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.
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
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.