STXBP1 Foundation is dedicated to finding a cure for STXBP1-Related Disorders (STXBP1-RD) while improving the lives of our patients and families. Founded in 2017, STXBP1 Foundation is a parent-led advocacy organization. STXBP1-RD is a rare neurodevelopmental disorder caused by changes in the STXBP1 gene. With an incidence of approximately 1 in 30,000 live births, STXBP1-RD is one of the most common genetic causes of epilepsy.
We are comprised of a diverse team of families and their supports, scientists and medical professionals dedicated to ending STXBP1 Disorders. In fostering partnerships with physicians, researchers, and other foundations, we share learnings and efficiencies to increase awareness of this rare, genetic disorder and identify therapeutic strategies. We believe that through our work, we are accelerating development of significantly improved therapies and ultimately ending STXBP1-RD.
We firmly believe that Science + Love = CURE.
www.stxbp1disorders.org/