The Genetic Metabolic Disease program supports basic and clinical research that addresses the pathophysiology and treatment of inborn errors of metabolism and rare genetic metabolic diseases, such as lipodystrophy, maturity onset diabetes of the young (MODY), primary hyperoxaluria, systemic amyloidosis, and porphyria.
Lipodystrophy, a condition in which fat tissue is lost or redistributed in the body is associated with insulin resistance and type 2 diabetes. MODY, a monogenic form of diabetes that usually presents during adolescence or early adulthood, sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of the pancreas to produce insulin. Primary hyperoxaluria, overproduction of oxalate, is a rare genetic condition associated with kidney stones that can lead to kidney failure and injury to other organs. The systemic amyloidoses are a group of uncommon disorders characterized by progressive multi-system organ failure due accumulation of protein aggregates in tissues and organs. Porphyria is a term that refers to a group of disorders, the porphyrias, which affect the nervous system or skin, or both. Most porphyrias are inherited disorders due to the inborn errors of heme biosynthesis.
The program fosters interdisciplinary research in etiology, pathogenesis, prevention, diagnosis, pathophysiology, and treatment of these and other monogenic metabolic diseases. Special emphasis is on characterization of the genes, gene defects and regulatory alterations that are the underlying causes of these diseases. In the area of treatment, the development of animal models, dietary therapy, small molecule therapy, gene therapy and enzyme replacement therapies would be included. This program also supports studies aimed at development and implementation of newborn or population screening methods.