A Genome-wide Association Scan To Identify Genetic Risk Factors For Sight Threatening Diabetic Retinopathy
Funder
National Health and Medical Research Council
Funding Amount
$982,203.00
Summary
Diabetic eye disease is an important complication of diabetes that can lead to blindness. Very little is known about how diabetes causes eye disease, but genetics is known to play a role. We aim to identify genes that contribute to eye disease in diabetes patients. We will compare genes between patients with diabetes with and without severe diabetic eye disease using cutting edge genomic technology. We hope to be able to better predict risk of blindness and to move towards novel treatments.
Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.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/NHMRC Research Network for Parasitology. The ARC Network for Parasitology will focus and coordinate Australia's world class fundamental, strategic and applied parasitology research. This targeted approach will raise Australia's standing in the field, assist in the community's understanding of parasitology and biosecurity and maintain and improve Australia's capacity for keeping its stock, crops, wildlife and people disease-free. On an international scale, the Network will work with other cou ....ARC/NHMRC Research Network for Parasitology. The ARC Network for Parasitology will focus and coordinate Australia's world class fundamental, strategic and applied parasitology research. This targeted approach will raise Australia's standing in the field, assist in the community's understanding of parasitology and biosecurity and maintain and improve Australia's capacity for keeping its stock, crops, wildlife and people disease-free. On an international scale, the Network will work with other countries to develop new technologies for the detection and eradication of parasites. This emphasis will not only protect Australia's borders but will assist our near neighbours and lead to the development of technologies with an economic benefit to Australia.
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Assessment of bentonites as remediating agents for metal contaminated soils using innovative bioavailability reduction technology. The project seeks to carry out research on innovative, economically sustainable risk-based solutions (soil amendments) for metal-contaminated soils and methods for assessing the potential risk/bioavailability of soil bound metals. The work will determine factors affecting the reactivity, mobility and bioavailability of metals in Australian soils and clays and method ....Assessment of bentonites as remediating agents for metal contaminated soils using innovative bioavailability reduction technology. The project seeks to carry out research on innovative, economically sustainable risk-based solutions (soil amendments) for metal-contaminated soils and methods for assessing the potential risk/bioavailability of soil bound metals. The work will determine factors affecting the reactivity, mobility and bioavailability of metals in Australian soils and clays and methods by which these can be controlled. Remediation options, such as natural clay amendments to reduce metal bioavailability, will be assessed against in vivo and in vitro bioavailability assays in order to develop cost effective, risk-based remediation strategies and assessment protocols for urban and rural contaminated soils.Read moreRead less