Rob Hegele, Scientist

Why I Became a Scientist

From my parents, I developed at an early age a great appreciation for academics and learning. I attended the University of Toronto and received my medical degree in 1981. Specialty training in Internal Medicine and Endocrinology was followed by four years of post-doctoral training, first at the Rockefeller University, New York City, in heart disease and cholesterol, and then in human genetics at the Howard Hughes Medical Institute in Salt Lake City, Utah. It was during my research fellowship in New York City that I became inspired to pursue research in genetics. With a strong belief in the power of human genetics and genomics to help solve fundamental problems related to human health and disease, my lab began researching the genetic basis of several human disorders, most notably several forms of dyslipidemia (high cholesterol) and type 2 diabetes.

Research Summary

Rob Hegele is an endocrinologist with an interest in lipidology and diabetes, who cares for >1700 patients. He is the Director of the Blackburn Cardiovascular Genetics Lab and London Regional Genomics Centre. He has trained many physicians in lipidology and several graduate students in human genetics. His laboratory has studied the genetic basis of diabetes and atherosclerosis in Canadian sub-populations and aboriginal communities. His lab discovered the molecular genetic basis of 12 human diseases, including hepatic lipase deficiency, Oji-Cree type 2 diabetes, familial partial lipodystrophy and endocrine-cerebro-ostedysplasia and has described >100 human mutations causing dyslipidemia, diabetes and atherosclerosis. He has published >450 original peer-reviewed articles and serves on numerous journal editorial boards, including Journal of Clinical Investigation, Circulation, Stroke, ATVB and Journal of Lipid Research. He has received numerous international awards recognizing his research and his work has been cited >9,000 times in the biomedical literature. He is listed in the ISI Web of Knowledge database as being in the top 1% of highly cited scientists in the world.

Research Questions and Disease Implications

Why do some individuals and families develop heart disease and stroke despite very clean living and healthy lifestyles?

Identification of new genes that can cause heart disease, stroke and such high risk conditions as diabetes, hyperlipidemia and hypertension.

Identification of new genes leads to new understanding of pathways for these diseases and is the first step in the development of new diagnostic methods and treatments.

Why are certain aboriginal groups in Canada so highly predisposed to developing diabetes?

Identification of new genes and the exacerbating environmental factors that cause diabetes can lead to new understanding of the underlying pathways and is the first step in the development of new diagnostic methods and treatments.

How is it that certain people can eat as much as they like and not gain any weight, while some others eat sparingly but cannot seem to lose weight?

Identification of new genes that create susceptibility to obesity can lead to new understanding of the underlying pathways and is the first step in the development of new diagnostic methods and treatments.


• 1975 Associate (Honours), Royal Conservatory of Music of Toronto
• 1981 MD (Honours), University of Toronto


• 1985 FRCP(C), Internal Medicine
• 1987 FRCP(C), Subspecialty certification, Endocrinology & Metabolism
• 1985- 87 Research Associate, Biochemical Genetics & Metabolism,
• Rockefeller University, New York, New York
• 1987-89 Research Associate, Human Genetics, Howard Hughes Medical Institute, Salt Lake City, Utah
• 1991 FACP, Internal Medicine
• 2004 FAHA
• 2007 FCAHS


1995 Young Investigator Award, American Federation for Clinical Research

2000 Canada Research Chair in Human Genetics, Tier I

2001 Elected to membership, American Society for Clinical Investigation

2001 American Heart Association Top Ten Scientific Discoveries for 2001

2001 Government of Ontario Distinguished Researcher Award

2001 Faculty of Medicine and Dentistry Award of Excellence, UWO

2002 Canadian Diabetes Association Young Scientist Award

2004 Edith Schulich Vinet Canada Research Chair in Human Genetics, Tier I

2004 Hellmuth Prize for Achievement in Research, UWO

2004 American Heart Association, Jeffrey M. Hoeg Award for Basic Science & Clinical Research, Arteriosclerosis, Thrombosis & Vascular Biology Council

2005 35th Charles H. Best Lecture Award, Toronto Diabetes Association

2005 Jacob J. Wolfe Distinguished Medical Research Chair in Human Gene Function

2006 William F. Grant and Peter B. Moens Award of Excellence, Genetics Society of Canada

2007 Distinguished University Professor Award, UWO

2007 Elected to Fellowship in the Canadian Academy of Health Sciences

2007 American Heart Association, Special Recognition Award in Arteriosclerosis, Scientific Council on Arteriosclerosis, Thrombosis and Vascular Biology

2007 Jean Davignon Distinguished Cardiovascular Metabolic Research Award

2009 Department of Medicine Research Award of Excellence, U.W.O.

2011 American Heart Association ATVB Distinguished Achievement Award, Scientific Council on Arteriosclerosis, Thrombosis and Vascular Biology       2012 Canada Research Chair Program. Exception Contribution to the College of Reviewers


 Hegele RA.  The envelope, please: nuclear lamins and disease.  Nature Med 2000; 6:136-137. (PMID: 10655095)

Hegele RA. Lamin mutations come of age.  Nature Med 2003; 9:644-645.  (PMID: 12778156)

Daar AS, Scherer SW, Hegele RA. Implications of copy – number variation in the human genome: a time for questions. Nature Rev Genetics 2006; 7: 414.
Pollex RL, Hegele RA. Genetic determinants of plasma lipoproteins. Nature Clin Pract Cardiovasc Med 2007; 4:600-609. (PMID: 17957207)
Oh J, Hegele RA. HIV-associated dyslipidaemia: pathogenesis and treatment. Lancet Infect Dis. 2007; 7:787-796. (PMID: 18045561)

Pollex RL, Hegele RA.  Genetic determinants of the metabolic syndrome. Nature Clin Pract Cardiovasc Med 2006; 3:482-9. PMID:  16932765
Joy T, Hegele RA. Is raising HDL a futile strategy for atheroprotection? Nature Rev Drug Discov 2008; 7:143-155. (PMID: 18239670)
Hegele RA. Plasma lipoproteins: genetic influences and clinical implications. Nature Rev Genetics 2009; 10:109-121. (PMID: 19139765)
Hegele RA, Reue K. Hoofbeats, zebras, and insights into insulin resistance. J Clin Invest 2009; 119:249-251. (PMID: 19244606)
Joy TR, Hegele RA. Narrative review: Statin-related myopathy. Ann Intern Med 2009; 150:858-868. (PMID: 19528564)

Wang J, Ban MR, Kennedy BA, Anand S, Yusuf S, Huff MW, Pollex RL, Hegele RA. APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia. Nature Clin Pract Cardiovasc Med 2008; 5:730-737.   (PMID:  18779834)
Joy TR, Hegele RA. Microsomal triglyceride transfer protein inhibition-friend or foe? Nature Clin Pract Cardiovasc Med 2008;5: 506-8. (PMID: 18506153)
Lahiry P, Torkamani A, Schork N, Hegele RA. Kinase mutations in human disease: Interpreting genotype-phenotype relationships. Nature Rev Genetics 2010; 11:60-74. (PMID: 20019687)
Johansen CT, Wang J, Lanktree MB , Cao H, McIntyre AD, Ban MR, Martins RA, Kennedy BA, Hassell RG, Visser ME, Schwartz SM, Voight BF, Elosua R, Salomaa V, O’Donnell CJ, Dallinga-Thie GM, Anand SS, Yusuf S, Huff MW, Kathiresan S, Hegele RA. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nature Genet 2010; 42:684-687. (PMID: 20657596)
Austin SE, Hegele RA. Clinical Implications of Direct-to-Consumer Genetic Testing for Cardiovascular Disease Risk. Can J Cardiol 2011; 27: 682-4. (PMID: 21652171)
Lee JH, Giannikopoulos P, Duncan SA, Wang J, Johansen CT, Brown JD, Plutzky J, Hegele RA, Glimcher LH, Lee AH. The transcription factor cyclic AMP-responsive element-binding protein H regulates triglyceride metabolism. Nature Med 2011; 17:812-815. (PMID: 21666694)
Lahiry P, Lee LJ, Frey BJ, Rupar CA, Siu VM, Blencowe BJ, Hegele RA.  Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing. PLoS One 2011; 6:e25400. (PMID: 21980446)
Johansen CT, Wang J, McIntyre AD, Martins RA, Ban MR, Lanktree MB, Huff MW, Péterfy M, Mehrabian M, Lusis AJ, Kathiresan S, Anand SS, Yusuf S, Lee AH, Glimcher LH, Cao H, Hegele RA. Excess of rare variants in non-GWAS candidate genes in patients with hypertriglyceridemia. Circ Cardiovasc Genet 2012; 5:66-72. (PMID: 22135386)
Basel-Vanagaite L, Zevit N, Zahav AH, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet 2012; 90:49-60. (PMID: 22226083)
Creider JC, Hegele RA, Joy TR. Niacin: Another look at an underutilized lipid-lowering medication. Nature Rev Endocrinol 2012; [E-pub ahead of print] (PMID: 22349076)

Contact Information

Robarts Research Institute
Room 4288A
1151 Richmond St. N.
London, ON  N6A 5B7

Assistant: Ericka Simon
Tel: 519-931-5774; Fax: 519 931-5218