Columbus Children's and the Autism Genome Project

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Dear Friend of ASO:

Information from Columbus Children's Hospital on their role in the Autism Genome Project. FYI - please share.

Sincerely,

Barbara C. YavorcikPresidentAutism Society of Ohio701 S. Main St.Akron, OH 44311(330) 376-0211fax: (330) 376-1226email: askASO@...home: byavorcik@...web: www.autismohio.org Please note: This is provided for information purposes only. The ASO does not endorse or recommend any providers, methodologies or services. Providing this information should not be construed as an endorsement by the ASO, either explicit or impiled.

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COLUMBUS CHILDREN'S RESEARCH INSTITUTE PLAYS MAJOR ROLE IN AUTISM GENOMEPROJECTPreliminary results from the largest genome scan ever attempted in autismresearch have just been published in Nature Genetics. Investigators fromColumbus Children's Research Institute at Columbus Children's Hospital,joined scientists from around the world to form the first-of-its-kind autismgenetics consortium known as the Autism Genome Project (AGP). Theinternational collaboration was funded by Autism Speaks, a non-profitorganization dedicated to raising awareness of autism, and the NationalInstitutes of Health (NIH). The Center for Quantitative and ComputationalBiology at Columbus Children's Research Institute is the project's DataCoordinating Site, playing a significant role in the management of the datacollected for this research. The AGP began in 2002 when over 120 scientists from more than 50institutions came together to share their samples, data, and expertise tofacilitate the identification of autism susceptibility genes. Using "genechip" technology, the consortium searched for genetic commonality inautistic individuals culled from almost 1,200 families. The AGP also scannedDNA from these families for copy number variations (CNV), or sub-microscopicgenomic insertions and deletions that scientists believe might be involvedwith autism and other common diseases. As the Data Coordinating Site, Columbus Children's collected data from allthe collaborating institutions and created one comprehensive database,supplying consistent, accurate information back to all investigators workingon this research. "The project is a major effort, involving a significant number ofresearchers and families affected by autism," said Vieland, PhD,director, Center for Quantitative and Computational Biology at ColumbusChildren's Research Institute and a professor of Pediatrics at The OhioState University. "We're very pleased to have the opportunity to contributeto this research. "From years of studies, strong evidence points to genetics as an importantfactor in causing autism," said Dr. Vieland. "The AGP effort is aimedcharacterizing the specific genes involved, which holds the promise of newand more effective diagnostic and treatment approaches for autism spectrumdisorders." The AGP's innovative work implicates a previously unidentified region ofchromosome 11, and neurexin 1, a member of a family of genes believed to beimportant in neuronal contact and communication, among other regions andgenes in the genome. The neurexin finding in particular highlights a specialgroup of neurons, called glutamate neurons, and the genes affecting theirdevelopment and function, suggesting they play a critical role in autismspectrum disorders. "By combining cutting edge CNV analysis with the more traditional linkageand association [analyses], the scientists now have a promising newexperimental framework to look for autism susceptibility genes," said AndyShih, Autism Speaks chief science officer. "These exciting findings from theAGP linkage scan confirm the value and contribution of multidisciplinarycollaboration to advancing autism research."Building on this current success, phase 2 of the project is now under way,with researchers scanning the genome for association with new geneticmarkers, as well as sub-microscopic copy number variations (CNVs) alongchromosomes in autism. These findings will guide high-throughput DNAsequencing experiments designed to pinpoint underlying changes in DNAsequences in autism susceptibility genes to ultimately allow researchers toconfirm the role of these genes in autism spectrum disorders. AOL now offers free email to everyone. Find out more about what's free from AOL at AOL.com.