High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
Genome-wide Association Studies To Identify Major Genetic Determinants Of 5 Blinding Eye Diseases Using Pooled DNA
Funder
National Health and Medical Research Council
Funding Amount
$562,193.00
Summary
This project aims to find important genes for 5 diseases that can lead to blindness. We will use a cost-effective approach where samples from a large number of individuals with a given disorder are pooled (mixed together) and then compared on gene chips covering the whole genome to a pool of people who do not have the disease. Differences identified between the groups will point to genes causing that disease. We will identify any major genes for the 5 diseases being studied.
Translation Of Glaucoma Blindness Genes To Improve Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$856,795.00
Summary
Glaucoma is a common cause of irreversible blindness. It is currently difficult to predict which patients with the earliest signs of glaucoma will develop blinding stages of the disease. This study will investigate how genes and eye measurements can be used to predict the risk of developing severe glaucoma in people with early signs of disease. This will ensure that high risk individuals can access treatment early, while those at low risk can be spared unnecessary treatment and seen less often.
Gene Tests For Predicting Risk Of Developing Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$956,020.00
Summary
Glaucoma is a common cause of blindness. It is currently difficult to predict which patients with the earliest signs of glaucoma will go on to develop the blinding stages of the disease. This study will investigate how genes and othe eye measurements can be used to predict risk of developing glaucoma in people with early signs of disease.
Targeting The De Novo Serine Synthesis Pathway In Macular Disease
Funder
National Health and Medical Research Council
Funding Amount
$628,084.00
Summary
We have found a significant difference in de novo serine metabolism between the human primary Müller cells isolated from macular and peripheral retinas. We will study whether and how this difference contributes to redox homeostasis in these areas. The outcomes will help us to gain a better understanding of why the macula is more prone to develop disease than the peripheral retina.
The Role Of EphA2 Signalling And Environmental Modifiers In Cataract.
Funder
National Health and Medical Research Council
Funding Amount
$591,547.00
Summary
In cataract the clear lens in the eye becomes opaque causing blindness. Cataract is very common in the elderly, but is rarely also seen in babies and children. In babies certain gene defects, and in the elderly the genes and environmental factors contribute to cataract. The EPHA2 gene causes cataract in both young and old people. This project aims to understand how EPHA2 and other related genes cause cataract in young and old people, to prevent, delay or improve its treatment in the future.