About
Associate Professor Puya Gharahkhani obtained his PhD in genetics from the University of Queensland in 2012 and joined QIMR Berghofer the following year. He is currently the head of the Genomics, Imaging, and AI Laboratory at QIMR Berghofer. He is the recipient of a prestigious National Health and Medical Research Council (NHMRC) Investigator Grant and two Medical Research Future Fund (MRFF) grants. Previously, he received multiple major grants, including two NHMRC grants and an international BrightFocus Foundation Grant. Since joining QIMR Berghofer, his research has focused on gene mapping for complex traits, with a particular emphasis on eye diseases and cancer. He is an internationally recognised leader in gene mapping of glaucoma and esophageal cancer, having led global collaborative consortia research aimed at advancing the understanding of genetic contributions to these diseases. Currently, his work incorporates innovative AI methodologies to enhance gene discovery and improve risk prediction for complex traits, including neurodegenerative diseases of the eye and brain.
Area of Interest
Associate Professor Puya Gharahkhani's research focuses on identifying disease genes for a wide range of complex traits, with a major emphasis on neurodegenerative diseases of the eye and brain, particularly glaucoma, macular degeneration, dementia, and Parkinson's disease. He applies statistical genetics and machine learning methodologies to advance gene discovery for these diseases and identify potential drug target genes for novel treatments. Additionally, his work aims to uncover disease-related features in eye and brain imaging data to develop advanced disease risk prediction models using innovative multimodal AI approaches. As one of the principal investigators of the Genetics of Glaucoma Study, one of the largest global studies of its kind, he is working to identify glaucoma risk genes and improve risk prediction models for this blinding disease.