20 – SYNGAP1 from the Clinics

Event Time

December 4, 2020 at 7:00 pm

Description

Here are our introductory comments: 

Dr. Smith-Hicks is one of only a handful of neurologists world-wide who have seen more than a few Syngap1 patients.  She gives a wonderfully comprehensive description of the clinical features of Syngap1 Syndrome, complete with pertinent literature citations.  Next Dr. Smith-Hicks reports her deep phenotyping of patients, research done in her clinic. Importantly, she brings previously unreported features of the disorder to publication.  She even shares new unpublished work, and talks about her findings as potential biomarkers to use in clinical trials.

Take a look and see why we love and appreciate Dr. Smith-Hicks.  We are lucky that she has been actively studying Syngap1 Syndrome patients for years already.