Rare variants and the genetics of autism

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



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

Phenotyping sleep

Emmanuel Mignot, M.D., Ph.D.Craig Reynolds Professor of Sleep Medicine, Stanford University

Emmanuel Mignot discussed sleep biology as well as sleep disorders and their impact. He presented a link to what is known on the genetics of sleep and sleep disorders. He emphasized the need for large scale objective sleep recording studies with genomic and proteomic analysis to better understand the molecular pathways regulating sleep and circadian biology.

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