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
Epidemiologic and economic approaches to reduce the burden of depression and related chronic diseases in the workforce. Employers and governments alike are increasingly recognising that mental health impacts productivity, but many employers remain uninformed about the magnitude of the productivity consequences and what they can do about it. The ongoing individual and economic burden from depressive and anxiety disorders among working adults necessitates multi-disciplinary solutions. This series ....Epidemiologic and economic approaches to reduce the burden of depression and related chronic diseases in the workforce. Employers and governments alike are increasingly recognising that mental health impacts productivity, but many employers remain uninformed about the magnitude of the productivity consequences and what they can do about it. The ongoing individual and economic burden from depressive and anxiety disorders among working adults necessitates multi-disciplinary solutions. This series of studies will provide nationally and internationally significant new data to both inform understanding of the magnitude of the problem, and to provide cost-effective solutions to addressing it. Findings will directly inform workplace mental health promotion and prevention activities and be usable by employers, clinicians, and governments.Read moreRead less
The Courtroom, Lawyers and the Press: Negotiating Justice in the Age of the Public Sphere. The origins of modern Australian systems of justice are derived from institutions and cultures developed in Britain, and this project will contribute a deeper understanding of their nature and provenance. It will illuminate the roots of the modern trial as an instrument of governance that involves largely symbolic, rather than substantive, popular participation, and trace its equally significant role as a ....The Courtroom, Lawyers and the Press: Negotiating Justice in the Age of the Public Sphere. The origins of modern Australian systems of justice are derived from institutions and cultures developed in Britain, and this project will contribute a deeper understanding of their nature and provenance. It will illuminate the roots of the modern trial as an instrument of governance that involves largely symbolic, rather than substantive, popular participation, and trace its equally significant role as a form of popular entertainment. Besides their obvious relevance to questions about active citizenship in modern Australia, scholarly studies of these issues will contribute in a major way to Australia's international reputation for producing high-quality scholarly contributions to British studies.Read moreRead less
The global vaccination revolution: a transnational and comparative perspective. A study of first global immunization campaign will provide a historical dimension to contemporary concerns about pandemic disease, vaccination and bio-terrorism, and generate new insights into the factors determining the success and failure of public health initiatives. The project relates directly to national research priorities in health and safeguarding Australia. It has more specific relevance to Australia. Small ....The global vaccination revolution: a transnational and comparative perspective. A study of first global immunization campaign will provide a historical dimension to contemporary concerns about pandemic disease, vaccination and bio-terrorism, and generate new insights into the factors determining the success and failure of public health initiatives. The project relates directly to national research priorities in health and safeguarding Australia. It has more specific relevance to Australia. Smallpox decimated the Aboriginal population, and quarantine and vaccination have loomed large in Australian history. It builds on Australia's strong scholarship in the fields of virology and immunology and the history of disease and public health.Read moreRead less
The World Arm-to-Arm: The Spread of Smallpox Vaccination and Global Networks of Knowledge and Power, 1799-1805. This project will document the rapid spread of Jenner's vaccine around the world between 1799 and 1805. It will address matters neglected in the existing literature, including the logistics of the global transmission of the vaccine, often literally arm-to-arm; the promotion and reception of vaccination in different social and cultural contexts; and the networks of power and knowledge ....The World Arm-to-Arm: The Spread of Smallpox Vaccination and Global Networks of Knowledge and Power, 1799-1805. This project will document the rapid spread of Jenner's vaccine around the world between 1799 and 1805. It will address matters neglected in the existing literature, including the logistics of the global transmission of the vaccine, often literally arm-to-arm; the promotion and reception of vaccination in different social and cultural contexts; and the networks of power and knowledge that made the Jennerian revolution possible. The project will result in a book and articles, interventions in the literature on globalisation and the adoption of innovation, and a deeper and broader perspective on issues of burning relevance to the world today.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE210100009
Funder
Australian Research Council
Funding Amount
$620,000.00
Summary
Magnetometry Facility for Molecular and Nanoscale Materials. Advances in information and communications technology are critically dependent on increasing the capacity, speed and energy efficiency of logic and memory electronic devices. These improvements can be achieved by reducing component size to the nanoscale and using magnetic spin as well as charge. This Project aims to establish Australia's first integrated Magnetometry Facility for determining the magnetic properties of a range of nanosc ....Magnetometry Facility for Molecular and Nanoscale Materials. Advances in information and communications technology are critically dependent on increasing the capacity, speed and energy efficiency of logic and memory electronic devices. These improvements can be achieved by reducing component size to the nanoscale and using magnetic spin as well as charge. This Project aims to establish Australia's first integrated Magnetometry Facility for determining the magnetic properties of a range of nanoscale materials down to the level of individual nanomagnets. The Facility will provide crucial characterisation capabilities for Australian researchers, building capacity to develop new magnetic nanomaterials and devices for high-density data storage, quantum computing and spintronics.
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Micro-disperse sintered nano-diamonds: a new class of versatile adsorbent for high performance liquid chromatography. Nano-diamond is currently recognised amongst researchers as a highly significant material for the development of new technologies in analytical science, diagnostics and nano-technology. Here, sintered nano-diamond, with its many unique properties, will provide a new generation of stationary phases for use in high performance liquid chromatography.
Polymer nanoparticles and their assembled supracolloidal monolithic structures for applications in separation science. This project will generate new polymeric materials that will improve the analysis of complex samples. This will be applied in a wide range of areas of national importance including: pharmaceutical analysis and drug discovery; environmental, clinical and forensic analysis; and energy generation and foods.
Cistercian Nuns in England c.1150-1550AD: A Gendered History of a Monastic Institution. This project re-writes the history not just of the previously ignored medieval Cistercian nun but of the medieval Cistercian monastic institution more broadly. Using English Cistercian women as case studies, it will produce two major breakthroughs. First, it will demonstrate that the history of the Cistercian religious order looks very different when analysed with issues of gender to the fore. Second, it will ....Cistercian Nuns in England c.1150-1550AD: A Gendered History of a Monastic Institution. This project re-writes the history not just of the previously ignored medieval Cistercian nun but of the medieval Cistercian monastic institution more broadly. Using English Cistercian women as case studies, it will produce two major breakthroughs. First, it will demonstrate that the history of the Cistercian religious order looks very different when analysed with issues of gender to the fore. Second, it will reconfigure our understanding of this classic monastic institution according to the principles of centre-periphery relations. Both outcomes produce new strategies for creating histories of marginalised groups that are not premised on the histories of the dominant groups.Read moreRead less
Lags and legacies: antecedent effects on grassland biomass response to carbon dioxide. This project aims to assess how past conditions influence grassland responses to the rising atmospheric concentration of carbon dioxide. High CO2 concentrations should stimulate productivity but in grasslands this is rarely realised because other, mostly unknown, factors constrain the response. By synthesising data from past experiments, this project aims to determine exactly why grasslands fail to realise the ....Lags and legacies: antecedent effects on grassland biomass response to carbon dioxide. This project aims to assess how past conditions influence grassland responses to the rising atmospheric concentration of carbon dioxide. High CO2 concentrations should stimulate productivity but in grasslands this is rarely realised because other, mostly unknown, factors constrain the response. By synthesising data from past experiments, this project aims to determine exactly why grasslands fail to realise the full productivity benefits of increased CO2 and when this will happen. This should improve predictions of carbon exchange and indicating the best direction for climate change adaptation measures.Read moreRead less