2025 STXBP1 Summit+ Recordings
Family Meeting Saturday July 19, 2025
Meeting Kick-off, Family Story, STXBP1 in the Lab, STXBP1 in the Clinic
STXBP1 Family Story: Jon & Julianne Stickley - STXBP1 Parents
Trailblazing Together & Foundation Update: Charlene Son Rigby & Mark Quinlan, STXBP1 Foundation
Therapy Development for STXBP1: James Goss, PhD, STXBP1 Foundation
Gene Therapy Development in the Lab: Mingshan Xue, PhD, Baylor College of Medicine
Clinical Trials & Preparation for Patient Families: Scott Demarest, MD, Children’s Hospital Colorado
STXBP1 Clinical Update: Ingo Helbig, MD, Children’s Hospital of Philadelphia
Family Story, A Better Understanding of STXBP1 Disorders (part 1)
STXBP1 Family Story: Allison Michels, STXBP1 Parent
Your Data at Work: STARR Study Update: Sarah Ruggerio, MS, LCGC, Children’s Hospital of Philadelphia
STARR Study - Understanding Developmental Changes in the STXPB1 Population: Andrea Meile, PhD, Children’s Hospital Colorado
Development of a Novel Severity Scale for STXBP1-RD: Megan Abbott, MD, Children’s Hospital Colorado
EEG Primer for Families: Jillian McKee, MD, PhD, Children’s Hospital of Philadelphia
A Better Understanding of STXBP1 Disorders (part 2), Community, Family story
Your Data at Work: Simons STXBP1 Update: Wendy Chung, MD, PhD, Simons Searchlight
Understanding STXBP1 Genetic Variants: Katie Angione, MS, GCG, Children’s Hospital Colorado
Family Story: Wilson Family STXBP1 Journey
Family Story, Behavior in STXBP1 Disorders, Clinical Trials
STXBP1 Family Story: Casey & Kristen Baum / Clara Inspired, STXBP1 Parents
Autism and Behavioral Changes in STXBP1-RD: Morgan Jolliffe, PsyD, Children’s Hospital Colorado
Clinical Trial for Bexicaserin: David Chapman, Lundbeck
Capsida Clinical Trial Update: Melanie Brandabur, MD, Capsida
Family Story, Innovation Awards
Family Story: Kahrl Family
Innovation Awards
Innovative Research: Dr. Matthijs Verhage, VU Amsterdam - Netherlands
Clinical Champion :Sarah Ruggiero, Genetic Counselor - Children’s Hospital of Philadelphia
Everyday Hero: Paula Rinaudo, Bella’s Grandma
Transformative Changemakers: Kristen and Casey Baum, Clara’s parents
Community Resources, Family Support Sessions
Community Resources, STXBP1 Foundation
ABCs of Behavior: A comprehensive approach to challenging behaviors: Ann Reynolds, MD, Children’s Hospital Colorado
McKenzie Schwien BCBA with expertise in managing severe behaviors and advancing behavioral health practices, Children’s Hospital Colorado
How to Handle More Than You Can Handle: Reconnecting with yourself after a rare disease diagnosis: Amanda Griffith-Atkins, MS, LMFt, author, advocate & special needs mom