The upcoming issue of TIME magazine includes research from a team of Penn Medicine and CHOP autism genetics experts among it’s Top Ten Medical Breakthroughs of 2009. The team first reported that multiple gene variants, both common and rare, may raise the risk of autism spectrum disorders (ASDs) in the journal Nature in April. The first study suggested that a particular genetic variation, found on a cluster between CDH10 and CDH9 on chromosome 5, is found in about 15 percent of children with autism, according to co-senior author Gerard Schellenberg, PhD, professor of pathology and laboratory medicine at the University of Pennsylvania School of Medicine. The second study identified missing or duplicated stretches of DNA along two crucial gene pathways. Both studies detected genes implicated in the development of brain circuitry in early childhood.

“This work yields important clues on what goes awry during development in children with autism and will help us focus on what is the cause of autism at a molecular level,” Schellenberg said. “This would not have been possible without the more than 10,000 children who contributed DNA for this study – including more than 4,500 children diagnosed with autism spectrum disorder – and the outstanding dedication of their families and the autism research community.”

In June, Penn Medicine autism genetic experts announced that they had identified an additional 27 genetic variations where missing or extra copies of DNA segments were found in children with ASD.

The research teams include Penn’s Gerard Schellenberg, PhD, professor of Pathology and Laboratory Medicine, Maja Bucan, PhD, professor of Genetics, as well as Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at the Children’s Hospital of Philadelphia and associate professor of Pediatrics at Penn, among others.


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 $5.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 18 years, according to 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 $373 million awarded in the 2015 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center -- which are recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report -- Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2015, Penn Medicine provided $253.3 million to benefit our community.

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