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
Managing for persistence of the saproxylic biota in production forest landscapes. The pattern of 'fragmentation' and 'matrix alteration' being examined in this study mirrors not just other areas of Tasmania but also much of south-eastern Australia. The research addresses a conservation biology issue in a new and novel way and has been developed with, and is supported by an industry partner working in multiple-use forest management, so the research provides both immediate applied and strategic o ....Managing for persistence of the saproxylic biota in production forest landscapes. The pattern of 'fragmentation' and 'matrix alteration' being examined in this study mirrors not just other areas of Tasmania but also much of south-eastern Australia. The research addresses a conservation biology issue in a new and novel way and has been developed with, and is supported by an industry partner working in multiple-use forest management, so the research provides both immediate applied and strategic outcomes. These outcomes directly relate to forest sustainability especially the management of the biodiverse dead wood habitat including the harvesting of fuelwood.Read moreRead less
Self-destructing CRISPR-constructs For Targeted Genome Editing In The Retina.
Funder
National Health and Medical Research Council
Funding Amount
$679,926.00
Summary
Despite the identification of specific mutations causing many inherited retinal dystrophies, all of these conditions are currently untreatable. We have established gene-editing techniques and have developed a novel mouse model, which will serve as a robust platform for testing different techniques of gene editing in the retina. No other group in the world is known to be using this platform for gene editing and our work will expedite the clinical translation of this technology.
Leadership and the construction of environmental concerns in Australia. This project analyses leadership of the Australian environment movement and its relationship to the articulation and negotiation of environmental threats and conflict. This research maps environmental leadership across Australia, asking how its formation and evolution impacts on public environmental debate.
Architectural Work Cultures: professional identity, education and wellbeing. This project aims to examine the work and study cultures of architecture in Australia, in relation to professional identity, and in terms of impact on wellbeing, with a whole-of-career scope spanning education to retirement. It will generate the first comprehensive account of work-related wellbeing problems for both architectural practitioners and students, via qualitative and quantitative methods and a vigorous engagem ....Architectural Work Cultures: professional identity, education and wellbeing. This project aims to examine the work and study cultures of architecture in Australia, in relation to professional identity, and in terms of impact on wellbeing, with a whole-of-career scope spanning education to retirement. It will generate the first comprehensive account of work-related wellbeing problems for both architectural practitioners and students, via qualitative and quantitative methods and a vigorous engagement with the profession. Expected outcomes include two toolkits to assist the profession to support cultural change across educational, workplace and institutional settings. This should provide significant benefits for the wellbeing of architects at all career stages, and also support the long-term viability of the sector.Read moreRead less
Archaeological Geophysics at Port Arthur. This project will apply geophysical technology for rapid non-invasive archaeological investigations at Port Arthur, Australia's premier convict era historical site.
It will be the first comprehensive integrated geophysical study of a major European archaeological site in Australia and will provide a framework for future geophysical archaeological investigations at other Australian historic sites.
The main direct outcomes from this project will be ....Archaeological Geophysics at Port Arthur. This project will apply geophysical technology for rapid non-invasive archaeological investigations at Port Arthur, Australia's premier convict era historical site.
It will be the first comprehensive integrated geophysical study of a major European archaeological site in Australia and will provide a framework for future geophysical archaeological investigations at other Australian historic sites.
The main direct outcomes from this project will be an improved understanding of the location and nature of obscured cultural features at Port Arthur and a significant improvement in the efficiency of archaeological investigations.
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Risk, impact on productivity and control of Mycosphaerella infections in plantations in plantations of E. nitens and E. globulus. Mycosphaerella, a defoliating fungal pathogen of eucalypts, has the potential to change markedly the economics of plantation development. This research will explore the fundamental physiological and pathological processes associated with the disease, link these findings into established process-based models of forest plantation growth for predictive purposes and util ....Risk, impact on productivity and control of Mycosphaerella infections in plantations in plantations of E. nitens and E. globulus. Mycosphaerella, a defoliating fungal pathogen of eucalypts, has the potential to change markedly the economics of plantation development. This research will explore the fundamental physiological and pathological processes associated with the disease, link these findings into established process-based models of forest plantation growth for predictive purposes and utilise hyperspectral remote sensing techniques to scale impact from the tree to plantation level. In doing this research not only are questions of key importance to an important and growing industry sector addressed, but an innovative approach to disease impact assessment established and a skills base and methodology widely applicable to other tree and agricultural disease problems established.Read moreRead less
Australia and the OECD: A Neglected Arena in Multi-level Governance. Issues such as trade liberalisation and the development of international agreements are of considerable importance for domestic policy within Australia. Development of such ideas and policies often serve as the basis for subsequent agreements in the multilateral system through policy transfer or the strategy of ?forum shopping?. Australia's interests as a middle power lie in a rules-based system, and thus its ability to maximiz ....Australia and the OECD: A Neglected Arena in Multi-level Governance. Issues such as trade liberalisation and the development of international agreements are of considerable importance for domestic policy within Australia. Development of such ideas and policies often serve as the basis for subsequent agreements in the multilateral system through policy transfer or the strategy of ?forum shopping?. Australia's interests as a middle power lie in a rules-based system, and thus its ability to maximize its effectiveness in shaping those rules is of paramount importance. This project will contribute knowledge which will serve directly this goal, by enhancing our understanding of the OECD as an arena of multilevel governance and Australia's participation within it.Read moreRead less
Everyday Heritage. This project aims to uncover everyday but overlooked forms of Australian heritage. Working collaboratively to bridge academic and industry practice, it seeks to develop innovative methods with outcomes expected to include enhanced collaboration between heritage, digital humanities, and historical research, and new resources for communities and the heritage sector. This should provide significant social and cultural benefits such as more inclusive forms of heritage, and broader ....Everyday Heritage. This project aims to uncover everyday but overlooked forms of Australian heritage. Working collaboratively to bridge academic and industry practice, it seeks to develop innovative methods with outcomes expected to include enhanced collaboration between heritage, digital humanities, and historical research, and new resources for communities and the heritage sector. This should provide significant social and cultural benefits such as more inclusive forms of heritage, and broader intellectual and practical understandings of shared history and citizenship. The project will promote public debate on the role of the past in modern Australia through a range of new forms of history and heritage, digital resources and heritage management tools.
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Linking environmental stress in pine plantations to bark stripping by browsers and fungal attack: developing novel options for management. The Australian forest industry, under the pressure of certification requirements, is moving towards a more integrated, reduced chemical, environmentally sustainable approach to protecting forest. Novel insights into the stress biology of pine will provide valuable information that will underpin efforts to reduce risk e.g. the matching of specific genotypes to ....Linking environmental stress in pine plantations to bark stripping by browsers and fungal attack: developing novel options for management. The Australian forest industry, under the pressure of certification requirements, is moving towards a more integrated, reduced chemical, environmentally sustainable approach to protecting forest. Novel insights into the stress biology of pine will provide valuable information that will underpin efforts to reduce risk e.g. the matching of specific genotypes to site so that pest resistance can be maintained even under environmental stress conditions. By understanding the 'attraction' factor of stressed pine to wallabies we will develop and test an urgently and nationally required diversionary feed for this browser. Lethal control involving poison is becoming increasingly restricted.Read moreRead less