Lydia Aguilar-Bryan, M.D., Ph.D.
Dr. Aguilar-Bryan studies the genetic causes of insulin secretory abnormalities, including diabetes and hypoglycemia
Dr. Aguilar-Bryan’s laboratory cloned the high affinity sulfonylurea receptor (SUR1), the regulatory sub-unit of the ATP-sensitive K channel (KATP), and has been screening for mutations in patients with insulin secretory abnormalities, including: Insulin Dependent Diabetes Mellitus IDDM), Non-Insulin Dependent Diabetes Mellitus (NIDDM), Hyperinsulinemic Hypoglycemia (HI), Ketosis Prone Diabetes (KPDM) and the Permanent and Transient forms of Neonatal Diabetes (ND) and doing structure-function studies, to understand how they cause disease.
Recently, Aguilar-Bryan and her team have started looking at the changes that occur in the pancreatic islet within the context of what has been called fetal origins of disease in adults, as it applies to diabetes mellitus. This project, using a new rat model of diabetes mellitus/gestational diabetes mellitus, aims to look at the changes that occur in pancreatic islets during the intrauterine life of the pup, when the mother is overweight or has gestational diabetes. Towards that goal, they have been working on identifying the changes that the islets go through in terms of architecture, vasculature, innervation and gene expression from embryonic to adult life.
Aguilar-Bryan's laboratory will continue to do the genetic analysis in babies, newborns and young adults with ND, HI and other diseases and the corresponding functional studies. They are initiating studies using small molecules (potentiators o correctors) with the objective to correct the function of the defective KATP channel which will improve the treatment of some of these diseases and therefore the quality of life in these children.