Eye disease genetics

This project is suitable for Honours, Masters, MPhil, MD or PhD student.

BACKGROUND

Glaucoma is the leading cause of irreversible blindness worldwide. While there is no cure once visual loss occurs, progressive visual loss and blindness can usually be prevented by timely treatment. This means early detection is vital. Unlike many other common complex diseases, the heritability of glaucoma is very high (70%) and traditional epidemiology studies have not identified any means by which risk can be decreased (e.g. via modifiable risk factors). The major role of genetic factors in glaucoma make understanding the molecular mechanisms fundamental to improve screening and develop better therapies. We have developed genetics-based risk prediction tools for glaucoma, and are now exploring how to implement these to prevent blindness.

AIM

To apply risk prediction tools for glaucoma based on genetic data. To translate these genetic findings into improved screening for the disease. To integrate genetics-based prediction approaches with methods harnessing artificial intelligence. The project may also consider gene-mapping and prediction analysis for other eye diseases such as myopia, age-related macular degeneration and dry eye.

APPROACH

The QIMR Berghofer Genetics of Glaucoma Study is one of the largest studies of its kind internationally, with large scale genetic data recently collected on thousands of Australians. This will be supplemented with very large-scale genetic data sets (genome wide association studies, exome/genome sequencing, proteomics) which are available in the lab. The student will employ a range of statistical genetic approaches to interrogate these data and to determine the genes and pathways underlying glaucoma and use these in prediction models.