Researches the complex genetics of metabolic syndrome, involving obesity, cardiovascular disease and type 2 diabetes.
Obesity and Type 2 diabetes mellitus (T2D) are highly prevalent metabolic diseases that afflict a large proportion of the aging population in the United States. Nearly 40 percent of adults are obese, and about 10 percent of individuals over 65 have T2D. These diseases, together with cardiovascular disease, should be viewed as aspects of a metabolic syndrome that is a result of the interaction of many genes, rather than a collection of separate entities. To illustrate the complexity of the issue, there are approximately 500 to 1,000 genes in mice that may lead to obesity when mutated. Our program aims to identify new obesity and type 2 diabetes mutations and their genetic modifiers and to determine how the underlying mutations cause the disease phenotype.
One focus of our investigations are ciliopathies (diseases caused by impaired function of primary cilia), which combine aspects of metabolic syndrome with sensory loss. Our laboratory identified a human gene, ALMS1, that is mutated in patients with Alström syndrome, a rare inherited condition characterized by childhood obesity, retinal and cochlear (inner ear) degeneration, type 2 diabetes, proliferative and dilated cardiomyopathy, hepatosteatitis, and kidney disease.
1989
Postdoctoral fellow, molecular biology
Children’s Hospital, Oakland, CA
1983
Ph.D., biochemistry/microbiology
University of Erlangen, Erlangen, Germany
1980
M.S., chemistry
University of Erlangen, Erlangen, Germany
2005-Present
Professor, The Jackson Laboratory, Bar Harbor, ME
1999-2005
Associate Professor, The Jackson Laboratory, Bar Harbor, ME
1994-1999
Assistant Professor, The Jackson Laboratory, Bar Harbor, ME
1991-1994
Research Scientist, The Jackson Laboratory, Bar Harbor, ME
1989-1991
Assistant Research Molecular Biologist
Children's Hospital, Oakland Research Institute, Oakland, CA
1979-1983
Instructor, Department of Biochemistry
University of Erlangen, Erlangen, Germany
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