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.
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.
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.
Providing state-of–the-art, individualized clinical support to children and families undertaking genetic and genomic testing. Offering interpretative and educational support to clinicians pursuing this testing for their patients. Facilitating the use of this rich phenotypic and genomic information to advance the research mission at Children’s Hospital of Philadelphia.
In advancing intellectual and developmental disabilities (IDD) research for more than 29 years, the Intellectual and Developmental Disabilities Research Center (IDDRC) wholeheartedly embraces today’s novel concepts and technologies to discover the causes of IDD and uses this knowledge to improve outcomes for affected people.