Recent progress in the genetics and genomics of ASD

Original KEYNOTE presentation and abstract by Dr Matthew State (Yale University, Connecticut, USA) on recent progress in the genetics and genomics of autism spectrum disorders, held at the ESCAP 2013 Congress in Dublin, Wednesday 10th July 2013.

Image from the presentation of Dr State.Abstract
The genetics of neuropsychiatric disorders has reached a tipping point. After decades of halting progress, there have now emerged several clear paths forward for the systematic discovery of highly reproducible risk genes and regions. In disorders of childhood, recent research into the genetic contributions to autism spectrum disorders (ASD) has been particularly productive. While only a small portion of the overall predicted heritability has so far been clarified, the study of de novo mutation has nonetheless provided critical insights into the genomic architecture of ASD, the highly complex relationship between genetic mutation and behavioral syndromes, and the nature of key molecular mechanisms playing a role in risk. This talk will provide a selected overview of progress in the genetics and genomics of ASD over the past decade with a particular emphasis on recent discoveries from the application of high throughput genomic technologies to large patient cohorts. The implications of gene discovery and the attendant insights gained will be considered with respect to the identification of molecular and cellular pathophysiology and the development of novel treatment targets.

Presentation
View the full presentation (pdf file, 23 slides).

  • Matthew State

    Portrait of Dr Matthew StateMatthew State MD PhD received his undergraduate and medical degrees from Stanford University and completed his residency in psychiatry and fellowship in child psychiatry at the UCLA Neuropsychiatric Institute. He received his PhD in Genetics from Yale and joined the faculty in 2001.
    He is currently the Donald J. Cohen Professor of Child Psychiatry, Psychiatry and Genetics and co-director of the program on neurogenetics at Yale University. In 2013 he will assumed the position of Chairman of the Department of Psychiatry at the University of California, San Francisco.
    Dr State's lab has been in the forefront of identifying rare genetic mutations contributing to childhood neuropsychiatric disorders including autism. His work on Tourette syndrome and brain malformations has each been cited as among the top-ten scientific breakthroughs of the year by Science Magazine.
    Dr State is currently leading a large multi-site genome wide study of autism spectrum disorders funded by the Simons Foundation and is principal investigator on multiple NIH grants focusing on Autism and Tourette syndrome. Among many professional honors, this past year, he was awarded the Ruane Prize for Outstanding Research in Child and Adolescent Psychiatry by the Brain and Behavior Research Foundation. He is a practicing child psychiatrist who has led the pediatric team at a community mental health center in Branford, Connecticut for nearly two decades.