STXBP1 Foundation

Our partner, Capsida Biotherapeutics, featured the Zink family including brave STX'er Reece and his parents Justin and Kristin. Read their story below! #STXBP1 #RareDisease

The STXBP1 Foundation has hired its first Executive Director, Mark Quinlan. Welcome Mark! Mark brings over 20 years of strategic leadership, most recently as the Executive Director of the Fanconi Cancer Foundation. During his tenure, they raised $21.5 million and funded over $13 million in research that focused on the rapid discovery and development of therapies. Learn more about Mark Quinlan here: https://lnkd.in/gNTXMwg7

Congratulations to Capsida Biotherapeutics! They have been granted orphan drug designation by the FDA for CAP-002, a potential gene therapy for STXBP1-related disorders. Exciting news for the STXBP1 community! https://lnkd.in/gyQbQ-Kr

Just in time for the last day of #STXBP1 Awareness Month, the STXBP1 Q3 2024 Census is published! 1157 patients with 33 patient identified this quarter. https://lnkd.in/g7YkYSyj #STXBP1GlobalConnect

STXBP1 Foundation is hiring an Executive Director! STXBP1 Foundation is dedicated to finding a cure for STXBP1 Disorders while improving the lives of our patients and families. With an incidence of approximately 1 in 30,000 live births, STXBP1 Disorders are one of the most common genetic causes of epilepsy. Join us in our efforts to accelerate research and therapy development, and activate and support our community. https://lnkd.in/gyrW2KNf #RareDisease #STXBP1 #Nonprofit

Calling All Researchers! Two $69,708 grants for STXBP1 Research! Letter of Interest (LOI) Applications are Due Friday, September 20th, 2024 by 8pm ET Lulu’s Crew / Team STXBP1 rode for the 6th year --?raising a more than $139K in funds for STXBP1 research?-- in the Million Dollar Bike Ride, organized by the Orphan Disease Center | University of Pennsylvania. Projects addressing any stage of pre-clinical to clinical development for STXBP1 disorders will be considered. Areas of priority interest include, but are not limited to: -Understanding pathomechanisms and genotype-phenotype relationships of STXBP1 disorders. This may include the development of novel murine or iPSC-based models to determine pathomechanisms of missense variants. -Development of clinical trial readiness, including identification of novel biomarkers and non-seizure clinical endpoints and assessments. -Determining the trajectory of STXBP1 disorders from pediatric to adult presentations. -Developing or advancing novel therapeutic approaches to correct STXBP1 disorders These grants are made possible by Lulu’s Crew / Team STXBP1. ? To apply, review the?Request for Application: https://lnkd.in/dUndgkGz Submit your?Letter of Intent?by September 20! #RareDisease

Check out this summary of the STXBP1 Research Roundtable meetings from our Scientific Director, James Goss. So much progress in #STXBP1 research including in urgently needed therapies. We have so much still to do. Innovation and Collaboration are critical to advancing work in STXBP1 and broadly in rare diseases. We are so lucky to have an engaged and growing research community of true Innovators and Collaborators. https://lnkd.in/gSG2p3Nq #raredisease

The Science + Love = CURE Podcast #15 is here! This is the STXBP1 10 minute monthly update with Charlene Son Rigby. Check it out here: https://lnkd.in/g5Dsf76i Miss any of the previous updates? https://lnkd.in/g7kgpY25

Dear network, This Saturday, June 8th, scientists from the Vrije Universiteit Amsterdam (VU Amsterdam), Amsterdam UMC - Amsterdam Neuroscience and University of Antwerp will bike over 80 km to raise money for the developmental brain disease STXBP1-related disorders to support the campaign by the Orphan Disease Center | University of Pennsylvania. Please?support us here:?https://gofund.me/e3147b49?to help cure this disorder! #Leap4Rare #RareDiseaseDay #STXBP1 #MillionDollarBikeRide

The STXBP1 Researcher and Family Summit 2024 will be held 18-21 July in Philadelphia, PA. Don't miss it! Research Roundtable: 18-19 July Family Meeting: 20- 21 July Joint Dinner and Dance Party: Friday night Agenda is now available! For more information and registration: https://lnkd.in/gysiX9dX #stxbp1 #curestxbp1 #neurodevelopmentaldisorders #raredisease