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.
Developing A Novel Glaucoma Surgery For Clinical Use And Commercialisation
Funder
National Health and Medical Research Council
Funding Amount
$565,893.00
Summary
Glaucoma is a potentially blinding eye condition that affects more than 60 million people. The greatest risk factor in glaucoma is high intraocular pressure. Surgical treatment for glaucoma seeks to lower the pressure inside the eye by increasing the drainage of fluid from the eye. There are numerous techniques available but all have risks of complications. This grant seeks to develop a novel approach to the problem using intra-ocular delivery of laser pulses to cut a drainage channel.
Optic Nerve Head Structure And Genetic/environmental Associations: A Population-based SD-OCT Study
Funder
National Health and Medical Research Council
Funding Amount
$320,891.00
Summary
My research project combines two powerful new technologies, spectral domain-optical coherence tomography and the genome-wide association study, to investigate the physical and genetic characteristics of the optic nerve head in humans. Results from this work will help identify new glaucoma risk genes, increasing sensitivity and specificity for predicting glaucoma and expand our understanding of the disease mechanism allowing for the development of new treatments.
Retinal Ganglion Cell Bioenergetics With Clinical Translation
Funder
National Health and Medical Research Council
Funding Amount
$725,913.00
Summary
Glaucoma is an eye disease where elevated pressure within the eye damages the sensitive nerve of sight at the back of the eye. The only current treatment is to lower the pressure in the eye with either drops, laser or surgery. Why the pressure damages the nerve of sight is unclear but there is evidence that it results in a reduced blood flow to the nerve. This starves the nerve of nutrients. We have developed a new treatment that supplies nutrients to the nerve and protects vision.
Boosting Mitochondria- A New Approach For Protecting The Aging Optic Nerve In Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$391,784.00
Summary
Increasing age is a major risk factor for neurodegeneration. We have recently shown that subjecting mice to intermittent periods of fasting improves mitochondrial function in the retina and reverses age-related decline in optic nerve vulnerability to injury. This project now aims to investigate key molecular pathway for restoring mitochondria and from this attempts to find more palatable therapeutic strategies for protecting the optic nerve from injury.
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.
Disease Registry Based Approaches To Determining Molecular Risk Factors For Glaucoma Blindness, And Applying Them In Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$406,355.00
Summary
The Practitioner-Fellow has drawn together very large cohorts of patients from Australia, New Zealand and now internationally who have lost vision from Glaucoma and complications of Diabetes to determine the contributing factors. He has successfully identified major clinical and genetic risk factors for these diseases, and is now applying the knowledge to patients in early stages of disease, so that earlier and more aggressive treatment high risk individuals can lead to improved outcomes.
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.