These People Know About The Strong Risk Factor of Paternal Age in Autism But No Public Health Warnings

CHOP Genotypes 4,500 Samples for Autism Genetics Research

[April 7, 2008]

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By a GenomeWeb staff reporter


NEW YORK (GenomeWeb News) – The Children’s Hospital of Philadelphia said today it has contributed a set of genotype data to the Autism Genetic Resource Exchange, or AGRE, which it gained through analyzing 4,500 samples AGRE had gathered.

CHOP's Center for Applied Genomics performed the genotyping with an Illumina HumanHap550 system.

The samples used in the analysis came from 4,500 individuals from around 900 families, including 1,250 children with autism spectrum disorders, their parents, and their siblings.

AGRE is a program of the organization Autism Speaks, which will make the genetic dataset accessible to researchers worldwide, CHOP said.

University of Pennsylvania researcher Maja Bucan, who is a collaborator on the project, said the high-density genotype data will provide novel insights into the genomic landscape of autism as well as other neurodevelopmental disorders.






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
http://www.autismspeaks.org.



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 http://www.chop.edu.



Contact: John Ascenzi

Phone: (267) 426-6055

Ascenzi@email.chop.edu










SOURCE The Children's Hospital of Philadelphia