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
A novel regulator of growth signalling in Drosophila. This project aims to increase understanding of how growth is regulated by growth factor hormones. In animals, growth is controlled by signalling pathways that are activated by secreted peptide hormones. A new regulator of growth in the fruitfly Drosophila, the membrane attack complex/perforin-like (MACPF) protein Torso-like, has been identified. The project aims to unravel how Torso-like functions to regulate growth, thus throwing light on th ....A novel regulator of growth signalling in Drosophila. This project aims to increase understanding of how growth is regulated by growth factor hormones. In animals, growth is controlled by signalling pathways that are activated by secreted peptide hormones. A new regulator of growth in the fruitfly Drosophila, the membrane attack complex/perforin-like (MACPF) protein Torso-like, has been identified. The project aims to unravel how Torso-like functions to regulate growth, thus throwing light on the role this protein family may play in all animals. The findings are expected to provide key insights into the modification of growth factor activity, which is often dysregulated in human cancers and growth disorders, and may enable the design of new strategies for interfering with insect development for pest control.Read moreRead less
Lost at sea? Understanding adaptation and dispersal in spiny lobsters. Continual recruitment of young is fundamental to the replenishment of populations, especially when a stock is fished. Existing theory suggests that species with very long planktonic larval stages disperse widely, ensuring their genes are well mixed. However, recently identified genetic differences between populations of rock lobster challenge this paradigm and demonstrate that despite larvae mixing in the ocean for years, loc ....Lost at sea? Understanding adaptation and dispersal in spiny lobsters. Continual recruitment of young is fundamental to the replenishment of populations, especially when a stock is fished. Existing theory suggests that species with very long planktonic larval stages disperse widely, ensuring their genes are well mixed. However, recently identified genetic differences between populations of rock lobster challenge this paradigm and demonstrate that despite larvae mixing in the ocean for years, local recruitment and/or adaptation are at play. Recent developments in genomics and bioinformatics should allow this project to understand the ecological processes underpinning these genetic signatures and determine their evolutionary implications. Such findings could direct targeted rebuilding of depleted fisheries stocks.Read moreRead less
Cellular genomic approach to the pathogenesis of multiple sclerosis. This project compares the levels of gene usage in two important immune cell types between patients with multiple sclerosis and people who do not have the disease. It aims to identify the molecular basis for the disease, in order to identify new diagnostic, preventative and treatment options.
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.
Shifting the Culture of Out-of-field Professional Education for Teachers. This project aims to model an education system that would diversify the expertise of teachers as part of attending to long-term teacher shortage. It responds to a pressing national need for a system of valued and accessible professional education (PE) for out-of-field teachers. The project draws on perspectives from schools, governments and PE providers to expose current practices, cultural norms, and policies; propose an ....Shifting the Culture of Out-of-field Professional Education for Teachers. This project aims to model an education system that would diversify the expertise of teachers as part of attending to long-term teacher shortage. It responds to a pressing national need for a system of valued and accessible professional education (PE) for out-of-field teachers. The project draws on perspectives from schools, governments and PE providers to expose current practices, cultural norms, and policies; propose an 'ideal' PE ecosystem that values re-specialisation in the core subjects; and develop principles to inform policy and practice needed to attain this ideal. The evidence-based framing of PE will inform efforts by schools, PE providers and policy makers to sustain a highly capable, adaptive and specialised teaching workforce.Read moreRead less
Improving regional secondary students' learning and well-being. Given the academic under-performance and lower life opportunities of Australian regional and rural students compared to their metropolitan counterparts, this research has the potential to make a significant social, cultural and economic contribution to the community. This research will be useful in developing an evidence-based framework to guide policy and practice in implementing an effective systematic approach to regional educati ....Improving regional secondary students' learning and well-being. Given the academic under-performance and lower life opportunities of Australian regional and rural students compared to their metropolitan counterparts, this research has the potential to make a significant social, cultural and economic contribution to the community. This research will be useful in developing an evidence-based framework to guide policy and practice in implementing an effective systematic approach to regional education and, where appropriate, other contexts. The research's economic benefit centres on gains for individuals, local communities, and the nation in enhancing regional students' academic achievements, sense of well-being and aspirations; leading to more productive citizens.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
Function and evolution of insect odorant receptors. This project aims to shed light on how insect odorant receptors function by using comparative genomic studies between the genetic model insect Drosophila melanogaster and a pest species, the Australian sheep blowfly. This project expects to generate knowledge of how specific chemicals activate specific receptors in order to excite sensory neurons and drive behaviour, which is not well understood. Expected outcomes include increased understandin ....Function and evolution of insect odorant receptors. This project aims to shed light on how insect odorant receptors function by using comparative genomic studies between the genetic model insect Drosophila melanogaster and a pest species, the Australian sheep blowfly. This project expects to generate knowledge of how specific chemicals activate specific receptors in order to excite sensory neurons and drive behaviour, which is not well understood. Expected outcomes include increased understanding of olfaction in insects, increased national and international collaboration, and outstanding graduate student training. This research will be of significant future benefit in deriving methods to modify the behaviour of insects of agricultural or medical importance, for example the sheep blowfly. Read moreRead less