The Inborn Errors of Metabolism Program encompasses research in the diagnosis, pathophysiology and treatment of genetic metabolic diseases. Specific areas of support include:
- Studies of etiology, pathogenesis, prevention, diagnosis, pathophysiology, and treatment of these diseases
- Characterization of the genes, genetic defects, and regulatory alterations that are the underlying causes of these diseases
- Identification of genetic modifiers that alter the phenotype of these diseases
- Studies of the mutant enzyme and its effect on the structure and function of the protein
- Development of animal models for genetic diseases
- Development of technologies and methods for newborn screening
- Development and testing of dietary, pharmacologic, and enzyme replacement therapies
- Development of stem cell transplantation, both prenatally and postnatally, as a treatment for metabolic diseases.
For further information, contact Dr. Catherine McKeon, Senior Advisor for Genetic Research.