advancing research in basic sciences and mathematics
Genomic regions that have either fewer than or more than two copies (genomic ?loss? or ?gain? events) in an affected child are associated with increased risk for autism or autism spectrum disorders (ASDs). One such region is at the q11.2 band of chromosome 22 where such genomic ?loss? or ?gain? events have been identified among patients with autism or ASDs. We propose to analyze in depth the effects of two biological processes that we discovered to be affected as a result of the 22q11 ?loss? or ?gain? events. Specifically, we propose to utilize a number of reliable mouse models and a series of sophisticated experimental approaches to understand how these two processes affect neuronal development, synaptic plasticity and behavior and eventually increase the risk for autism. Our work stands to provide valuable insights into the ways the 22q11 locus increases the risk of ASDs and will serve as prototype to guide future analysis of other copy number mutations that cause autism or ASDs. Finally, our work will provide well-characterized animal models that can be used to facilitate future drug development efforts.
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