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

Altered somatosensory processing in autism spectrum disorders: Mechanisms and emerging therapeutic opportunities

David Ginty, Ph.D.Professor of Neurobiology, Harvard University

On April 24, 2019, David Ginty presented his work on the neurobiological basis of touch over-reactivity in mouse models of autism spectrum disorder (ASD). He also discussed new pharmacological approaches aimed at reducing sensory over-reactivity and potentially improving cognitive and behavioral abnormalities associated with ASD.

Mapping human cerebral cortex: Structure, function, connectivity, development and evolution

David Van Essen, Ph.D.Alumni Endowed Professor, Washington University in St. Louis

On April 3, 2019, David Van Essen provided an overview of basic principles of cortical organization and connectivity from studies of laboratory animals and analyses of individual variability in humans. He also highlighted a new map (‘parcellation’) of the human cerebral cortex based on data from the Human Connectome Project.

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