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.
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.
Working together as a national community of hospitals, healthcare organizations, researchers and clinicians, patients and families to identify the most important research questions that can reduce children’s suffering and support their healthy development.
The De León-Crutchlow Lab's translational research program focuses on examining the molecular genetics and 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.
The McCormack Lab studies the intersection of neuroendocrinology and metabolism, with two areas of focus. First, the lab studies genetic disorders with increased risk for diabetes mellitus, including mitochondrial diseases. Second, investigators in the lab focus on brain tumor-related hypothalamic obesity syndrome. Insights from these rare conditions may lead to better treatments for more widespread problems related to energy balance, including obesity and diabetes.
Revolutionizing our understanding of the genetic causes and mechanisms of hyperinsulinism, developing diagnostic tools for a precision-medicine approach to treatment, and discovering new treatment options.
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.