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
Stem Cell Bioinformatics For Eye Research: Mapping An Integrative Network Model Of Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$335,292.00
Summary
Biology has become data-driven, with a huge amount of data available but not enough researchers with bioinformatics skills to analyse it. By studying genetic architecture of eye cells generated from induced pluripotent stem cells of individuals with and without glaucoma, I aim to contribute to a better understanding of the underlying causes of glaucoma and equip myself with new bioinformatics skills to utilise in future eye research in Australia.
This project will develop a technique for detecting blind spots in the human field of vision by using virtual reality goggles to present a stimulus to the eye and then recording the tiny electrical signals from the brain that are generated in response to this. It will overcome many of the limitations of current subjective visual field testing and expand the potential market for the objective perimeter that we have developed. By recording from both eyes simultaneously it will halve the recording ....This project will develop a technique for detecting blind spots in the human field of vision by using virtual reality goggles to present a stimulus to the eye and then recording the tiny electrical signals from the brain that are generated in response to this. It will overcome many of the limitations of current subjective visual field testing and expand the potential market for the objective perimeter that we have developed. By recording from both eyes simultaneously it will halve the recording time and improve the ability to do inter-eye comparisons to look for early signs of glaucoma.Read moreRead less
Effect Of Aging And Mitochondrial Dysfunction On The Optic Nerve Response To Pressure-induced Oxidative Stress
Funder
National Health and Medical Research Council
Funding Amount
$415,554.00
Summary
The risk of glaucoma, a potentially blinding disease of the optic nerve, increases exponentially with age, but the cellular mechanisms responsible are not known. We hypothesise that age-related changes in mitochondria, the energy producing part of the cell, render nerve cells prone to damage. This project will determine whether aging and mitochondrial impairment increase nerve damage and whether dietary moodifications that preserve mitochondria during aging, protect the optic nerve from damage
A ROBOTIC MICRO DRAINAGE SURGERY FOR GLAUCOMA (A BIOLOGICAL MICROFISTULA AND IMPLANTATION METHOD AND APPARATUS)
Funder
National Health and Medical Research Council
Funding Amount
$441,020.00
Summary
Glaucoma is a major cause of blindness in our community. We are developing a new surgical procedure to treat glaucoma. The technique is based on the implantation of a tiny drainage tube inside the eye. This allows the eye's natural fluid to escape at the required rate. Insufficient drainage, or over production of fluid in the eye's of glaucoma patients is responsible for the high pressures inside the eye that characterise this disease. A simple, safe, and reliable surgical procedure to lower int ....Glaucoma is a major cause of blindness in our community. We are developing a new surgical procedure to treat glaucoma. The technique is based on the implantation of a tiny drainage tube inside the eye. This allows the eye's natural fluid to escape at the required rate. Insufficient drainage, or over production of fluid in the eye's of glaucoma patients is responsible for the high pressures inside the eye that characterise this disease. A simple, safe, and reliable surgical procedure to lower intraocular pressure would be a major benefit to the almost 67 million glaucoma patients worldwide, and would relieve the current need for lifelong medication.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.