Dott. Ian Krantz

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Prof. Ian Krantz

He is a Division Chief of Medical Genetics at Cohen Children’s Medical Center and System Vice President of Genetics at Northwell Health in New
York and the Zucker School of Medicine at Hofstra University. He is also an Emeritus Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and attends a monthly Cornelia de Lange Syndrome (CdLS) and Related Diagnoses Clinic in the Center for Cornelia de Lange Syndrome and Related Diagnoses at the Children’s Hospital of Philadelphia (CHOP). He formerly served as Co-Director of CHOP’s Roberts Individualized Medical Genetics Center. Dr. Krantz is the chairman of the medical and advisory board of Fondazione CHOPS. His research interests are focused on identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental disorders and assessing
the genomic implications of the genes and pathways perturbed in these diagnoses. His research lab has focused on projects studying the molecular etiologies of 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 and 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. Clinically, he has been
at the forefront of adapting new genomic technologies in the clinical setting (such as rapid genome sequencing into the NICU and CICU) 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.