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Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from af ....Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from affected individuals we will then be in a position to look for mutations in other family members and identify those individuals at risk of developing disease. Improvements in our understanding of how these genes are involved in disease causation will allow us to offer diagnostic testing to the wider community and develop better therapeutic interventions for treatment.Read moreRead less
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.
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.
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.