Stephen Stone, MD, an assistant professor of pediatrics at WashU Medicine, and collaborator Elif Oral, MD, a professor in the Division of Metabolism, Endocrinology and Diabetes at the University of Michigan, have been awarded a $3.7 million grant from the National Institute of Diabetes and Digestive and Kidney Diseases of the National Institutes of Health (NIH) to study partial lipodystrophy, a rare genetic condition that causes the body to lose fat in different regions of the body. The disease causes severe insulin resistance, complex diabetes and high cholesterol.
Building on the NIH-funded Rare and Atypical Diabetes Network (RADIANT), where five study participants were recruited and their genetic changes identified, the research team will use induced pluripotent stem cells, cells reprogrammed in the lab back to their stem-cell-like state, to evaluate these genetic variants.
