Results for Congenital Hyperinsulinism

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.

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. Ruchelli is an attending pathologist with the Congenital Hyperinsulinism Center and the Division of Anatomic Pathology at CHOP, and an associate professor of pathology and laboratory medicine at the University of Penn. His research focuses on congenital hyperinsulinism and eosinophilic esophagitis.

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Dr. Ackermann studies diabetes (types 1 and 2) and congenital hyperinsulinism using mouse models, cell lines, and primary human tissue. She aims to identify novel pathways regulating beta cell insulin secretion, leading to innovative therapeutic strategies for these disorders. Current studies include in vivo mouse physiology, ex vivo human islet physiology, CRISPR-Cas9 gene editing, epigenetic modification, and single-cell functional genomics.

The founder and director of CHOP's Center for Fetal Diagnosis and Treatment, Dr. Adzick is an innovator in the field of fetal medicine, pursuing groundbreaking prenatal treatment for debilitating birth defects. He led the NIH-funded "Management of Myelomeningocele Study" (MOMS) at CHOP, a breakthrough research program that showed fetal surgery for spina bifida results in significantly improved outcomes.

Dr. Leavens uses stem cell-derived beta cells to model pediatric beta cell disease, including monogenic diabetes and congenital hyperinsulinism. The goal of her studies is to better understand and develop novel therapeutics to treat these diseases.

Dr. Lord's research focuses on congenital hyperinsulinism, a rare disorder resulting in severe hypoglycemia at birth.

Dr. Pinney investigates the molecular mechanisms that link an adverse intrauterine milieu to the development of diabetes and obesity later in life. Specifically, she is researching how intrauterine growth restriction, gestational diabetes and in utero exposure to environmental toxicants contribute to the development of diabetes and obesity in offspring.