The Section of Genetics and Metabolism pursues basic research on numerous inherited conditions. Research involves the identification of the genetic basis of inherited disorders, both rare and common. In several rare genetic diseases, current research delineates the spectrum of mutations and how they can predict outcome. Translational research efforts are bringing these new findings to clinical care through our service laboratories. Mutagenesis studies review the impact of environmental variables on producing genetic changes.
Several of our Section’s large studies involve gene discovery in complex diseases, including various autoimmune diseases and cleft lip and palate, one of the most common birth defects. We have organized VitGene, an international consortium of investigators in multiple countries, and are now performing a very large genome-wide association study of generalized vitiligo (one of the most common autoimmune diseases), which is studying autoimmune thyroid disease in development. We have also carried out an extensive examination of the developmental genetics of facial development in the mouse, with the long-term goal of identifying genes responsible for human facial development that may play important roles in cleft lip and palate.
For select genetic conditions, we are examining the mechanisms by which genetic changes lead to clinical symptoms. This research involves basic scientific concepts, such as mechanisms of neuronal development, and opens the possibility for new therapeutic avenues, which we can then further pursue in translational clinical studies. Efforts are under way to explore conditions as varied as glutaric aciduria type I, homosytinuria due to cystathionine beta-synthase deficiency, nonketotic hyperglycinemia, mitochondrial liver disorders, and Down syndrome. We are performing treatment studies that include the use of stem cell treatment for genetic conditions including Down syndrome.
Clinical research in our Section includes studies to describe the clinical spectrum of disorders, such as skeletal dysplasias, and studies on comprehensive care, including new treatments for neurofibromatosis, lysosomal storage disorders, and phenylketonuria. An extensive regional study on the long-term outcome of patients identified through newborn screening is coordinated by our Section.