Simons Foundation

advancing research in basic sciences and mathematics

Grant

A system biology approach to autism genetics

Abstract

Autism is increasingly recognized as an extremely complex and heterogeneous condition, both in terms of its manifestations and causes, leading to the concept of the "Autisms" rather than a unitary condition. This necessitates new experimental approaches to define more homogeneous subgroups of patients. Based on emerging success in other diseases, we have shown that peripheral white blood cell gene expression patterns can be used to define a few simple subgroups of autism with different simple genetic causes, such as Fragile X or dup (15q). Here we propose to perform a pilot study to extend this work in a large number of families with idiopathic autism. We will perform gene expression profiling using microarrays in affected 300 probands and their unaffected siblings from the Autism Genetic Resource Exchange (AGRE) resource. This will provide whole genome data on which one can define autism subgroups, and integrate these data with other genetic data to identify causal genes. This project is an entirely novel direction of research that significantly leverages the infrastructure and resources in our laboratory and AGRE. These data will also be placed rapidly on the web, significantly enhancing the value of the AGRE resource for the community.

Investigator