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


Tea: 4:15pm - 5:00pm
Lecture: 5:00pm - 6:15pm

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. The lectures are open to the public and are held at the Gerald D. Fischbach Auditorium at the Simons Foundation headquarters in New York City. Tea is served prior to each lecture.

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

Autism genetics: Searching for coherence

Daniel Geschwind, M.D., Ph.D.Professor, University of California, Los Angeles

On 28 November, Daniel Geschwind will discuss his group's use of RNA sequencing, chromatin structure and gene networks to help develop an understanding of potential convergent mechanisms in autism spectrum disorders.

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

Understanding autism and other neurodevelopmental disorders: From the embryo to brain organoids

Paola Arlotta, Ph.D.Professor, Harvard University

On 1 November 2017, Paola Arlotta focused on the cerebral cortex and presented the challenges and opportunities of modeling human brain development using pluripotent stem cells within 3D human brain organoids. Building on developmental work in mice, such organoids promise a better understanding of complex neurodevelopmental conditions such as autism spectrum disorder.

Leveraging long-term health data and exome sequencing for autism-related gene discovery

David Ledbetter, Ph.D., FACMGExecutive Vice President & Chief Scientific Officer, Geisinger Health System

On 11 October 2017, David Ledbetter discussed the progress made by Geisinger Health System’s Precision Health Center – in partnership with Regeneron Genetics Center – towards advancing research and innovation by leveraging electronic health data and exome sequence data. Such an approach has already led to the successful identification of new drug targets and improved prevalence estimates of common Mendelian conditions, including familial hypercholesterolemia, BRCA-related cancers and Lynch syndrome, as well as autism spectrum and neuropsychiatric copy number variant disorders.

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