Dr. Krantz is a Pediatrician and Medical Geneticist. He is Director of the Roberts Individualized Medical Genetics Center (RIMGC), Director of the Center for Cornelia de Lange Syndrome and Related Diagnoses and PI on the Medical Genetics Training Grant (T32) at The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania. His research lab has focused on projects studying the molecular etiologies of Cornelia de Lange Syndrome (CdLS), CHOPS syndrome, Pallister-Killian Syndrome (PKS), Alagille syndrome, hearing loss, congenital diaphragmatic hernias and congenital heart defects. Towards this end his lab has identified many new disease genes, novel human disorders and implicated many critical molecular pathways, such as Notch Signaling, Cohesin and the Super Elongation Complex, in human developmental disorders for the first time. Translationally he has been at the forefront of adapting new genomic technologies in the clinical setting and studying how this evolving, complex and often unclear diagnostic information is understood by, and the impact it has on, the clinicians and families involved.
