Autism genetics: Where have we been and where are we going?

  • SFARI science meetings
Speaker Matthew State, M.D., Ph.D.
University of California, San Francisco
Date & Time


Location

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

SFARI science meetings

SFARI science meetings bring together SFARI Investigators to discuss progress on SFARI-funded research projects. The meetings are by invitation only and are held at the Simons Foundation in New York City. Video recordings of select presentations that are of interest to a wider audience are posted online after the meeting.

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On April 10, 2018, Matthew State reviewed the progress that has been made in autism genetics over the past 10 years and the role that the Simons Simplex Collection (SSC) played in this (r)evolution. He also addressed the potential contribution of ongoing genomic studies including whole-genome sequencing as well as the challenges and opportunities of leveraging the genetic findings to identify pathophysiological mechanisms.

This presentation was given during the SFARI April 2018 science meeting.

About the Lecture

The Simons Simplex Collection (SSC) has been the single most important development in the genetics of autism spectrum disorders (ASDs) in the past decade. The combination of the exquisitely designed and assessed ASD cohort, a highly productive research strategy focusing first on de novo mutations, and an ethos of data sharing and collaboration has propelled the ASD field into an era of reliable and reproducible gene discovery. This critically important effort is ongoing and has already led to the accumulation of dozens of definitive molecular clues to the etiology of social disability. It has also set the stage for the elaboration of the pathophysiology of ASD and the development of novel therapeutic strategies.

In this presentation, Matthew State briefly reviewed the dramatic progress in ASD genomics over the past 10 years and the role that the SSC has played in this (r)evolution. He also addressed the potential contribution of ongoing genomic studies including whole-genome sequencing as well as the challenges and opportunities of leveraging the genetic findings to identify pathophysiological mechanisms.

About the Speaker

Matthew State is the Oberndorf Family Distinguished Professor and chair of psychiatry at University of California, San Francisco and director of the Langley Porter Psychiatric Institute and Hospital. He is a child psychiatrist and human geneticist studying pediatric neuropsychiatric syndromes, including autism spectrum disorder, Tourette syndrome and childhood-onset schizophrenia. His lab focuses on gene discovery as a launching point for efforts to illuminate the biology of these conditions and to develop novel and more effective therapies. He plays a leadership role in a number of national and international collaborative genomics studies of autism and Tourette syndrome, including the Simons Simplex Collection Genomics Consortium, the Autism Sequencing Consortium and the Tourette International Collaborative Genetics study.

Past Lectures

The genetic influences on autism spectrum disorder risk

Elise Robinson, Sc.D.Assistant Professor, Harvard T.H. Chan School of Public Health
Associate Member, Broad Institute

On January 30, 2019, Elise Robinson provided an overview of the role that genetic factors play in autism spectrum disorders and discussed the next steps to further understand autism genetics.

The predictive impairment hypothesis in autism: An empirical assessment

Pawan Sinha, Ph.D.Professor, Massachusetts Institute of Technology
Dagmar Sternad, Ph.D.Professor, Northeastern University

On December 12, 2018, Pawan Sinha and Dagmar Sternad reviewed a recently proposed hypothesis about the nature of autism spectrum disorders (ASD) that posits that the common traits of the disorder are manifestations of an individual’s difficulty in making predictions about cause and effect.

Rethinking autism and animal models: A systems perspective

André Fenton, Ph.D.Professor, Center for Neural Science, New York University

On November 28, 2018, André Fenton discussed work with mouse genetic models of fragile X syndrome (FXS) – the most common single-gene cause of autism spectrum disorder (ASD) symptoms – and focused on the utility of such models to evaluate hypotheses for understanding ASD. He evaluated distinct hypotheses by assessing synapse function and the action potential discharge of knowledge-expressing hippocampus “place cells” during behaviors that require varying cognitive effort.

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