Rare variants and the genetics of autism

  • Autism Research
Speaker Evan E. Eichler, Ph.D.
University of Washington, Seattle
Date & Time


Location

Webinar

SCHEDULE
4:45 – 5:00 PM ET
Waiting room opens

5:00 – 6:15 PM ET
Talk + Q&A

Autism Research

Autism Research lectures bring together scientists and scholars to discuss diverse and important topics related to autism.

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On October 21, 2020, Evan Eichler discussed his research on the genetics of autism and related neurodevelopmental conditions.

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

About the Lecture

Over the last decade, tremendous advances in sequencing technology have allowed scientists to study the full spectrum of human genetic variation and its relationship to disorders associated with mental health. In this lecture, Eichler presented his laboratory’s recent work studying specific forms of both inherited and sporadic mutations to identify new genes underlying autism and developmental delay. He also discussed promising paths forward for understanding more complex genetic forms of these disorders.

About the Speaker

Evan Eichler is a professor of genome sciences at the University of Washington in Seattle and a Howard Hughes Medical Institute Investigator. He received his Ph.D. from Baylor College of Medicine. After his postdoctoral fellowship at Lawrence Livermore National Laboratory, he joined Case Western Reserve University in 1997 and the University of Washington in 2004. His research group provided the first genome-wide view of segmental duplications within human and primate genomes. He is a leader in identifying and sequencing normal and disease-causing structural variation in the human genome. The long-term goal of his research is to understand the evolution and mechanisms of recent gene duplication and its relationship to copy number variation and human disease with a specific emphasis on the genetic architecture of autism and neurodevelopmental delay.

Past Lectures

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.

New research results from the Australian Autism Biobank study

Jake Gratten, Ph.D.Group Leader, Mater Research Institute, The University of Queensland
Adjunct Senior Research Fellow, Institute for Molecular Bioscience
Naomi Wray, Ph.D.National Health and Medical Research Council Leadership Fellow – Group Leader, Institute for Molecular Bioscience
Affiliate Professor, Queensland Brain Institute, The University of Queensland

Jake Gratten and Naomi Wray presented findings from the Australian Autism Biobank study, an initiative to establish an Australian resource of biospecimens, phenotypes and genomic data for autism research.

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