2024 STXBP1 Impact Award Winners

Innovative Research

Mingshan Xue, PhD
Baylor College of Medicine

Associate Professor
Neurological Research Scholar
Primary Investigator

Clinical Breakthrough

Ingo Helbig, MD
Children’s Hospital of Philadelphia

Attending Physician
Assistant Professor of Neurology and Pediatrics
Internationally recognized expert on STXBP1-related disorders

Transformative Changemakers

Bridget Finn and Sam Beaubien

Parents of Flo
Founders of FLOURISH
Launch Sponsors of STARR Natural History Study

Patient Ambassador

Lily Kahrl

Teen STXer
Swim Champion
Team Hero

Advocacy

Erin Prosser

Mother of Lucy
IEP Coach
Founder of Lulu’s Crew,
Organizer Million Dollar Bike Ride

Outstanding Leader

Charlene Son Rigby, MBA

Mother of Juno
Advocate
STXBP1 Foundation President, Founding Board Member
Global Genes CEO

The STXBP1 Foundation proudly launched the premier of the first-ever Impact Awards during our Summit+ annual conference last month. These awards recognize significant contributions towards our quest to find better treatments and an eventual cure for STXBP1-related disorders. Our 6 awards are in the scientific, community, and patient-related categories.

2024 Award Presentations

Innovative Research Award
Mingshan Xue, PhD is Associate Professor, of the Department of Neuroscience at Baylor College of Medicine, and the Caroline DeLuca Scholar at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital. Dr. Xue's research on STXBP1-related disorders began in 2014. Dr. Xue's lab has developed a gene therapy for STXBP1-related disorders.

Clinical Breakthrough
Ingo Helbig,MD is Director of Clinical Research at the Center for Epilepsy and NeuroDevelopment Disorders (ENDD), an attending Pediatric Neurologist in the Division of Neurology and the Director of Genomic Science at Children’s Hospital of Philadelphia , and an Assistant Professor of Neurology at the Perelman School of Medicine. Dr. Helbig's focus on STXBP1-related disorders includes launching the first multi-center natural history study, STARR, and is grounded in his team's novel approaches to integration of clinical data through computational methods.