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Autism Gene Identified by Yale and Global Consortium

Yale School of Medicine autism experts Fred R. Volkmar, M.D., and Ami Klin are part of a global research consortium from 19 countries that identified an individual gene and a// region of a chromosome that may lead to autism in children.

The findings are published online in Nature Genetics and also will be published in the journal’s March print edition. They are based on the largest autism genome scan done to date. The Autism Genome Project (AGP), including over 120 scientists from over 50 institutions who formed performed the research. The AGP began in 2002 when researchers from around the world decided to collaborate and share their samples, data and expertise to aid in identifying autism susceptibility genes.

Funded by Autism Speaks, a national non-profit organization dedicated to increasing awareness of autism and raising money to research the disorder, and the National Institutes of Health, these are the preliminary findings from the AGP’s first phase.

The consortium used “gene chip” technology to look for genetic similarities in autistic individuals identified within almost 1,200 families. They also scanned the DNA to search for copy number variations, which are submicroscopic insertions and deletions of genetic material that scientists believe may be linked to autism and other disorders.

The researchers found a specific gene called neurexin 1. It is one of a family of genes that plays a role with the neurotransmitter glutamate, which has been previously linked to autism. They also identified a section of chromosome 11 that may contain a gene involved in autism susceptibility. That specific gene has not yet been pinpointed.

“We have known for years that autism is a strongly genetic disorder—this study helps us to significantly advance research on genetic mechanisms,” said Volkmar, study co-author, Yale Child Study Center Director and the Irving B. Harris Professor of Child Psychiatry, Pediatrics and Psycholo
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