Dr. Hegele’s research is aimed at understanding the genes that contribute to various human diseases, such as hepatic lipase deficiency, Oji-Cree type 2 diabetes, Dunnigan-type familial partial lipodystrophy type 2, Barraquer-Simons acquired partial lipodystrophy syndrome and progeria, among others. Population studies have also been utilized to identify candidate genes and disease-related mutations in complex disorders such as hypertension, diabetes and coronary heart disease.

A current large-scale initiative is aimed at developing a more sophisticated and complete structural and functional annotation of the human genome, including genomic variations such as splicing isoforms and large-scale copy variations. This resource can then be leveraged by the research community to evaluate the role of these newer genomic variations in various human diseases.

Dr. Hegele is Director and Blackburn Scientist at The Robarts Research Institute and Distinguished Professor of Medicine and Biochemistry at The University of Western Ontario. He holds the Jacob J. Wolfe Distinguished Research Chair in Functional Genomics and an Edith Schulich Vinet Canada Research Chair (Tier 1) in Human Genetics. He received his MD from the University of Toronto in 1981. Dr. Hegele has been recipient of many honours and awards including being named a Canadian Diabetes Association Young Scientist, Government of Ontario Distinguished Researcher Award and William F. Grant and Peter B. Moens Award of Excellence, Genetics Society of Canada.