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
Genealogy and Topology: A Constellational Comparison of Nietzsche and Heidegger. This research is fundamental in character addressing basic questions about the nature and history of philosophy. It will have direct academic benefits in advancing disciplinary knowledge, in enhancing the reputation of Australian philosophy in Germany and internationally, and in promoting contact between Australian and German philosophers, but is also likely to have longer term benefits in furthering our understandi ....Genealogy and Topology: A Constellational Comparison of Nietzsche and Heidegger. This research is fundamental in character addressing basic questions about the nature and history of philosophy. It will have direct academic benefits in advancing disciplinary knowledge, in enhancing the reputation of Australian philosophy in Germany and internationally, and in promoting contact between Australian and German philosophers, but is also likely to have longer term benefits in furthering our understanding of the nature of concepts, and of conceptual creativity.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
Improved electrophoretic analyser for water quality monitoring. This proposal will advance the Australian made Eco Detection portable electrophoretic analyser for autonomous monitoring of water chemistry - the Eco Sensor. We will re-design and miniaturise the fluidic manifold to reduce capital- and per-sample cost, increase the sensitivity of nutrients - nitrate and phospate - by 100-times in both fresh- and sea-waters, and develop new ultra-sensitive reagents for heavy metal detection at enviro ....Improved electrophoretic analyser for water quality monitoring. This proposal will advance the Australian made Eco Detection portable electrophoretic analyser for autonomous monitoring of water chemistry - the Eco Sensor. We will re-design and miniaturise the fluidic manifold to reduce capital- and per-sample cost, increase the sensitivity of nutrients - nitrate and phospate - by 100-times in both fresh- and sea-waters, and develop new ultra-sensitive reagents for heavy metal detection at environmentally regulated levels. This will provide a single platform for at-site near-real-time monitoring of water chemistry for agricultural, mining, water corporations and other industries that use and/or discharge water to the environment. Read moreRead less
Threats to the water quality and ecosystem of Coffin Bay, South Australia. Coffin Bay (South Australia) is experiencing worsening environmental conditions despite its major economic and ecological importance. Research is needed to understand the cause of this decline, particularly in light of a recent bacterial outbreak that impacted the aquaculture industry. This multidisciplinary project aims to deliver world-leading scientific advice based on novel field techniques and innovative models of th ....Threats to the water quality and ecosystem of Coffin Bay, South Australia. Coffin Bay (South Australia) is experiencing worsening environmental conditions despite its major economic and ecological importance. Research is needed to understand the cause of this decline, particularly in light of a recent bacterial outbreak that impacted the aquaculture industry. This multidisciplinary project aims to deliver world-leading scientific advice based on novel field techniques and innovative models of this complex inverse estuary system and its surrounding catchment. The new understanding of the sources, fluxes and fate of nutrients within the bay and the surrounding catchment, arising from this project, is expected to benefit management decision-making and establish a new standard in estuarine water quality investigation.Read moreRead less
When caring ends: Understanding and supporting informal care trajectories. This project aims to advance understandings of how, why, when, and for whom caring ends, including the socio-cultural and relational factors that shape experiences before, during, and after caring. Using an innovative, multi-method sociological approach, and foregrounding carers’ voices, this project expects to generate new knowledge on the meaning and experience of care and caring. This project is significant in bringing ....When caring ends: Understanding and supporting informal care trajectories. This project aims to advance understandings of how, why, when, and for whom caring ends, including the socio-cultural and relational factors that shape experiences before, during, and after caring. Using an innovative, multi-method sociological approach, and foregrounding carers’ voices, this project expects to generate new knowledge on the meaning and experience of care and caring. This project is significant in bringing together leading researchers and key carer-focused organisations, spanning service sectors and moving across care relationships, life stages and contexts. Expected outcomes include enhanced service capacity with tangible policy and practice benefits that will enable sustainable and fulfilling informal caring experiences.Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE230100992
Funder
Australian Research Council
Funding Amount
$426,216.00
Summary
A novel epigenetic clock tool to conserve Australia’s threatened seabirds. The aim is to develop a novel epigenetic technique for the demographic assessment of long-lived seabirds, including albatrosses and petrels, for application to the conservation of 11 threatened species breeding across Australia. A major innovation will be an affordable and fieldwork-friendly technique to demographically fingerprint any population, ending the large amount of guesswork currently necessary in management. The ....A novel epigenetic clock tool to conserve Australia’s threatened seabirds. The aim is to develop a novel epigenetic technique for the demographic assessment of long-lived seabirds, including albatrosses and petrels, for application to the conservation of 11 threatened species breeding across Australia. A major innovation will be an affordable and fieldwork-friendly technique to demographically fingerprint any population, ending the large amount of guesswork currently necessary in management. The outcome is expected to enable (i) scientists and wildlife managers to impute the impact of threats and management activities on seabird populations, allowing quantitative scenario modelling, and (ii) stakeholders to analyse numerous threats and optimise management responses to these through research-based decision-making.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE130100203
Funder
Australian Research Council
Funding Amount
$385,000.00
Summary
Autonomous benthic observing system. This project seeks to improve our ability to monitor marine habitats and characterise their variability by enhancing the Integrated Marine Observing system (IMOS) Autonomous Underwater Vehicle (AUV) Facility. The new AUV infrastructure will reduce operating costs, increase robustness of the sampling effort and insure continued operation for the next decade.