Medical Genomics and Metabolic Genetics Branch

HIBCH figure - Progeria Cells - Pedigree

Investigators in the Medical Genomics and Metabolic Genetics Branch (MGMGB) use a broad range of tools to understand how health and disease are related to genetic, genomic and metabolic variation. They study a broad spectrum of disorders, from common diseases associated with common variants to the rarest diseases associated with uncommon, sometimes unique variants. They sometimes study disorders that are not inherited at all, which are due to somatic mosaicism-a difference in genetic composition among cells in an individual. They also study how the genome influences normal metabolic processes.

MGMGB investigators apply tools ranging from high-throughput biology to clinical and animal research. A unifying theme in their research is that the human is the most complex, fascinating and important system in which one can study the effects of heritable variation.

Research efforts within the branch advance the development of treatments for a number of diseases. Some are at a basic research level, where investigators study genetic variation to identify pathways that can be targets for common diseases, such as diabetes and common birth defects. Some research efforts are closer to clinical implementation, including developing improvements in clinical management of rare diseases and trials of small molecule therapies for inherited and mosaic genetic disorders. In addition, branch members are developing gene transfer therapy. Many of these clinical studies take place at the NIH Clinical Center, the largest research hospital in the world.

MGMGB investigators use the rich resources and technologies of the Human Genome Project to develop more sophisticated ways of understanding pathophysiology, diagnosis and treatment of disease.