Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
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.
Pathogenic Role Of Changes In The Extracellular Environment Of Retinal Ganglion Cells In Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$471,979.00
Summary
There are an estimated 60 million glaucoma sufferers worldwide. Glaucoma is associated with elevated pressure within the eye but the mechanisms by which this leads to vision loss are not clear. We propose to test a new hypothesis that it is tissue stress that is responsible for the ganglion cell death in glaucoma. We propose to measure key parameters of the cellular environment in an animal model of raised intraocular pressure and determine if elevated intraocular pressure induced changes in the ....There are an estimated 60 million glaucoma sufferers worldwide. Glaucoma is associated with elevated pressure within the eye but the mechanisms by which this leads to vision loss are not clear. We propose to test a new hypothesis that it is tissue stress that is responsible for the ganglion cell death in glaucoma. We propose to measure key parameters of the cellular environment in an animal model of raised intraocular pressure and determine if elevated intraocular pressure induced changes in the cellular environment can be identified.Read moreRead less
Non-invasive Retinal Vein Pulsation Pressure Measurement: A New Assessment Of Glaucoma Treatment.
Funder
National Health and Medical Research Council
Funding Amount
$557,666.00
Summary
Glaucoma is the second most common cause of blindness. It is a slowly degenerating disease and the level of treatment required is difficult to predict. At present there is no way of knowing whether the eye is receiving inadequate treatment. We have shown that retinal vein pulsation pressure measurements are an indicator of the likelihood of glaucoma progression. Our proposed studies hope to demonstrate for the first time that it is feasible to determine the appropriate treatment level for indivi ....Glaucoma is the second most common cause of blindness. It is a slowly degenerating disease and the level of treatment required is difficult to predict. At present there is no way of knowing whether the eye is receiving inadequate treatment. We have shown that retinal vein pulsation pressure measurements are an indicator of the likelihood of glaucoma progression. Our proposed studies hope to demonstrate for the first time that it is feasible to determine the appropriate treatment level for individual patients.Read moreRead less
Developing A New Glaucoma Surgery Using Precision Ablation Of The Trabecular Meshwork And Inner Wall Of Schlemm’s Canal
Funder
National Health and Medical Research Council
Funding Amount
$653,606.00
Summary
Glaucoma is a major sight threatening disease in our community, affecting an estimated 60 million people worldwide. This project investigates a new laser based method for reducing intraocular pressure, the major risk factor in glaucoma. The novel approach is to create a selectable number of drainage channels for excess fluid in the eye to drain away, thereby restoring normal intraocular pressure.
Targeting Neuroserpin-plasmin Interactions To Protect The Retina In Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$648,965.00
Summary
Glaucoma causes blindness and despite our best treatment many patients continue to progress. A new approach is needed to protect the cells that die in the retina. We have established that a common protease – plasmin – is involved in the process, and a protein that normally regulates it – neuroserpin – is downregulated in the disease. We aim to modify neuroserpin using an ocular gene therapy approach and show it could be used as a novel therapy in glaucoma.
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.
Saving The Optic Nerve : Manipulating The Shp2-Caveolin Axis
Funder
National Health and Medical Research Council
Funding Amount
$546,395.00
Summary
Glaucoma is a leading cause of blindness with many patients experiencing progressive vision loss despite treatment. We propose to use gene therapy techniques to manipulate the signalling pathway of Brain Derived Neurotrophic Factor and its receptor, along with biochemical and functional approaches to understand the mechanisms of glaucoma mediated eye damage and to develop new therapeutic strategies.