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Research Topic : X linked genetic disorders
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  • Funded Activity

    Neourobiology Of Human Epilepsy: Genes, Cellular Mechanisms,network And Whole Brain

    Funder
    National Health and Medical Research Council
    Funding Amount
    $17,652,824.00
    Summary
    The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. They will continue to identify genes underlying epilepsy and study how genetic variations result in development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.
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    Funded Activity

    Structural Biology Of Cytokine Receptor Signalling

    Funder
    National Health and Medical Research Council
    Funding Amount
    $3,988,996.00
    Summary
    This Program will be focused on a group of protein hormones and their receptors, implicated in blood cell cancers and inflammatory diseases and for which current treatments are inadequate. We will determine the mechanism of receptor activation and in particular will seek to link different forms of receptor assembly to different functions. This information will help us develop new drugs with more specificity for certain hormone functions and thus less side-effects.
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    Funded Activity

    Identifying Determinants Of Both The Origins And The Progression Of The Depressive And Bipolar (mood) Disorders.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $6,235,352.00
    Summary
    Currently, mood disorders are classified by severity, largely ignoring causes and leading to limited treatments. The Team will clarify how differing depressive and bipolar (mood) disorders are best modelled and pursue their differing causes, so assisting identification of specific treatments relating to their underlying causes. Our studies employ a range of sophisticated technologies, including molecular biology, brain imaging techniques, and mathematical modeling. The capacity of such research .... Currently, mood disorders are classified by severity, largely ignoring causes and leading to limited treatments. The Team will clarify how differing depressive and bipolar (mood) disorders are best modelled and pursue their differing causes, so assisting identification of specific treatments relating to their underlying causes. Our studies employ a range of sophisticated technologies, including molecular biology, brain imaging techniques, and mathematical modeling. The capacity of such research to advance the management of mood disorders address a pressing clinical need.
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    Funded Activity

    Emerging Severe Mental Illness In Young People: Clinical Staging, Neurobiology, Prediction & Intervention From Vulnerabi

    Funder
    National Health and Medical Research Council
    Funding Amount
    $6,229,421.00
    Summary
    Mental disorders, such as psychotic and severe mood disorders, are the largest cause of disability in Australia. However, there is still little known about illness onset, relapse and progression. We have developed a clinical staging model with transition points from symptomfree to subthreshold status, to threshold disorder to chronic disability. We will investigate neurobiological and psychosocial factors which increase the risk of progression through these stages and use this model as a basis f .... Mental disorders, such as psychotic and severe mood disorders, are the largest cause of disability in Australia. However, there is still little known about illness onset, relapse and progression. We have developed a clinical staging model with transition points from symptomfree to subthreshold status, to threshold disorder to chronic disability. We will investigate neurobiological and psychosocial factors which increase the risk of progression through these stages and use this model as a basis for examining the effectiveness of interventions, for example to prevent, delay or ameliorate onset and relapse, and promote vocational recovery. Thus major clinical and public health benefits and an understanding of factors that contribute to the onset and progression of illness will result.
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    Funded Activity

    Genetic And Bioinformatic Analysis Of Complex Human Diseases

    Funder
    National Health and Medical Research Council
    Funding Amount
    $8,752,567.00
    Summary
    Some human diseases are common in families; examples include prostate cancer, blood cancers, epilepsy and diabetes. Therefore, close relatives of individuals with a disease have an increased risk of being affected by this disease, implying a genetic basis. Finding the cause of these diseases is difficult, we will be developing novel approaches to the identification of genes responsible for these diseases. This is the first step towards the development of treatments for affected individuals.
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    Funded Activity

    Epidemiology Of Chronic Disease, Health Interventions And DNA Studies

    Funder
    National Health and Medical Research Council
    Funding Amount
    $8,107,547.00
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    Funded Activity

    Molecular Determinants Of Risk, Progression And Treatement Response In Melenoma

    Funder
    National Health and Medical Research Council
    Funding Amount
    $12,947,193.00
    Summary
    Melanoma is a major Australian health problem. It is the third most common cancer in men and women and has a disproportionately heavy impact on productive years of life because it is the common cause of cancer death in younger adults. The investigators are all associated with the Melanoma Institute Australia, incorporating the Sydney Melanoma Unit (SMU). MIA is the world’s largest clinical service dedicated to the treatment of melanoma, treating >1500 new melanoma patients annually and mainta .... Melanoma is a major Australian health problem. It is the third most common cancer in men and women and has a disproportionately heavy impact on productive years of life because it is the common cause of cancer death in younger adults. The investigators are all associated with the Melanoma Institute Australia, incorporating the Sydney Melanoma Unit (SMU). MIA is the world’s largest clinical service dedicated to the treatment of melanoma, treating >1500 new melanoma patients annually and maintains a repository of clinical data on melanoma and a large melanoma tissue bank. The Program has also recruited large numbers of people from the community, as well as people with a strong family history of melanoma, in order to study its causes. It aims to utilise these internationally-recognised resources to develop a scientific basis for 1) improved management of individuals at high risk for development and progression of melanoma, and 2) improved treatment of patients with early and disseminated melanoma, in an era of rapid change in the prospects of successfully treating this dangerous cancer. The Program will do this by consolidating and extending its existing collaborative research, supported by NHMRC since 2006.
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    Funded Activity

    Epidemiological Studies In Maternal And Child Health

    Funder
    National Health and Medical Research Council
    Funding Amount
    $5,917,440.00
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    Funded Activity

    Epilepsy: A Collaborative Research Program From Gemone To Patient

    Funder
    National Health and Medical Research Council
    Funding Amount
    $6,607,142.00
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    Funded Activity

    Molecular Determinants Of Risk, Progression And Treatment Response In Melanoma

    Funder
    National Health and Medical Research Council
    Funding Amount
    $8,381,820.00
    Summary
    Melanoma is a major Australian health problem. NSW figures for 2002 show it to be the second most common cancer in men and women. It has a disproportionately heavy impact on productive years of the life of young Australians because it is the commonest cancer in those aged 15-45 years. The investigators are all associated with the Sydney Melanoma Unit (SMU), the world�s largest clinical service dedicated to the treatment of melanoma, treating >1200 new melanoma patients annually. We have also .... Melanoma is a major Australian health problem. NSW figures for 2002 show it to be the second most common cancer in men and women. It has a disproportionately heavy impact on productive years of the life of young Australians because it is the commonest cancer in those aged 15-45 years. The investigators are all associated with the Sydney Melanoma Unit (SMU), the world�s largest clinical service dedicated to the treatment of melanoma, treating >1200 new melanoma patients annually. We have also recruited large cohorts of individuals with high susceptibility to melanoma, both familial and population-based, throughout southeastern Australia. We aim to utilise these unique, internationally-recognised resources to develop a scientific basis for 1) improved management of individuals at high risk for development and progression of melanoma, and 2) improved treatment of patients with early and disseminated melanoma. We will base this on consolidation of existing collaborative research into molecular predictors of risk, progression and treatment response in melanoma.
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    Showing 1-10 of 19 Funded Activites

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