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Research Topic : genetic syndromes
Scheme : NHMRC Project Grants
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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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    Funded Activity

    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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    Funded Activity

    Cost-effectiveness Analysis Of Systems-based Factors For The Treatment Of Acute Coronary Syndrome

    Funder
    National Health and Medical Research Council
    Funding Amount
    $175,554.00
    Summary
    There is good evidence on the best way to manage patients with Acute Coronary Syndrome (ACS), but uptake of best practice remains limited. Systems-based factors, such as processes to increase use of clinical guidelines, or staffing levels in cardiac wards, may be important. An audit of 400 hospitals in Australia and New Zealand will be used to estimate the costs and benefits of alternative systems-based factors, which will identify the best approaches to improving quality of care for ACS.
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    Funded Activity

    Finding Faults In Human Genetic Instructions That Cause Birth Defects

    Funder
    National Health and Medical Research Council
    Funding Amount
    $133,469.00
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    Funded Activity

    Therapeutic Targeting Of CD40L-Mac-1 In Inflammatory Disease, In Particular Atherosclerosis

    Funder
    National Health and Medical Research Council
    Funding Amount
    $559,642.00
    Summary
    Atherosclerosis is a major burden for human health resulting in myocardial infarction-stroke. We have previously identified a novel interaction between two adhesion molecules, CD40L and Mac-1, which mediates leukocyte adhesion to endothelial cells being a major determinant of atherosclerotic plaque development. We are now developing blocking peptides and recombinant antibodies thereby exploring various anti-inflammatory- anti-atherosclerotic strategies, targeting both Mac-1 and CD40L.
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    Preventing Myocardial Infarction: A Mouse Model Of Atherosclerotic Plaque Instability/rupture As Unique Tool For Establishing Novel Pharmacological Strategies And Targeted Molecular Imaging

    Funder
    National Health and Medical Research Council
    Funding Amount
    $586,965.00
    Summary
    Myocardial infarction strikes without warning and thereby causes death or major disability. It is typically caused by sudden rupture of atherosclerotic plaques and occlusion of coronary arteries. Research on this was hampered by the lack of an animal model of plaque rupture. We have newly established a mouse model, which we will now use to generate novel tools to image and identify plaques that are prone to rupture and to develop novel therapies preventing plaque rupture and myocardial infarctio .... Myocardial infarction strikes without warning and thereby causes death or major disability. It is typically caused by sudden rupture of atherosclerotic plaques and occlusion of coronary arteries. Research on this was hampered by the lack of an animal model of plaque rupture. We have newly established a mouse model, which we will now use to generate novel tools to image and identify plaques that are prone to rupture and to develop novel therapies preventing plaque rupture and myocardial infarction.
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    Funded Activity

    Health-Related Quality Of Life In Intractable Paediatric Epilepsy: Using A New Measure To Improve Management

    Funder
    National Health and Medical Research Council
    Funding Amount
    $252,940.00
    Summary
    Until recently there was no adequate measure to assess the quality of life of children with epilepsy. Our Australian centre was the first to develop, validate and publish such an instrument; the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE). We now aim to collect more data using the QOLCE to gain further understanding of the effects of epilepsy and its treatment on the quality of life of children. We will determine if surgery in children stops seizures and improves quality of life. .... Until recently there was no adequate measure to assess the quality of life of children with epilepsy. Our Australian centre was the first to develop, validate and publish such an instrument; the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE). We now aim to collect more data using the QOLCE to gain further understanding of the effects of epilepsy and its treatment on the quality of life of children. We will determine if surgery in children stops seizures and improves quality of life. We also aim to find out if children with different types of epilepsies have unique quality of life issues. Finally, we aim to determine if the quality of a child's life depends on how well they are thinking and learning or how often they are having seizures. We will conduct this study in children with difficult epilepsy recruited from three major children's hospitals (Sydney Children's Hospital, the Children's Hospital, Westmead, Miami Children's Hospital, Florida USA) using a well designed methodology. Each child will have their particular type of epilepsy characterised using video and brain wave analysis. Each parent and older child will receive a quality of life package including the QOLCE to assess life function. In addition, all children will have an assessment of their thinking and learning by a child psychologist. At the completion of this project we will have established whether surgical treatment in children with epilepsy stops seizures and improves quality of life. This will allow clinicians and parents to better understand the effects of surgical treatment in this population. In addition, we will determine if problems in quality of life are associated with specific types of epilepsy. This information can be used to counsel families and tailor interventions and treatments. Finally, we will know whether a child's quality of life is determined by problems with thinking and learning and-or seizures.
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    Funded Activity

    The Identification Of Genes Involved In Mammalian Craniofacial Development And Disease

    Funder
    National Health and Medical Research Council
    Funding Amount
    $408,055.00
    Summary
    Birth defects arising from abnormal development of the embryo are a major cause of infant mortality and childhood disabilities. On average 3-4% of liveborn babies have a major congenital abnormality, and of the 15-20% of pregnancies which spontaneously abort, many are due to chromosomal or other developmental anomalies. A common feature of many developmental disorders is dysmorphology of the face, suggesting that genes important in patterning the face are also important in the development of oth .... Birth defects arising from abnormal development of the embryo are a major cause of infant mortality and childhood disabilities. On average 3-4% of liveborn babies have a major congenital abnormality, and of the 15-20% of pregnancies which spontaneously abort, many are due to chromosomal or other developmental anomalies. A common feature of many developmental disorders is dysmorphology of the face, suggesting that genes important in patterning the face are also important in the development of other organ systems. During development of the embryo many of the features of the face derive from a series of swellings termed the pharyngeal arches. The complex processes which determine how the face develops are in a large part controlled by the co-ordinated expression of a large number of genes in the first two of the five pharyngeal arch pairs. While we know some of the genes involved in these processes, the precise mechanisms of craniofacial development are relatively poorly understood. In this project we propose a large scale approach to identifying genes involved in development of the mammalian face and to further delineating their role in development and human disease. This approach takes advantage of state of the art genomic technologies available at the IMB and through existing collaborations overseas. In collaboration with Dr Bento Soares (University of Iowa) we have constructed a library containing all of the genes which are expressed in the first two pairs of pharyngeal arches in the developing mouse embryo. Using an approach designed to eliminate all those genes which are expressed in all or most tissues of the body and play a general role in the body's metabolism, we will select for those genes which play a specific and important role in embryonic development. We will then isolate the human counterparts of these genes and more thoroughly investigate their role in embryonic development and disease.
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    Funded Activity

    Neural Aspects Of Human Muscle Fatigue

    Funder
    National Health and Medical Research Council
    Funding Amount
    $331,390.00
    Summary
    Muscle fatigue is common after exercise in healthy people. In many tasks, some muscles become more fatigued than others. Thus, the nervous system must often coordinate fatigued muscles (which produce less force) with unfatigued muscles. We will investigate how fatigue of one muscle alters the way the brain controls other muscles that are engaged in the same task or in unrelated tasks. This will aid understanding of the failures of coordination that lead to poor performance and injury.
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    Funded Activity

    Metabolic Complexes Of The Brush-border Membrane

    Funder
    National Health and Medical Research Council
    Funding Amount
    $295,887.00
    Summary
    Proteins form up to 25% of our diet. The first step in protein absorption is the digestion of protein into smaller units called peptides and amino acids. Both components are subsequently taken up by specialised cells in the wall of the intestine. In this project we plan to study how protein absorption occurs at the surface of these intestinal cells and investigate why this process fails in malabsorption syndromes, where the uptake of amino acids is impaired.
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