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Postsynaptic Signalling Systems That Sustain The Nerve-muscle Synapse
Funder
National Health and Medical Research Council
Funding Amount
$598,041.00
Summary
Neuromuscular junctions (NMJ) are the synapses through which motor nerves control our voluntary muscle cells. This project will investigate the molecular signalling system between nerve and muscle that helps maintain healthy NMJs. Normal ageing involves a progressive decline in muscle strength, often leading to loss of independence in the elderly. We will use a mouse model to test whether a breakdown of the NMJ signalling system contributes to the loss of strength in old age.
NEU-HORIZONS: The Neuroprotection And Therapeutic Use Of Riluzole For The Prevention Of Oxaliplatin Neurotoxicity Study.
Funder
National Health and Medical Research Council
Funding Amount
$382,402.00
Summary
Colorectal cancer is the second most commonly diagnosed cancer in Australia, with more than 13500 cases recorded annually. Oxaliplatin is an effective chemotherapy for the treatment of colorectal cancer. The major side-effect of oxaliplatin is the development of nerve damage that leads to loss of feeling in the hands and feet and significant disability. The aim of this study is to conduct a trial of a new treatment for oxaliplatin-induced nerve damage.
Clinical Phenotypes And Novel Neurophysiological And Immunological Biomarkers In Inflammatory Neuropathy And Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$83,970.00
Summary
The aim of this project is to define subgroups of inflammatory neuropathies by correlating clinical phenotypes with immunological & neurophysiological profiles. The identification of specific autoantibody markers in patients with inflammatory neuropathies will aid in diagnosis &differentiation from motor neurodegenerative disorders. Identification of prognostic novel biomarkers that predict response to immunotherapy will be invaluable in the clinical setting & allow for better treatment planning
Improving Outcomes For Individuals And Families Affected By Genetic Disease.
Funder
National Health and Medical Research Council
Funding Amount
$838,845.00
Summary
I aim to reduce illness and death caused by inherited diseases, particularly in unborn children, newborns and infants. I will do this by finding causes of inherited diseases we don’t yet know, investigating treatments for inherited diseases and developing better methods of diagnosing inherited diseases. I will also investigate methods of finding carriers of recessive diseases before they have affected children, so that they can avoid having children affected with severe diseases.
Diabetic neuropathy causes severe disability, with pain, loss of sensation and weakness. The current project will assess the utility of a new testing method, known as nerve excitability assessment, as a method of detecting early changes in nerve function in diabetic patients. If this technique proves useful in detecting early nerve damage, it will assist in the development of therapeutic and preventative treatments for neuropathy in diabetic patients.
Translating Innovations In Genomic Medicine For Diagnosis And Treatment For Families With Rare Neuromuscular Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$640,210.00
Summary
Inherited neuromuscular disorders are rare but devastating, affecting a child’s ability to walk or perform activities of daily living, and many are life-limiting. Knowing the faulty gene is vital for families but is often beyond the scope of standard hospital diagnostics. My research uses the latest innovations in genomics to provide a genetic diagnosis for our families, uses cell and animal models to elucidate how diseases occur, and advances new treatments for muscle, heart and brain injury.
To Improve The Diagnosis Of Limb-girdle Muscular Dystrophy Using New Genetic Techniques Of DNA Sequencing Known As Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$101,991.00
Summary
Diagnosis of Limb-girdle muscular dystrophy (LMGD) is complex with only about 50% success rate. New technology, Next Generation Sequencing (NGS) can identify a diagnosis substantially quicker and cheaper than standard methods, however is only available in research. The results of this study will form a core resource that can be augmented in the future to identify rarer forms of LGMD, so that all patients can be provided with a genetic diagnosis.
Neuromuscular Junction Toxicity After Anticholinesterase Pesticide Poisoning And Envenomation.
Funder
National Health and Medical Research Council
Funding Amount
$1,351,392.00
Summary
The study builds on strong existing NHMRC funded collaborative research links between Sri Lanka and Australia in research which have reduced mortality and provided better evidence for treatment of pesticide poisoning. We will study the paralysing effects of acute insecticide poisoning and snakebite on the human nervous system. We aim to determine whether these can be predicted early in the course of the illness and the long term effects. We also aim to see if any particular insecticides cause mo ....The study builds on strong existing NHMRC funded collaborative research links between Sri Lanka and Australia in research which have reduced mortality and provided better evidence for treatment of pesticide poisoning. We will study the paralysing effects of acute insecticide poisoning and snakebite on the human nervous system. We aim to determine whether these can be predicted early in the course of the illness and the long term effects. We also aim to see if any particular insecticides cause more problems than others.Read moreRead less
The Identification Of Novel Genetic Loci And Pathways Associated With ALS Through Interrogation Of Multiple Integrated Genomics Data Sets
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
In 85% of amyotrophic lateral sclerosis (ALS) cases the causative mutation is not known. Here, we will use novel genomics and molecular methods to improve diagnosis and enhance the understanding of severe neuronal degeneration. This includes the characterisation of patient neurons to fast-track genetic discovery with patient-specific treatment assays. We envisage an expanded diagnostic and treatment suite that will provide answers for all ALS patients for whom there is no known genetic cause.