STXBP1 Summit+ Family Meeting 2023 - Recordings
Science Day - July 22 2023
Opening
Welcome: Charlene Son Rigby, MBA & Melissa Hioco - STXBP1 Foundation
Keynote: How Parents Can Drive Drug Development for Rare Disease: From Impossible to Possible: Allyson Berent, DVM, DACVIM - Foundation For Angelman Syndrome Therapeutics (FAST), Mahzi Therapeutics and Angelman Mom
Clinical Session
STXBP1 Clinical Update: Ingo Helbig, MD & Sarah Ruggiero, MS, LCGC - Children's Hospital of Philadelphia
Genetics 101: Katie Angione, MS, CGC - Children's Hospital of Colorado
Children’s Hospital of Colorado’s Neurogenetics Clinic: Margarita Saenz, MD & Scott Demarest, MD - Children's Hospital of Colorado
Cortical Visual Impairment in STXBP1-RD: Megan Abbott, MD - Children's Hospital of Colorado
Translational Research Session
State of Translational Research in STXBP1, ENDD Center Overview & ASO Development: Michael Boland, PhD - University of Pennsylvania
Progressing AAV gene therapy for STXBP1 encephalopathy: Mingshan Xue, PhD - Baylor College of Medicine
Featured Family Story: Heather & Clara Jones
Clinical Trial Readiness Session
Clinical Trial Readiness & Natural History Studies: Jennifer Tjernagel, Terry Jo Bichell, PhD & Charlene Son Rigby, MBA - Simons Foundation, COMBINEDBrain, Global Genes & STXBP1 Foundation
Neuropsychological Assessments: Andrea Miele, PhD - Colorado Children's Hospital
ENGAGE Study for STXBP1: Emma James, PhD - Encoded Therapeutics
The ORCA (Observer-Reported Communication Ability) Outcome Measure: Bryce Reeve, PhD - Duke University School of Medicine
Prospective, Multi-site Natural History Study for STXBP1: Katie Rose Sullivan, MS, LCGC - Children's Hospital of Philadelphia
Therapy Development Session
Metabolomics study and Biomarker Consortium: James Goss, PhD - STXBP1 Foundation
4-Phenylbutyrate Trial Update: Zachary Grinspan, MD, MS - Weill-Cornell Medicine
Be Ready. Be Real. Day - July 23 2023
Advocate Track: Part 1 Recording
Advocate Track: Justice for All: Leadership in Legislation, Policy, and Practice to Support Our Kids
Elizabeth A. Moran, JD - Arc of Colorado
Advocate Track: Part 2 Recording
Advocate Track: Benefits for your dependent child/adult including Medicaid & Social Security Disability - Why it's so hard to access benefits and what you can do about it
Spencer Bishins - licensed attorney & former Social Security Administration (SSA) disability decision writer
Luke Wheeland - The Arc Arapahoe, Douglas & Elbert Counties
Closing Recording
It's a Wrap!
Charlene Son Rigby, MBA & Melissa Hioco - STXBP1 Foundation
