Medical Genomics

Virtually all human diseases have a genetic component. These range from simple causal relationships in which single mutations are necessary and sufficient for the development of the disease (so-called Mendelian traits) to genetically complex traits in which multiple factors, both genetic and environmental contribute to disease susceptibility. Moreover the environmental contributors to disease impart their effects by altering the activities of biochemical pathways that are themselves genetically determined. Dramatic advances in molecular genetics and genomics has revealed that over a thousand human diseases have been identified at the molecular level. Research within this core offers opportunities for dramatic advances in human disease biology and falls into a number of distinct, not mutually exclusive areas: identification of genetic contributions to human disease; identification of biochemical pathways that are altered in disease; development of animal models of human disease; and pharmacogenomics.