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

How emotions shape our memories

Kelsey C. Martin, M.D., Ph.D.Director, SFARI
Director, Simons Foundation Neuroscience Collaborations
Leonard Mlodinow, Ph.D.Physicist and Author

Have you ever contemplated the difference between a feeling, a thought and a memory? And how do all these things fit together in making us who we are?

Leonard Mlodinow is a theoretical physicist and best-selling author. In his latest book, “Emotional: How Feelings Shape Our Thinking,” he unpacks the role emotions play in our thinking and mental well-being.

Kelsey Martin, director of the Simons Foundation Autism Research Initiative (SFARI) and the foundation’s neuroscience collaborations, has spent much of her career as a neuroscientist seeking to understand better how experiences change brain connectivity to store long-term memories.

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.

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