SM MacGregor

This PhD project at the QIMR Berghofer Medical Research Institute offers an exciting opportunity to advance the field of genetic risk prediction by focusing on disease progression rather than just disease onset. The research aims to develop and validate progression-specific polygenic risk scores (PRS) that are trained on longitudinal disease trajectories, with applications in eye diseases such as glaucoma and age-related macular degeneration (AMD), as well as colorectal cancer. Unlike traditional PRS studies that use cross-sectional designs, this project leverages repeated outcome measurements to isolate genetic signals that specifically drive disease progression. Key research questions include predicting the rate of visual field loss in glaucoma patients, identifying which AMD patients are at highest risk of advancing to severe disease, and determining which individuals with detected polyps are most likely to progress to colorectal cancer. The project is embedded within a multidisciplinary research group with expertise in genetics, epidemiology, ophthalmology, oncology, and biostatistics, providing a rich training environment and opportunities for international collaboration. The successful applicant will receive comprehensive training in statistical genetics and longitudinal analysis methods, contributing to the development of clinically relevant tools for personalized medicine. The Statistical Genetics laboratory at QIMR Berghofer is renowned for its work in gene mapping and translational research, particularly in ophthalmology and oncology. Applicants should hold a strong undergraduate or Masters degree in genetics, epidemiology, statistics, bioinformatics, or a related quantitative discipline. Essential attributes include enthusiasm for working with large-scale human genetic and clinical datasets. Experience with R or Python, familiarity with GWAS or epidemiological methods, and an interest in translational genomics are desirable. The position is based in Brisbane and offers a tax-free living stipend of $37,500 per annum (2026 rate, indexed) for three years, with a possible six-month extension. Single person overseas health cover is provided if required. The application deadline is April 21, 2026. For more information and to apply, visit the project page via the provided link.