News Release: Research

Apr. 1,  2009

Genetic Causes of Autism Spectrum Disorders are Focus of New Clinical Study

From Woodruff Health Sciences Center News

Researchers at Emory University and Marcus Autism Center are collaborating with 12 other centers across the United States and Canada to identify genetic causes of autism spectrum disorders (ASD). Titled the Simons Simplex Collection, the study is sponsored by the Simons Foundation Autism Research Initiative (New York).

Patient families who meet certain criteria may enroll in the study, which focuses on “simplex” families who have one child age 4-17 with ASD. The initiative is collecting clinical assessments and genotyping on the child with ASD as well as the parents and unaffected siblings. Emory and its partners are recruiting up to 2,000 simplex families through the spring 2010.  Both biological parents and a typically developing sibling must be available to participate. Children with Down syndrome and families with more than one member diagnosed with ASD will not be eligible.

Autism is a complex developmental disability that causes problems with social interaction, behavior and communication. Because different people with autism can have very different symptoms, autism is viewed as a group of disorders within the “autism spectrum.”

“It is clear that autism is complex and does not have a single cause. We already know a few genetic causes of autism, and finding more will greatly enhance our understanding of the underlying biological processes, which is the first step towards development of better diagnostic tests and potential new treatments,” says Christa Lese Martin, PhD, associate professor of human genetics at Emory University School of Medicine and principal investigator of the Atlanta arm of the study.

Participant families will make two visits, either to the Emory Human Genetics Clinic, the Emory Autism Center or Marcus Autism Center. All eligible, participating families will receive a psychological and educational evaluation with a team of developmental pediatricians, psychologists, education specialists and geneticists. Upon completion, each family will receive a research summary that includes key findings and individualized treatment recommendations.

David Ledbetter, PhD, Robert W. Woodruff Professor of Human Genetics and director of the Emory Division of Medical Genetics, and Opal Ousley, PhD, assistant professor of psychiatry and behavioral sciences, are co-principal investigators of the project.

The Emory Genetics Laboratory is part of the Department of Human Genetics in Emory University School of Medicine, and the Emory Autism Center is part of the Department of Psychiatry and Behavioral Sciences. Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. 

For more information, contact the Simons Simplex Team at Marcus Autism Center at 404-785-9323 or


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