Consortium delves into autism disease targets, diagnostics

The Autism Gene Discovery Project is being called the first comprehensive genetic association study to examine the entire human genome related to autism.

Jeffrey Bouley
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BOSTON—In late August, a clinical collaboration called the Autism Gene Discovery Project launched, bringing together 11 Boston-area institu­tions—under the umbrella of the Autism Consortium—for what is being called the first comprehensive genetic asso­ciation study to examine the entire human genome related to autism.
According to a news release from the Autism Consortium, this project brings together for the first time new genetic analysis technology, devel­oped by Affymetrix, with the patient samples and experts necessary to definitively iden­tify the set of genes that cause autism. Autism is reportedly the fastest growing disability in the United States—a child is diagnosed with autism every 21 minutes and it now affects one in every 166 children in the country.
"Each group involved in the consortium has developed a plan as to what they can con­tribute as part of our integrated strategy," says Peter Barrett, president of the Autism Consortium board of directors. "There are many small proj­ects going on in terms of clini­cal genetics and phenotyping that are being led by various members of the consortium. But this study is the first major project, a comprehensive look at the genetics of autism to help us understand the mechanisms that will lead to better predic­tive tests for autism, better clinical diagnostic tools [which will] help us identify targets for therapeutic intervention at some point."
The project could not have gone forward, though, without the kind of technol­ogy being brought to the table by Affymetrix, notes Dr. Mark Joseph Daly, an assistant geneticist at Massachusetts General Hospital and a member of the Autism Consortium's executive commit­tee.

"The current generation of whole-genome products—which primarily means the Affymetrix and Illumina arrays at present—are allowing us to take a much more detailed look at the human genome than was possible before," he says. "This technology allows us to look at the majority of common genetic variations in the genome, and this is the first point in time we've been able to say anything remotely in that neighborhood."
Specifically, the consortium will make use of Affymetrix's GeneChip Human Mapping 500K Array, which will enable the com­prehensive measurement of poly­morphisms and gene copy number in DNA samples of children with autism.
"A big challenge with autism or any neuropathic disorder, for that matter, is that everything sug­gests that these diseases are het­erogeneous and complex," says Dr. Tom Willis, VP, DNA marketing at Affymetrix. "There are almost certainly many genes contributing subtle effects that together cause autism. You need a lot of research experience to be brought together, along with technology that will let you really dig into a good genotype sample, to untangle this genetic web and even think about a cure."
In addition to the 500K array, the autism study will use 3,700 samples provided by the Autism Genetic Resource Exchange, a DNA repository and family registry for autism sponsored by the Cure Autism Now Foundation. Experts from the Autism Consortium will conduct the research in collabo­ration with the Broad Institute of MIT and Harvard.

Jeffrey Bouley

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