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Children's Hospital Contributes Genotype Data to Enhance Autism Research Worldwide

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 neurodevelopmental disorders."

Drawing on data from AGRE's open-access database, researchers from multiple institutions have previously published over 120 scientific papers on the genetics of autism. "These new genotypes greatly enhance the resources we can offer to the worldwide community of scientific investigators by complementing and extending the genotype data made available by other research teams," said Clara Lajonchere, Ph.D., Vice President of Clinical Programs for Autism Speaks and the Director of the AGRE Program.

The Center for Applied Genomics at Children's Hospital has been collaborating in ongoing gene discovery projects with the hospital's robust autism research program. Children's Hospital and investigators from the University of Pennsylvania recently launched a Center for Autism Research, which delves into underlying biological mechanisms in ASDs, along with brain imaging studies of language and communication impairments. That center works hand-in-hand with the hospital's long-established Regional Autism Center, which provides comprehensive, family-based care for children with ASDs. Among the Regional Autism Center's many research studies is its participation in a multicenter national project dedicated to early autism diagnosis and intervention.

About Autism Speaks: Autism Speaks is dedicated to increasing awareness of autism spectrum disorders, to funding research into the causes, prevention and treatments for autism, and to advocating for the needs of individuals with autism and their families. It was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Vice Chairman, General Electric, and served as chief executive officer of NBC for more than twenty years. The Autism Genetic Resource Exchange is a program of Autism Speaks which collects biomaterials and clinical data from families and makes it widely available to approved researchers. To learn more about Autism Speaks, please visit

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit

Contact: John Ascenzi

Phone: (267) 426-6055

SOURCE The Children's Hospital of Philadelphia
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