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
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.
Translating Genetic Determinants Of Glaucoma Into Better Diagnosis And Treatment
Funder
National Health and Medical Research Council
Funding Amount
$9,466,000.00
Summary
Glaucoma is the leading cause of irreversible blindness worldwide. By 2020, it will affect 80 million people, and in Australia over the next decade, the overall cost of glaucoma will reach $4.3 billion per annum. This Program will use genetic advances to personalise treatment. Blindness will be prevented in individuals at highest risk, new ways to treat patients will be developed, and better outcomes for patients will result from less treatment and monitoring of low risk cases.
A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Identifying Glaucoma Risk Variants In The Norfolk Island Genetic Isolate
Funder
National Health and Medical Research Council
Funding Amount
$658,447.00
Summary
Primary open angle glaucoma is the most common form of glaucoma. In this project we will focus on the identification of functional genetic variants influencing development of this disorder, using a powerful whole exome sequencing approach in a large multigenerational pedigree from the Norfolk Island population isolate. The identification of genes influencing glaucoma development would provide invaluable clues to aid in defining the pathophysiology of this common disease.
Oxidative Phosphorylation Regulation And Neuroprotection In Optic Neuropathies
Funder
National Health and Medical Research Council
Funding Amount
$430,231.00
Summary
We have shown clear differences in the mitochodria, cellular organelles that generate energy, between optic atrophy patients who have good vision and those of patients who have poor vision. We believe that these changes represent a compensation mechanisms that preserves mitochondrial energy production and protects optic nerve cells. This study will characterize these differences further with the aim of identfying new treatments for preventing nerve loss and preserving vision.
The Impact of the Kids' Science State Initiative on Scientific Literacy in the Western Australian Community. This research will investigate how participation in the Kids' Science State initiative in Western Australia (a partnership between Scitech Discovery Centre in Perth and the Rio Tinto WA Future Fund) impacts on children, teachers, parents and other community members in terms of promoting scientific literacy. Working in the Pilbara and Albany regions and the metropolitan area, the research ....The Impact of the Kids' Science State Initiative on Scientific Literacy in the Western Australian Community. This research will investigate how participation in the Kids' Science State initiative in Western Australia (a partnership between Scitech Discovery Centre in Perth and the Rio Tinto WA Future Fund) impacts on children, teachers, parents and other community members in terms of promoting scientific literacy. Working in the Pilbara and Albany regions and the metropolitan area, the research will determine the most effective ways to deliver educational resources that promote primary teachers? confidence and willingness to teach science and engage the community in science-related activities. The outcomes will represent a substantial investment in human capital.Read moreRead less
Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
ARC Centre of Excellence - In Plant Energy Biology (CPEB). Plant cell metabolism underlies the synthesis of important products in crops, and subtle changes in metabolism can enhance germination rates, early seedling vigour, biomass/yield, and tolerance to harsh environments. Research in CPEB will focus on control of this metabolism. Its expertise will enhance Australia's participation in major international research efforts directly relevant to sustainable agriculture in a country with fragile/ ....ARC Centre of Excellence - In Plant Energy Biology (CPEB). Plant cell metabolism underlies the synthesis of important products in crops, and subtle changes in metabolism can enhance germination rates, early seedling vigour, biomass/yield, and tolerance to harsh environments. Research in CPEB will focus on control of this metabolism. Its expertise will enhance Australia's participation in major international research efforts directly relevant to sustainable agriculture in a country with fragile/degrading ecosystems. The research will provide new approaches for enhancing quality metabolite traits important for human health. It will further strengthen our international leadership in plant energy science, and will strengthen Australia's research training in systems biology to influence plant function.Read moreRead less
The feasibility, acceptability and cost-effectiveness of nurse-led models of chronic disease management in general practice. This study directly relates to the National Research Priority of 'promoting and maintaining good health' through our approach to trial a new and innovative model of chronic disease management specifically for CVD and Type II diabetes in general practice. This project aims to test a new model of health service delivery - that is, the use of a practice nurse to provide chro ....The feasibility, acceptability and cost-effectiveness of nurse-led models of chronic disease management in general practice. This study directly relates to the National Research Priority of 'promoting and maintaining good health' through our approach to trial a new and innovative model of chronic disease management specifically for CVD and Type II diabetes in general practice. This project aims to test a new model of health service delivery - that is, the use of a practice nurse to provide chronic disease care rather than a general practitioner. Our strategy involves collaboration with health providers, stakeholders and consumers to help achieve this by providing patient education and disease management through a registered nurse in general practice.Read moreRead less