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
Supporting personalised learning in secondary schools through the use of specific mathematics assessments that reveal thinking. This project will improve numeracy standards in secondary schools, by assisting teachers to personalise the teaching of each student. Through detailed research, the project will develop sophisticated assessments that clearly reveal students' mathematical thinking. On-line diagnosis will suggest teaching activities that can bring about desired conceptual changes. The eff ....Supporting personalised learning in secondary schools through the use of specific mathematics assessments that reveal thinking. This project will improve numeracy standards in secondary schools, by assisting teachers to personalise the teaching of each student. Through detailed research, the project will develop sophisticated assessments that clearly reveal students' mathematical thinking. On-line diagnosis will suggest teaching activities that can bring about desired conceptual changes. The effectiveness of the resources will be thoroughly tested, for impact on student achievement and the mathematics teaching skills of teachers, especially those working out-of-field. Rural schools will have equal access to these resources. Good numeracy provides the foundation for life-long learning, employment satisfaction and the economic competitiveness of Australia.Read moreRead less
Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
Statistical literacy in the education workplace: Barriers and enablers for school personnel making data-driven decisions. Using quantitative data to monitor workplace processes and improve quality requires both strong statistical literacy and commitment to such decision-making processes. This study of data usage by school personnel will contribute to the success of the National Assessment Program that monitors progress towards the National Goals for Schooling in the 21st Century. It will provide ....Statistical literacy in the education workplace: Barriers and enablers for school personnel making data-driven decisions. Using quantitative data to monitor workplace processes and improve quality requires both strong statistical literacy and commitment to such decision-making processes. This study of data usage by school personnel will contribute to the success of the National Assessment Program that monitors progress towards the National Goals for Schooling in the 21st Century. It will provide evidence from which to enhance professional learning in data interpretation for both pre- and in-service teachers. The resulting research template has application for examining (a) statistical literacy needs in other sectors and (b) workers' perceptions of quantitative data used to inform decision-making. This will enhance the smart use of data in the workplace.Read moreRead less
Providing the Mathematical Foundation for an Innovative Australia within Reform Based Learning Environments. The focus of this project is the pedagogical change that The Review of Teaching and Teacher Education indicates must take place in order to lay the quantitative foundations for advancing innovation, science, technology, and mathematics, while satisfying the requirements of a reform-based learning environment. Professional learning directed at teachers' pedagogical content knowledge and be ....Providing the Mathematical Foundation for an Innovative Australia within Reform Based Learning Environments. The focus of this project is the pedagogical change that The Review of Teaching and Teacher Education indicates must take place in order to lay the quantitative foundations for advancing innovation, science, technology, and mathematics, while satisfying the requirements of a reform-based learning environment. Professional learning directed at teachers' pedagogical content knowledge and belief structures with respect to mathematics within an environment of curricular change, will be evaluated in evidence-based terms related to teacher change and student outcomes. Significance includes the context, the middle school years in rural district schools, and the influence of technology on pedagogy.Read moreRead less
Improving regional secondary students' learning and well-being. Given the academic under-performance and lower life opportunities of Australian regional and rural students compared to their metropolitan counterparts, this research has the potential to make a significant social, cultural and economic contribution to the community. This research will be useful in developing an evidence-based framework to guide policy and practice in implementing an effective systematic approach to regional educati ....Improving regional secondary students' learning and well-being. Given the academic under-performance and lower life opportunities of Australian regional and rural students compared to their metropolitan counterparts, this research has the potential to make a significant social, cultural and economic contribution to the community. This research will be useful in developing an evidence-based framework to guide policy and practice in implementing an effective systematic approach to regional education and, where appropriate, other contexts. The research's economic benefit centres on gains for individuals, local communities, and the nation in enhancing regional students' academic achievements, sense of well-being and aspirations; leading to more productive citizens.Read moreRead less
Listen to me, I really am sick! Understanding patient and family perspectives in triggering responses to medical emergencies. This project investigates whether patient and family perspectives are treated as evidence of a deteriorating health state whilst in hospital. Recommendations from this study will inform the development of patient centred strategies to reduce delays in clinician response to physiological deterioration and improve patient safety in hospitals.
Improving Regional Low SES Students' Learning and Wellbeing. This study aims to address the learning and wellbeing needs of over 7000 predominantly low socio-economic status students in regional Australia by researching the conditions that enable refinement and extension of a successful curricular and wellbeing program. The current low educational performance of this student cohort has significant negative effects on individual employment prospects and broader national productivity. Their under- ....Improving Regional Low SES Students' Learning and Wellbeing. This study aims to address the learning and wellbeing needs of over 7000 predominantly low socio-economic status students in regional Australia by researching the conditions that enable refinement and extension of a successful curricular and wellbeing program. The current low educational performance of this student cohort has significant negative effects on individual employment prospects and broader national productivity. Their under-achievement and disengagement from schooling also contribute to many antisocial, harmful short-and long-term outcomes for individuals, with significant health and other costs to the broader community. Outcomes from the project have the potential to improve these current outcomes and to be applicable to similar settings.Read moreRead less
Reasonable Adjustments to Maths for Students with Intellectual Disabilities. Reasonable adjustments to secondary mathematics – parents want it, students need it, the Australian law requires it – but how do teachers achieve it? The aim of this project is to find ways to adjust, teach and assess secondary mathematics for students with intellectual and developmental disabilities. The significance of this study is in solving a problem facing teachers who are required by law to teach mathematics with ....Reasonable Adjustments to Maths for Students with Intellectual Disabilities. Reasonable adjustments to secondary mathematics – parents want it, students need it, the Australian law requires it – but how do teachers achieve it? The aim of this project is to find ways to adjust, teach and assess secondary mathematics for students with intellectual and developmental disabilities. The significance of this study is in solving a problem facing teachers who are required by law to teach mathematics without evidence informed approaches. Expected outcomes are an evidence-base for reasonable adjustments to secondary mathematics and approaches and strategies for teachers for inclusive practices. If ways for teaching year-level mathematics to learners with intellectual disability are developed, many more students may benefit.
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Empowering Aboriginal & Torres Strait Islander Girls, Changing Communities. This project applies Indigenous knowledges to develop new understandings and insights in the area of Aboriginal and Torres Strait Islander girls’ education. Expected outcomes of the project include: the development of a national framework that supports the education of girls and acknowledges the importance of self-determination, culture, gender and place in creating life changing educational opportunities; addressing Clo ....Empowering Aboriginal & Torres Strait Islander Girls, Changing Communities. This project applies Indigenous knowledges to develop new understandings and insights in the area of Aboriginal and Torres Strait Islander girls’ education. Expected outcomes of the project include: the development of a national framework that supports the education of girls and acknowledges the importance of self-determination, culture, gender and place in creating life changing educational opportunities; addressing Close the Gap targets; and creating broader long lasting positive changes regarding access, participation and success for Aboriginal and Torres Strait Islander students. The outcomes of this project can provide significant benefits to the broad Australian schooling system.Read moreRead less