Predicting eye disease risk using genetics

About QIMR Berghofer:

QIMR Berghofer is a world-leading translational medical research institute focused on improving health by developing new diagnostics, better treatments and prevention strategies, specifically in the areas of Cancer, Infection and Inflammation, Mental Health and Neuroscience, and Population Health. Based in Herston, Brisbane and working in close collaboration with clinicians and other research institutes, QIMR Berghofer is home to more than 600 scientists, students and non-research staff.

About The Statistical Genetics Laboratory:

The Statistical Genetics laboratory at QIMR Berghofer comprises staff and students working on statistical methods development and on applications to data.

The Statistical Genetics group develops and applies statistical methods to gene mapping studies across a wide range of traits and diseases. A major interest is ophthalmological genetics, with work ongoing to identify the specific genes involved in both eye disease and in underlying risk factors.

Project Description:

The successful applicant will undertake PhD level research studies. 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.

Aims:

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.

Approaches:

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.

About You:

Suited to someone with an undergraduate or Master’s degree in genetic epidemiology, epidemiology, statistics or bioinformatics. Experience in the analysis/ manipulation of large datasets and a good knowledge of computing is desirable. Experience in ophthalmic genetics advantageous but not essential. Nonstatistical applicants must be able to demonstrate some knowledge of statistics. For statistical applicants, some knowledge of genetics is desirable.

For further information:

For further information, contact Stuart MacGregor via e-mail Stuart.MacGregor@qimrberghofer.edu.au

Apply:

https://qimrberghofer.turborecruit.com.au/job/job_details.cfm?id=555889&from=

What we offer:

• Tax-free PhD scholarship
• State of the art facilities
• Stimulating work setting focussed on cutting edge medical research
• Supportive/collaborative team environment