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.
Senior Research Officer, QIMR Berghofer Medical Research Institute