The overall objective of this project is to improve our understanding of the molecular basis of autism, which will lead to earlier and more accurate diagnosis of Autism Spectrum Disorders (ASD). We hypothesize that ASD is caused by the interplay of genetic predisposition and environmental factors, resulting in developmental neurological disability. Subsequent altered neuronal activity can then be profiled by microarray analysis. We believe that, analogous to expression profiles in cancer, there are reproducible differences in gene expression in the peripheral blood of individuals with ASD, compared to controls. To test this, peripheral blood RNA from ASD patients and controls will be profiled using Affymetrix Arrays. Differences in expression patterns will provide a signature for ASD that can possibly be developed into a diagnostic test for the disorder, which does not currently exist. Using Affymetrix Exon arrays, additional plans are to search for minor or aberrant splice forms of transcripts, which might play a role in disease pathogenesis. The low penetrance and variant phenotypes in monozygotic twins with ASD may indicate an alternate epigenetic pathological mechanism. In parallel with the peripheral blood samples investigated, aberrant splicing will be examined using post-mortem brain samples of autistic patients and age-matched controls. This project has the potential to change the way we classify individuals with ASD, as well as provide insight into the functional pathways underlying the disease.
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