Explore the latest insights, breakthroughs, and stories shaping our journey towards innovative research and advancements in STXBP1 and Single Gene disorders on Rafa’s Moonshot Blog.

A year of science, momentum, and real steps toward treatments for STXBP1. 2025 was our busiest and most productive research year yet. Across laboratories in Israel, the UK, Europe, and the US, we pushed forward on multiple therapeutic strategies, expanded our scientific ecosystem, and reached milestones that only a year…

We are pleased to announce a continuation grant to Prof. Illana Gozes at Tel Aviv University to establish and comprehensively characterize a mouse model harboring the R292C point mutation in STXBP1. This variant is one of the pathogenic heterozygous mutations known to disrupt synaptic vesicle fusion processes and is clinically…

A big milestone! 🎉 We are thrilled to share some fantastic news from the STXBP1 community: STXBP1-related disorders will have their very own ICD-10 code as of October 1, 2025. This is not just bureaucratic jargon: it is a meaningful step forward in recognition, diagnosis, research, and care. What Is…

This year marks a significant milestone in our mission to advance research into STXBP1-related disorders. With over $500,000 in combined funding, we’re powering groundbreaking organoid and rat chimera studies that will deepen our understanding of the disorder and accelerate the path toward effective treatments. A Strategic Grant to Advance Brain…
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