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Field of Research : Optical technology
Research Topic : disease susceptibility
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  • Funded Activity

    Epidemiology Of Hereditary Haemochromatosis

    Funder
    National Health and Medical Research Council
    Funding Amount
    $868,795.00
    Summary
    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.
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    Australian Melanoma Family Study

    Funder
    National Health and Medical Research Council
    Funding Amount
    $866,437.00
    Summary
    Melanoma is one of Australia?s major cancer problems, but we still do not completely understand why certain people are at higher risk than others. This study is focussed on people who have developed melanoma at an early age (under 40yrs) and will compare their family history of cancer, skin features, genetic characteristics and various aspects of their previous sun exposure with people who don?t have melanoma. The large number of people involved and the fact that they will be selected at random .... Melanoma is one of Australia?s major cancer problems, but we still do not completely understand why certain people are at higher risk than others. This study is focussed on people who have developed melanoma at an early age (under 40yrs) and will compare their family history of cancer, skin features, genetic characteristics and various aspects of their previous sun exposure with people who don?t have melanoma. The large number of people involved and the fact that they will be selected at random from the population of Melbourne, Sydney and Brisbane which have very different melanoma rates, means that the study will be able to clarify what roles genes and environment play in the disease. It is intended to be an international benchmark in this regard, and Australia is the only country in which a study of this scope could be mounted. Potential benefits from this research will be a better understanding of the way sun exposure affects people differently, depending on their genetic makeup, the place of genetic testing in assessing people?s risk of melanoma, particularly if they have relatives with the disease, and way in which skin features like moles should be taken into account in that assessment. Finally, it is likely that better information about the types of genetic susceptibility to melanoma in the population will translate to more effective programs for the prevention of melanoma and for detection of melanomas efficiently at the earliest possible stage.
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    Funded Activity

    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.
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    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.
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    Funded Activity

    Genes And Environment In The Risk Of Early Age-Related Macular Degeneration: A Population-based Case-Control Study

    Funder
    National Health and Medical Research Council
    Funding Amount
    $949,588.00
    Summary
    This study will pool data from three well-conducted population-based cohorts of older persons to gain a large sample size in order to investigate the interplay of genes and environmental factors on the risk of age-related macular degeneration (AMD). The study will give insights into AMD pathogenesis, and enable potential targeting of people with AMD susceptibility genes for preventive approaches. These could ultimately reduce the burden of this blinding condition.
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    Funded Activity

    Genes And Environment In Late AMD: Pooling A State And Population Resource

    Funder
    National Health and Medical Research Council
    Funding Amount
    $701,642.00
    Summary
    This study will pool cases from the West Australian Macular Degeneration database with the Blue Mountains Eye Study (NSW), to investigate the interplay of genes and environmental factors on risk of age-related macular degeneration (AMD), in particular the late, vision threatening stage. It will provide insights into the underlying causes of AMD, and could allow us to target people with AMD susceptibility genes for preventive approaches, which could reduce the burden of this disease.
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    Funded Activity

    Environmental And Genetic Factors In Childhood Acute Lymphoblastic Leukaemia: A Case-control Study.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $1,788,500.00
    Summary
    In most countries, acute lymphoblastic leukaemia is the commonest cancer in children. One in 2000 children will develop this disease before their 15th birthday. New methods of treatment introduced over the last 30 years have resulted in cure for many children. However, one third of children diagnosed with this type of leukaemia still die and, even in those whose lives are saved, cure is achieved at a significant cost to the child, the family and the community. Greater understanding of the develo .... In most countries, acute lymphoblastic leukaemia is the commonest cancer in children. One in 2000 children will develop this disease before their 15th birthday. New methods of treatment introduced over the last 30 years have resulted in cure for many children. However, one third of children diagnosed with this type of leukaemia still die and, even in those whose lives are saved, cure is achieved at a significant cost to the child, the family and the community. Greater understanding of the development of childhood leukaemia may lead to preventive measures. Most children with this type of leukaemia are very young, suggesting that factors to which parents are exposed may affect future children. For this reason, as well as investigating the health and lifestyle of the child, it is essential to study the parents. Recent research suggests an association between the mother's intake of folate during pregnancy and her child's risk of developing the most common type of childhood leukaemia. It is also apparent that genetic differences result in varying abilities to deal with toxins, which may alter the risk of developing some cancers. Diet and lifestyle probably also affect this risk. These observations and interactions need to be examined in greater detail. In this large Australia-wide study specific genes will, for the first time, be examined and analysed in conjunction with rigorous assessment of exposures thought to be related to the development of childhood leukaemia. Results obtained from children with leukaemia and their parents will be compared with those from healthy children and their parents. This study is unique in its attempt to assess gene-environment interactions in Australian children and their parents. It will clarify the role of folate and other potential environmental agents in the development of childhood leukaemia and examine gene variations that may affect cancer risk.
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    Funded Activity

    Trials To Prevent The Transmission And Complications Of Sexually Transmitted Infections, Including HIV

    Funder
    National Health and Medical Research Council
    Funding Amount
    $306,123.00
    Summary
    Sexually transmitted infections (STIs) are important causes of illness in some sectors of the community. Even though they can be effectively prevented and treated, many health services do not give them priority. This research project will study ways in which general practitioners can better diagnose and treat STIs. We will carry out trials that compare new approaches to supporting doctors in this area, that involve a mixture of training, reminders and technical support as needed.
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    Funded Activity

    Perth Elderly Cohort Study

    Funder
    National Health and Medical Research Council
    Funding Amount
    $891,110.00
    Summary
    This study will follow up over 12,000 men aged 65-83 years who have previously completed a questionnaire about their medical, social, family and occupational history and lifestyle and have undergone a simple physical examination (height, weight, waist, girth at the hips and blood pressure). The first aim is to determine which of these factors predicts serious ill-health from heart disease, stroke and certain cancers in old age. In addition, we will test the hypothesis that risk factors for heart .... This study will follow up over 12,000 men aged 65-83 years who have previously completed a questionnaire about their medical, social, family and occupational history and lifestyle and have undergone a simple physical examination (height, weight, waist, girth at the hips and blood pressure). The first aim is to determine which of these factors predicts serious ill-health from heart disease, stroke and certain cancers in old age. In addition, we will test the hypothesis that risk factors for heart disease also predict the development of dementia because it seems that part of dementia in some patients is explained by their having suffered multiple small strokes. Finally, we will examine the relationship between development of dementia and previous major surgery as there is growing evidence that major surgical operations in older patients can be followed by confusion and impairment of thinking that may never recover fully. The overall aim is to discover preventable factors for several of the leading causes of ill-health in old age.
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    Funded Activity

    Metabolic Syndrome, Inflammation And Non-alcoholic Fatty Liver Disease In Busselton

    Funder
    National Health and Medical Research Council
    Funding Amount
    $351,300.00
    Summary
    The metabolic syndrome is a clustering of obesity, insulin resistance, high cholesterol and high blood pressure. It could affect up to 30% of the population and often leads to diabetes and heart disease. Fatty liver disease is a chronic liver condition that often has no symptoms but can lead to serious liver damage. It could affect up to 25% of the population and is common even in people who drink very little alcohol. The rising prevalence of obesity in Australia suggests that the metabolic synd .... The metabolic syndrome is a clustering of obesity, insulin resistance, high cholesterol and high blood pressure. It could affect up to 30% of the population and often leads to diabetes and heart disease. Fatty liver disease is a chronic liver condition that often has no symptoms but can lead to serious liver damage. It could affect up to 25% of the population and is common even in people who drink very little alcohol. The rising prevalence of obesity in Australia suggests that the metabolic syndrome and fatty liver disease may be on the increase and therefore so too could diabetes and heart disease which already consume significant health resources. Using the unique health data collection of the Busselton Health Study in Western Australia, this project will help to determine how common these conditions are in Australia and lead to a better understanding of the nature and causes of these conditions including the possible role of chronic inflammation. This important information will be used to provide opportunities for better risk assessment, disease prevention, and earlier intervention.
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    Showing 1-10 of 57 Funded Activites

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