Beckwith-Wiedemann Syndrome | CHOP Research Institute
 

Beckwith-Wiedemann Syndrome

The Center for Human Phenomic Science Sleep Core supports clinical sleep research with a staff of pediatric sleep technologists, designated research beds, and state-of-the-art equipment or various sleep-related research initiatives.

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Children and adults with Beckwith-Wiedemann syndrome may be at increased risk for sleep apnea than other children.

The Kalish Lab studies the genetic and epigenetic causes of growth disorders and cancer predisposition. They focus on Beckwith-Wiedemann syndrome (BWS), the most common epigenetic and cancer predisposition disorder, and run the BWS registry and biorepository.

Facilitating interaction between Beckwith-Wiedemann Syndrome (BWS) clinical experts, scientists, patient advocates, and BWS families to improve diagnosis, quality of care, and knowledge about BWS.

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.

E-mail:
cieloc [at] chop.edu

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).

E-mail:
kalishj [at] chop.edu

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.

E-mail:
stanleyc [at] chop.edu
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