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
ARC Research Network in Enterprise Information Infrastructure. EII targets consolidated research towards the comprehensive development & establishment of advanced information infrastructures. Its prime purpose is to provide a forum for intellectual exchange by diverse yet complementary research groups, to address the fundamental research problems faced by scientific & business communities when dealing with deployment of information technology to globally distributed, and data intensive environme ....ARC Research Network in Enterprise Information Infrastructure. EII targets consolidated research towards the comprehensive development & establishment of advanced information infrastructures. Its prime purpose is to provide a forum for intellectual exchange by diverse yet complementary research groups, to address the fundamental research problems faced by scientific & business communities when dealing with deployment of information technology to globally distributed, and data intensive environments. EII will address 3 tightly coupled research themes: Ability to interoperate across existing heterogenous platforms & applications; Efficient processing of very large data sets; Technology adoption & impact. Generic results will be applicable to e-science and large business information systems installations.Read moreRead less
Special Research Initiatives - Grant ID: SR0354908
Funder
Australian Research Council
Funding Amount
$10,000.00
Summary
The Insect-Plant Chemical Ecology Network (IPCEN). We bring together plant molecular biology, entomology and analytical chemistry to transform three leading fields of Australian research into an advanced science with far reaching capabilities in innovative research and applied outcomes. Expertise studying the biochemical pathways that produce specific plant compounds and expertise in insect recognition and response to these chemicals will be brought together. This will lead to new research outco ....The Insect-Plant Chemical Ecology Network (IPCEN). We bring together plant molecular biology, entomology and analytical chemistry to transform three leading fields of Australian research into an advanced science with far reaching capabilities in innovative research and applied outcomes. Expertise studying the biochemical pathways that produce specific plant compounds and expertise in insect recognition and response to these chemicals will be brought together. This will lead to new research outcomes and solutions to problems in agriculture, horticulture, forestry and protection of Australia's native flora. Researchers are struggling to create these links, constrained by disciplinary boundaries and geographical isolation. Key industries and researchers already support this proposal.Read moreRead less
Gauging informed public opinion on sentencing sex offenders: a national study. Sex offences appear to attract the greatest community condemnation and desire to punish, particularly when involving predatory stranger rapists or when the victims are children. This national study aims to ascertain informed public opinion on sex offender sentencing by exploring the views of jurors in sex offence trials in all higher courts in Australia.
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.
Using jurors to gauge informed public opinion on sentencing. Policy makers and judicial officers are under increasing pressure to respond to public opinion on sentencing issues and yet gauging public opinion on these issues is problematic. This project will use a new means of ascertaining informed public opinion on sentencing issues to better inform policy makers and judicial officers.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE210100028
Funder
Australian Research Council
Funding Amount
$3,000,000.00
Summary
Australian Membership of the International Ocean Discovery Program. This proposal is for an 18-month membership of the International Ocean Discovery Program (IODP), the world’s largest collaborative research program in Earth and Ocean sciences. The Program studies the history and current activity of the Earth by conducting seagoing coring expeditions and monitoring of instrumented boreholes, using globally unique infrastructure that Australians would otherwise have no access to. Program outcomes ....Australian Membership of the International Ocean Discovery Program. This proposal is for an 18-month membership of the International Ocean Discovery Program (IODP), the world’s largest collaborative research program in Earth and Ocean sciences. The Program studies the history and current activity of the Earth by conducting seagoing coring expeditions and monitoring of instrumented boreholes, using globally unique infrastructure that Australians would otherwise have no access to. Program outcomes include understanding past global environmental change on multiple time scales, the deep biosphere, plate tectonics, formation and distribution of resources, and generation of hazards. These outcomes are paramount to Australia’s national science and research priorities, and societal and economic prosperity.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE200100183
Funder
Australian Research Council
Funding Amount
$950,000.00
Summary
Protein Quantitation Centre of South Australia renewal for Systems Biology. This application aims to renew Mass Spectrometry (MS) instrumentation to characterise and quantify Biomolecules towards a better understanding of biological processes. UniSA, Uni Adelaide, Flinders have established the Protein Quantitation Centre of South Australia (PQCSA) in 2013 through an ARC LIEF lead by CI Hoffmann and this application will renew and expand MS capacity towards metabolites, glycans and lipids. This ....Protein Quantitation Centre of South Australia renewal for Systems Biology. This application aims to renew Mass Spectrometry (MS) instrumentation to characterise and quantify Biomolecules towards a better understanding of biological processes. UniSA, Uni Adelaide, Flinders have established the Protein Quantitation Centre of South Australia (PQCSA) in 2013 through an ARC LIEF lead by CI Hoffmann and this application will renew and expand MS capacity towards metabolites, glycans and lipids. This will enable researchers in South Australia to work towards a full understanding of biological processes and towards expanding their knowledge to Systems Biology. Expected outcome of the projects are multiple interdisciplinary collaborations between the CI's and should provide significant benefits in research outputs.Read moreRead less
Challenges, Possibilities and Future Directions: A National Assessment of Australia's Children's Courts. Children's Courts occupy a unique position in the child welfare and juvenile justice systems in responding to often marginalized delinquent youth and vulnerable children and families. Philosophical and structural shifts in Australia and overseas suggest community and legal system responses are often ineffective and contribute to longer-term problems, creating social challenges for governments ....Challenges, Possibilities and Future Directions: A National Assessment of Australia's Children's Courts. Children's Courts occupy a unique position in the child welfare and juvenile justice systems in responding to often marginalized delinquent youth and vulnerable children and families. Philosophical and structural shifts in Australia and overseas suggest community and legal system responses are often ineffective and contribute to longer-term problems, creating social challenges for governments and communities alike. This national study will examine how key stakeholders, including, significantly, judicial officers, view the Children's Court's contemporary responses and challenges, their preferred alternatives responses and the viability of suggested reforms, thus offering a unique contribution to informing legal and social policy change.Read moreRead less