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.
High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
Improving The Prevention, Treatment And Management Of Cardiovascular & Chronic Disease In The Community
Funder
National Health and Medical Research Council
Funding Amount
$774,540.00
Summary
The identification, prevention and management of cardiovascular and chronic disease risk factors and understanding impact on clinical outcomes is fundamental to improving health and well-being. The program of work encapsulated in this application utilises modern epidemiological research methods involving large scale clinical trials, registries and epidemiological modelling to advance our understanding and provide new directions for cardiovascular disease prevention and management.
National Centre Of Research Excellence To Improve Management Of Peripheral Arterial Disease
Funder
National Health and Medical Research Council
Funding Amount
$2,618,637.00
Summary
Approximately 15% of adults have blockages or weakness of major arteries in the periphery, associated with impaired quality of life and a high mortality. Significant management deficiencies for these problems include limited diagnostic, prognostic and treatment options, as well as poor adoption of evidence based practice. The proposed national centre will bring together a group of experts in the field to instigate a number of initiatives to improve patient management.
The identification, prevention and management of chronic disease risk factors and understanding impact on clinical outcomes is fundamental to improving health and well-being. The program of work encapsulated in this application utilises a number of research methods to advance our understanding and provide new directions for cardiovascular disease prevention and management.
AusDiab 3: Emerging Risk Factors For And Long-term Incidence Of Cardio-metabolic Diseases
Funder
National Health and Medical Research Council
Funding Amount
$2,616,397.00
Summary
This study will track 11,000 Australian adults over 12 years to determine how many develop diabetes, obesity, kidney and heart disease. The study will develop ways to best predict those who are going to develop these conditions before they have arisen, and will explore a range of novel risk factors to better understand these conditions.
One of the current challenges in public health is to translate the progress from the Human Genome Project into reduced morbidity and mortality from disease. Once genetic defects are characterised, knowledge about the variability in severity of disease in mutation carriers, is important from a public health perspective. Hereditary Haemochromatosis (HH) is a common genetic disorder of iron overload that results in a wide spectrum of disease, varying from non-specific symptoms to severe damage to l ....One of the current challenges in public health is to translate the progress from the Human Genome Project into reduced morbidity and mortality from disease. Once genetic defects are characterised, knowledge about the variability in severity of disease in mutation carriers, is important from a public health perspective. Hereditary Haemochromatosis (HH) is a common genetic disorder of iron overload that results in a wide spectrum of disease, varying from non-specific symptoms to severe damage to liver, heart, pancreas and joints from iron deposition. It is easily treatable by regular blood donation, and population-based screening for HH has therefore been advocated. In this study we aim to address gaps in the existing data on HH regarding dietary and lifestyle factors that contribute to the variable clinical picture of HH. The study will be based on the Melbourne Collaborative Cohort Study, a cohort of 31,500 men and women who have been followed for approximately 10 years. Information on dietary and lifestyle factors was collected at initial enrollment, along with a blood specimen. We will test all non-Southern European participants (31,176) for the common HH mutations in the HFE gene and then select a subgroup of 1150 people, including all people with the main genetic defect as well as a comparison group, for further clinical followup. Participants will have genetic counselling and informed consent will be obtained. Participants will complete a short questionnaire and give a blood sample for measurement of iron overload, liver function, and other relevant blood tests, then undergo a brief clinical examination. Results of all tests will be given at a followup visit by genetic counsellor or physician. This study will provide important data on natural history of HH risk factors that influence variability in clinical presentation and the association of HFE mutations with chronic diseases and all cause mortality.Read moreRead less
The Role Of The Zinc Finger Transcriptional Repressor Znf238 During Nerve Cell Maturation
Funder
National Health and Medical Research Council
Funding Amount
$394,264.00
Summary
Proper foetal brain assembly is critical for brain function, but the underlying genetic mechanisms remain poorly defined. In this study, I will investigate a family of proteins that “turn on” neural gene expression in combination with another protein that “turns off” their expression during nerve cell development. Understanding this novel on/off mechanism for controlling gene expression in newborn nerve cells will further our understanding of how the brain is assembled.
ARC Centre of Excellence in Plant Energy Biology. We propose a novel approach to improve sustainable yield by optimising the overall efficiency of energy capture, conversion and use by plants. Efficiency gains in metabolism, transport, and development will be more effective than optimising single nutrient inputs or product outputs. Improving multiple parameters simultaneously is a necessary solution to the increasing demand for more crop yield from finite land, water, and nutrient resources. Unp ....ARC Centre of Excellence in Plant Energy Biology. We propose a novel approach to improve sustainable yield by optimising the overall efficiency of energy capture, conversion and use by plants. Efficiency gains in metabolism, transport, and development will be more effective than optimising single nutrient inputs or product outputs. Improving multiple parameters simultaneously is a necessary solution to the increasing demand for more crop yield from finite land, water, and nutrient resources. Unpredictable environmental challenges adversely affect plant growth and further perturb plant energy balance, limiting yield. The epigenetic controls, gene variants and signals discovered will provide a new basis for sustainable productivity of crops and will future-proof plants in changing climates.Read moreRead less
Determinant Spreading And The Role Of The MHC Class II Region In Systemic And Organ-specific Autoimmunity
Funder
National Health and Medical Research Council
Funding Amount
$140,570.00
Summary
Autoimmune diseases are among the most important group of disorders affecting the adult population. In these diseases the immune system damages organs and tissues producing widespread pathology (systemic autoimmunity such as Lupus erythematosus) or localised disease (organ-specific autoimmunity such as insulin dependent diabetes). We understand very little about how and why the immune system attacks the body's own tissues. This study examines how antibodies and T lymphocytes are formed against c ....Autoimmune diseases are among the most important group of disorders affecting the adult population. In these diseases the immune system damages organs and tissues producing widespread pathology (systemic autoimmunity such as Lupus erythematosus) or localised disease (organ-specific autoimmunity such as insulin dependent diabetes). We understand very little about how and why the immune system attacks the body's own tissues. This study examines how antibodies and T lymphocytes are formed against components located inside cells of the body. The study involves genetically modifying mice by introducing key human genes which influence the development of autoimmunity. In this way the role of these human genes can be examined experimentally without having to work exclusively on patients. We also hope that these mice might be important in creating new models of celiac disease and insulin dependent diabetes. The proposed experiments should tell us how these genes contribute to the development of autoimmune disease. This understanding could be relevant devising treatments and interventions to prevent autoimmune diseases.Read moreRead less