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New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
GENETIC PREDICTION OF FRACTURE IN A RISK-STRATIFIED POPULATION
Funder
National Health and Medical Research Council
Funding Amount
$363,000.00
Summary
Osteoporosis is a condition characterised by excessive bone loss and impaired bone quality, which ultimately results in fracture with minimal trauma. Osteoporosis affects 27% of women and 11% of men aged 60 years or above in the community, and costs Australia around $7 billion each year. Individuals with low bone mineral density (BMD) have a significantly higher risk of fracture than those with normal BMD. In the long-term (14-year) Dubbo Osteoporosis Epidemiology Study, more than half of indivi ....Osteoporosis is a condition characterised by excessive bone loss and impaired bone quality, which ultimately results in fracture with minimal trauma. Osteoporosis affects 27% of women and 11% of men aged 60 years or above in the community, and costs Australia around $7 billion each year. Individuals with low bone mineral density (BMD) have a significantly higher risk of fracture than those with normal BMD. In the long-term (14-year) Dubbo Osteoporosis Epidemiology Study, more than half of individuals with osteoporosis (e.g., low BMD) did not sustain a fracture, while approximately 60% of fracture cases had BMD above the high risk levels. Thus, BMD alone is not a good discriminant of fracture versus non-fracture cases. It is widely known that the liability to fracture is determined in part by genes. Previous studies, including from our group, have suggested a number of candidate genes that are associated with fracture risk. The fundamental issue that this study is concerned is that how and whether genetic markers could be used to facilitate case finding. It is proposed that common variations of certain genes are associated with fracture risk independent of BMD. That is, they can identify individuals at relatively high and low fracture risk after stratification for BMD. Hence, some markers may identify those individuals likely (and unlikely) to fracture even with low (osteoporotic) BMD. Similarly, some, possibly the same, markers may identify individuals at high risk of fracture despite relatively good (ie non-osteoporotic) BMD. It is further proposed that no single gene will achieve this outcome, but rather a small set of such gene polymorphisms will provide clinically useful risk information. This effect is entirely analogous to the use of clinical risk indicators (eg, age, weight, sex, family history, etc) to assess the risk of future fracture.Read moreRead less
An Implementation Trial Of A Telephone-based Care Management Program For Patients Following Myocardial Infarction
Funder
National Health and Medical Research Council
Funding Amount
$641,656.00
Summary
We are trialling the implementation of an innovative telephone-delivered program for managing people who have had a heart attack. Cardiac rehabilitation programs are generally based in hospitals in Australia and people have to be able to attend the programs when they are offered. Even though such programs have been shown to be very effective in improving outcomes after a heart attack, at least 85% of Australians after a heart attack are either unable to access and-or unable to attend such progra ....We are trialling the implementation of an innovative telephone-delivered program for managing people who have had a heart attack. Cardiac rehabilitation programs are generally based in hospitals in Australia and people have to be able to attend the programs when they are offered. Even though such programs have been shown to be very effective in improving outcomes after a heart attack, at least 85% of Australians after a heart attack are either unable to access and-or unable to attend such programs due to transport and many other barriers. So, there is an urgent need to identify new, effective, and affordable ways of delivering cardiac rehabilitation programs to people after a heart attack. The proposed telephone-delivered program will be particularly appropriate for disadvantaged people, such as those living in rural and remote areas as well as Indigenous Australians, who do not currently have access to hospital-based cardiac rehabilitation programs. People who have had a heart attack will be recruited from three of Brisbane's largest public teaching hospitals, and will then be randomly assigned to the telephone-delivered cardiac rehabilitation program (Care Management Intervention group) or to a control or Usual Care group. The Care Management Intervention group will receive regular telephone calls from a highly qualified 'Care Manager' based at the renowned National Heart Foundation of Australia telephone support service, 'Heartline'. The Care Manager will help people to manage their heart condition and prevent the reoccurrence of further heart problems. People will also be encouraged to make necessary lifestyle and behavioural changes with the assistance of the Care Manager and some Heart Foundation educational and interactive resources to record their progress. We expect that the program or Care Management Intervention group will have better health outcomes than the control or Usual Care group at 6 and 12 months follow up.Read moreRead less
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.
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
Dynamic Postural Stability And Falls Prediction In Older People During Walking In Real-world Environments.
Funder
National Health and Medical Research Council
Funding Amount
$680,793.00
Summary
The increased occurrence of falls with advancing age (33-50% of people aged >65 years) is a significant cause of mortality (1014 deaths in 1998), morbidity, and disability, affecting not only the individuals concerned, but the health care system (45,069 fall related hospitalizations in 1998 in Australia) and the broader community (National falls Prevention Initiative, 2004). Although there are a number of falls risk tests, most rely on determination of body sway while standing when the body i ....The increased occurrence of falls with advancing age (33-50% of people aged >65 years) is a significant cause of mortality (1014 deaths in 1998), morbidity, and disability, affecting not only the individuals concerned, but the health care system (45,069 fall related hospitalizations in 1998 in Australia) and the broader community (National falls Prevention Initiative, 2004). Although there are a number of falls risk tests, most rely on determination of body sway while standing when the body is static rather than in motion. Given that up to 70% of falls occur during walking and performing transfers, there is a clear need to develop tests of falls risk prediction that incorporate indices of postural stability measured during more dynamic activities. Test development needs to be underpinned by clear evidence of how age-related sensory and motor deficits affect postural stability during walking. The studies outlined in this application will develop and utilise new accelerometer-based technologies to determine the fundamental mechanisms underlying balance control during walking in older people. Specifically, this project will aim to develop a clear understanding of how changes in factors as vision, neuromuscular function (strength, stiffness) and proprioception contribute to the overall decline in stability and balance during walking in older people. Combined with physiological assessment measures developed by the research team, the research will allow the development of a more definitive predictive test of stability and falls risk. This test will be able to be used by health professionals for assessment of older people to determine the most effective therapeutic and-or exercise interventions to target those individuals at risk. This technology will also be adaptable to a biofeedback device to allow individuals to monitor their own stability.Read moreRead less
A Population-based Family Study Of Filaggrin Mutations And Allergic Disease Risk In Australia
Funder
National Health and Medical Research Council
Funding Amount
$308,584.00
Summary
It is biologically plausible that the association of known environmental risk factors for asthma may be different for genetically susceptible individuals. Few studies have examined the interaction between genetic and environmental factors. that have not considered genetic susceptibility are estimating an average risk of asthma across all genotypes in the population which may not be relevant for a particular sub-group.
A Multi-setting Intervention To Reduce Sedentary Behaviour, Promote Physical Activity And Improve Childrens Health
Funder
National Health and Medical Research Council
Funding Amount
$860,343.00
Summary
Sedentary behaviours and physical inactivity play a major role in the rising prevalence of obesity among children in Australia. This intervention study will take place in the school and family settings which play a critical role in shaping children's health behaviours. The objective is to determine whether a 2-year behavioural intervention reduces sedentary behaviour and promotes physical activity and results in improved health among 8-9 year old children.
A Survey Of The Sexual Behaviour And Sexual Health Of Australian Prisoners
Funder
National Health and Medical Research Council
Funding Amount
$591,000.00
Summary
The Australian Study of Health and Relationships telephone survey recently reported on the sexual attitudes, knowledge, health and behaviour of over 19,000 Australians. One of the groups that was omitted from that survey was prisoners. Yet prisoners are a high-risk group for sexual ill health. Prisoners are mostly drawn from the most disadvantaged groups in society: they are more likely to be unemployed, they have less education and lower incomes than other Australians, and many suffer from mino ....The Australian Study of Health and Relationships telephone survey recently reported on the sexual attitudes, knowledge, health and behaviour of over 19,000 Australians. One of the groups that was omitted from that survey was prisoners. Yet prisoners are a high-risk group for sexual ill health. Prisoners are mostly drawn from the most disadvantaged groups in society: they are more likely to be unemployed, they have less education and lower incomes than other Australians, and many suffer from minor intellectual disabilities and-or mental illness. This proposed survey of inmates in Australian prisons will fill in this missing data. Prisoners are the forgotten population in many countries. Only a few surveys of prisoners' health have been performed. There are some surveys of sexual behaviour in particular prisons overseas, though most of them concentrate on HIV risks and do not explore the sexual lives of prisoners in the same way as the major national sex surveys in the US, the UK and France did for people living outside prison. Prison is itself a dangerous place for people's sexual health. In prison, much of the sex that occurs is not voluntary. Sexual assault in prisons can lead to serious physical injury as well as risk of sexually transmitted diseases including HIV-AIDS. Although some of these injuries can be sufficiently serious to require surgery, only a small proportion are reported to the authorities. Younger prisoners (aged 18-25) and those who are small, slightly built or gay, are at higher risk of being assaulted. This study will explore the factors surrounding sexual assault in prison and make recommendations for preventing it.Read moreRead less