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Research Topic : Pendred Syndrome
Australian State/Territory : VIC
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Epigenetics (incl. Genome Methylation and Epigenomics) (2)
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  • Funded Activities (21)
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  • Funded Activity

    Mechanisms Of Tolerance And Immunity In Systemic Rheumatic Diseases

    Funder
    National Health and Medical Research Council
    Funding Amount
    $277,787.00
    More information
    Funded Activity

    The Fetal And Early Childhood Origins Of PCOS: A Prospective Cohort Study

    Funder
    National Health and Medical Research Council
    Funding Amount
    $499,116.00
    Summary
    The Polycystic Ovary Syndrome (PCOS) affects up to 10% of women of reproductive age, which translates into around 350,000 women in Australia. It is the most common hormonal disorder in women. The syndrome has far-reaching adverse implications for general and reproductive health, including menstrual disorder, obesity, infertility, miscarriage, pregnancy complications, increased risk of diabetes and possibly heart disease. PCOS also commonly causes cosmetic problems such as excess body hair and ac .... The Polycystic Ovary Syndrome (PCOS) affects up to 10% of women of reproductive age, which translates into around 350,000 women in Australia. It is the most common hormonal disorder in women. The syndrome has far-reaching adverse implications for general and reproductive health, including menstrual disorder, obesity, infertility, miscarriage, pregnancy complications, increased risk of diabetes and possibly heart disease. PCOS also commonly causes cosmetic problems such as excess body hair and acne. The underlying causes of PCOS are not known but are thought to arise during intrauterine (fetal) life and to be modified by aspects of childhood health, particularly overweight and obesity. Using a large and well established cohort of adolescents followed up since fetal life and throughout childhood and currently aged 13-15 years old (the Raine cohort), we will define for the first time the intrauterine and early childhood correlates of PCOS. PCOS will be diagnosed by a specialist gynacologist using current international criteria. We will then utilise extensive existing data from this cohort combined with new measurements on existing samples to determine the contribution of key factors including fetal growth restriction, low birth weight, fetal androgen exposure, rapid postnatal growth, childhood adiposity, elevated fasting glucose and insulin and age at menarche to PCOS. In this way, we will address for the first time the hypothesis that PCOS arises as a result of events during fetal life and is affected by factors during childhood. The results from these studies will improve our understanding of PCOS and eventually improve reproductive and metabolic health for a substantial population of women internationally. It is essential that these studies are conducted as soon as possible or the opportunity will be missed. Girls with persistent menstrual irregularity are likely to be commenced on hormonal treatments which will make the diagnosis of PCOS impossible.
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    Funded Activity

    Improving Physical Health Outcomes For Young People With Psychotic Disorders

    Funder
    National Health and Medical Research Council
    Funding Amount
    $189,384.00
    Summary
    Enduring psychotic disorders are associated with a reduced life expectancy by 25 years, which is mainly due to cardiovascular disease. This project will produce a training package that will improve clinician’s skills and knowledge of screening and treatment for physical health risk factors in young people with psychosis. This project will result in the development of an intervention for reducing the prevalence of these cardiovascular risk factors known to contribute to this early mortality.
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    Funded Activity

    Autoimmunity To Nuclear Antigens

    Funder
    National Health and Medical Research Council
    Funding Amount
    $298,988.00
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    Funded Activity

    The Management To Optimise Diabetes And MEtabolic Syndrome Risk Reduction Via Nurse-led Intervention (MODERN) Study

    Funder
    National Health and Medical Research Council
    Funding Amount
    $1,445,861.00
    Summary
    There is increasing recognition of society’s responsibility to provide effective and sustainable health care to the entire population and not just selected parts. This practical study will test the impact of a nurse-led, multidisciplinary prevention program to reduce the risk of future cardiovascular events in middle-aged individuals at a high risk of developing cardiovascular disease (CVD) living in regional Australia.
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    Funded Activity

    Novel Fragile X Syndrome Prevalence Estimates In 100,000 Australian Newborns, Prognostic And Health-economic Outcomes: A Retrospective Newborn Screening Study

    Funder
    National Health and Medical Research Council
    Funding Amount
    $769,866.00
    Summary
    Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.
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    Funded Activity

    Uncoupled Research Fellowship

    Funder
    National Health and Medical Research Council
    Funding Amount
    $190,949.00
    Summary
    I am an integrative biologist studying the interaction between cytokines, fatty acid metabolism and insulin resistance.
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    Funded Activity

    Targeting The Sympathetic Nervous System To Reduce The Burden Of Fatty Liver Disease

    Funder
    National Health and Medical Research Council
    Funding Amount
    $728,152.00
    Summary
    The metabolic syndrome is characterised by abdominal obesity, high blood pressure and an increased risk of diabetes development. It is clear from our own observations that the sympathetic nervous system (SNS) is important in the generation of obesity-related illness and, through its stimulation of the liver, plays an important role in the development of obesity-related liver disease. We will target the SNS in order to reduce the burden of obesity-related liver disease.
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    Funded Activity

    Significance Of Low-level Mosaicism To Intellectual Disability In Paediatric Disorders

    Funder
    National Health and Medical Research Council
    Funding Amount
    $483,402.00
    Summary
    My vision for the next 4 years is to improve outcomes for children and their families with inherited disorders associated with intellectual disability (ID) and autism through earlier diagnosis and intervention. This is of great importance with annual costs of ID close $14.72 billion to the Australian health system, and missed or delayed diagnoses being a significant problem, as ID is found in 1.7% of births, where a specific cause is currently identified in less than half.
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    Funded Activity

    GABA(B) Receptor Modulation Of Gastrointestinal Function In Health And Disease By Alpha-Conotoxins

    Funder
    National Health and Medical Research Council
    Funding Amount
    $689,050.00
    Summary
    Chronic visceral pain is a common and debilitating condition arising from numerous diseases that affect our internal organs. There is a desperate need for more information about the mechanisms responsible for signalling chronic visceral pain to provide therapies and potentially find a cure for it. Our research focuses on ?-conotoxins (small peptides from marine cone snail venom) as novel potential therapeutic agents for the treatment of chronic visceral pain.
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    Showing 1-10 of 21 Funded Activites

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