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. Non-statistical applicants must be able to demonstrate some knowledge of statistics. For statistical applicants, some knowledge of genetics is desirable.
Project Description: 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. Although we have discovered many specific genes influencing glaucoma, we have also shown that most have still be to be found
Aims: To identify more loci explaining why some people get glaucoma and some do not. To translate genetic findings into improved screening and into better therapies. The project may also consider gene-mapping for other eye diseases.
Approaches: We already have custody of very large-scale genetic data sets (genome wide association studies, exome/genome sequencing), with further data collection underway. The student will employ a range of statistical genetic approaches to interrogate these data and to determine the genes and pathways underlying glaucoma. Statistical approaches for prediction will be investigated.