Beckwith-Wiedemann Syndrome

Dr. Cielo is a board-certified pediatric pulmonologist and sleep medicine physician with a background in clinical and translational research and the director of the CHOP Sleep Center. His research program is focused on improving the evaluation and management of obstructive sleep apnea in children through single-center and multi-site clinical trials and observational studies.

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. 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.