The STXBP1 Foundation has provided $50,000 in funding to Children’s Hospital of Philadelphia (CHOP) to develop a Disease Concept Model for STXBP1 disorders

One of the missing pieces in the efforts to find better treatments for STXBP1 disorders is a way to describe the spectrum of symptoms of STXBP1 and capture the impact of those symptoms on the patients and families. Other rare neurodevelopmental disorders such as Angelman and Dravet have used something called a Disease Concept Model to fill this gap. It is a way to collect and organize information to clearly communicate with and inform governmental regulatory agencies, clinicians, researchers, and industry what our priorities are for effective therapies for our kids.

The STXBP1 Foundation has provided $50,000 in funding to Children’s Hospital of Philadelphia (CHOP) to develop a Disease Concept Model for STXBP1 disorders in the distinctive voice of our community. The STXBP1 Foundation, CHOP and COMBINEDBrain are collaborating on this project. Over the next few months, researchers will conduct in-depth interviews with volunteers from the STXBP1 community to help build a more comprehensive picture of STXBP1 disorder. Interested in participating to lend your voice to this landmark project? Learn more here.

A special thanks also goes out to Ben and Chelsey Shipley who raised over $30K dollars towards this important initiative through their Million Steps for STXBP1 event this past September in honor of their daughter Coco. Read more about Coco from Chelsea here!