Grant: Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

As a part of a large collaborative effort, genome-wide scans of 419 unrelated autism probands have been performed using high density SNP chips. Data has been analyzed for genomic imbalances or Copy Number Variants (CNVs). This project has focused on CNVs on chromosome X, and has revealed a number of deletions and duplication of interest in autism probands. Further analysis revealed that N=54 regions do not overlap with CNVs identified in healthy controls, suggesting that these CNVs might be autism specific and harbor susceptibility genes. In addition, several of these CNV involve genes already associated with X-linked mental retardation. The present study will analyze these autism specific deletions and duplication in search of autism susceptibility genes. Interestingly, some of these deletions and duplications span or disrupt functionally important candidate genes, involved in cell signaling and neural development. Advanced techniques will be used to characterize these regions and assess the role of these genomic imbalances in etiology of autism. We anticipate that present study will identify autism candidate genes on chromosome X and will increase our knowledge of diagnostic and therapeutic targets of this disease.