STXBP1 Foundation

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

Encouraging data presented by Encoded Therapeutics Inc. at #ASGCT24 on its #STXBP1 gene therapy work! Dose dependent rescue of seizure, motor and memory phenotypes in mice model. Two capsids tested in non-human primates with a successful mitigating strategy for DRG toxicity risk using DT-A. Thankful for the Encoded team's long-term partnership! https://lnkd.in/gaVUzSJP

?? Ella Gordon and I are thrilled to announce the official launch of Rafa's Moonshot, a non-profit research fund with a primary focus on finding a cure for #STXBP1 (a rare genetic disorder that disrupts the brain's communication) and other rare genetic single-gene disorders. ?? Our Journey started on a rainy day in February 2023. Our world was turned upside down when Raphael, 18 months back then, was diagnosed with STXBP1. I remember every detail of that dreadful day, sitting in the cramped doctor's office, bombarded with terms like "severe developmental delays," "epilepsy," and "absence of speech", and then came the hardest part: the doctor said, "I'm sorry, but there is no cure." We were shattered. ?? "When life gives you lemons, make lemonade." ?? Was it a coincidence, or was it a sign from the universe? Raphael (Rafa - "to cure" in Hebrew) was born to an entrepreneur and a neurologist who would not take "there is no cure" for an answer. Quickly, Ella and I developed a strategic plan and set off on a mission to find a cure, just a week after receiving Raphael's diagnosis. In the past year, we talked with hundreds of researchers, scientists, clinicians, and biotech entrepreneurs worldwide. We developed a strong relationship with the STXBP1 researchers community and foundations worldwide, and we built a robust research infrastructure. We launched a drug repurposing initiative, initiated a project to develop a new drug for STXBP1 in Israel, and started our first N-of-1 clinical trial six months after the diagnosis. In addition to that, we are also happy to welcome Dr. Hila Ben-Moshe ??, who has joined Rafa’s Moonshot as our new Director of Science and will lead our pioneering research as we actively donate grants to support ground-breaking technologies with clinical potential and leading researchers worldwide. We are grateful to all our companions, collaborators, and advocates who have supported us along the way. Join us on this journey, and follow our progress, and mission to find a cure for STXBP1 and other rare genetic disorders. Thank you to Lior Dor (Rare Smile Foundation), Shane Wald-Altman (QRGenetics), Illana Gozes, Bruria Ben-Zeev, Michal Fisher, Gad D Vatine , Nofar Mor, Charlene Son Rigby (STXBP1 Foundation), Michael Boland, Christopher E Hopkins, PhD, MBA (InVivo Biosystems), Daniel Kaganovich, Shani Stern, Erin Prosser, Andreea Nissenkorn, Ariel Nissim, Alon Tal (Merit Spread Foundation, Iris Stark ????? ????, Alex Bunin (inshi) and more, for your support. Raphael, Mom, and Dad will journey to the moon and beyond for you, our sweet child. ?? Learn more about our research here: https://lnkd.in/dWmSsXWq #RafasMoonshot #STXBP1 #RareDisease #Cure #Hope #Innovation