AND DIE IN ABOUT 18 MONTHS AND WITH SPINRAZA THE KIDS ARE WALKING. WE'RE ALL LOOKING FOR LEVEL OF EFFECT ON OUR DRUGS. WE'RE NOT GOING GET THAT WITH MOST DISEASES HONESTLY. THAT'S A 100% TURNAROUND. WE HAVE TO SEE HOW KIDS DO LATER WITH THE LACK OF PROTEIN AND OTHER ISSUES WILL HAVE PROBLEMS LATER AND RIGHT NOW SOMEONE WHO COULDN'T LIFT THEIR HEAD OFF THEIR PILLOW IS WALKING. DUCHENNE HAS ALSO SEEN DRUG APPROVES. ACROSS THE NEUROMUSCULAR DISEASE LANDSCAPE THEY'VE BEEN PERCEIVED AS TRACTABLE BY INDUSTRY. THAT'S ABOUT WHAT YOU HAVE TO DO IN THE ADVOCACY FIELD IS SHOW YOUR DISEASE MEETS THE CRITERION THAT'S TRACKABLE AND PIECES ARE IN PLACE AND THERE'S A PATH TO REGULATORY APPROVAL FOR YOUR DISEASE AND ALL THE THINKING HAS TO BE AROUND THAT BECAUSE ULTIMATELY WE'RE ALL TRYING TO GET APPROVAL. S. THERE'S BEEN AN INCREASE AND THE ANNUAL FUND FROM NIH FOR MUSCULAR DYSTROPHIES PUT TOGETHER IS ABOUT $81 MILLION. THE ANNUAL FUNDING FOR SMA IS $12 MILLION. THERE'S BEEN PROGRESS AND WE'VE LEVERAGED A LOT OF MECHANISMS. YOU HEARD ABOUT NINDS' TRANSLATIONAL PROGRAM AND THE WORK THAT BECAME THE SOON TO BE APPROVED GENE THERAPY ALSO FOR SMA WAS LEVERAGED BY NINDS TRANSLATIONAL FUNDING AS WERE OTHER GRANTS. A PRODUCT LICENSED MAYBE ABOUT A YEAR AGO BY SEREPTA. YOU TAKE ADVANTAGE OF WHATEVER YOU CAN GET. THE TRANSLATIONAL PROGRAMS AND CENTER GRANTS IF THERE'S THOSE IN YOUR FIELD, EVERYTHING AND ANYTHING. TRY TO LEVERAGE THAT WITH LETTERS OF SUPPORT, WITH SEED FUNDING. I'VE BEEN IN NIH STUDY SECTION pWHERE'S REVIEWERS FOR THE TRANSLATIONAL PROGRAMS WHERE REVIEWERS HAVE COMMENTED ON THE IMPORTANCE OF PATIENT ADVOCACY GROUP SUPPORT WHETHER IT'S LETTER OF SUPPORT, WILLINGNESS TO HELP FIND PATIENTS OR WHETHER THERE'S MATCHING DOLLARS THERE AND IT MAKES AN IMPRESSION ON NIH STUDY SECTION REVIEWERS. I UNDERSCORE THAT POINT HEARD EARLIER TODAY. HOW DO WE FOSTER RELATIONSHIPS TO DERISK THE DISEASE TO SHOW IT'S TRACTABLE? MEETINGS IS ONE TOPIC WITH ACADEMICS AND COMPANIES AND NIH AND REGULATORS BOTH FDA AND EMA AND OTHER PATIENT ADVOCACY GROUPS. THE SPLINTERING AMONG ADVOCACY GROUPS IN A FIELD LIKE DUCHENNE ALMOST MAKES ME WONDER HOW THEY EVER GOT THE DRUGS BECAUSE THERE'S A LOT OF SPLINTERING AND A LOT OF GROUPS. THERE'S A LOT OF KID SPECIFIC GROUPS THAT ARE SORT OF BUILT AROUND AN INDIVIDUAL PATIENT AND WHEN THERE'S A LOT OF THEM, WHAT THE HECK IS GOING ON THERE? THEY CAN FOSTER THINGS BETTER BY WORKING TOGETHER. I THINK YOU NEED TO HELP THAT. REALLY TRYING TO ORGANIZE THESE TYPES OF MEETINGS TO SERVE AS A CONVENER TO WORK TOGETHER IS IMPORTANT. FIRST POINT HERE IS ONE OF THE REAL PROBLEMS WITH RARE DISEASES PARTICULARLY PEDIATRIC. ANECDOTES DON'T FIT THE FDA'S EVIDENTIARY STANDARDS FOR APPROVAL. I THINK THAT'S BEEN BEHIND SOME OF THE DRUG FAILURES. SOME OF THE DUCHENNE DRUGS WERE HYPED HEAVILY AND FAILED MISERABLY IN APPROVAL AND RE-ANALYZING DATA AFTER IT'S ALREADY IN HAND. FDA DOESN'T LIKE THAT AND MAINTAINING A HIGH STANDARD AND RECOGNIZING AND ACCEPTING STANDARD IN DRUG DEVELOPMENT IS CRUCIALLY IMPORTANT. I'LL MAKE THAT POINT IN ANOTHER SLIDE IN A MOMENT. COMPELLING ACADEMIC DATA ISN'T EQUIVALENT TO A BIOTECH PHARMA LEAD. IT CAN BE COMPELLING BUT IT'S SORT OF DISCOVERY, EXPLORATORY DATA EVEN IF IT PRODUCE A GOOD PAPER. IT DOESN'T MEAN IT'S A SOLID DEVELOPMENT. GO INTO THERAPY WHAT WE'VE DONE IS ESTABLISH CREDIBILITY WITH PHARMA TO SHOW YOU CAN DELIVER ON CERTAIN THINGS. YOU CAN HELP PROVIDE PATIENTS AND YOUR KNOWLEDGEABLE ABOUT THE DISEASE. HAVING MEETINGS WHERE WE WOULD GO TO CAMBRIDGE AND HOP FROM PHARMA TO PHARMA, BIOTECH TO BIOTECH WITH A ROAD SHOW WE BASICALLY SHOWED OUR DISEASES TRACKABLE AND WHY GIVING THEM CONCRETE DATA TO HELP THEM INVEST IN THE DISEASE. THEY'RE NOT GOING INVEST IT. IT'S A PRAGMATIC BUSINESS DECISION. THEY WON'T INVEST UNLESS THERE'S IMPORTANT DATA TO SUPPORT IT. FINALLY SUCCESS COMES FROM WORKING WITH PARTNERS IN THEIR LANGUAGE AND YOU NEED TO UNDERSTAND THE LINGO AND WHAT'S IMPORTANT TO THEM. HERE'S THE DETRACTABILITY. THEY HAVE A PROGRAM LAUNCH AND HOPEFULLY GET TO AN APPROVED DRUG. FOLLOWING THAT PATH. WHEN YOU'RE ENGAGING WITH PEOPLE. ONE OF THE THINGS WE'VE DONE IS DEVELOP A COMPANY ENGAGEMENT POLICY. AND IT ADDRESSES ALL THE ISSUES I SAY, BOUNDARIES ON WHAT WE WILL AND WON'T DO AS A PATIENT ORGANIZATION CON FLIKT -- CONFLICT OF INTEREST AND TRY TO FACILITATE ACROSS THE BOARD AND ETHIC ETHICAL STANDARDS. IN TERM OF CLARITY ON BOUNDARIES WHAT WE SAY IS WE WILL SUPPORT YOUR DRUG BUT WE WANT THE BACKGROUND TO STAND ON ITS OWN AND SAY WE SUPPORT APPROVAL OF THIS DRUG BECAUSE WE THINK THAT CAN LEAD TO THE WRONG OUTCOME. WE WANT THE DATA TO SUPPORT THE APPROVAL. WE'LL HELP PUT PATIENTS UP THERE AND HELP YOU IDENTIFY PATIENTS BUT WE AS AN ORGANIZATION WON'T TAKE AN OFFICIAL POSITION THAT WE WANT THIS DRUG APPROVED. pTHE DATA HAS TO SPEAK FOR ITSELF. FINALLY THERE'S AN AGNOSTIC APPROACH AS AN ORGANIZATION. YOU HAVE TO SUPPORT ALL THERAPEUTIC STRATEGIES AND MODALITIES WHETHER IT'S GENE OR CELL BASED OR LARGE OR SMALL MOLECULE DRUGS AND WE'LL SUPPORT ALL BIOTECH COMPANIES. WE DON'T WANT TO GET IN BED WITH ONE PARTICULAR COMPANY AND THE OTHER COMPANIES FEEL THEY CAN'T COME TO US. DRUG DISCOVERY IS NOT THIS SIMPLE. YOU DON'T ADVANCE FROM START PROGRAM POINT A TO HAVING AN APPROVED DRUG AT POINT B. IT'S NOT LINEAR LIKE THIS. IT'S NON-LINEAR. YOU'LL HAVE FITS AND STARTS AND HARD STOPS IN PROGRAMS. SO YOU HAVE TO ACCEPT THAT AND EMBRACE THAT. YOU HAVE TO FIGURE OUT HOW TO DERISK ALL STAGES OF THIS PIPELINE. EARLY STAGE IS JUST AS IMPORTANT AS LATE STAGE. I CAN BLOCK YOUR PROGRAM AS EASILY. YOU HAVE TO FIGURE OUT HOW TO FACILITATE THIS AND THEN ACCEPT YOU'LL HIT NO-GO AND THE PROGRAM MAY STOP. THE INITIATIVE HAD A WORKSHOP AND PRODUCED A WHITE PAPER IN 2015. I THINK THAT'S HUGELY IMPORTANT. AND THEY HAD A FIGURE THAT LOOKED CLOSE TO THIS WHERE THEY SHOWED WHERE KIND OF THINGS COULD BE DONE AT DIFFERENT STAGES TO FACILITATE. IT SHOWED THE FULL RANGE OF THINGS YOU COULD DO AND WE SAID THIS SAY CHECKLIST. WE NEED TO CHECK ALL THESE THINGS OFF. WE NEED TO DO ALL THESE THINGS. IF THEY'RE SAYING CHIS IS WHAT WE CAN DO, WE TREATED IT AS THESE THE THINGS WE MUST DO. I CAN'T POSSIBLY GO THROUGH THIS pBUT I THINK YOU CAN SEE THE ACTIVITIES FROM RESEARCH GRANTS FOR DISCOVERY TO DEVELOPING ANIMAL MODELS TO HOLDING A MEETING WITH FDA. ENGAGING PATIENT GROUPS IN THERAPY DEVELOPMENT, CITY, CTTI. IT COMES UP AS THE THIRD HIT, I BELIEVE. LEARNING HOW TO LEAD AS AN ORGANIZATION. FIRST HAVING FLEXIBILITY AND HOW TO EVALUATE OPPORTUNITIES AND RESOURCE. WE HAD A LARGE DONOR COME TO US AT MDF WANTING TO DO GENOME EDITING. BIG SURPRISE. THE HOT AREA RIGHT NOW. THE FIRST CONCERN IS WHAT THE DONOR EXPECTED. ONE MINUTE. SO WE SAID TO THEM YOU KNOW YOU WON'T BE IN THE CLINIC NEXT YEAR AND HAD A WORKSHOP TO SHOW WHAT WOULD BE NEEDED AND THERE WAS ONLY ONE PERSON THERE. EVERYONE ELSE WAS GENOME EDITING. THAT WAS INTENTIONAL BECAUSE WE WANTED TO TAP THE PEOPLE WITH THINGS WERE HAPPENING. IN TERMS OF EVALUATING AND APPROVING PRE-CLINICAL AND READINESS THERE'S CLINICAL PATH INNOVATION AND THE DUCHENNE FIELD DID THAT WITH ANALYSIS OF DYSTOPIN. SAID WHAT ELSE IS NEEDED?ESS AND WE'LL TRY TO GET THE COMPANIES TO FUND THOSE ACTIVITY. I MENG THE PATIENT-FOCUSSED DRUG DEVELOPMENT MEETINGS. IF YOU LOOK AT THE MDF EXAMPLES, THAT'S A GOOD WAY TO GO. NOTHING MAKES THE REGULATORS UNDERSTAND THE BURDEN OF DISEASE IN YOUR DISEASE LIKE A PFDD MEETING, GETTING PATIENTS AND CAREGIVERS UP THERE IN THE FDA HEARING FROM THEM AND FINALLY LOOK AHEAD AND PLAN FOR SUCCESS AND NOT FEAR SUCCESS. THE APPROVAL CAME QUICKER THAN THE PATIENT ORGANIZATION EXPECTED THAN EVEN THE COMPANY EXPECTED. AND ALL OF A SUDDEN YOU HAVE REIMBURSEMENT ISSUES. YOU HAD NEW-BORN SCREENING ISSUES YOU HAD TO TAKE CARE OF. I THINK IT'S A GREAT BUSINESS TO BE IN AND AT THE END OF LIFE CAN FEEL GOOD ABOUT WHAT WE'VE DONE IN THE FIELD AND LOOKING AT EXAMPLES OF WHAT OTHER GROUPS HAVE DONE IS AN IMPORTANT WAY TO GO. THANKS. >> SO MUCH INFORMATION. I'M TERRY KLEIN. I MANAGED TO TAKE LOTS OF NOTES OVER THE LAST TWO DAYS BECAUSE I BEGAN CHANGING WHAT I WANTED TO SAY AND ADDRESS IMPORTANT TOPICS FOR THE NATIONAL MPS SOCIETY AND LET ME TALK ABOUT WHAT WE DO AND HOW WE'VE EVOLVED BECAUSE WE'RE A PATIENT ADVOCACY ORGANIZATION THAT WORKS WITH CHILDREN WITH GENETIC LYSOSOMAL STORAGE DISEASES AND THEY HAVE THE INABILITY TO CLEAN OUT THEIR CELLS AND THE DISEASE IS PROGRESSIVE AND TERMINAL AND HAVE TREATMENTS FOR SOME KIDS AND ADULTS BUT ALSO WE DON'T HAVE TREATMENTS AND IT LAYS THE LANDSCAPE. WE DON'T KNOW ON ANY GIVEN DAY IF WE'LL HAVE NEWS FOR A FAMILY THAT'S POSITIVE OR WILL BE DEVASTATE. WE'RE AN UMBRELLA ORGANIZATION AND WE'VE GONE AND WE IS A -- WE'VE GROWN AND CARRY A FOUR-STAR CHARITY RATING. THIS IS IMPORTANT TO THE ORGANIZATION AND TO ME BECAUSE MY BACKGROUND WAS IN DEVELOPMENT WORK AND FISCAL RESPONSIBILITY AND LEARNING HOW TO STRETCH THE DOLLAR AFTER WE RAISE THE DOLLAR IS IMPORTANT TO US. WE HAVE OVER $10 MILLION WE HAVE IN DIRECT RESEARCH AND AN ADDITIONAL $40 MILLION FUNDED BY THE NIH. OVER $1.5 MILLION IS GIVEN IN DIRECT FAMILY SUPPORT AND NOW CLOSING IN ON $2 MILLION AT THE END OF THE YEAR AND HAVE NEW PROGRAMS WE'VE DEVELOPED AROUND PATHWAYS, ADULT RESOURCES AND BEREAVEMENT PROGRAMS. I WANT TO MARRIAGE IN THIS PRESENTATION QUICKLY HOW IMPORTANT IT IS WE CHAMPION RESEARCH BUT WE ALSO RECOGNIZE IT AS RESEARCH UNFOLDS WE HAVE TO SUPPORT FAMILIES ALONG THE WAY BECAUSE THESE DISEASE BOTH EMOTIONALLY AND FINANCIALLY CRIPPLING. WE ALSO ADVOCATE ON CAPITOL HILL. WE HAVE A 25-YEAR LEGACY OF CAMPAIGNING ON CAPITOL HILL. WE JUST GOT OFF THE HILL MONDAY. OUR REGISTRY START WITH A WONDERFUL FOUNDATION WHO APPROACHED US AND WE NEEDED TO BE ABLE TO EMBRACE AND COLLABORATE AND NOW HAVE OVER 21 FOUNDATIONS AND THE REGISTRY WENT TO OVER 1500 PATIENTS NOW. LET'S TALK ABOUT PATHWAYS FOR A MINUTE. IN THE LAST TWO YEARS WE HIRED SOCIAL WORKERS TO WORK WITH OUR FAMILIES. AT THE TIME OF OUR DIAGNOSE WE HAVE FAMILY MEMBERS TO DEAL WITH THE OUTCOMES. WE HAVE ADULTS WHO ARE MPS BECAUSE WE HAVE THERAPIES NOW IN THIS SPACE AND WHO KNEW WE'D HAVE ADULTS THAT WOULD BE LIVING WITH THE DISEASE WITH SECONDARY METABOLIC ISSUES. WE HAVE THE ADULT RESOURCE COMMITTEE AND SUPPORT THIS AS WELL. SADLY, WE HAVE A CYCLE CONFERENCE FOR BEREAVEMENT FAMILIES. THIS PAST SATURDAY AND SUNDAY WE HOST THE CONFERENCE FOR OUR BEREAVEMENT FAMILIES. THEY STILL WANT TO BE THERE TO SUPPORT AND TO ADVOCATE AND HELP UNDERSTAND SCIENCE AND MOVE IT FORWARD. LET'S TAKE A LOOK AT OUR PATIENT RESEARCH GRANT PROGRAM. I WANT TO SHOW YOU OUR EVOLUTION OF RESEARCH GRANTS. WE FUND BASIC RESEARCH, TRANSLATIONAL SCIENCE AND HAVE BEEN INVESTORS INSIDE PHARMACEUTICAL COMPANIES WHEN WE THOUGHT THAT SCIENCE WAS WORTHY OF INVESTMENT. WE HAVE DONE ALL THREE. WE DO RAISE MONEY AND WORK HARD AT DEVELOPING FUNDS AT THE NATIONAL MPS SOCIETY BUT LEARNED HOW TO STRETCH A DOLLAR. HOW CAN WE SPENT $325 TO PUT ON ANOTHER EVENT? HOW CAN WE TAKE THAT EVENT AND TAKE IT TO THE JUST EVENT THAT RAISED$300,000. WE TOOK IT TO A BAKE SALE AND ANOTHER EVENT AND ANOTHER EVENT AND RAISED AND RAISED AND ENDS UP HERE AND THE RESEARCH AND FAMILY SUPPORT ARE THE KEY CAP STONES OF THE SOCIETY. 65% OF OUR BUDGET GOES TO THE RESEARCH PROGRAM AND THE OTHER 35% GOES TO FAMILY SUPPORT. AND THESE ARE THE SYNDROMES WE SUPPORT AND THE NUMBER OF GRANTS THAT HAVE BEEN FUNDED SINCE 2001. MANY YEARS AGO WE HAD MEMBERSHIP DUES AND THIS IS IMPORTANT AND TRANSLATES BACK TO SCIENCE. WE CHARGED $5 IN 1978 AND THE DUES WENT UP TO $50. IT NEVER REALLY CHANGED BUT WENT TO $50 FOR A FAMILY TO BE A MEMBER OF THE NATIONAL MPS SOCIETY NOT COVERING THE COSTS BUT SOME COSTS AND MAYBE A BUY-IN TO THE ORGANIZATION. WHAT HAPPENED IF WE DROPPED THE FIRE WALL OR JUST REMOVED IT? FILL THE BUCKET ANOTHER WAY AND REACH BACK OUT TO THE FAMILIES THAT AREN'T RENEWING BECAUSE WE HAVE 670 FAMILIES. WITH THE SAME AMOUNT OF RESOURCES, SEVEN PEOPLE IN THE OFFICE WE DROPPED THE FIRE WALL AND HAVE ALMOST 2,000 ACTIVE MEMBERS OF THE NATIONAL MPS SOCIETY ACTIVE HOUSEHOLDS. THAT'S 1300 ADDITIONAL FAMILIES THAT WANT TO HELP SUPPORT, ADVOCATE AND RAISE FUNDS FOR RESEARCH. INCREDIBLE. OUR TIME LINE LOOKS DIFFERENT BUT I WANTED TO PUT IT OVER NOT TO GO OVER BUT I WANT TO ADDRESS A COUPLE THINGS QUICKLY. I WROTE SOMETHING DONE. WE WERE TALKING ABOUT HOW WE INSPIRE THE NEXT GENERATION OF RESEARCHERS. WELL, ONE WAY TO INSPIRE THE NEXT GENERATION OF RESEARCHER IS POSSIBLY GIVE BIRTH TO ONE OF THOSE. ONE OF THE STUDENTS BECAUSE THAT'S WHAT HAPPENED. MY DAUGHTER WAS DIAGNOSED AND HAS THE ATTENUATED FORM AND RECENTLY GRADUATED FROM NC STATE UNIVERSITY AND A JUNIOR SCIENTIST AT A RESEARCH FIRM AT NC STATE UNIVERSITY. WE'RE THRILLED FOR HER BUT SHE'S ALSO TAKING HER MCATS NEXT WEEK AS SHE GOES ON TO MEDICAL SCHOOL. AS RESEARCHER WE USUALLY TELL THE STORIES OF OUR WORK THROUGH COMMUNITY OR PUBLICATION AS FOCUSSED NARRATIVES THAT MAKE THE POSITIVE RESULTS FOREGONE CONCLUSION. WHAT WE DON'T CONVEY OFTEN ENOUGH IS THE SKIN IN THE TEETH AND CLOSE CALLS ABOUT SUSTAINING RESEARCH PROJECTS AND CAREERS AND FOCUS ON RARE DISEASES. OVER THE YEARS IT'S BEEN A LINCHPIN AND FOCUSSED ON ALL MPS DISEASES VIABLE AND SUSTAINABLE. WE ASK THAT QUESTION WITHIN OUR ORGANIZATION. WE HAVE TO ENSURE BEST RESEARCH IS HAPPENING. AND TRANSLATIONAL RESEARCH IS HAPPENING. IF WE DON'T FUND IT, WHO WILL? IF WE DON'T TAKE ON THE OPPORTUNITY TO FUND THIS CRITICAL, IMPORTANT RESEARCH AND IF FUND FELLOWS AND THE GORDON CONFERENCE AND LDN AND GO TO WORLD ORGANIZING RESEARCH FOR LYSOSOM DISEASES AND WHERE ARE WE? IT'S CONTINUE TO CONTINUE THE PHILOSOPHY IN THE SPACE AND WE CHAMPION THE RESEARCH LABS. WE HAVE TREATMENT FOR HALF OF OUR DISEASES AND WE'RE IN THAT PRECARIOUS POSITION WHERE SOME OF THE NEWEST SCIENCE OF GENE EDITING WITH THE CRSPR TECHNOLOGY HAPPENED WITH OUR HUNTER SYNDROME AND WE'RE IN THAT GENE THERAPY SPACE. WE'RE ALSO IN THE SPACE WHERE WE RECOGNIZE IT'S A PATIENT ADVOCACY GROUP AS WE MOVE TOWARDS OPTIONAL SCIENCE THAT'S HAPPENING FOR SOME OF OUR DISEASES. SOME OF OUR DISEASES DON'T HAVE SCIENCE AT ALL BUT WE HAVE NATURAL HISTORY STUDIES AND THE REGISTRY AND WE CHAMPION BEYOND NEWBORN SCREENING AND GO ON TO CAPITOL HILL AND ADVOCATE WHETHER IT'S THE 21st CENTURIES CURE OR THE NEWBORN SCREENING OR OUR OWN LANGUAGE FOR THE APPROPRIATIONS BILL. WE HAVE TO LEAD OTHER ORGANIZATIONS WITH SPECIFIC RESEARCH AND FORMED FOR SPECIFIC SYNDROME RESEARCH AND REALIZE THEY'RE NOT FRACTURED ORGANIZATIONS. I CAN'T STAND THAT WORD. WE'RE A COLLABORATOR. WE'RE A LEADER. WE HAVE TO BE ABLE TO BRING ALL THE GROUPS TOGETHER AND HAVE TO ADMIRE THE GROUPS THAT DO SINGLY DECIDE TO MOVE IN A DIRECTION TO MOVE FORWARD THE BALL IN A SPECIFIC SYNDROME RESEARCH BUT RECOGNIZE THAT'S RAISING AWARENESS TOO. IT'S OUR ROLE TO FIND THE COLLABORATIVE MOMENTS TO MEET WITH THE FDA AND NIH AND ANYTIME WE'RE ABLE TO GET TO THE TABLE WITH A COUPLE OF US TO DISCUSS A NEUROCOGNITIVE ISSUE AND END POINT DESIGN FOR CLINICAL TRIALS MEANINGFUL TO OUR FAMILIES WE DO THAT. WE WORK HARD AT COLLABORATIVE MOMENTS. THEY'RE VERY IMPORTANT TO US AND WE CAN'T OVERLOOK THAT. BEFORE I GO BACK, I WANT TO SAY ONE MORE THING. THE GROWTH OF THE ORGANIZATION, YOUR ALWAYS TRYING TO FIND THE PIVOT MOMENT WHERE YOU HAVE TO PIVOT OR TURN AND KEEPING MEASURES AND KEEPING THE PATIENT'S FOCUS FRONT AND CENTER. ONE OF THOSE CAME LAST YEAR WHEN WE REALIZED WITH NEWBORN SCREENING HOW DESPERATELY NEEDED THE ASSAYS WERE FOR NEWBORN SCREENING. WE WORKED WITH THE UNIVERSITY OF WASHINGTON TO GATHER ASSAYS FROM NINE STATES RIGHT NOW. WE'LL INCLUDE ANOTHER 22 STATES IN THE NEXT YEAR TO INCLUDE THAT INFORMATION. WE'RE OVERSEEING IT AT THE NATIONAL MPS SOCIETY. FAMILIES ARE ALWAYS ASKING ABOUT ORGAN DONATION. IT'S NOT WHAT WE DO BUT WHY DID WE SAY NO? INSTEAD IS THERE A PATH OR A WAY TO YES? WHAT WILL HAPPEN WITH SCIENCE IF WE CAN PROVIDE ORGANS WITH A NON-PROFIT ENTITY WHERE THERE'S NO PROFITS TAKEN BY US IT'S JUST CONNECTING THE DOTS. I THINK IT WAS THE MOST POPULAR E-MAIL I EVER SENT OUT BECAUSE RESEARCHERS FROM AROUND THE WORLD BOMBARDED ME WHEN THEY FOUND OUT THEY'D GET MORE BRAIN SAMPLES BECAUSE THEY'VE BEEN WORKING ON THE SAME BRAIN TISSUE 20 YEARS. THINK OUTSIDE THE BOX. ALL THINGS ARE POSSIBLE. THINK HOW TO RE-INVENT IF YOU THINK YOU'RE STALE AND ALWAYS REMEMBER THERE ARE OTHER ORGANIZATIONS LIKE WITH MONICA AND JOHN AND ALL OF YOU IN THE ROOM THERE'S OPPORTUNITIES LIKE THIS TODAY WE CAN COLLABORATE. THANK YOU. >> THANK ALL THREE OF YOU. I DON'T KNOW IF WE HAVE TIME. AS THE FOUR OF US WERE TALKING, WE CAME UP WITH COMMON THEMES WE RECOGNIZED ACROSS OUR ORGANIZATIONS. WE LISTED THEM HERE. YOU NEED A CRITICAL MASS OF RESEARCHERS. THERE'S A LOT OF ADVOCACY GROUPS CAN DO AND REGISTRIES HAVE BEEN A THEME. TO LEVERAGE FUNDING FROM THE DIFFERENT SOURCES FROM NIH AND PHARMA AND FINDING OTHER RARE DISEASE ORGANIZATIONS TO COLLABORATE WITH AND COMPOUND OUR DOLLARS. A STRONG THEME WAS BRINGING FAMILIES AND ORGANIZATIONS TOGETHER AND CREATING A ROOM WHERE ALL KINDS OF STAKEHOLDERS CAN BE TOGETHER AND HOW EACH PERSPECTIVE HAS A DIFFERENT DRIVE AND DIFFERENT GOAL FOR BEING IN THE ROOM. EACH DIFFERENT STAKEHOLDER BRINGS VALUABLE PERSPECTIVE AND WORKING TOGETHER CAN BE THE MOST IMPORTANT SPACE WHERE THE GOAL OF THE PEOPLE WITH THESE DISEASES IS FRONT AND CENTER TO DRIVE EFFORTS FORWARD. I DON'T KNOW IF THERE ARE QUESTIONS. I KNOW WE WENT OVER? ANYBODY WANT TO ASK QUESTIONS OF OUR SPEAKERS OR RECOGNIZE OTHER THEMES? [OFF MIC] >> TO THE ORGAN DONATION WHERE PEOPLE DON'T SURVIVE WITH ANEURYSMS. TO UNDERSTAND YOU WERE SAYING YOU'RE JUST A CONNECTOR SO IF WE HAVE FAMILIES THAT WANT TO DO SOMETHING WHERE IS THE CONNECTION? >> WE DON'T WORK WITH PAPERWORK. WE HAVE DETERMINED REPOSITORIES, NON-PROFIT ENTITIES WILLING TO WORK IN ORGAN DONATIONS. WE LET THE FAMILIES KNOW ABOUT THOSE RESOURCES SO THEY CAN BE ABLE TO DO THAT. EACH STATE IS VERY DIFFERENT BUT WE'VE BEEN SUCCESSFUL IN THE MARYLAND AREA AND WE HAVE DIFFERENT HUBS THAT ARE NON-PROFIT ENTITIES WORKING IN ORGAN DONATIONS WITH OUR FAMILIES. >> IS THAT WHERE YOU'RE BASED IN PENNSYLVANIA, PHILADELPHIA AND HAVE PATIENTS FROM ALL OVER AND CARE TAKERS FROM ALL OVER THE COUNTRY. IS THAT GOING TO BE BASED WHERE YOU HAVE A REPOSITORY? >> IT'S MORE REGIONAL BUT I'M HAPPY TO CONNECT YOU WITH OUR SOCIAL WORKER WHO WORKED IN THE SPACE WITH US. LET'S EXCHANGE INFORMATION AND IT'S MORE OF A REGIONAL BASE. ONE ENTITY MAY TAKE CARE OF FOUR OR FIVE STATES AND IT DEPENDS ON THE INSTITUTION THAT YOUR PATIENTS WITH BECAUSE SOME ARE A LITTLE BIT MORE EASIER TO GO THROUGH THE PROCESS AND SOMETIMES IT WORKS AND SOMETIMES IT DIDN'T. WE WERE SAYING NO FOR 45 YEARS AND WE SAID DO WE NOT HAVE SOMETHING WE SHOULD GIVE BACK OR THINK ABOUT THE FUTURE AND SCIENCE THAT NEEDS THIS TISSUE. >> IT'S FANTASTIC ON THE PREVENTIVE SIDE. >> YOU CAN ALSO IDENTIFY AN ACADEMIC INVESTIGATOR WITH THE INSTITUTIONAL AUTHORITY TO ASSEMBLE POST-MORTEM TISSUE AND FUNDING. >> THANK YOU VERY MUCH. >> THANK YOU. THANK YOU ALL VERY MUCH FOR YOUR COMPELLING STORIES. >> WELL, WE HAVE COME TO THE END OF THIS CONFERENCE. I HAVE TO SAY I HOPE EVERYBODY HAS LEARNED AS MUCH AS I HAVE SITTING IN THE ROOM. IT REALLY IS TRUE WE HEARD IT SEVERAL TIMES TODAY AND A FELT IT AS A DEPARTMEN CHAIR AND SO FORTH THE ROLE OFTEN OF AN ORGANIZATION LIKE NINDS AND THE NIH IS REALLY TO BE A CONVENER SUCH AS YOU ARE A CONVENER TO BRING PEOPLE TOGETHER WHO COME AT THE SAME ISSUE WITH THE SAME MISSION AND VISION FROM VERY DIFFERENT VANTAGE POINTS. I THINK THE SYNERGY YOU GAINED BY DOING THAT IS MAGNIFICENT. FOR ME, I THINK THE TAKE HOMELESSON FROM THE CONFERENCE IS WE CAN AS NINDS AND COMMITTEE THAT INCLUDES MANY OF YOU AS WELL, WE CAN ASSEMBLE A CONFERENCE THAT TEACHES FROM THE FRONT OF THE ROOM BUT THE NETWORKING THAT OCCURS THROUGHOUT THE ROOM AND DAY WHETHER THE SESSION IS FORMALLY ONGOING OR IN BREAK IS APPRECIATION. I THANK YOU ALL FOR BEING HERE. YOU ARE ARE WHAT MAKES THIS CONFERENCE WHAT IT IS. ON TO NEXT YEAR.