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. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).
Dr. Hartung is the interim director of CHOP's Sickle Cell Center and the director of innovation of the CuRED Frontier Program. His clinical focus is on bone marrow failure syndromes and sickle cell disease and his research focus is on entrepreneurial science and medical device development.
Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.
Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.
Dr. Lindell’s research program is centered on the biology of critical illness in children with immune dysfunction. His current translational research is focused on pediatric septic shock and the development of multiple organ dysfunction syndrome (MODS) in critically-ill children.
Dr. Alexander-Bloch investigates normal brain development and the altered developmental trajectories that lead to mental illness. His multi-disciplinary research integrates brain imaging, genomics and clinical information.
Dr. Stephenson is an attending pediatric neurologist and medical director of Operations and Outreach for the Division of Neurology at CHOP. She has special interest in neurobehavioral and neurodevelopmental disorders including ADHD, autism, Tourette syndrome, learning disabilities, and developmental delay.
Lisa Blaskey, PhD, is a clinical neuropsychologist at the Center for Autism Research and the Lurie Family Foundations MEG Imaging Center. Dr. Blaskey serves as a co-investigator and clinical expert on ASD neuroimaging studies, designing clinical and neuropsychological phenotyping batteries.
Dr. Marks investigates the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles; the assembly, delivery and function of their contents; and how these processes are impacted by genetic diseases.
