Our People

Puya Gharahkhani

Associate Professor | Team Head

Genomics, Imaging, and AI Lab

+61 7 3362 0219


Following completion of a PhD in genetics at University of Queensland, Puya Gharahkhani joined the Statistical Genetics Lab at QIMR Berghofer in 2013. His research includes application of statistical genetics methodologies to identify genetic variants contributing to the development of complex traits, and to understand the shared genetic basis and causal relationship between complex traits. He is currently the recipient of a National Health and Medical Research Council (NHMRC) Investigator Grant (2020-2024), awarded for his research into the genetics of glaucoma and its link with Alzheimer’s disease. He is also a Chief Investigator on two NHMRC grants, one to identify clinical and genetic risk factors predicting glaucoma progression (2018-2022), and the other to identify the modifiable risk factors that cause cancer (2017-2020).

Since he joined QIMR Berghofer, Puya has been working on two gene mapping projects, one in eye disease and the other in cancer. These works which include significant national and international collaborations have resulted in identification of new genetic risk variants for glaucoma and oesophageal cancer, and a greater understanding of the biological mechanisms involved in the development of these diseases. Puya has taken his gene mapping discoveries further to develop genetic risk prediction models that can identify people at increased genetic risk of glaucoma, which has the potential for risk prediction before the onset of the clinical signs. Further, his cancer research has identified several modifiable risk factors that cause cancer, which has important clinical implications for developing new prevention/intervention strategies or policies in the future.



  • Team Head, Genomics, Imaging, and AI Lab, QIMR Berghofer Medical Research Institute
  • Honorary position, Associate Professor at QUT



  • Senior Research Officer, Statistical Genetics Lab, QIMR Berghofer Medical Research Institute






  • Quantitative genetics of complex traits
  • Gene mapping studies
  • Genetics of eye diseases
  • Cancer genetics
  • Genetic risk prediction
  • Causal inference using Mendelian randomization



  • The world’s largest genetic studies for glaucoma to date that increased (>10 times) the number of known glaucoma risk genes (e.g. Nature Genetics 2014, 2018, and 2020)  
  • A large multi-ethnic genetic study for glaucoma that identified > 120 glaucoma risk genes shared across ancestries (Nature Communications 2020)
  • Development of a genetic risk prediction model to identify people at high risk of glaucoma (Nature Genetics 2018 and 2020)
  • The world’s largest gene mapping study for esophageal adenocarcinoma to date that doubled the number of known risk genes for this fatal cancer (Lancet Oncology 2016)
  • The first risk prediction model for esophageal adenocarcinoma based on combination of genetic and environmental risk factors (Gastroenterology, 2018)
  • Development of large genetic datasets for glaucoma and esophageal adenocarcinoma, as a result of the above studies
  • Identification of modifiable risk factors that cause cancer using Mendelian randomization studies (e.g. British Journal of Cancer 2019, International Journal of Cancer 2018)
  • One of the lead analysts of the world’s largest genetic consortia for glaucoma (IGGC) and oesophageal adenocarcinoma (BEACON)
  • Currently developing a glaucoma genetic study by recruiting >2000 glaucoma participants



  • QIMR Berghofer Postdoctoral Committee
  • International Glaucoma Genetics Consortium (IGGC)
  • Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON)
  • Consortium for Refractive Error and Myopia (CREAM)
  • American Society of Human Genetics (ASHG)
  • Australian Society for Medical Research (ASMR)



  • NHMRC Investigator Grant (2020-2024) to investigate the genetics of glaucoma and its link with Alzheimer’s disease
  • NHMRC project grant (2018-2022) to identify clinical and genetic risk factors predicting glaucoma progression
  • NHMRC project grant (2017-2020) to identify modifiable risk factors that cause cancer
  • QIMR Postdoctoral Award (2016)
  • Competitive conference travel award, Cancer Council QLD (2014)



  • PhD in Genetics, University of Queensland (2008 to 2012)
  • Doctor of Veterinary Medicine (1999 to 2005)