SYNGAP1 in the Developing Human Cortex

Here are our introductory comments:

Dr. Stephan Sanders Webinar 11/6/2020 at 12pm EST

We are very excited to continue the SRF webinar series. The goals of the series are:

• getting you closer to the science 
• making you aware of the research that is been done and the opportunities to participate
• and empowering your communications with clinicians 

Our next webinar that will be taking place is Thursday December 10th at 12CST. This will be with Dr. James Holder of Baylor College of Medicine.

Our talk today with Dr. Sanders is titled “SynGAP1 in the Developing Human Cortex”. Dr. Sanders speaks to us today with experience in a number of different roles related to patients with developmental disabilities and autism spectrum disorder. He was first a pediatrician in his home country, the United Kingdom. In 2007, he and his wife moved to the United States where he signed on for a postdoctoral research position at Yale in Dr. Matthew State’s lab and completed his PhD work. He is currently an Assistant Professor at UCSF in the Department of Psychiatry.

Dr. Sanders’ work in genetics has been instrumental in developing our understanding of how de novo mutations are associated with autism spectrum disorder. Working with the Simons Simplex Collection, exome sequencing was used to develop early methods for identifying genes linked to autism. Further down the line, Sanders lab has prioritized characterizing and studying in depth genes which are strongly associated with ASD. Notably, his lab’s work on SCNA2 has combined genetic data with knowledge about the protein’s structure to understand both the gain and loss of function mutations and the differing phenotypes that they produce.

Sanders has continued to contribute to elucidating genetic links to autism by combining multiple cohorts including copy number variant data and exome data. In 2015 he published a paper identifying 71 risk loci for autism and SynGAP1 was included as a risk gene. His lab is broadening our understanding further by developing and applying new statistical methods to analyze non-coding regions of the genome to illuminate the pathways in gene regulation which may contribute to autism.

His pioneering work in genetics has benefitted many patient communities and we are appreciative for him sharing with us today about that as well as some of his specific knowledge on SynGAP1.

At the end of this presentation, you will have an opportunity to get your questions answered. We’d love to hear from you – please write your question in the chat.

For those of you just joining us, welcome to our talk today by Dr. Stephan Sanders entitled “SynGAP1 in the Developing Human Cortex”. You will be able to find a recorded version of this talk on the SRF website as well as on SRF’s YouTube Channel.