STXBP1 Summit+ Family Meeting 2023 - Recordings

Science Day - 22 July 2023    •   Advocate Track - 23 July 2023

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Science Day - July 22 2023

Science Day: Part 1 Recording

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

Science Day: Part 2 Recording

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

Science Day: Part 3 Recording

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

Science Day: Part 4 Recording

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

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Full Day YouTube Livestream

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

A compilation of logos for various biomedical and biotech companies and organizations, including BOMARIN, CAPSIDA BIOTHERAPEUTICS, Encoded Therapeutics, Biogen, Horizon, Inspired by patients driven by science, RDLEA Rare Disease Legislative Advocates, Searchlight driven by science, GeneDx, Longboard Pharmaceuticals, Quiver Bioscience, Cure Epilepsy, and others, with a header thanking summit sponsors.