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Finding The Genetic Causes Of Asthma: The Australian Asthma Genetics Consortium (AAGC)
Funder
National Health and Medical Research Council
Funding Amount
$1,697,639.00
Summary
Asthma is a major burden on individuals and health systems. Despite many decades of research, no major effective new treatments for asthma have emerged recently. We will establish a large international consortium to systematically test nearly all known human genes to identify those that influence asthma susceptibility. We expect to identify pathways not previously implicated in asthma and so lead to a potential breakthrough in the development of more effective treatments.
A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
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
Cancer And Low-dose Radiation - Possible Effects Of CT Scans In Childhood
Funder
National Health and Medical Research Council
Funding Amount
$476,650.00
Summary
Despite 100 years of research there is uncertainty about effects of low dose radiation from background and medical X-rays. We will measure the incidence of cancer in Australians exposed to CT scans (medical X-rays) as children between 1985 and 2005. Our results, from follow-up to 2009, will show whether there is a small but signicantly increased risk of cancer and guide further improvement in radiation safety standards if these prove to be necessary.
Comprehensive Assessment Of Genetic And Environmental Risk Factors For Melanoma: A Population-based Family Study
Funder
National Health and Medical Research Council
Funding Amount
$150,679.00
Summary
Excessive sunlight can cause melanoma, a serious type of skin cancer. However, there are other factors including a person's genetic make-up that are thought to put some people at higher risk. Many 'healthy' people have small changes in their genes that might make them more likely to develop melanoma. We need to know more about these genetic factors. Our study will investigate how particular small genetic changes influence a person's likelihood of developing melanoma.
Restoration Of The Nigrostriatal Pathway In The Parkinsonian Brain
Funder
National Health and Medical Research Council
Funding Amount
$299,431.00
Summary
Many obstacles exist for cell transplantation in Parkinson's disease; namely poor restoration of the host brain circuitry due to incorrect graft placement. This results in incomplete motor function and unwanted side effects. Through iterative studies we endeavor to restore this circuitry by placing grafts in the appropriate location and promoting their survival and growth-integrations. This will require: optimizing the donor tissue and exposure of the graft to growth stimulating factors.
The Role Of Angiotensin Converting Enzyme 2 In Diabetic Complications
Funder
National Health and Medical Research Council
Funding Amount
$453,144.00
Summary
Most heart attacks and strokes arise from narrowing of the arteries. This process is regulated by a number of hormonal pathways. One of the most important is the renin angiotensin system. Our group has demonstrated important changes in this pathway which play a pivotal role in regulating the development of atherosclerosis and its response to treatment. It is predicted that these studies will provide critical information to develop innovative treatment strategies for cardiovascular disease.
Salt And Cardiovascular Disease: Does Acute Salt-Sensitivity Convey Greater Cardiovascular Risk?
Funder
National Health and Medical Research Council
Funding Amount
$597,578.00
Summary
Salt intake of Australian adults is 10X more than required. Further, salt intake in very young children is alarmingly high secondary to high consumption of salty snacks and processed food. High dietary salt intake has been associated with increased cardiovascular disease and death. We will examine the cardiovascular risks for adults and children on a high salt diet and examine whether switching to a low salt diet ameliorates the high blood pressure and heart disease caused by high salt diets
A Multicentre Randomised Clinical Trial Of Physical Activity For The Treatment Of Patients With Alzheimers Disease
Funder
National Health and Medical Research Council
Funding Amount
$773,752.00
Summary
The number of older adults living with Alzheimer's disease (AD) will increase from 26.6 million to 106.2 million by 2050. In the absence of curative treatment options it is important to focus on non-pharmacological interventions such as physical activity. We propose to investigate whether a home-based physical activity program of 24 weeks for patients with AD can successfully decrease the rate of cognitive and functional declince and improve quality of life and psychological well-being.
Mechanisms Of Infection Triggered Renal Vasculitis
Funder
National Health and Medical Research Council
Funding Amount
$413,900.00
Summary
Kidney disease, including glomerulonephritis, is an important cause of ill-health in Australia. Some forms of kidney inflammation are linked to infection, but we don�t understand why. This project explores products from bacteria, particularly S.aureus, to work out how bacterial infection affects a form of kidney inflammation - ANCA-associated glomerulonephritis. It will establish how infection related signals activate local and immune cells, and define links between infection and the disease.