Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism
Rochelle Naylor, MD, is an Instructor of Pediatrics in the Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism at the University of Chicago. Her research interest is in monogenic diabetes, a rare type of diabetes due to single gene mutations or chromosomal abnormalities, representing ~1-5% of all diabetes cases. Dr. Naylor focuses on the subtype of maturity-onset diabetes of the young (MODY), which is a clinically heterogeneous group of disorders with up to 11 described causative genes. A diagnosis of MODY has implications for disease course, treatment, and heritability, allowing for affected family members to be correctly classified and at-risk family members to have predictive genetic testing after genetic counseling. Thus, identifying MODY is important but difficult due to overlap in clinical presentation with type 1 and 2 diabetes. Dr. Naylor helped to expand and co-manages the University of Chicago Kovler Monogenic Diabetes Registry, which follows patients with neonatal diabetes and MODY. The aims of this national registry include estimating prevalence, identifying novel genes, clarifying genotype-phenotype relationships, establishing treatment guidelines, and better understanding the natural history of the various types of monogenic diabetes.