Functional Analysis Of Recently Identified Novel Glaucoma Genes.
Funder
National Health and Medical Research Council
Funding Amount
$519,918.00
Summary
Glaucoma is the commonest cause of irreversible blindness in the world. Recently, through genetic studies in cohorts of blinding glaucoma cases from Australia, our group has found that variants in two genes increase the risk of blinding glaucoma. This project will investigate how these genes contribute to pathological changes in the optic nerve and retina, at the back of the eye, that lead to glaucoma. This knowledge will be useful for developing new strategies to treat glaucoma.
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.
Modelling Leber’s Hereditary Optic Neuropathy Using Human Induced Pluripotent Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$628,416.00
Summary
Leber’s Hereditary Optic Neuropathy (LHON) is a blinding disease that affects young males and is caused by the death of cells in the optic nerve. To better understand LHON, this project utilises induced pluripotent stem (iPS) cells for disease modelling. iPS cells will be generated from patients and turned into optic nerve cells, allowing us to study the diseased cells in the laboratory, providing a platform to screen for novel drugs to improve treatment options and fast-track drug development.
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.
A System For Measurement Of Vision-specific Quality Of Life Using Item Banking And Computer Adaptive Testing (ViSBank)
Funder
National Health and Medical Research Council
Funding Amount
$831,155.00
Summary
When evaluating medical treatments, it is important to consider all effects from the patient’s perspective; their quality of life. This project utilises new technology to develop an adaptable, computerised, internet-based system to measure the effects of eye diseases and their treatments on patients’ quality of life. This system will provide for more accurate, precise and efficient measurement than existing methods.
Interplay Of Genetic And Environmental Factors On Age-related Cataract Development
Funder
National Health and Medical Research Council
Funding Amount
$217,519.00
Summary
We aim to investigate factors influencing the development of age-related cataract, using data collected from two population-based studies of older persons: the Blue Mountains Eye Study and the Beaver Dam Eye Study (USA). We will assess genetic susceptibility to the two common forms of age-related cataract, replicated in two Asian samples, and determine how genetic and environmental factors jointly contribute to the development of cataract in some older persons.
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.
Regulation Of ICAM-1 Expression In Human Retinal Endothelial Cells
Funder
National Health and Medical Research Council
Funding Amount
$565,967.00
Summary
Posterior uveitis is an inflammation that occurs within the eye and may result in blindness. Present treatments are not directed specifically at the inflamed tissues, and they may be ineffective and cause toxicity. This research aims to identify molecules controlling the entry into the eye from the bloodstream of the white blood cells that cause the disease. The results should suggest new targets for safer drugs to treat patients with posterior uveitis.
The Role Of Reduced Phagocytosis In The Pathogenesis Of Age-related Macular Degeneration
Funder
National Health and Medical Research Council
Funding Amount
$786,742.00
Summary
Understanding the underlying mechanisms which lead to age-related macular degeneration (AMD) is critical if we are to ultimately develop novel treatments. We hypothesise that there is a defective ability to remove debris that accumulates in the retina as we age and this is a crucial step in the development of AMD. We will investigate this hypothesis in an AMD cohort and in a pre-clinical model where we will test the efficacy of an intervention that improves the ability to clear debris.
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.