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. 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.
As a pediatric endocrinologist and director of the Congenital Hyperinsulinism Center at Children's Hospital of Philadelphia (CHOP), Diva De León-Crutchlow, MD, specializes in the diagnosis and management of hyperinsulinism (HI) and other hypoglycemia disorders.
More mothers are breastfeeding than ever before. However, getting breastfeeding going can be difficult. Babies with inherited metabolic disorders, such as medium-chain acyl-CoA dehydrogenase deficiency (let's just call it MCAD) can be especially vulnerable to low blood sugar if they aren't getting enough milk in the early days of breastfeeding.
We've had a flurry of activity this week at Children's Hospital of Philadelphia Research Institute, including our first snowstorm of the year. In between shoveling, we took a few minutes to dig into the latest research news.