National Tuberous Sclerosis Association Inc

TSC CONFERENCE: FROM DNA TO HUMAN THERAPIES

2019 INTERNATIONAL TSC RESEARCH CONFERENCE

2023 INTERNATIONAL TSC RESEARCH CONFERENCE - THE GOALS OF THE 2023 INTERNATIONAL TSC RESEARCH CONFERENCE ARE TO (1) INSPIRE NEW RESEARCH DIRECTIONS BY EXPOSING TRAINEES AND RESEARCHERS FROM OUTSIDE THE FIELD AND BELONGING TO GROUPS UNDERREPRESENTED IN RESEARCH TO THE LATEST RESEARCH DEVELOPMENTS IN TSC OR OTHER RELEVANT FIELDS, AND (2) STIMULATE COLLABORATIVE RESEARCH TO ADDRESS UNMET MEDICAL NEEDS OF THOSE AFFECTED BY TSC AS WELL AS RELATED DISORDERS, INCLUDING EPILEPSY, AUTISM, LYMPHANGIOLEIOMYOMATOSIS (LAM), AND RARE DISEASES WITH OVERLAPPING PHENOTYPES. TSC IS AN AUTOSOMAL DOMINANT GENETIC DISORDER CHARACTERIZED BY ABNORMALLY REGULATED CELL GROWTH IN MANY ORGANS DUE TO A MUTATION IN EITHER OF THE TSC1 OR TSC2 GENES. TOWARD THE FIRST GOAL, THE TSC ALLIANCE AND ORGANIZING COMMITTEE WILL (A) SPONSOR A HALF-DAY TSC EARLY CAREER RESEARCH SYMPOSIUM THE MORNING BEFORE THE MAIN CONFERENCE BEGINS; (B) UTILIZE TRAVEL AWARDS TO BRING TRAINEES AND JUNIOR FACULTY SELECTED FROM SUBMITTED ABSTRACTS TO THE EARLY CAREER RESEARCHER SYMPOSIUM AND RESEARCH CONFERENCE TO ENGAGE WITH OTHER TRAINEES AND EARLY-STAGE INVESTIGATORS REGARDING ISSUES UNIQUE TO THEIR CAREER STAGE, SHARE THEIR DATA IN PLATFORM AND POSTER PRESENTATIONS WITH FEEDBACK ON THEIR SCIENCE AND ON THEIR PRESENTATION SKILLS, AND EXPOSE THEM TO BROADER RESEARCH OPPORTUNITIES (E.G., INDUSTRY, PATIENT ADVOCACY) IN THE FIELD OF TSC AND RELATED DISORDERS; AND (C) INCREASE THE DIVERSITY OF ATTENDEES BY RESERVING HALF OF THE TRAVEL AWARDS FOR SCIENTISTS WHO BELONG TO UNDERREPRESENTED GROUPS IN RESEARCH, INCLUDING SCIENTISTS WITHOUT DATA TO PRESENT ON TSC-RELATED WORK. TOWARD THE SECOND GOAL, THE CONFERENCE WILL (A) ASSEMBLE NON-TSC-FOCUSED RESEARCHERS TOGETHER WITH TSC EXPERTS IN AN ENVIRONMENT CONDUCIVE TO SHARING DATA, NETWORKING, AND BUILDING OPPORTUNITIES FOR FUTURE COLLABORATION; (B) UTILIZE BREAKOUT SESSIONS TO DISCUSS RELEVANT INTERDISCIPLINARY TOPICS; AND (C) EMPLOY PLATFORM SESSIONS SPECIFICALLY TO FACILITATE CROSS-SPECIALTY UNDERSTANDING BY COMBINING IN THE SAME SESSION—TO THE EXTENT REASONABLY POSSIBLE—BASIC, TRANSLATIONAL, AND CLINICAL RESEARCH DATA. TO ENSURE CONCEPTS PRESENTED DIFFER MEANINGFULLY FROM PREVIOUS CONFERENCES, NONE OF THE 12 INVITED SPEAKERS WERE INVITED SPEAKERS AT THE TSC ALLIANCE-SPONSORED 2021 VIRTUAL OR 2019 IN-PERSON INTERNATIONAL TSC RESEARCH CONFERENCES, AND ONLY ONE WAS AN INVITED SPEAKER AT RECENT CONFERENCES SPONSORED BY THE UK TSC ASSOCIATION AND THE LAM FOUNDATION. TO ENSURE NEW INDIVIDUALS ARE INVOLVED IN SHAPING THE 2023 CONFERENCE, 83% (10 OF 12) OF THE INVITED SPEAKERS AND 25% (3 OF 12) OF THE ORGANIZING COMMITTEE DID NOT EVEN ATTEND THE TSC ALLIANCE-SPONSORED 2021 VIRTUAL OR 2019 IN-PERSON INTERNATIONAL TSC RESEARCH CONFERENCES. TO FACILITATE INTERACTION OF RESEARCHERS WITH PATIENTS, AN EDUCATIONAL MEETING FOR PATIENTS WITH TSC AND/OR CAREGIVERS WILL BE HELD ON SATURDAY IN THE SAME HOTEL AS THE RESEARCH CONFERENCE. THE CLOSE PROXIMITY ENABLES RESEARCHERS TO INTERACT WITH PATIENTS AT MEALS, AND A 1-HOUR JOINT SESSION INCLUDING PATIENTS WILL CONCLUDE THE RESEARCH CONFERENCE ON SATURDAY, GIVING PATIENTS AN OPPORTUNITY TO HEAR ABOUT KEY RESEARCH FROM, AND ASK QUESTIONS OF, INTERNATIONAL TSC INVESTIGATORS.

2017 INTERNATIONAL RESEARCH CONFERENCE ON TSC AND LAM

2013 INTERNATIONAL RESEARCH CONFERENCE ON TUBEROUS SCLEROSIS COMPLEX AND RELATED

2025 INTERNATIONAL TSC RESEARCH CONFERENCE - TUBEROUS SCLEROSIS COMPLEX (TSC) IS A RARE, LIFE-THREATENING DISORDER CAUSED BY GERMLINE OR SPORADIC MUTATIONS IN TSC1 OR TSC2 GENES (1). INDIVIDUALS WITH TSC ARE AT HIGH RISK OF EPILEPSY, AUTISM AND OTHER NEUROPSYCHIATRIC CONDITIONS, AND OTHER MANIFESTATIONS IMPACTING THE SKIN, LUNGS, BRAIN, AND KIDNEYS (1). THE SPECIFIC AIMS OF THIS INTERNATIONAL CONFERENCE ARE TO [1] INSPIRE NEW RESEARCH DIRECTIONS BY EXPOSING TRAINEES AND RESEARCHERS FROM OUTSIDE THE FIELD TO THE LATEST RESEARCH DEVELOPMENTS IN TSC AND OTHER RELEVANT FIELDS, AND [2] STIMULATE COLLABORATIVE RESEARCH TO ADDRESS UNMET MEDICAL NEEDS OF THOSE AFFECTED BY TSC AS WELL AS RELATED DISORDERS, INCLUDING EPILEPSY, AUTISM, LYMPHANGIOLEIOMYOMATOSIS (LAM), AND RARE DISEASES WITH OVERLAPPING PHENOTYPES. THESE AIMS ARE IMPORTANT AND TIMELY BECAUSE: • THIS CONFERENCE BUILDS UPON RECOMMENDATIONS PUBLISHED IN 2016 FROM AN NINDS-SPONSORED WORKSHOP TO UPDATE A 10-YEAR RESEARCH PLAN FOR TSC (2). • NEUROLOGICAL (E.G., EPILEPSY) AND PSYCHIATRIC ISSUES HAVE A SEVERE IMPACT ON QUALITY OF LIFE IN INDIVIDUALS WITH TSC AND RELATED DISORDERS. DESPITE USE OF MULTIPLE ANTI-SEIZURE MEDICATIONS, TREATMENT FAILS IN APPROXIMATELY TWO-THIRDS OF CASES BECAUSE THE UNDERLYING RELATIONSHIP OF SEIZURE TYPES AND SEVERITY TO NEUROPATHOLOGY AND GENETICS IS POORLY UNDERSTOOD (3). • ALTHOUGH THE MTOR INHIBITORS SIROLIMUS AND EVEROLIMUS HAVE BEEN APPROVED BY THE FDA FOR TREATMENT OF LAM, FOCAL-ONSET SEIZURES, AND SPECIFIC BRAIN, RENAL, AND SKIN TUMORS ASSOCIATED WITH TSC, MTOR INHIBITION ONLY SHRINKS AND STABILIZES LAM PROGRESSION AND TUMOR GROWTH. TUMORS WILL GROW AGAIN IF DRUG TREATMENT IS STOPPED, SO A NEED FOR MORE LONG-LASTING AND MORE TOLERABLE TREATMENTS EXISTS. • CLINICAL TRIALS TO FIND WAYS TO BETTER TREAT OR PREVENT EPILEPSY, NEUROPSYCHIATRIC DISORDERS, AND TUMOR GROWTH REQUIRE INTERNATIONAL COLLABORATIONS TO ACHIEVE ADEQUATE STATISTICAL POWER IN A RARE DISEASE WHOSE PHENOTYPE VARIES FROM PERSON-TO-PERSON. THE CONFERENCE WILL ACHIEVE ITS AIMS THROUGH: • SPONSORING A HALF-DAY TSC EARLY CAREER RESEARCHER (ECR) SYMPOSIUM ON JUNE 26, BEFORE THE MAIN CONFERENCE BEGINS, AND BY INCLUDING ECRS AND SENIOR RESEARCHERS IN ALL PLENARY SESSIONS JUNE 26-28. • BRINGING TRAINEES AND JUNIOR FACULTY SELECTED FROM SUBMITTED ABSTRACTS TO THE EARLY CAREER RESEARCHER SYMPOSIUM AND RESEARCH CONFERENCE TO (A) ENGAGE WITH OTHER TRAINEES AND EARLY-STAGE INVESTIGATORS REGARDING ISSUES UNIQUE TO THEIR CAREER STAGE, (B) SHARE THEIR DATA IN PLATFORM AND POSTER PRESENTATIONS WITH FEEDBACK ON THEIR SCIENCE AND ON THEIR PRESENTATION SKILLS, AND (C) EXPOSE THEM TO BROADER RESEARCH OPPORTUNITIES (E.G., INDUSTRY, PATIENT ADVOCACY) IN THE FIELD OF TSC AND RELATED DISORDERS. • ASSEMBLING RESEARCHERS AT ALL CAREER LEVELS AND WITH VARIOUS DEGREES OF TSC-SPECIFIC EXPERIENCE IN AN ENVIRONMENT CONDUCIVE TO LEARNING, NETWORKING, AND BUILDING OPPORTUNITIES FOR FUTURE COLLABORATION. • PLATFORM SESSIONS DESIGNED SPECIFICALLY TO FACILITATE CROSS-SPECIALTY UNDERSTANDING BY COMBINING IN THE SAME SESSION—TO THE EXTENT REASONABLY POSSIBLE—BASIC, TRANSLATIONAL, AND CLINICAL RESEARCH DATA. THE TSC ALLIANCE IS UNIQUELY QUALIFIED TO HOST THIS CONFERENCE BECAUSE IT IS THE LARGEST TSC-FOCUSED PATIENT ADVOCACY ORGANIZATION IN THE WORLD AND HAS A LONG-STANDING HISTORY OF INTERNATIONAL INCLUSION WITHIN THE TSC COMMUNITY. THE TSC ALLIANCE’S MISSION IS TO IMPROVE QUALITY OF LIFE FOR EVERYONE AFFECTED BY TSC BY CATALYZING NEW TREATMENTS, DRIVING RESEARCH TOWARD A CURE, AND EXPANDING ACCESS TO LIFELONG SUPPORT. TSC ALLIANCE PARTICIPATES IN AND OBTAINS FUNDING TO SUPPORT TSC INTERNATIONAL, A CONSORTIUM OF TSC PATIENT ADVOCACY ORGANIZATIONS AROUND THE WORLD. THE TSC ALLIANCE ALSO EXPANDS TSC RESEARCH AND ACCESS TO CLINICAL CARE THROUGH FORMAL PARTNERSHIPS CALLED GLOBAL ALLIANCES IN CANADA, HUNGARY, INDIA, ISRAEL, MEXICO, AND THAILAND. IMPORTANTLY, THIS CONFERENCE DIFFERS FROM RECENT TSC ALLIANCE-SPONSORED CONFERENCES: • TO ENSURE CONCEPTS PRESENTED DIFFER MEAN

2015 INTERNATIONAL TUBEROUS SCLEROSIS COMPLEX RESEARCH CONFERENCE: FROM TREATMENT TO PREVENTION

SUMMIT ON DRUG DISCOVERY IN TUBEROUS SCLEROSIS COMPLEX AND RELATED DISORDERS