Investigation of common genetic risk factors in glaucoma

Jamie Craig, PhD
Flinders University of South Australia (Adelaide, Australia)
Year Awarded:
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April 1, 2008 to March 31, 2010
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Recipient of the Thomas R. Lee Award for glaucoma research

Genome Wide Association studies in Glaucoma using equimolar DNA pooling


This research will identify common genetic markers that lead to glaucoma. The scientists will compare people with and without glaucoma to determine common gene variations and identify multiple genetic risk factors. They will prioritize genomic regions important in glaucoma. Understanding genetic factors for glaucoma could lead to earlier and better treatment for those at high risk and reduce the need for treatment for those at lower risk.


This research will identify common genetic markers which lead to glaucoma. We will use well-characterized groups of people with and without glaucoma, and carefully compare common variation in genes in these populations. Powerful technique of high density gene screening to identify multiple genetic risk factors for glaucoma will be employed. A novel genomic methodology, the construction of DNA pools, will be utilized in order to prioritize genomic regions important in glaucoma and complete a very large-scale project with excellent value for the requested budget. The significance to people with glaucoma is that the level of risk of an unaffected individual developing glaucoma is currently not able to be determined. A definitive diagnosis of glaucoma may be difficult to make in the early stages of disease. Patients also still are often diagnosed after major irreversible damage has already occurred. Glaucoma treatment currently balances the benefits of slowing disease progression against the risks of treatment. It would therefore be highly useful to understand genetic associations of glaucoma so earlier and better treatment could be directed to those individuals at high risk, while freeing other lower risk individuals of the need for treatment.
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