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.

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

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

Matthew State, M.D., Ph.D.Oberndorf Family Distinguished Professor and Chair, University of California, San Francisco

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.

On the road to precision health: Brain-based biomarkers in autism spectrum disorder

Shafali Spurling Jeste, M.D.Associate Professor in Psychiatry, Neurology and Pediatrics, University of California, Los Angeles
Director, Developmental Neurophysiology Lab, Center for Autism Research and Treatment, University of California, Los Angeles

On 7 February 2018, Shafali Spurling Jeste provided a topical overview of the current state of research in autism biomarkers. She shared data from studies of autism biomarkers in three key areas: early risk prediction (studies of high-risk infants), heterogeneity within the autism spectrum and genetically defined subgroups within autism. Finally, she discussed the challenges around clinical trial design and development and considered how more objective measures of brain function can improve clinical trials.

Arousal, emotion regulation and challenging behaviors: Insights from the Autism Inpatient Collection

Matthew Siegel, M.D.Associate Professor of Psychiatry and Pediatrics, Tufts University
Vice President, Medical Affairs, Developmental Disorders Service, Maine Behavioral Healthcare

On 24 January 2018, Matthew Siegel drew upon a new resource, the Autism Inpatient Collection data set, to offer preliminary insights into the relationships between physiologic arousal, emotion dysregulation and the occurrence of challenging behaviors. Such behaviors may represent an attempt to modulate physiologic arousal in minimally verbal individuals with autism spectrum disorders.

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