Scales. Decades of cerebral palsy research suddenly become meaningful for STXBP1 and SYNGAP1. The CP field has built a mature framework of classification systems such as the Gross Motor Function Classification System (GMFCS), along with related tools for manual ability and communication. These systems were not developed for synaptic disorders, which were largely unknown when these scales were first conceptualized. However, as we move toward trial readiness, they offer exactly what we need: structured ways to describe function. The question is whether they translate and can be used. Here is what we found.
Tag Archives: STARR
The rare disease with fastest growing knowledge – the 2025 STXBP1 Summit+
Westminster. The Westin in Westminster, Colorado has an inbuilt alarm clock. As the hotel is a relatively isolated tall building, you get the most intense sunrise over the big Colorado sky that gently wakes you up as it intensifies – a consolation prize if your hotel room doesn’t have the majestic mountain view, as was my case this year. The Westin the venue for this year’s STXBP1 Summit+ Family Meeting. Here are three takeaways from the summit, from my perspective as a clinician researcher.
Life, Liberty, and the Pursuit of Precision Medicine
Taking the Oath. I was naturalized as a United States citizen in Philadelphia today. This was a big step for me personally that started with my move to the US more than a decade ago. As an immigrant physician-scientist, I have lived through the most dynamic decade in child neurology, which is my chosen field of work. During this time, many previously unnamed conditions have been deciphered, genetically characterized, and moved towards targeted treatments such as gene therapies. With this as a background, let me summarize why I am excited to be a US citizen.
STARR, ESCO, and building the STXBP1 momentum
Physics. When I tried to summarize the STXBP1 Summit in Colorado on my way back, I got stuck with the concept of momentum. Lots of things are happening in the world of STXBP1 disorders, but the most important thing is momentum, defined by Merriam-Webster as strength or force gained by motion or by a series of events. Buoyed by two natural history studies, STARR and ESCO, things are certainly in motion. Here are a few take-aways from the STXBP1 Summit.