Description:

Speaker:

Evan Eichler, PhD
Professor of Genome Sciences, University of Washington
Investigator, Howard Hughes Medical Institute

The last decade has witnessed tremendous advances in sequencing technology to understand the full spectrum of human genetic variation and its relationship to disorders associated with mental health. The talk will present the laboratory’s most recent work based on sequencing and analysis of ~50,000 families with autism and developmental delay. The presentation will focus on the influence of rare, high-impact variants on our understanding of the genetic architecture of neurodevelopmental delay. It will show how forms of both inherited and sporadic mutations have helped identify new genes and networks associated with both syndromic and non-syndromic forms of autism. The available data suggest that multiple rare, privately inherited, genetic variants contribute significantly to autism disease risk. The application of long read sequencing data will increase our sensitivity to identifying more complex forms of genetic variation and new disease mechanisms underlying these disorders. The oligogenic architecture, importantly, provides an alternate paradigm distinct from monogenic and polygenic models of disease for characterizing more complex genetic forms of these disorders and argues for a more complete analysis of the genetic variants present in families.