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. Jyonouchi, is an attending physician with the Division of Allergy and Immunology and the Center for Cornelia de Lange Syndrome and Related Diagnoses at Children's Hospital of Philadelphia. His research focuses on immunodeficiency in Cornelia de Lange syndrome and other genetic syndromes, and asthma.
Dr. Lambert's research focuses on understanding the mechanisms of inherited and acquired thrombocytopenia in pediatric patients. Using clinical translational methods to link discovery in rare platelet disorders with optimizing next-generation sequencing for clinical practice, she has been involved in the Undiagnosed Disease Network Program and the Frontier Program in Immune Dysregulation, incorporating genetics of platelet disorders and immunohematology.
Genetic counselor Sarah Raible works with families affected by rare diseases to explain complicated results of research testing and share novel discoveries.
2016 CRC RE@CH Award winners, Sarah Noon, MS, CGC (left) and Eileen Ford (right)
Not all superheroes wear masks and capes. At Children's Hospital of Philadelphia, clinical research coordinators are the often-unsung superheroes doing important work in plain clothes and in plain sight. A good coordinator makes the process of participating in clinical studies easy and enjoyable for families while capably
