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.
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
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE140100174
Funder
Australian Research Council
Funding Amount
$380,000.00
Summary
Development of a digital Transmission Electron Microscope Facility in Tasmania. Development of a digital transmission electron microscope facility: Transmission electron microscopy is a fundamental tool for the study of biological systems at the ultrastructural level. This project will establish a facility that will be accessible to a range of biological researchers, replacing aged and non-sustainable electron microscopy facilities. The instrument will revitalise cellular research and provide ad ....Development of a digital Transmission Electron Microscope Facility in Tasmania. Development of a digital transmission electron microscope facility: Transmission electron microscopy is a fundamental tool for the study of biological systems at the ultrastructural level. This project will establish a facility that will be accessible to a range of biological researchers, replacing aged and non-sustainable electron microscopy facilities. The instrument will revitalise cellular research and provide additional insights and outcomes related to the study of intracellular features in a diverse range of systems and models. This will add substantially to the knowledge base across a wide range of fields of research, increasing national contributions in the areas of neuroscience, separation science and marine science.Read moreRead less