Genetic Expression Mapping to Identify Networks of Functionally Related Autism Risk Genes

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Summary

  • Study director: Lauren Weiss, PhD
  • Sponsor: Brain and Behavior Research Foundation
  • Official study title: Genetic expression mapping of functionally related autism risk genes
  • Purpose: The purpose of this study is to use an approach to "pathway" definition for the translation of genetics findings into neurobiological understanding of autism. The study will use gene expression data that can unite a number of autism-implicated common polymorphisms and rare variants into a network with functional implications.

Recent genetic studies in common, complex heritable disease like autism spectrum disorders have met success in two arenas: geneticists like to divide differences among individuals into "common polymorphisms" and "rare variants" and often argue about which kind of variation will be more important in disease risk. Both kinds of results provide challenges to direct translation into neurobiological understanding of autism, as they rarely reveal easily interpretable protein-coding mutations. Common polymorphism association signals often fall in noncoding sequences or between genes, and rare variants in autism have primarily been large deletions and duplications including many brain-expressed genes. In this project, we use an approach to “pathway” definition using gene expression data that can unite a number of autism-implicated common polymorphisms and rare variants into a network with functional implications.