What can genetics tell us about autism spectrum disorder?

  • Autism Research
Speaker Stephan Sanders, B.M.B.S., Ph.D.
University of California, San Francisco
Date & Time


Location

Gerald D. Fischbach Auditorium
160 5th Avenue
New York, NY 10010 United States

Autism Research

Autism Research lectures bring together scientists and scholars to discuss diverse and important topics related to autism.

Video Thumbnail

By clicking to watch this video, you agree to our privacy policy.

 
On 22 March 2017, Stephan Sanders presented an update on the current state of genetics research in autism, highlighting some of the key findings that remain to be discovered, and discussing how these findings could ultimately benefit individuals with autism and their families.

His talk was part of the Simons Foundation Autism Research lecture series.

About the Lecture

It has been known that autism spectrum disorder is primarily caused by genetic factors for several decades. The past 10 years have seen great progress in finding some of the genes responsible and in building a map of what other types of genetic variants may contribute. These findings have been used both to provide insight into the biology of autism and, in the clinic, to identify individuals with specific genetic variants.

In this lecture, Stephan Sanders presented an update on the current state of genetics research in autism, highlight some of the key findings that remain to be discovered, and discussing how these findings could ultimately benefit individuals with autism and their families.

About the Speaker

Stephan Sanders trained as a pediatric physiscian in the United Kingdom before pursuing a research career in genomics and bioinformatics. His work has helped characterize the role of de novo mutations in the etiology of autism and identified multiple autism risk loci, including duplications of the 7q11.23 Williams syndrome region (Sanders et al., Neuron, 2011) and mutations in the sodium channel gene SCN2A (Sanders et al., Nature, 2012). His work on the integration of copy number variation and exome data across multiple autism cohorts recently identified 71 autism risk loci (Sanders et al., Neuron, 2015). In addition, he worked as part of a group that integrated spatiotemporal gene expression data from the human brain with these autism-associated genes (Willsey et al., Cell, 2013). This approach has implicated deep-layer glutamatergic neurons in the frontal cortex during mid-fetal development in the causation of autism. His lab has three main research aims: 1) Understanding the genetic basis of childhood neurodevelopmental conditions, in particular autism; 2) Understanding how these genetic factors lead to the conditions; and 3) Understanding the mechanism that leads to the male bias in autism diagnosis, in particular through identifying the biological basis of the female protective effect.

Past Lectures

What do we mean by ‘autism risk genes’?

David Ledbetter, Ph.D.
Chief Clinical Officer, Dascena

Joseph Buxbaum, Ph.D.
Director, Seaver Autism Center
Professor, Psychiatry, Neuroscience, Genetics and Genomic Sciences
Vice Chair for Research and Vice Chair for Mentoring, Psychiatry, Icahn School of Medicine at Mount Sinai

Heather Mefford, M.D., Ph.D.
Full Member, St. Jude Children’s Research Hospital

David Ledbetter and Joseph Buxbaum discussed whether there are genes for which mutations confer risk specific to autism or whether these genes are really conferring general risk of disrupted brain development. The discussion was moderated by Heather Mefford.

Small molecules, genes and antisense oligonucleotides: Industry perspectives on treatment development for ASD

Federico Bolognani, M.D., Ph.D.
Vice President, Head of Clinical Science, Axial Therapeutics

Stuart Cobb, Ph.D.
Chief Scientific Officer, Neurogene; Research Fellow, University of Edinburgh

Yael Weiss, M.D., Ph.D.
Vice President, Business Development, Ultragenyx

Randy Carpenter, M.D.
Chief Medical Officer, Rett Syndrome Research Trust; Co-Founder, Allos Pharma

Federico Bolognani, Stuart Cobb, and Yael Weiss joined a panel to discuss new industry developments on the use of small molecules, gene therapy and antisense oligonucleotides as treatment approaches for autism spectrum disorders (ASD). The panel discussion was moderated by Randall Carpenter.

New research results from the Australian Autism Biobank study

Jake Gratten, Ph.D.Group Leader, Mater Research Institute, The University of Queensland
Adjunct Senior Research Fellow, Institute for Molecular Bioscience
Naomi Wray, Ph.D.National Health and Medical Research Council Leadership Fellow – Group Leader, Institute for Molecular Bioscience
Affiliate Professor, Queensland Brain Institute, The University of Queensland

Jake Gratten and Naomi Wray presented findings from the Australian Autism Biobank study, an initiative to establish an Australian resource of biospecimens, phenotypes and genomic data for autism research.

Subscribe to our newsletter and receive SFARI funding announcements and news