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.
Safety And Efficacy Of A Surgically Implanted Suprachoroidal Retinal Prosthesis (Bionic Eye)
Funder
National Health and Medical Research Council
Funding Amount
$1,233,826.00
Summary
A bionic eye is a electronic device which can stimulate the remaining visual pathway in a person who is blind, to restore some basic vision. Our team have previously shown that our novel bionic eye device can be safely implanted in a patient, and can give improvements in vision when tested in a laboratory environment. The next stage of the research is to provide patients with a more advanced device, which will contain more electrodes and also be able to be taken home.
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.
Dissecting The Great Ophthalmic Masquerade: The Global Giant Cell Arteritis Genomics Consortium.
Funder
National Health and Medical Research Council
Funding Amount
$583,269.00
Summary
Giant cell arteritis (GCA) is the most common form of vasculitis in people over 50 years of age. If untreated it can cause catastrophic complications including blindness, though this can be prevented if treated early. Although there is clear evidence for a role of genetic factors in GCA, these have been little studied. We have established an Australian-led International consortium, with clinical, basic science and statistical expertise to thoroughly investigate this devastating disease.
Novel Functional Imaging For Age-related Macular Degeneration
Funder
National Health and Medical Research Council
Funding Amount
$564,848.00
Summary
Age-related macular degeneration (AMD) is an eye condition which affects the central retina (the macula) resulting in a loss of central vision. The lack of appropriate clinical tests to monitor the progression of AMD at the early stages of disease hampers the discovery of novel interventions aimed at preventing the development of advanced vision-threatening AMD. In this project, we will investigate the use of a quick and non-invasive imaging technique for monitoring AMD progression.
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.
Improving Visual Outcomes In Patients With Diabetic Macular Oedema Undergoing Cataract Surgery: A Prospective Randomised Clinical Trial (the DiMECat Trial)
Funder
National Health and Medical Research Council
Funding Amount
$187,322.00
Summary
Cataract and diabetic retinopathy are the leading causes of visual loss in patients with diabetes, but unfortunately, cataract surgery in these patients often results in a loss of vision, rather than an improvement. The purpose of this study is to improve the visual outcomes in this group of patients, through the use of new, injected medicines that are given at the time of cataract surgery, thereby potentially changing current medical practice.
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.
The vision we rely on every day to read and recognise faces depends upon the health of the central portion of our retina, the macula. Age-related Macular Degeneration (AMD) is the leading cause of blindness in Australia and the western world. Researchers at the Australian National University are collaborating to bring a new test for AMD severity to the market within 3 years. The objective is to provide doctors with a rapid, cost-effective tool to help them manage treatment.