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.
Finding out Cornelia de Lange Syndrome (CdLS) causes could be extremely important to understanding human development at all levels, which is why Ian Krantz, MD, medical director of the Center for Cornelia de Lange Syndrome and Related Diagnosis at CHOP, and his colleagues have dedicated the past two decades to research that is piecing together the basic biology of CdLS.
The Krantz lab focuses on identifying molecular etiologies of multisystem developmental diagnoses, structural birth defects, and intellectual disability. Using cellular and animal models, the investigators study newly identified genes towards identification of therapeutic targets. The lab is at the forefront of adapting new genomic technologies to the clinical setting and studying the impact on the clinicians and families involved.