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
Critical windows: understanding changes in eating and physical activity over the transition from secondary school to young adulthood. This project will explain changes in eating, physical activity and sedentary behaviour during the critical period of transition from secondary school to young adulthood. It will provide important information on how we can assist adolescents to maintain a healthy lifestyle over a time characterised by several major life changes.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE140100129
Funder
Australian Research Council
Funding Amount
$249,000.00
Summary
Microflow ultra high pressure liquid chromatography - high resolution mass spectrometry for chemical exposure monitoring. Microflow ultra high pressure liquid chromatography – high resolution mass spectrometry for chemical exposure monitoring: Identifying new chemicals of interest in environmental or biological samples is the first critical step toward understanding their impact to human and environment. A state-of-the-art microflow ultra high performance liquid chromatography high resolution ma ....Microflow ultra high pressure liquid chromatography - high resolution mass spectrometry for chemical exposure monitoring. Microflow ultra high pressure liquid chromatography – high resolution mass spectrometry for chemical exposure monitoring: Identifying new chemicals of interest in environmental or biological samples is the first critical step toward understanding their impact to human and environment. A state-of-the-art microflow ultra high performance liquid chromatography high resolution mass spectrometer is fundamental to extend our research capabilities to new environmental contaminants and environmental exposure biomarkers, as well as consumption biomarkers of new illicit drugs and their metabolites. This instrument will fill an important gap in our capacity to link health/ecological risk to unknown chemicals and will allow interdisciplinary researchers to advance work in environmental toxicology, chemistry and forensics.Read moreRead less
Estimating per capita use and release of chemicals by wastewater analysis. This project aims to systematically collect and analyse wastewater to assess human exposure to chemicals including drugs, pharmaceuticals, lifestyle chemicals and environmental pollutants. By combining temporal sampling from key sewage treatment plants with comprehensive nationwide sampling over the week of the 2016 census day, the project expects to estimate the per-capita human exposure to chemicals in the Australian po ....Estimating per capita use and release of chemicals by wastewater analysis. This project aims to systematically collect and analyse wastewater to assess human exposure to chemicals including drugs, pharmaceuticals, lifestyle chemicals and environmental pollutants. By combining temporal sampling from key sewage treatment plants with comprehensive nationwide sampling over the week of the 2016 census day, the project expects to estimate the per-capita human exposure to chemicals in the Australian population. Accurate and objective per-capita based consumption and release estimates for a wide range of chemicals is intended to provide a baseline against which to measure changes in our chemosphere.Read moreRead less
Special Research Initiatives - Grant ID: SR120100005
Funder
Australian Research Council
Funding Amount
$3,198,392.00
Summary
National Indigenous Research and Knowledges Network. The National Indigenous Research and Knowledges Network will capacity build and increase Indigenous higher degree, early and mid career researchers to develop new approaches to undertaking research and producing outcomes. NIRAKN's members include a number of universities, AIATSIS, and partner organisations.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE170100017
Funder
Australian Research Council
Funding Amount
$1,231,000.00
Summary
Networked knowledge for repatriation communities. This project aims to build a digital facility that supports the repatriation of Indigenous human remains. Repatriation contributes to reconciliation and Indigenous healing and wellbeing, and has been the most important agent of change in the relationship between Indigenous peoples, museums and the academy over the past 40 years. Successful repatriation requires and produces research materials diverse in type, geography and accessibility. Within a ....Networked knowledge for repatriation communities. This project aims to build a digital facility that supports the repatriation of Indigenous human remains. Repatriation contributes to reconciliation and Indigenous healing and wellbeing, and has been the most important agent of change in the relationship between Indigenous peoples, museums and the academy over the past 40 years. Successful repatriation requires and produces research materials diverse in type, geography and accessibility. Within an Indigenous data-governance framework, this project will gather, preserve and make accessible a critical and extensive record of repatriation information worldwide. The project is expected to support repatriation practice and scholarship and improve the opportunities of repatriation for social good.Read moreRead less
Assessment of bentonites as remediating agents for metal contaminated soils using innovative bioavailability reduction technology. The project seeks to carry out research on innovative, economically sustainable risk-based solutions (soil amendments) for metal-contaminated soils and methods for assessing the potential risk/bioavailability of soil bound metals. The work will determine factors affecting the reactivity, mobility and bioavailability of metals in Australian soils and clays and method ....Assessment of bentonites as remediating agents for metal contaminated soils using innovative bioavailability reduction technology. The project seeks to carry out research on innovative, economically sustainable risk-based solutions (soil amendments) for metal-contaminated soils and methods for assessing the potential risk/bioavailability of soil bound metals. The work will determine factors affecting the reactivity, mobility and bioavailability of metals in Australian soils and clays and methods by which these can be controlled. Remediation options, such as natural clay amendments to reduce metal bioavailability, will be assessed against in vivo and in vitro bioavailability assays in order to develop cost effective, risk-based remediation strategies and assessment protocols for urban and rural contaminated soils.Read moreRead less
Modelling and control of mosquito-borne diseases in Darwin using long-term monitoring. Management of mosquito populations is a high public health priority because these insects can spread diseases such as malaria, dengue, Ross River virus, Barmah Forest virus, Murray Valley encephalitis, Japanese encephalitis and Kunjin/West Nile virus. Our research into the effectiveness of mosquito control programs in Darwin is of immediate national relevance and priority given the need to Safeguard Australia ....Modelling and control of mosquito-borne diseases in Darwin using long-term monitoring. Management of mosquito populations is a high public health priority because these insects can spread diseases such as malaria, dengue, Ross River virus, Barmah Forest virus, Murray Valley encephalitis, Japanese encephalitis and Kunjin/West Nile virus. Our research into the effectiveness of mosquito control programs in Darwin is of immediate national relevance and priority given the need to Safeguard Australia from invasive diseases. There is an urgency to undertake our research because global environmental change and increasing movements of people (particularly military personnel) from overseas regions where these diseases are endemic is increasing the vulnerability of northern Australia to the (re)establishment of mosquito borne diseases.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
ARC/NHMRC Research Network in Ageing Well. The ARC Research Network on Ageing Well will support interdisciplinary, high quality research in the National Research Priority Goal of Ageing Well, Ageing Productively. It will build scale and focus on Australia's notable research strengths in ageing, promote collaborative research, and extend research capacities. The Network will link outstanding researchers from many disciplines, nurture developing researchers, relate social to health researchers, s ....ARC/NHMRC Research Network in Ageing Well. The ARC Research Network on Ageing Well will support interdisciplinary, high quality research in the National Research Priority Goal of Ageing Well, Ageing Productively. It will build scale and focus on Australia's notable research strengths in ageing, promote collaborative research, and extend research capacities. The Network will link outstanding researchers from many disciplines, nurture developing researchers, relate social to health researchers, strengthen international collaboration, and involve and inform end-point users. It will foster research which responds to the aspirations and needs of older Australians and informs action that can improve experiences of individual and population ageing.Read moreRead less