Beckwith-Wiedemann Syndrome | CHOP Research Institute

CHPS Sleep Core

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.

In The News: Sequencing Bone Marrow DNA, Neonates, Greening Interventions, Beckwith-Wiedemann Spectrum

Published on

Dec 10, 2021

in Cornerstone Blog

Our research news highlights a study about sequencing bone marrow DNA after CAR T-cell therapy and how it accurately predicts leukemia relapse.

Sleep Apnea in People with Beckwith-Wiedemann Syndrome

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

Kalish Laboratory

The Kalish Lab studies the genetic and epigenetic causes of growth disorders and cancer predisposition. The lab focuses on studying Beckwith-Wiedemann syndrome (BWS), the most common epigenetic and cancer predisposition disorder, and also runs the BWS registry and biorepository.

Sleep Center

Actively engaging in research dedicated to better understanding of how to treat sleep problems in children.

Beckwith-Wiedemann Syndrome Program of Excellence

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.

Christopher M. Cielo, DO

Dr. Cielo conducted clinical and translational research related to the mechanisms and effects of obstructive sleep apnea in children, with a specific focus on infant populations, children with craniofacial conditions, and the use of MRI and other imaging modalities to understand structural contributors to obstructive sleep apnea in children.

E-mail:

cieloc [at] chop.edu

Jennifer M. Kalish, MD, PhD

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

Charles A. Stanley, MD

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

Four Investigators Awarded Childhood Cancer Research Grants From St. Baldrick's

Published on

Oct 18, 2018

in Cornerstone Blog

New St. Baldrick's research grant awards support our investigators' exploration of new approaches to pediatric cancer.