Gene Identification For Keratoconus - A Blinding Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$912,880.00
Summary
Keratoconus is a common eye disease where the cornea at the front of the eye progressively becomes thinner and bulges out, resulting in severe visual impairment in young people. This project is investigating the genetic causes of keratoconus in a large collection of Australian patients. We aim to be better able to predict who will develop the disease and treat them earlier, as well as be able to target treatments to the causes of disease.
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.
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.