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Research Topic : genetic engineering
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  • Funded Activity

    LONGITUDINAL STUDY OF BEHAVIOUR AND EMOTIONAL PROBLEMS IN YOUNG PEOPLE WITH INTELLECTUAL DISABILITIES

    Funder
    National Health and Medical Research Council
    Funding Amount
    $761,790.00
    Summary
    Families caring for young people with intellectual disabilities face major burdens of care if the young person also has serious behaviour problems. These behaviour problems are also costly for our community. This project is intended to assist young people and their carers by providing new information about the factors contributing to these behaviour problems and how they develop over time. The project makes use of an internationally unique follow up study which has followed a group of young peop .... Families caring for young people with intellectual disabilities face major burdens of care if the young person also has serious behaviour problems. These behaviour problems are also costly for our community. This project is intended to assist young people and their carers by providing new information about the factors contributing to these behaviour problems and how they develop over time. The project makes use of an internationally unique follow up study which has followed a group of young people aged 4-18 for the last eight years. The young people are now entering a critical age band facing many changes in their lives such as the possibility of independent living, work challenges, as well as a search for new social relationships and day activities in the post-school period. Also they face increased risk for mental health problems which most commonly emerge in this age group, particularly psychosis and depression. This project promises to determine how the young people cope with these challenges and what steps our community needs to make to assist them and their families to reach an optimal adjustment.
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    A Longitudinal Study Of Psychopathology In People With Intellectual Disability

    Funder
    National Health and Medical Research Council
    Funding Amount
    $999,803.00
    Summary
    This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combina .... This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combination of questionnaire survey and in depth interviews of the young adults and their families or carers to track the course of their mental health. The study commenced in 1990 with nearly 1000 young people with ID aged 4-18 years and their progress has been reviewed every 2-3 years in over 75% of the original group. During the next 5 years we plan to follow their mental health during the critical stage of young adult life. During this time there is the greatest risk of mental illnesses such as depression and schizophrenia and the stresses of adjusting to new daily occupations, independent living or residential care and social contact away from the family. We will be able to study the specific emotional and behavioural problems faced by young adults with the main known causes of ID such as Down, Fragile X, Prader Willi and William Syndromes, as well as those who have autism. The great benefit of a long term follow up study is that it allows us to study the links between earlier family environmental, psychological and biological factors and subsequent mental health problems. We can also demonstrate the impact that mental illness in a young person with ID has on the family and parental mental health. The findings have implications for better diagnosis, improved care and management, early intervention and prevention of these common severe and under recognized mental health problems in this disadvantaged group of young Australians and their families and carers.
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    The Australian Parkinson's Project - Uncovering Genetic Risk Factors For Sporadic PD

    Funder
    National Health and Medical Research Council
    Funding Amount
    $768,546.00
    Summary
    Parkinson s disease (PD) is a progressively disabling movement disorder afflicting many elderly Australians. It is caused by the degeneration of specific nerve cells in the brain that produce certain chemicals and patients suffer from an inability to move fluently (or ultimately at all). At present we do not know what triggers this neurodegeneration, but it is believed that complex interactions between inherited (genetic) and environmental factors contribute significantly to the phenomenon. This .... Parkinson s disease (PD) is a progressively disabling movement disorder afflicting many elderly Australians. It is caused by the degeneration of specific nerve cells in the brain that produce certain chemicals and patients suffer from an inability to move fluently (or ultimately at all). At present we do not know what triggers this neurodegeneration, but it is believed that complex interactions between inherited (genetic) and environmental factors contribute significantly to the phenomenon. This project aims to learn more about these complex interactions and their association with PD. People with PD and unaffected individuals will be recruited from throughout Australia and we will look for specific combinations of genetic, environmental and lifestyle factors that either increase or decrease an individual's risk for PD. This research will identify the most common dominant genetic and environmental influences for PD in Australia, enabling scientists to focus on the most relevant biological pathways to target therapeutically.
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    The Role And Inheritance Of Constitutional Epimutations In Early-onset Colorectal Cancer.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $347,551.00
    Summary
    Traditionally familial cancers are thought to be caused by spelling mistakes within the genetic code of cancer prevention genes. Our group has found that chemical attachments to one gene (MLH1) stops it working, even where there is no spelling mistake, and that those chemical changes can be inherited in families with bowel cancer. We will determine how frequently this type of defect occurs in bowel cancer patients, how and why it arises, and if other cancer genes are similarly affected.
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    Funded Activity

    Regulation Of Secretion Of The Fungal Virulence Determinant, Phospholipase B

    Funder
    National Health and Medical Research Council
    Funding Amount
    $487,500.00
    Summary
    Serious systemic infections due to fungi have increased dramatically in the past few years, especially in people with poorly functioning immune systems. Treatment of these conditions is problematic because the few drugs which are available are not highly effective, and-or cause significant side-effects. Little is understood of how fungi cause disease, and this problem must be addressed if these infections are to be contained. We have discovered that the enzyme, phospholipase B (PLB), is secreted .... Serious systemic infections due to fungi have increased dramatically in the past few years, especially in people with poorly functioning immune systems. Treatment of these conditions is problematic because the few drugs which are available are not highly effective, and-or cause significant side-effects. Little is understood of how fungi cause disease, and this problem must be addressed if these infections are to be contained. We have discovered that the enzyme, phospholipase B (PLB), is secreted by the disease-causing fungus, Cryptococcus neoformans, and that it is important in enabling the fungus to invade the host's cells and spread around the body from the lungs to the brain, where it can cause meningoencephalitis. PLB is also produced by other disease-causing fungi. The mechanism of PLB secretion is completely unknown. In this project we aim to determine the pathways involved in PLB secretion with the intention of exploiting steps unique to pathogenic fungi, for the future design of new anti-fungal drugs.
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