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…
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…
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…
Five Key Steps to Kick Off Our Rare Disease Journey
When Raphael was diagnosed with STXBP1, the doctor looked into our eyes and simply said “There is no cure.” With just 600 diagnosed cases worldwide and barely any research available, the news felt devastating and frustrating. Ella and I refused to accept this grim prognosis – instead, we took action.…
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