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DNA Sequencing Consortium Finds Patterns of Mutations in Autism, Highlighting Potential Risk Factors

PHILADELPHIA — Researchers have long recognized that autism runs in families, suggesting a genetic component. Yet, few genes have so far been identified and the underlying genetic nature of autism — how many genes contribute and to what extent they influence a person's chances of developing the disorder — remains poorly understood.

Now, a consortium led by several institutions, including the Perelman School of Medicine at the University of Pennsylvania, has taken a step toward addressing these questions by searching for mutations in the fraction of the human genome that codes for proteins. The researchers sequenced this region, known as the exome, in 175 autism patients and their unaffected parents, looking for single-letter DNA changes present only in the children. Their results, along with simultaneously published findings from two other research groups, suggest modest roles for hundreds of genes in the development of autism and pinpoint a few specific genes as genuine risk factors. The work is described in a paper that appears online this week in Nature.

"The genetic basis of autism is incredibly complex, and progress has been slow and frustrating," says co-author Gerard Schellenberg, PhD, professor of Pathology and Laboratory Medicine. “This study, using technology that has only become available in the past two years, is the start of finding genes that cause autism, and this work will help identify the underlying cause of this tragic disorder."

Schellenberg, co-author Li-San Wang, PhD, assistant professor of Pathology and Laboratory Medicine, and the Penn team performed some of the NextGeneration DNA sequencing used in the study.

The consortium focused its attention on a particular set of mutations, specifically single-letter mutations that are not present in the parents' DNA but instead appeared spontaneously in the children — de novo point mutations. Although it is not yet clear exactly when these changes arise, such genetic variations tend to be rare but also more severe in their impact on gene function. With such extreme effects, they can serve as important signposts toward genes involved in autism. For more, see the summary from the lead institution, the Broad Institute of MIT and Harvard University.

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Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise.

The Perelman School of Medicine is currently ranked #2 in U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $479.3 million awarded in the 2011 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top 10 hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital — the nation's first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2011, Penn Medicine provided $854 million to benefit our community.

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