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Research Topic : DISEASE ASSOCIATION
Scheme : NHMRC Project Grants
Australian State/Territory : SA
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  • Funded Activity

    Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies

    Funder
    National Health and Medical Research Council
    Funding Amount
    $490,352.00
    Summary
    Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
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    Funded Activity

    Health, Economic, Psychological And Social Impact Of Educating Carers Of Patients With Advanced Pulmonary Disease (APD)

    Funder
    National Health and Medical Research Council
    Funding Amount
    $605,452.00
    Summary
    Our study aims to understand the health, economic and social costs associated with caring for patients with advanced pulmonary disease (APD) and to determine health, economic and social impact of improving the skills of caregivers of patients with APD has on patients and their carers. Patients with APD are a large population at high risk of health resource use, unnecessary medication use and emergency admission to hospital or residential care facilities. Although previous research has identified .... Our study aims to understand the health, economic and social costs associated with caring for patients with advanced pulmonary disease (APD) and to determine health, economic and social impact of improving the skills of caregivers of patients with APD has on patients and their carers. Patients with APD are a large population at high risk of health resource use, unnecessary medication use and emergency admission to hospital or residential care facilities. Although previous research has identified difficulties experienced by caregivers of the elderly in general, very little research has been undertaken with carers of patients with APD. The study will compare the usual practice of educating patients with APD who commence home oxygen therapy (HOT), and their carers, against a more detailed and individually targeted education program that increases the skills of patients and carers. This study has the potential to reduce hospital-residential care readmission, reduce carer distress, improve patient outcomes, reduce adverse effects of oxygen therapy and medication use, and minimize inappropriate presentation to tertiary care emergency departments.
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    Funded Activity

    A Randomised Controlled Trial Of A Nurse-led Intervention For Less Chronic Heart Failure: The NIL-CHF Study

    Funder
    National Health and Medical Research Council
    Funding Amount
    $1,166,160.00
    Summary
    The overall aim of the unique NIL-CHF Study is to examine the benefits of applying a specialist nurse-led, home and clinic-based intervention to optimise the care of recently discharged hospital patients with heart disease. Involving 950 patients, it will explore whether more flexible and individualised care to apply the best possible medical treatments is able to PREVENT the most deadly and disabling form of heart disease (chronic heart failure - CHF) and save money in the process.
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    Funded Activity

    Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $572,710.00
    Summary
    Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c .... Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.
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    Funded Activity

    Synchrotron X-ray Assessment Of Airway Surface Physiology For Cystic Fibrosis

    Funder
    National Health and Medical Research Council
    Funding Amount
    $778,228.00
    Summary
    We seek a cure or long-lasting therapy for the fatal airway disease in cystic fibrosis. Disease is caused by a shallow and dehydrated airway surface liquid (ASL), allowing bacteria to infect the lung. We can introduce a corrective gene into mouse airways where it can be effective for over 1 yr, but no fast, accurate and non-invasive measurement exists to test if treatments are successful. We will develop methods using synchrotron light to directly measure ASL depth changes in live mouse airways.
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    Funded Activity

    Systematic Expansion Of The Clinical Evidence Base In Opioid Prescribing For Refractory Dyspnoea At The End Of Life

    Funder
    National Health and Medical Research Council
    Funding Amount
    $414,535.00
    Summary
    Morphine can relieve breathlessness in the palliative setting. But many important questions remain. What is the best dose, should the dose change over time, do different medications provide the same relief, and how common is dyspnoea in the general population? This three part project will extend our knowledge to answer these questions. Population data will provide critical background to plan best care for future palliative patients distressed by breathlessness.
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    Funded Activity

    Viscerosensory Neuroimmune Interactions

    Funder
    National Health and Medical Research Council
    Funding Amount
    $567,822.00
    Summary
    The role of the immune system in pain is emerging from recent discoveries, and may hold the key to novel pain treatments. Most people experience brief gut infections from food or contagion without long-term consequences. Many others suffer symptoms for years afterwards - probably the best example of immune-based pain. Our project investigates how immune cells communicate with sensory nerves, and how these communications change from both angles after gut infection or inflammation.
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    Funded Activity

    Transient Receptor Potential Channels (TRPs) As Transducers And Targets In Primary Visceral Afferents

    Funder
    National Health and Medical Research Council
    Funding Amount
    $669,130.00
    Summary
    Transient receptor potential, or TRP channels, are involved in generating many of the sensations we perceive, such as heat, cold, touch and pain. Some TRP channels are specialized to signal pain from visceral organs, which we must investigate if we are to find treatments for visceral pain, which are currently lacking.
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    Funded Activity

    Randomised Double-blind Controlled Trial Of Oxygen Versus Air To Palliate Intractable End-of-life Dyspnoea When Pa02 >55

    Funder
    National Health and Medical Research Council
    Funding Amount
    $463,318.00
    Summary
    Shortness of breath at the end-of-life is one of the most feared symptoms. Unlike most other symptoms, it worsens as death approaches. Despite the fact that more than 50,000 Australian will die an expected death in the next year, of whom the majority will have breathlessness toward the end-of-life, we know little about how best to treat this symptom. Oxygen is frequently introduced but we have not identified whether it is more effective than medical air, and, if it is more effective, which patie .... Shortness of breath at the end-of-life is one of the most feared symptoms. Unlike most other symptoms, it worsens as death approaches. Despite the fact that more than 50,000 Australian will die an expected death in the next year, of whom the majority will have breathlessness toward the end-of-life, we know little about how best to treat this symptom. Oxygen is frequently introduced but we have not identified whether it is more effective than medical air, and, if it is more effective, which patients would most benefit from it. Because of this lack of evidence, oxygen is only funded in Australia in community settings for people who have severely low oxygen levels in their blood. Palliative oxygen is provided on a compassionate basis at times but this is on an ad hoc basis and does not ensure equitable access for people at the end of life who experience shortness of breath. This multi-centre study will compare oxygen and air, with neither the participant nor caring clinicians knowing which treatment they will receive. After careful explanation, volunteers who agree to participate will be asked to use the oxygen machine for at least 15 hours each day for 7 days and fill out a diary twice each day. Five centres across Australia are planning to enroll 240 participants in this study. Outcomes will include whether the sensation of breathlessness has improved, the overall quality of life while being treated, the ability to perform activities of daily living and any side effects experienced. This study is eagerly awaited by clinicians and health planners not only in Australia but in North America and Europe. This study will provide data in a long-standing international debate about the role of oxygen in people with relatively normal levels of oxygen in their blood who suffer from shortness of breath at the end-of-life.
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    Funded Activity

    How Does Inflammation Of The Gut Change Its Sensory Innervation?

    Funder
    National Health and Medical Research Council
    Funding Amount
    $613,767.00
    Summary
    A large number of patients that are referred to gastroenterologists for pain and discomfort from the bowel are offered no effective treatment. This has a large impact on quality of life and often involves invasive tests to rule out inflammatory or cancerous causes. These patients are classified as suffering from irritable bowel syndrome (IBS). Patients who have diagnosable inflammatory bowel disease (IBD) where colonoscopy is positive may suffer similar symptoms but also have no treatment for th .... A large number of patients that are referred to gastroenterologists for pain and discomfort from the bowel are offered no effective treatment. This has a large impact on quality of life and often involves invasive tests to rule out inflammatory or cancerous causes. These patients are classified as suffering from irritable bowel syndrome (IBS). Patients who have diagnosable inflammatory bowel disease (IBD) where colonoscopy is positive may suffer similar symptoms but also have no treatment for this type of symptom. It is becoming apparent that a large subgroup of IBS patients have undergone prior infection or inflammation, and that there are in fact changes in the types of cells in biopsies from their gut. Thus there are common features to IBS and inflammation. These may provide a means for us to find new treatments for IBS and IBD symptoms. Mice develop similar microscopic changes in the colon after experimental inflammation to those seen in humans, so we can discover more from this model. We have recently established that there are several types of sensory nerve fibres from the mouse colon and rectum that convey information about contractions, distension and chemical mediators released from tissue to the central nervous system. These are almost certainly responsible for generating symptoms in patients. We aim in this project to discover how these sensory nerves change in their responsiveness to mechanical and chemical stimuli in experimental inflammation. Importantly we shall investigate the mediators that are present in the tissue which may activate sensory nerves and-or the receptors on sensory nerves that may be increased. These experiments we hope will provide a target at which to aim novel drug treatments for symptoms of IBS and IBD.
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