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 14 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


Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA. A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous skeletal, and endocrine systems. Am J Hum Genet 2009; 24:134-147. (PMID: 19185282)

Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning AK, Jensen MK, Rimm EB, Wang J, Rodrigues A, Bamba V, Khetarpal SA, Wolfe ML, Derohannessian S, Li M, Reilly MP, Aberle J, Evans D, Hegele RA, Rader DJ. Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. J Clin Invest 2009; 119:1042-1050. (PMID: 19287092)

Hegele RA. Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet 2009; 10:109-121. (PMID: 19139765)

Joy TR, Hegele RA. Narrative review: Statin-related myopathy. Ann Intern Med 2009; 150:858-868. (PMID: 19528564)

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. Nat Genet 2010; 42:684-687. (PMID: 20657596)

Teslovich TM, (+87 additional authors), Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466:707-713. (PMID: 20686565)

Lahiry P, Torkamani A, Schork N, Hegele RA. Kinase mutations in human disease: Interpreting genotype-phenotype relationships. Nat Rev Genet 2010; 11:60-74. (PMID: 20019687)

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. Nat Med 2011; 17:812-815. (PMID: 21666694)

Creider JC, Hegele RA, Joy TR. Niacin: Another look at an underutilized lipid-lowering     medication. Nat Rev Endocrinol 2012; 8:517-528. (PMID: 22349076)

Cuchel M, Meagher EA, du Toit Theron H, Blom DJ, Marais AD, Hegele RA, Averna MR, Sirtori CR, Shah PK, Gaudet D, Stefanutti C, Vigna GB, Du Plessis AM, Propert KJ, Sasiela WJ, Bloedon LT, Rader DJ; for the Phase 3 HoFH Lomitapide Study investigators. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolemia: A single-arm, open-label, phase 3 study. Lancet 2013; 381:40-46. doi: 10.1016/S0140-6736(12)61731-0 (PMID: 23122768)

Ng DS, Wong NC, Hegele RA. HDL – is it too big to fail? Nat Rev Endocrinol 2013; 9:308-312. (PMID: 23318230)

Anderson TJ, Grégoire J, Hegele RA, Couture P, Mancini GB, McPherson R, Francis GA, Poirier P, Lau DC, Grover S, Genest J Jr, Carpentier AC, Dufour R, Gupta M, Ward R, Leiter LA, Lonn E, Ng DS, Pearson GJ, Yates GM, Stone JA, Ur E. 2012 update of the Canadian Cardiovascular Society Guidelines for the diagnosis and treatment of dyslipidemia for the prevention of cardiovascular disease in the adult. Can J Cardiol 2013; 29:151-167. (PMID: 23351925)

Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Kees Hovingh G, Kovanen PT, Boileau C, Averna M, Boren J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; for the European Atherosclerosis Society Consensus Panel. Familial hypercholesterolemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. Eur Heart J 2013; 34:3478-3490. (PMID: 23956253)

Mancini GB, Tashakkor AY, Baker S, Bergeron J, FitchettD, Frohlich J, Genest J, Gupta M, Hegele RA, Ng DS, Pearson GJ, Pope J. Diagnosis, prevention, and management of statin adverse effects and intolerance: Canadian working group consensus update. Can J Cardiol 2013; 29(12):1553-1568. (PMID: 24267801)

Hegele RA, Ginsberg HN, Chapman MJ, Nordestgaard BG, Kuivenhoven JA, Averna M, Borén J, Bruckert E, Catapano AL, Descamps OS, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A, Watts GF, Wiklund O; on behalf of the European Atherosclerosis Society Consensus Panel. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.  Lancet Diabetes Endocrinol. 2013 Dec 23 pii: S2213-8587(13)70191-8. (PMID: 24731657)

Gryn SE, Hegele RA.  Pharmacogenomics, Lipid Disorders and Treatment Options.  Clin Pharmacol Ther. 2014 Apr 10. doi: 10.1038/clpt.2014.82 (PMID: 24722394)

Lahiry P, Racacho L, Wang J, Robinson J, Gloor GB, Rupar CA, Siu VM, Bulman DE, Hegele RA. A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder. Orphanet J Rare Dis 2013; 8:126. (PMID: 23957953). 2134 web accesses recorded as of 2014 03 24

Sacks FM, Stanesa M, Hegele RA. Severe hypertriglyceridemia with pancreatitis: Thirteen Years’ treatment with lomitapide. JAMA Intern Med 2014; 174:443-447. (PMID: 24366202)

Johansen CT, Dube JB, Loyzer MN, MacDonald A, Carter DE, McIntyre AD, Cao H, Wang J, Robinson JF, Hegele RA. LipidSeq: A next-generation clinical resequencing panel for monogenic dyslipidemias. J Lipid Res 2014; [E-pub ahead of print] (PMID: 24503134)

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