Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.
Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.
Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease. His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.
Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.
The Center for Applied Genomics (CAG) develops new and better ways to diagnose and treat children with genetic disorders, including attention-deficit/hyperactivity disorder, asthma, diabetes, inflammatory bowel disease (IBD), obesity, and numerous rare diseases. With a goal of generating new diagnostic tests and therapies, CAG is among the world's largest genetics research programs and the only pediatric center with state-of-the-art high-throughput genomics technology.
Training the next generation of investigators has long been a priority at Children's Hospital of Philadelphia. There are numerous opportunities throughout the year to celebrate the accomplishments of our trainees and honor their commitment to science.