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Genes Linked to Autism


Bernie Devlin, PhD

Kathryn Roeder, PhD

Three papers recently published in the journal Nature provide new insights into the genetic architecture of autism spectrum disorders (ASD).   Bernie Devlin, PhD, Associate Professor of Psychiatry, Human Genetics and Clinical and Translational Science at the University of Pittsburgh, and Kathryn Roeder, PhD, Professor of Statistics at Carnegie Mellon University, performed analyses for two of the studies. Investigators identified genetic mutations in subjects with autism, not carried by their parents, and estimated they could account for up to 15 percent of all autism cases.  Although it is accepted that genetics make a strong contribution to ASD, most of the underlying causes remain unknown. In addition, despite the identification of specific DNA sequence variations associated with ASD, their exact contribution to disease has yet to be clarified. The new studies sequence the coding regions of the genome in parent-child trios with ASD and unaffected siblings in an attempt to better understand the genetic basis of these disorders.  Together, these studies suggest that genetic risk for ASD traces to variation in multiple unrelated locations within the genome. Despite revealing unprecedented genetic complexity the studies provide a basis for future gene discovery, diagnostics and therapeutics. Please visit the journal website for more information: (http://www.nature.com/nature/journal/vaop/ncurrent/full/nature10945.html).