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Consortium delves into autism disease targets, diagnostics
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."