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Robert A Hegele MD

MEMBER SINCE: Nov 22, 2005
LAST UPDATED: Jun 20, 2010

PROFILE: In my laboratory, we have used the candidate gene approach to discover the genetic basis of ten different human diseases. These are, namely, hepatic lipase deficiency (HL gene), Oji-Cree type 2 diabetes (HNF1A gene), Dunnigan-type familial partial lipodystrophy type 2 (LMNA gene) and type 3 (PPARG gene), inosine triphosphatase deficiency (ITPA gene), mucopolysaccharidosis type 3D (GNS gene), cystathioninuria (CTH gene) and carboxypeptidase N deficiency (CPN1 gene), non-response to ezetimibe (NPC1L1 gene) and, most recently, Barraquer-Simons acquired partial lipodystrophy syndrome (LMNB2 gene). We were also the first to publish causative LMNA mutations in progeria. An important priority has been translation of genetic findings back to the clinic. For instance, we showed a strong genetic association with atherosclerosis among carriers of HL mutations and among carriers of LMNA mutations, thus establishing these monogenic disorders as valid models for common, polygenic metabolic disturbances with atherosclerosis. The HNF1A G319S mutation, which is present in 40% of Ontario Oji-Cree with type 2 diabetes mellitus, may be the first example of a "thrifty allele" for aboriginal diabetes. Furthermore, we have discovered and characterized ~100 disease-causing mutations in candidate genes in Ontario families with dyslipidemia, type 2 diabetes, long QT syndrome and various metabolic disorders. We have evaluated gene-gene and gene-environment interactions in kindreds and populations. We have also studied genetically isolated Canadian populations, such as Alberta Hutterites, Ontario Oji-Cree and Nunavut Inuit, in order to identify the contributions of candidate genes to common complex traits such as dyslipidemia, hypertension, obesity, diabetes and coronary heart disease.

In addition, his laboratory has described >100 human mutations in known genes that contribute to dyslipidemia, diabetes and atherosclerosis. He was elected to the American Society for Clinical Investigation in 2001. His lab's work on partial lipodystrophy was recognized as a Top Ten Scientific Advance of the American Heart Association. He has published >290 scientific papers and has presented >100 times at international meetings. His work has been cited in >4500 times in a total of >3200 articles in the biomedical literature.

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Inst./Company Robarts Research Institute
Dept. Medicine & Biochemistry
Position Director, Blackburn Cardiovascular Genetics Laboratory
Province ON
Country Canada
Category Physician
Faculty Yes
Member Id# 137

Robert A Hegele


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Keywords: Food labeling, Food Science and Technology, Gene expression, Genetics