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.
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.
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.
Dr. De Leon-Crutchlow’s translational research program focuses on examining the pathophysiology of disorders of insulin regulation, identifying novel therapeutic targets, and developing new therapies for these conditions. The program approach includes patient-oriented research and bench research employing mouse models and primary islet cultures.
Ear infections, e-cigarettes, and exciting collaborations, oh my! In this week's research news roundup, we followed the trails of our clinicians and investigators as they used expertise and evidence to weigh in on mainstream health issues. From how to design safer seats and belts in cars, to why e-cigarette sales should follow strict regulations, to discussions on the implications of
From cancer drugs designed to match a child's specific molecular abnormality, to a phone app that can offer a dermatologic diagnosis quicker than an office visit, the future of children's healthcare is unfolding right before our eyes at the Children's Hospital of Philadelphia Research Institute.