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
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
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE170100219
Funder
Australian Research Council
Funding Amount
$170,000.00
Summary
A multi-institutional environmental radioactivity research centre. This project aims to establish an environmental radioactivity research centre, equipped with ultra-low background and high-resolution alpha and gamma spectrometry systems, radon detectors and radium delayed coincidence counters. The centre will address a critical demand in Australia for precise analysis of a large suite of natural and artificial radionuclides, which will be used as tracers and chronological tools to investigate k ....A multi-institutional environmental radioactivity research centre. This project aims to establish an environmental radioactivity research centre, equipped with ultra-low background and high-resolution alpha and gamma spectrometry systems, radon detectors and radium delayed coincidence counters. The centre will address a critical demand in Australia for precise analysis of a large suite of natural and artificial radionuclides, which will be used as tracers and chronological tools to investigate key questions in oceanography and the mining and energy, archaeological, agricultural, and forestry sectors. The facility is expected to substantially increase expertise and training in radionuclides in Australia, and promote high-level research collaborations and outputs of both national and international significance. Major outcomes of the proposed facility include better understanding of how oceans regulate climate and improved capacity to assess effects of radiation on natural ecosystems.Read moreRead less
Defining winning strategies in a changing Southern Ocean . The ecosystem of the Southern Ocean is extremely complex, and understanding its response to rapid climate change is challenging. The aim of the project is to use changes in the behaviour of marine predators to provide new measures of integrated changes in eastern Antarctic ecosystems throughout the winter. With novel combinations of electronic tagging, natural biogeochemical markers, and simulation modelling, the project expects to recon ....Defining winning strategies in a changing Southern Ocean . The ecosystem of the Southern Ocean is extremely complex, and understanding its response to rapid climate change is challenging. The aim of the project is to use changes in the behaviour of marine predators to provide new measures of integrated changes in eastern Antarctic ecosystems throughout the winter. With novel combinations of electronic tagging, natural biogeochemical markers, and simulation modelling, the project expects to reconstruct changes in animal behaviour in response to changes in the environment. The data is anticipated to explain ongoing large-scale shifts in Southern Ocean ecosystems, providing information needed to underpin future management and adaptation strategies.Read moreRead less
Putting death in its place. The project aims to link 890,000 population records to place of residence from 1838 to 1930, to examine the relationships between where people live, mortality, life expectancy and health. Where people live impacts their life-course outcomes. Using novel matching techniques, the project expects to identify intergenerational changes and the spatial dynamics of inequality and social mobility. Expected outcomes include the creation of a public resource of linked data and ....Putting death in its place. The project aims to link 890,000 population records to place of residence from 1838 to 1930, to examine the relationships between where people live, mortality, life expectancy and health. Where people live impacts their life-course outcomes. Using novel matching techniques, the project expects to identify intergenerational changes and the spatial dynamics of inequality and social mobility. Expected outcomes include the creation of a public resource of linked data and a better understanding of long-run health and inequality. These should provide economic and social benefits by informing policy aimed at contemporary social and health challenges, enhancing our understanding of Australian history, and developing public resources.Read moreRead less
The republic of the demiurge: textual community and the commentary tradition in late antique Platonism. This project will add to our understanding of the content and purpose of philosophy within 'higher education' in the eastern Roman Empire in the period 300-500 CE. Since there are many ways in which the late Empire resembles our own time, this understanding illuminates the place of philosophy in what we call higher education.
ARC Centre of Excellence for the Weather of the 21st Century. ARC Centre of Excellence for the Weather of the 21st Century. This Centre aims to determine how Australia’s weather is being reshaped by climate change. Through a fusion of innovative analyses of observations and fundamental science advances, alongside the development of ultra-high resolution climate models, the Centre looks to address climate science’s grand challenge in anticipating the likely weather patterns of a warmer world. The ....ARC Centre of Excellence for the Weather of the 21st Century. ARC Centre of Excellence for the Weather of the 21st Century. This Centre aims to determine how Australia’s weather is being reshaped by climate change. Through a fusion of innovative analyses of observations and fundamental science advances, alongside the development of ultra-high resolution climate models, the Centre looks to address climate science’s grand challenge in anticipating the likely weather patterns of a warmer world. The Centre strives to transform climate research by focussing on what matters most to making critical adaptation and mitigation decisions – weather change. The Centre aspires to provide Australia with the knowledge, technology, and human capital for robust evidence-based decision-making in response to future weather changes in our region and to harness weather as a resource.Read moreRead less