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.
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.
Using Pharmacogenetics To Personalize Treatment Outcome To Ranibizumab (Lucentis) For The Eye Disease Age-related Macular Degeneration (AMD)
Funder
National Health and Medical Research Council
Funding Amount
$623,891.00
Summary
The drug Lucentis has revolutionized the treatment of age-related macular degeneration, one of the commonest causes of severe vision loss in Australia. Unfortunately, up to 25% of patients continue to lose vision despite this treatment. We will use the latest gene chip technology to identify the genetic variant responsible for this poor response. Having this information will allow us to personalise treatment for the patient leading to improvement in their vision.
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.