About the STXBP1 Foundation

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-Related 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.

Our global STXBP1 family expands, with families of newly diagnosed patients joining our community on a weekly basis. The STXBP1 Census, a collaborative effort of STXBP1 Global Connect, now counts patients in over 45 countries. And, STXBP1 Global Connect now includes over 20 associations and country liaisons. We will only continue to grow our numbers as more patients have access to genetic testing.

We firmly believe that Science + Love = CURE.

Mission

• Create awareness in the disorders associated with STXBP1 mutations

• Fund and drive research to accelerate discovery of a cure

• Provide families with tools to help them understand the disease & how to get involved

• Advocate to improve early detection

• Foster activism to help change policies in favor of orphaned diseases

• Improve the lives of our STXBP1 Family

Values

• FAMILY: Children and adults diagnosed with STXBP1 and their families are at heart of everything that we do; they always come first.

• IMPACT: We believe that the fight to end STXBP1 requires a broad approach that combines advocacy, education, and research, to help us understand, treat, and ultimately find a cure.

• OPTIMISM: We see many reasons for hope -- from the development of more advanced and earlier genetic testing to greater awareness; from the evolving interest of researchers and medical professionals to the passion of our parent community.

• KNOWLEDGE: We believe that knowledge is power -- whether it’s researchers seeking new and improved methods of treatment, health care professionals looking to give the best possible care, parents who just want to provide a better quality of life to their child, or the STXBP1 patients who long to end the effects of STXBP1 and gain a voice.

• COLLABORATION: We are strongest when we are a united parent and scientific community that is working together to better the lives of those affected by STXBP1.

• DETERMINATION: We will not end our fight until every person diagnosed with STXBP1 is able to live daily without the devastating effects of the disorder.