Affiliations

Professor, Human Genetics

Member, Cell & Developmental Biology GPB Home Area, Center for Duchenne Muscular Dystrophy, Genetics & Genomics GPB Home Area, I3T Theme, Molecular, Cellular & Integrative Physiology GPB Home Area

Research Interest: Genes underlying disorders in lipid and glucose metabolism We are interested in identifying genes that underlie abnormalities in lipid and glucose metabolism using the mouse as a model. We are using techniques such as positional cloning and gene-trapping to identify novel genes that function in these processes. Much of our recent work has focused on the fatty liver dystrophy (fld) mutation, which results in lipodystrophy (lack of fat tissue) and diabetes. Using a positional cloning approach, we identified the fld mutation in a novel gene that we named Lipin. We are studying the role of lipin in fat and muscle in several models, including engineered mouse strains, cultured cells, human tissue, and invertebrate organisms. We have recently isolated a second novel gene via positional cloning from a mouse strain that is resistant to high cholesterol levels and atherosclerosis when fed a high fat diet. Mutation in this intestinally expressed gene confers resistance to detrimental effects of a high fat diet. We will further elucidate the function of this gene using mouse and cell culture models, and will investigate its involvement in human disease and potential as a drug target. A complementary approach to isolation of genes from mouse strains with specific phenotypes is a functional genomics approach. As members of the BayGenomics Gene-trap Consortium, we are generating and characterizing mouse strains with mutations produced in a high throughput manner to determine gene function and relevance to disease.

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