IMAGE:Dr. Ian D. Krantz is the co-director of the Individualized Medical Genetics Center at The Children's Hospital of Philadelphia. view more Credit: The Children's Hospital of Philadelphia Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it. "This syndrome illuminates a very important pathway in early human development--a sort of master switch that controls many other genes," said study leader Ian D. Krantz, M.D., co-director of the Individualized Medical Genetics Center at The Children's Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOP's comprehensive human genetics program. Krantz is the senior author of the study, published online today in Nature Genetics. His co-study leader is Katsuhiko Shirahige, Ph.D., of the Institute for Molecular and Cellular Biosciences, University of Tokyo, also the home institution of first author Kosuke Izumi. The investigators named the disorder CHOPS syndrome, with the acronym representing a group of symptoms seen in the affected children: cognitive impairment and coarse facies (facial features), heart defects, obesity, pulmonary involvement, short … Continue reading
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