Published on in CHOP News
July 13, 2012 — Matthew A. Deardorff, MD, PhD, from CHOP’s Division of Human Genetics, received a three-year Clinical Scientist Development Award from the Doris Duke Charitable Foundation. Totaling $486,000, this award supports physician-scientists in the process of establishing their own research teams and enables them to devote the majority of their professional time to clinical research. Dr. Deardorff is one of 16 researchers nationwide to receive this award, announced on July 3.
Dr. Deardorff, an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania, is an attending physician and researcher in CHOP’s Center for Cornelia deLange Syndrome and Related Diagnoses, the world’s leading program focused on this multisystem genetic disease. Cornelia deLange Syndrome (CdLS), which affects an estimated 1 in 10,000 children, has a range of severity, but classically includes intellectual disability, impaired growth, heart defects, feeding problems, deformed arms and hands, and distinctive facial features.
Dr. Deardorff began his work at CHOP in the research lab of Ian D. Krantz, MD, leader of a research team that discovered the first gene mutations responsible for CdLS in 2004. Since establishing his own laboratory in 2008, Dr. Deardorff’s investigations have continued to identify additional genes involved in CdLS and focus on understanding how specific gene mutations disrupt a group of proteins called cohesins, which help to regulate the transmission of genetic information during cell division. Among his research goals is to translate knowledge of how these biological processes affect early development into future innovative treatments for CdLS and similar diseases.
John Ascenzi, Children’s Hospital of Philadelphia, 267-426-6055, Ascenzi@email.chop.edu