SYNGAP1 Research Roadmap

Here are our introductory comments:

Dr. Rumbaugh gave a talk titled SYNGAP1 Research Roadmap on June 18th, 2020.

Webinar Overview

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.

Other Relevant Publications by Dr. Rumbaugh

Syngap1 regulates experience-dependent cortical ensemble plasticity by promoting in vivo excitatory synapse strengthening

SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons

Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders

You may also like

74 - COMBINEDBrain Biobank & Our Partnership with SRF for SYNGAP1

Terry Jo Bichell, PhD, MPH


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