While strong familial evidence supports a substantial genetic contribution to the etiology of autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only a small minority of all cases. The key limitation currently is the relative lack of families available for genetic analysis. In order to comprehensively delineate the heterogeneous genetic components of autism including the identification of rare and common variants, overall sample sizes an order of magnitude larger than those currently under study are critically needed. This project is intended to use web-based recruiting to greatly expand DNA samples available for genetic analysis to determine the heterogeneous genetic causes of autism. A sample set of 1200 simplex tetrad families consisting of both parents, one affected child and the unaffected sibling will be collected, stored, and made available to researchers. Further, candidate gene re-sequencing will permit higher sensitivity detection of rare risk alleles for autism, identify potential new mutations that lead to autism and expand understanding of autism.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
