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Field of Research : Epidemiology
Research Topic : Genetic Polymorphisms
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  • Funded Activity

    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.
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    Funded Activity

    Genetic Polymorphisms In Genes Controlling Innate Immunity As Risk Factors For Childhood Acute Lymphoblastic Leukaemia

    Funder
    National Health and Medical Research Council
    Funding Amount
    $241,500.00
    Summary
    For some time now, researchers have speculated that the development of childhood leukaemia is related to exposure to an infectious agent. However, a causal pathogen is yet to be identified. Recent studies have shown that the initial recognition of microbes as they enter the human body is determined by a group of receptors, toll-like receptors (TLRs), which selectively bind to essential components of these pathogens. This process allows the body to respond immediately to microbial invasion; a pro .... For some time now, researchers have speculated that the development of childhood leukaemia is related to exposure to an infectious agent. However, a causal pathogen is yet to be identified. Recent studies have shown that the initial recognition of microbes as they enter the human body is determined by a group of receptors, toll-like receptors (TLRs), which selectively bind to essential components of these pathogens. This process allows the body to respond immediately to microbial invasion; a process which is vital during early childhood, when clonal expansion of antibodies and other host defences is inadequate. It is becoming increasingly apparent that this innate immune response is not just the first line of defence but a necessary event for the development of an adaptive immune response. We propose that the innate immune system of children carrying TLR gene variants may be less effective at detecting the presence of microbial pathogens in the environment. We hypothesize that by dampening the stimulation of innate immunity in early childhood, TLR gene variants may indirectly cause a dysfunction in the maturation of a child's immune system and increase the chance of a pre-leukaemic clone emerging, leading to the development of childhood leukaemia.
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    Funded Activity

    A Case Control Study Of Risk Factors For Aggressive Prostate Cancer

    Funder
    National Health and Medical Research Council
    Funding Amount
    $1,592,353.00
    Summary
    Although most prostate cancers are not fatal, some develop into an aggressive form that is likely to progress and kill. How this happens and how to prevent these cancers, is not well understood. The study will examine the lives of men with aggressive prostate cancer, from the time of conception to adulthood, their family history and genetic characteristics to identify the role of life patterns and genes in the development of these cancers, seeking a basis for their prevention .
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    Funded Activity

    A National Case-Control Study Of The Causes Of Childhood Brain Tumours

    Funder
    National Health and Medical Research Council
    Funding Amount
    $1,159,259.00
    Summary
    Childhood brain tumours are the second most common childhood cancer (~20%) after leukaemia (~35%) and are the leading cause of cancer death among children. Children who survive a brain tumour are often left with physical and mental problems as a result of treatment. This can have a significant impact on the child, family and community. Greater understanding of the causes of childhood brain tumours may lead to preventative measures. Most children with brain tumours are very young, suggesting that .... Childhood brain tumours are the second most common childhood cancer (~20%) after leukaemia (~35%) and are the leading cause of cancer death among children. Children who survive a brain tumour are often left with physical and mental problems as a result of treatment. This can have a significant impact on the child, family and community. Greater understanding of the causes of childhood brain tumours may lead to preventative measures. Most children with brain tumours are very young, suggesting that factors to which parents are exposed may affect future children. For this reason, it is important to study the parents as well as the child. This study will investigate environmental exposures known to be harmful, such as parental cigarette smoking and exposure to pesticides and other chemicals. Such exposures are also thought to increase the risk of other childhood cancers like Acute Lymphoblastic Leukaemia. We will also investigate whether dietary factors - including vitamin supplements - in the parents or the child can reduce the risk of a child developing a brain tumour. This study also examines genetic factors which can influence the body's ability to deal with toxins. Some genetic variations, combined with diet and lifestyle factors, may alter the risk of developing some cancers. These interactions need to be examined in greater detail for childhood brain tumours. This national study will examine specific genes and analyse them in conjunction with rigorous assessment of exposures throught to be related to the development of childhood brain tumours. Results obtained from children with brain tumours and their parents will be compared with those from healthy 'control' children and their parents. This is the first study to assess gene-environment interactions in relation to the risk of childhood brain tumours.
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    Funded Activity

    Genetic And Environmental Risk Factors For Colorectal Cancer: Anatomic Site Specificity

    Funder
    National Health and Medical Research Council
    Funding Amount
    $560,000.00
    Summary
    Cancer of the large bowel (colorectal cancer) is the second most common cancer in Australians and is becoming more common. Despite this, there is still much uncertainty about what causes some people to develop this cancer. We believe that some of this uncertainty arises because there are actually different causes of cancer for different sections of the colon and rectum. This study aims to collect information from 1000 people with colorectal cancer and 1000 people without colorectal cancer, and c .... Cancer of the large bowel (colorectal cancer) is the second most common cancer in Australians and is becoming more common. Despite this, there is still much uncertainty about what causes some people to develop this cancer. We believe that some of this uncertainty arises because there are actually different causes of cancer for different sections of the colon and rectum. This study aims to collect information from 1000 people with colorectal cancer and 1000 people without colorectal cancer, and compare various factors such as their genetic makeup, diet, AND lifestyle. We expect to find that some factors are more common in people with cancer in the upper parts of the bowel, while other factors are more common in people with cancer in the lower parts of the bowel. This kind of information can be used to design programs to prevent colorectal cancer. For example, we might advise people to exercise more or eat more fish in order to decrease their chances of developing this cancer.
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    Geelong Osteoporosis Study: Fracture Risk Prediction Based On Twenty Years Of Prospective Data.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $1,107,758.00
    Summary
    In this population-based study we will generate evidence, both environmental and genetic, for defining fracture risk in Australian men and women. This will help identify individuals likely to sustain fragility fractures so that suitable therapies can be recommended. The data will be useful for developing prognostic models in both a clinical setting and for genetic screening programmes.
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    Funded Activity

    Exploiting SNP Data In Epidemiology And Genetics Through Multivariate Analysis Of Complex Traits

    Funder
    National Health and Medical Research Council
    Funding Amount
    $476,981.00
    Summary
    There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to .... There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to a range of important diseases.
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    Funded Activity

    Research Fellowship

    Funder
    National Health and Medical Research Council
    Funding Amount
    $611,574.00
    Summary
    I am a genetic epidemiologist focused on bowel cancer risk. I will develop a comprehensive model to estimate individual cancer risk by studying the effects of personal characteristics, cancer history, genetic factors and family history of cancer using large data sets from international consortia I helped establish. My research will enable targeting of screening to those most at risk and will aid the discovery of new causes for bowel cancer.
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    Funded Activity

    Identification Of A Gene That Increases Risk Of MS Via A Pathway Involving UV Exposure

    Funder
    National Health and Medical Research Council
    Funding Amount
    $111,000.00
    Summary
    Multiple sclerosis (MS) is an auto-immune disease of the central nervous system that affects over 10 000 Australians. It is a progressive debilitating disease that affects predominantly young adults and current therapies are expensive, only moderately effective and are associated with significant side effects. The biological processes leading to this disease are not well understood and there is a need to identify new ways of treating the disease or preventing it. One of the known factors associa .... Multiple sclerosis (MS) is an auto-immune disease of the central nervous system that affects over 10 000 Australians. It is a progressive debilitating disease that affects predominantly young adults and current therapies are expensive, only moderately effective and are associated with significant side effects. The biological processes leading to this disease are not well understood and there is a need to identify new ways of treating the disease or preventing it. One of the known factors associated with MS is the striking association of increased MS incidence with cooler climates and reduced sun exposure. A study conduced by the Menzies Centre has recently provided evidence that increased childhood sun exposure is significantly associated with reduced risk of MS. This project aims to study those genes involved in the body's response to sun exposure as we propose that if sun exposure influences risk of MS then those genes may interact with sun exposure to modify risk of MS.
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    Funded Activity

    Environmental Risk Factors For Iron Overload-related Disease In A Cohort Study Of Hereditary Haemochromatosis

    Funder
    National Health and Medical Research Council
    Funding Amount
    $152,936.00
    Summary
    Results published last year from our Melbourne HealthIron study of hereditary haemochromatosis (iron overload disease) show that almost one third of the 50,000 men genetically at risk of iron overload in Australia will develop symptoms of disease including fatigue, arthritis and liver damage. We will use data from the recent follow-up of the Health2020 cohort, of which HealthIron is a sub-study, to determine environmental risk factors for progression to disease in people with iron overload.
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