DUP 15Q ALLIANCE

PROGRAM: SCIENTIFIC AND CLINICAL INITIATIVES THE DUP15Q ALLIANCE STANDS AT THE FOREFRONT OF COLLABORATIVE EFFORTS WITH STAKEHOLDERS IN ACADEMIC, CLINICAL, AND PHARMACEUTICAL SPACES. IN 2023-24, WE CO-FUNDED A GRANT OF 100,000 WITH CURE EPILEPSY ON A PROJECT AIMING TO DEVELOP A NEW REPRESENTATIVE DUP15Q MOUSE MODEL WITH VARYING LEVELS OF UBA3E (GENE), A VALUABLE TOOL FOR STUDYING THE SYNDROME AND TESTING POTENTIAL THERAPIES. WE ORCHESTRATED A LONGITUDINAL RESEARCH PROJECT DURING OUR 2023 FAMILY CONFERENCE USING FOLLOW-UP DATA COLLECTION AND BIOLOGICAL SAMPLES IN AN ONGOING STUDY OF DUP15Q CHANGES OVER TIME. WE PROVIDED AN ADDITIONAL 38,500 TO THE NEWBORN SCREENING PROJECT, WHICH AIMS TO ADD MULTIPLE CHROMOSOME-15 CONDITIONS TO EARLY CHECK, A SCREEN FOR A VARIETY OF CONDITIONS AT BIRTH. WITH UPENN MEDICINE ORPHAN DISEASE CENTER, WE RAISED NEARLY 50,000 FOR A PROJECT FOCUSED ON UNDERSTANDING THE MOLECULAR PATHWAYS INVOLVED IN NERVOUS SYSTEM DEVELOPMENT AND FUNCTION IN MICE, PARTICULARLY IN THE CONTEXT OF AUTISM SPECTRUM DISORDERS, PROVIDING VALUABLE INFORMATION THAT CAN HELP DESIGN THERAPEUTIC STRATEGIES. THIS YEAR WE ALSO PROVIDED OVER 106,000 FOR THE GROWING LADDER LEARNING NETWORK, WHICH HOSTS A GLOBAL NETWORK OF PATIENT DATA, CONNECTS PROVIDERS TO SHARE VITAL INFORMATION, AND CONNECTS PHARMACEUTICAL PROFESSIONALS WITH LOCATIONS TO HOST CLINICAL TRIALS, WITH THE BENEFIT OF HAVING PATIENTS IN PLACE WHEN TRIALS BECOME AVAILABLE. CURRENTLY, THE 16 US AND 2 INTERNATIONAL DUP15Q CLINICS IN THE NETWORK CONNECT FAMILIES WITH HIGHLY SPECIALIZED MEDICAL PROVIDERS IN A VARIETY OF FIELDS WHO HAVE EXTENSIVE EXPERIENCE TREATING THIS RARE DISORDER. THIS COLLABORATION WITH THE ANGELMAN SYNDROME FOUNDATION ALLOWS US TO EXPAND OUR CLINICAL FOOTPRINT, IMPROVE ACCESS TO CARE, AND BRING TOGETHER A LARGER GROUP OF MEDICAL AND RESEARCH PROFESSIONALS AROUND THE WORLD.

CONFERENCE AND SCIENCE SYMPOSIUM: THIS YEAR WE HOSTED NEARLY 600 PATIENTS, FAMILY MEMBERS, CAREGIVERS, AND PROFESSIONALS FROM AROUND THE WORLD AT THE 12TH INTERNATIONAL FAMILY CONFERENCE AND SCIENCE SYMPOSIUM DURING A WEEK IN JULY, WHERE ATTENDEES FROM 42 STATES AND 13 COUNTRIES MADE NEW PERSONAL AND PROFESSIONAL CONNECTIONS, MET ONE-ON-ONE WITH CLINICIANS AND/OR GENETIC COUNSELORS, AND ATTENDED SESSIONS ON TOPICS SUCH AS GENETICS, CLINICAL TRIALS, BEHAVIORAL HEALTH, SEIZURES, GI ISSUES, AND MUCH MORE. SEVERAL POPULAR BREAKOUT SESSIONS WERE OFFERED, INCLUDING AGE- AND RELATIONSHIP- SPECIFIC SUPPORT GROUPS AND ROUND-TABLE DISCUSSIONS WITH RESEARCHERS. 102 INDIVIDUALS WITH DUP15Q SYNDROME ATTENDED AT NO COST AND HAD THE OPPORTUNITY TO EXPERIENCE OUR WELCOME PARADE, PARTICIPATE IN ACTIVITIES WITH AN OCCUPATIONAL THERAPIST, AND VISIT WITH FRIENDS IN OUR THEMED STAFFED CARE ROOMS AND AT THE BIRTHDAY BASH. OUR SCIENCE SYMPOSIUM HOSTED 113 RESEARCH AND CLINICAL PROFESSIONALS FOR 32 SPEAKER SESSIONS WITH AN ADDITIONAL 12 ABSTRACTS PRESENTED. WE PROVIDED OVER 70,000 IN COMPED REGISTRATION FEES, HOTEL NIGHTS, AND TRAVEL ASSISTANCE VIA SCHOLARSHIPS AND EARNED REWARDS, AND ADDITIONALLY, THE ALLIANCE COVERED OVER 117,000 IN DIRECT CONFERENCE COSTS ABOVE THOSE COVERED BY REGISTRATION AND SPONSORSHIP REVENUE.