Genomics, Imaging and AI

The Genomics, Imaging and AI Laboratory at QIMR Berghofer is part of the Population Health Program. With a primary focus on neurodegenerative disorders of the eye and brain, particularly glaucoma, macular degeneration, dementia, and Parkinson’s disease, the lab employs statistical genetics and machine learning methodologies to advance gene discovery and improve risk prediction for these diseases. The lab also boasts exciting collaborations with industry partners in both clinical and machine learning analytical domains.  


  • Gene discovery for neurodegenerative traits and diseases of the eye
  • Genetic risk prediction for eye diseases
  • Investigating the link between neurodegenerative eye diseases and brain disorders
  • Leveraging AI and imaging data for detection of disease-associated neurodegenerative features
  • Improving risk prediction for neurodegenerative eye and brain disorders through AI-driven analysis of imaging data
  • Application of statistical genetics and machine learning methodologies for gene mapping of a wide range of complex traits
  • Exploring causal and genetic relationships between complex traits


  • Santiago Diaz Torres
  • Asma Aman
  • Maryam Marzban
  • Han Han
  • Maciej Trzaskowski

Internal Collaborators

External Collaborators

  • Professor David Mackey, Lions Eye Institute
  • Professor Jamie Craig, Flinders University
  • Professor Alex Hewitt, University of Melbourne
  • Professor Janey Wiggs, Harvard Medical School
  • Professor Anthony Khawaja, University College London
  • Professor Louis Pasquale, Icahn School of Medicine at Mount Sinai
  • Professor Chris Hammond, King’s College London
  • Dr Pirro Hysi, King’s College London
  • Professor Rebecca Fitzgerald, University of Cambridge
  • Professor Ian Tomlinson, University of Oxford
  • Professor Paul Pharoah, University of Cambridge
  • National Health and Medical Research Council (NHMRC)
  • Medical Research Future Fund (MRFF)
  • BrightFocus Foundation