January 15, 2013 Contact: John Ascenzi, Children's Hospital of
Philadelphia, 267-426-6055 or email@example.com Genetics
researchers have identified 25 additional number variations
(CNVs)—missing or duplicated stretches of DNA—that occur in some
patients with autism. These CNVs, say the researchers, are “high
impact”: although individually rare, each has a strong effect in
raising an individual’s risk for autism. “Many of these gene
variants may serve as valuable predictive markers,” said the
study’s corresponding author, Hakon Hakonarson, MD, PhD,
director of the Center for Applied Genomics at The Children’s
Hospital of Philadelphia. “If so, they may become part of a
clinical test that will help evaluate whether a child has an
autism spectrum disorder.” Hakonarson collaborated with
scientists from the University of Utah and the biotechnology
company Lineagen, Inc., in the study, published Jan. 14 in the
journal PLOS ONE. The current study builds on and extends
previous gene research by Hakonarson and other sc