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
Special Research Initiatives - Grant ID: SR0354908
Funder
Australian Research Council
Funding Amount
$10,000.00
Summary
The Insect-Plant Chemical Ecology Network (IPCEN). We bring together plant molecular biology, entomology and analytical chemistry to transform three leading fields of Australian research into an advanced science with far reaching capabilities in innovative research and applied outcomes. Expertise studying the biochemical pathways that produce specific plant compounds and expertise in insect recognition and response to these chemicals will be brought together. This will lead to new research outco ....The Insect-Plant Chemical Ecology Network (IPCEN). We bring together plant molecular biology, entomology and analytical chemistry to transform three leading fields of Australian research into an advanced science with far reaching capabilities in innovative research and applied outcomes. Expertise studying the biochemical pathways that produce specific plant compounds and expertise in insect recognition and response to these chemicals will be brought together. This will lead to new research outcomes and solutions to problems in agriculture, horticulture, forestry and protection of Australia's native flora. Researchers are struggling to create these links, constrained by disciplinary boundaries and geographical isolation. Key industries and researchers already support this proposal.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.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE210100028
Funder
Australian Research Council
Funding Amount
$3,000,000.00
Summary
Australian Membership of the International Ocean Discovery Program. This proposal is for an 18-month membership of the International Ocean Discovery Program (IODP), the world’s largest collaborative research program in Earth and Ocean sciences. The Program studies the history and current activity of the Earth by conducting seagoing coring expeditions and monitoring of instrumented boreholes, using globally unique infrastructure that Australians would otherwise have no access to. Program outcomes ....Australian Membership of the International Ocean Discovery Program. This proposal is for an 18-month membership of the International Ocean Discovery Program (IODP), the world’s largest collaborative research program in Earth and Ocean sciences. The Program studies the history and current activity of the Earth by conducting seagoing coring expeditions and monitoring of instrumented boreholes, using globally unique infrastructure that Australians would otherwise have no access to. Program outcomes include understanding past global environmental change on multiple time scales, the deep biosphere, plate tectonics, formation and distribution of resources, and generation of hazards. These outcomes are paramount to Australia’s national science and research priorities, and societal and economic prosperity.Read moreRead less