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
Powerful knowledge: mapping out standards of teachers' knowledge for teaching mathematics and English to achieve the goals of the curriculum. Setting standards is an important step to raising teacher quality. This project will establish benchmarks for teachers' knowledge at all levels of schooling in two key areas of the curriculum: English and mathematics.
Modelling with data: Advancing STEM in the primary curriculum. Improving the nation's skills in Science, Technology, Engineering, and Mathematics (STEM) remains a continuing concern, especially given the decline in international test results. The project aims to introduce a new approach to promoting this learning across grades 3-6 through modelling with data. With a focus on inquiry processes involving data variation and uncertainty within STEM-based contexts, the project aims to develop the imp ....Modelling with data: Advancing STEM in the primary curriculum. Improving the nation's skills in Science, Technology, Engineering, and Mathematics (STEM) remains a continuing concern, especially given the decline in international test results. The project aims to introduce a new approach to promoting this learning across grades 3-6 through modelling with data. With a focus on inquiry processes involving data variation and uncertainty within STEM-based contexts, the project aims to develop the important mathematical and statistical literacies needed for lifting student achievements. In advancing both theory and practice, the project aims to contribute to knowledge of primary students' capabilities for STEM problem solving and ways of enhancing implementation of the Australian Curriculum.Read moreRead less
Talking Maths: Bridging the gap through talk in Early Years mathematics . The study aims to address the gap in mathematical performance in Australia in relation to socioeconomic status (SES) by focusing on language and learning in mathematics. The study will design and evaluate a school-based intervention that positions language through talk as a key resource in teaching mathematics in Grades 1 and 2. Outcomes of the study will be empirical evidence of the effect of a language-based pedagogy on ....Talking Maths: Bridging the gap through talk in Early Years mathematics . The study aims to address the gap in mathematical performance in Australia in relation to socioeconomic status (SES) by focusing on language and learning in mathematics. The study will design and evaluate a school-based intervention that positions language through talk as a key resource in teaching mathematics in Grades 1 and 2. Outcomes of the study will be empirical evidence of the effect of a language-based pedagogy on young students' achievement in mathematics and further understanding of the relationship between talk and learning. These outcomes will inform policy and teacher education and have a long lasting impact on low SES students' educational and work opportunities with ultimate impact on economic and cultural prosperity.
Read moreRead less
The endangered swift parrot as a model for managing small migratory birds. Endangered swift parrots use variable locations while breeding in eastern Tasmania and over winter on the Australian mainland. This project aims to develop effective conservation strategies for swift parrots and other migrants using new and long term data and innovative technological solutions to tracking small birds across vast landscapes.
Developing molecular and physiological markers for marker-assisted barley breeding for waterlogging tolerance. The overall loss in crop production due to waterlogging is second largest after drought, and more than 5 million hectares in Australia are prone to waterlogging. This project will develop physiological and molecular markers allowing for the development of waterlogging tolerant crops, thus contributing to the National Goal of ‘Responding to Climate Change and Variability’.
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.
Read moreRead less
Technology and innovation management in high risk situations. The value of Australian bulk commodity exports and container imports is expected to double from $400 billion to $800 billion by 2020, placing considerable pressure on port waters. This project will examine the challenge whereby port operators are both encouraged to take risks to innovate but are constrained by the consequences of risk.
Statistical literacy in the primary school: beginning inference. Australia is committed to building a stronger foundation for school mathematics and science. This project will introduce primary school students to beginning inference, a core component of statistical literacy and an increasingly important life skill. Foundations for secondary mathematics study and productive societal participation will be laid.
Evolution. Morphodynamics and History of the Younghusband Peninsula. This project will examine the history and evolution of the Sir Richard-Younghusband Peninsula (SRYP) complex barrier in SA. The aims are to derive a understanding of how the influences of relative sea-level changes, neotectonics, and sediment supply, can produce remarkably different responses in barrier development. No complex barrier (i.e. foredune ridges in one portion, transgressive dunefields in another) has ever been compr ....Evolution. Morphodynamics and History of the Younghusband Peninsula. This project will examine the history and evolution of the Sir Richard-Younghusband Peninsula (SRYP) complex barrier in SA. The aims are to derive a understanding of how the influences of relative sea-level changes, neotectonics, and sediment supply, can produce remarkably different responses in barrier development. No complex barrier (i.e. foredune ridges in one portion, transgressive dunefields in another) has ever been comprehensively drilled, dated, modelled, or examined in the context of indigenous occupation and oral histories in Australia. The study provides excellent analogues for barrier and dune response, and shoreline translation to varying rates of sea level rise, paralleling pressures facing all coastlines today.Read moreRead less