SynGAP1 from the Clinics
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 She even shares new unpublished work, and talks about her findings as potential biomarkers to use in clinical trials.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.
You may also like
74 - COMBINEDBrain Biobank & Our Partnership with SRF for SYNGAP1
Terry Jo Bichell, PhD, MPH
COMBINEDBrain
68 - Harnessing Messenger RNA metabolism for the development of precision gene therapy - SYNGAP1
Jeff Coller, PhD
Johns Hopkins
73 - Linking SYNGAP1 with Human-Specific Mechanisms of Neuronal Development
Pierre Vanderhaeghen, MD, PhD
VIB Center for Brain & Disease Research