SYNGAP1 Research Roadmap
Here are our introductory comments:
Dr. Rumbaugh gave a talk titled SYNGAP1 Research Roadmap on June 18th, 2020.
Dr. Gavin Rumbaugh is a neuroscientist at Scripps Research Institute doing research on SYNGAP1. In this webinar, he talks about how disrupted SYNGAP1 functions affect the way neurons connect and create networks, as well as the different variants of SYNGAP1 and what they mean when thinking about therapeutics for SYNGAP1 patients. He does a deep dive into the concept of genetic haploinsufficiency, the characteristic of patients having half as much SYNGAP1 flowing through their brain, being the root cause of 80% of SYNGAP1 patients’ brain disorders. He explains how this is an important concept when considering the different approaches for raising SYNGAP1 protein levels in the brain. Finally, he closes the webinar with the work his lab is doing to find pathways in the brain and compounds that could be used to raise SYNGAP1 expression.