STXBP1 Foundation的动态

?? 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