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.