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GEN news highlights: Mar 2, 2011


Researchers are implicating several new candidate genes and genomic variants as contributors to autism and note that many more remain to be discovered. While the gene alterations are individually very rare, they mostly appear to disrupt genes that play important functional roles in brain development and nerve signaling. While an association between genomic variants in certain nervous system processes and autism has been hypothesized in the past, the scientists believe that their work definitively links these biological functions to autism.


“This large study is the first to demonstrate a statistically significant connection between genomic variants in autism and both synaptic function and neurotransmission,” states Peter S. White, Ph.D., a molecular geneticist and director of the Center for Biomedical Informatics at The Children’s Hospital of Philadelphia.


“Prior genomic studies of autism have successfully identified several genes that appear to confer risk for autism, but each gene appears to contribute to only a small percentage of cases,” adds Xiaowu Gai, Ph.D. “Our approach considered whether groups of genes with common biological functions collectively accounted for a greater percentage of autism risk.” Dr. White was senior author and Dr. Gai was lead author on the study, which appears online in Molecular Psychiatry. The paper is titled “Rare structural variation of synapse and neurotransmission genes in autism.”


Read in Full: http://www.genengnews.com/gen-news-highlights/genetic-roots-of-autism-found-to-be-highly-complicated/81244762/



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