Our People

Stuart MacGregor

Professor | Group Leader

Statistical Genetics

+61 7 3845 3563



Professor Stuart MacGregor holds a PhD (2003) in statistical genetics from the University of Edinburgh in the UK. He was a lecturer in Genetic Epidemiology at Cardiff University UK from 2003 to 2005. In 2005 he moved to the Queensland Institute of Medical Research. He began student supervision as principal advisor in 2009, contemporaneous with an honorary appointment at University of Queensland (Senior Lecturer 2009-2012, with promotions to Associate Professor 2012-2020, Professor 2020). He was appointed lab head at QIMR Berghofer in 2012. His current position is Group Leader and Principal Research Fellow at QIMR Berghofer.

Professor MacGregor is an internationally recognized leader in complex trait genetics. As well as uncovering links between genes and disease, he develops methods for genetic analysis. In his time at QIMR Berghofer his work has focused primarily on eye disease and on germline cancer genetics; Professor MacGregor played a major role in several landmark genome wide association studies (GWAS) in 2008-2011 on these diseases.

Professor MacGregor currently leads international academic collaborations focusing on GWAS discovery and translation (founding member of international consortia in glaucoma, myopia and melanoma), as well as collaborations with industry (23andMe). Since his first NHMRC project grant as CIA began in 2008 and since then he has been continuously funded by the NHMRC (supplemented by many other funding national and international funding bodies subsequently). His work mapping genes and developing new bioinformatics tools in the fields of ophthalmology and cancer have led to invitations to speak at major conferences (>10k delegates) in those disciplines. While his primary work is academic research, Professor MacGregor has also engaged in teaching and commercialization activities (consultancies, patents).



  • Principal Research Fellow, QIMR Berghofer
  • Group Leader, Statistical Genetics Laboratory, QIMR Berghofer
  • Honorary Professor, School of Medicine, University of Queensland



2014-2017: Senior Research Fellow (B), QIMR Berghofer

2012-2017: Team Head, Statistical Genetics Laboratory, QIMR Berghofer

2011-2020: Honorary Associate Professor, School of Medicine, University of Queensland

2009-2011: Adjunct Senior Lecturer, School of Medicine, University of Queensland

2009-2014: Senior Research Fellow (A), QIMR Berghofer

2006-2009: Senior Research Officer, QIMR Berghofer

2005-2006: Research Officer, QIMR Berghofer

2003-2005: Lecturer, Biostatistics and Bioinformatics Unit (affiliated with Department of Psychological Medicine), Cardiff University, Cardiff, UK









  • Professor MacGregor is a statistical geneticist, studying the role genetic variation plays in determining risk of disease and its risk factors. His Statistical Genetics laboratory develops and applies statistical genetic methods to gene mapping studies across a wide range of traits and diseases
  • one major focus is understanding genetic variation in various cancers. Cancers studied include skin cancers (including melanoma), ovarian cancer, breast cancer and oesophageal cancer. Another major interest is ophthalmological genetics, with work ongoing to identify the specific genes involved in both eye disease and in underlying quantitative risk factors
  • Professor MacGregor plays a leading role in consortium science, most recently in successful large scale gene mapping studies in melanoma and in eye disease. His work developing and applying statistical genetic methods has led to publications in top journals
  • Professor MacGregor has received numerous awards including the Australian Academy of Science human genetics medal



  • Professor MacGregor’s work to date has focused on development of statistical genetic methods and on their application to disease. In these areas he has published over 200 research articles since 2002, frequently in top journals, with many highly cited (64 papers cited >64 times)
  • developed VErsatile Gene-based Association (VEGAS) test for genome-wide association studies (GWAS). This ‘post GWAS’ method, implemented in web-based software (users in >25 countries), has been cited in the literature >700 times
  • over a series of high profile papers, helped identify >50 sequence variants (genes) which confer risk of melanoma. This work uncovered known (pigmentation, mole count) as well as novel biological pathways (DNA repair, telomere length) in melanoma susceptibility
  • over a series of high profile papers, helped identify dozens of sequence variants (genes) which confer risk of glaucoma. In parallel projects on intraocular pressure, optic nerve measures and corneal thickness, we identified over 100 key genes, advancing an understanding of how inherited genetic factors alter the healthy eye and lead to disease
  • showed that for most common cancers (ovarian, prostate, melanoma, pancreatic, endometrial, kidney, oesophageal) inherited genetic variation is important in determining risk but each individual gene effect is typically very small. In specific case of oesophageal cancer, further showed that the many genes of small effect conferring risk also confer risk of the pre-cancerous trait Barrett’s oesophagus
  • showed that obesity is likely to play a causal role in the development of cancer, with an especially large effect on some cancers such as oesophageal cancer. Showed that coffee consumption is unlikely to have a causal effect on a person’s cancer risk



  • American Society of Human Genetics




  • Australian National Health and Medical Research Council Research Excellence Awards
  • program grant received a Research Excellence Award as the top ranked Program grant submitted in 2017


  • Australian Academy of Science – Ruth Stephens Gani Medal (The Academy early career award recognising distinguished research in human genetics)
  • selected as one of Queensland’s ‘Best and brightest 2010’ by the newspaper The Courier Mail. The list, published annually, comprises 50 people from all aspects of life, ranging from Olympic medallists’ to business leaders


  •  winner, Queensland Premier’s Award for Medical Research (Senior Researcher Category), Australia
  • The Millennium Award – Lorne Genome Inc
  • selected as one of Queensland’s ‘Best and brightest 2009’ by the newspaper The Courier Mail


  • QIMR Berghofer Medical Research Institute Postdoctoral Research Prize
  • selected as one of Queensland’s ‘Best and brightest 200’ by the newspaper The Courier Mail


  • finalist, Queensland Premier’s Award for Medical Research (Postdoctoral Category), Australia


  • finalist, Queensland Premier’s Award for Medical Research (Postdoctoral Category), Australia


  • BBSRC/CASE (Organon Pharmaceuticals) Industry PhD scholarship, UK 


  • MSc scholarship, Institute of Cell, Animal and Population Biology, University of Edinburgh, UK



2004: PhD Statistical Genetics, University of Edinburgh, U.K. Advisors Peter Visscher, Douglas Blackwood, Sara Knott

2000: MSc Quantitative Genetics and Genome Analysis (with Distinction), University of Edinburgh, UK

1999: BSc (Hons) Mathematics and Statistics (Joint Honours), University of Edinburgh, UK