Blog
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.
Inside Rafa’s Moonshot’s 2025 Progress for STXBP1
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…
A Grant to Prof. Illana Gozes: Developing R292C STXBP1 Mouse Model
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…
STXBP1 Now Has Its Own ICD-10 Code
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…
Half a Million Dollars for STXBP1 Research
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…
Disease Models: The Key to Unlocking Treatments for STXBP1
Did you know? The tiny C. elegans worm shares 60-80% of its genes with humans, making it an invaluable tool in genetic research. At Rafa’s Moonshot, we’re using these remarkable creatures, among other models, to pave the way for breakthrough treatments for STXBP1 disorders. When it comes to finding a…
The Critical Role of Clinical Trials in Finding a Cure for STXBP1
Clinical trials are the cornerstone of medical advancements, providing the necessary framework for testing new treatments, interventions, and medical devices to ensure they are safe and effective for human use. This process is crucial for all medical research, but it holds a particularly significant place in the context of rare…
Mission Possible: Crafting a Plan to Defeat STXBP1
When Raphael was diagnosed with a mutation in the STXBP1 gene, we knew that finding a cure would not be simple. A logical plan was needed to ensure that all efforts would help us reach our goal of helping Raphael and other kids in similar conditions as quickly as possible. …
The Power of Early Diagnosis
In this blog, I will explore the complexities of rare genetic diseases, emphasizing the crucial role of early diagnosis in improving treatment and quality of life. You’ll find personal anecdotes, expert insights, and practical advice on navigating the diagnostic process. Part 1: Our Journey Giving birth to a child with…
Introducing Dr. Hila Ben-Moshe, Rafa’s Moonshot Scientific Director
When we embarked on this journey, we knew that we must think big for such a challenging mission. In the early days of Raphael’s diagnosis, Ella and I prepared our strategic plan and understood two important things: This led us to search for a scientific director to join and complete…
Launching Rafa’s Moonshot
Hello all, We are thrilled to announce the official launch of Rafa’s Moonshot, our research fund dedicated to finding a cure for STXBP1 disorders and related single-gene diseases. Our blog aims to share updates on our ongoing research, highlight new advancements and technologies, and share inspiring stories from pioneers in…
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