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Children's Hospital Contributes Genotype Data to Enhance Autism Research Worldwide
Date:4/7/2008

PHILADELPHIA, April 7, 2008 /PRNewswire-USNewswire/ -- The Children's Hospital of Philadelphia has contributed a large genotype dataset to the Autism Genetic Resource Exchange (AGRE), a scientific program of the organization Autism Speaks, dedicated to advancing genetic research in autism. This large genetic dataset will now be broadly accessible to autism researchers worldwide.

The Center for Applied Genomics at Children's Hospital employs highly automated microarray technology to perform high-speed genome analysis. The center's HumanHap550 system, manufactured by Illumina, Inc., analyzed 4,500 DNA blood samples gathered by AGRE and generated genotypes -- a compilation of 550,000 genetic markers for each person. Children's Hospital then contributed the genotyped data to AGRE.

By studying patterns of variation in those genotypes, researchers using the AGRE resources will be able to discover and investigate multiple genes that may contribute to autism. Previous family studies have strongly suggested a genetic contribution to autistic spectrum disorders (ASDs). The 4,500 individuals who provided blood samples for the genomic analysis represent approximately 900 families, including 1,250 children with ASDs, their parents and their unaffected siblings.

"We are extremely pleased to provide these genotypes to the public domain," said Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at Children's Hospital. "Scientific work using AGRE's data repository will complement our own comprehensive research and clinical programs in autism at Children's Hospital, aimed at finding the causes and cure for this devastating disease." Maja Bucan, Ph.D., professor of Genetics at the University of Pennsylvania, a collaborator on the project and a long-time member of the AGRE steering committee, predicts that "the high-density genotype data on the AGRE families will provide novel insight into a genomic landscape of autism and other
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SOURCE The Children's Hospital of Philadelphia
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