New Genetic Syndrome Found

3rd March, 2015

6 March 2015, News

[Source: Science Daily]
chop

Analyzing a puzzling multi-system 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.
Read the Rest of this Article on Science Daily

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