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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.
Amyotrophic Lateral Sclerosis (ALS) is a progressively fatal neurodegenerative disease characterized by aggregates of a protein called TDP-43. ALS also features the presence of several inflammatory cytokines in the central nervous system. In this project, we will study how TDP-43 abnormally mislocalizes within cells, releasing mitochondrial DNA and triggering a novel pathway of inflammation. We propose that targeting this pathway could lead to new treatments for ALS.
Characterisation Of Eating Behaviour And Metabolic Phenotypes Across Neurodegenerative Diseases: Insights For Survival And Progression
Funder
National Health and Medical Research Council
Funding Amount
$340,891.00
Summary
It has been suggested that metabolic changes and eating behavior could modify the progression of neurodegeneration. This research aims using brain imaging, pathological examination and novel techniques from obesity research to examine if there are characteristic metabolic changes in patients with frontotemporal dementia, Amyotrophic lateral sclerosis and Alzheimer’s disease; how these changes relate to eating behavior, and how they may affect disease progression and survival.
Unravelling The Molecular Basis Of Amyotrophic Lateral Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$342,325.00
Summary
The only known causes of ALS are gene mutations. State-of-the-art technologies will be used to find genetic causes of ALS to add to existing diagnostic testing and facilitate investigation into disease mechanism. ALS patients experience different disease courses, with variable age of onset, progression and duration of disease even among those with identical gene mutations. We will examine a well-characterised ALS patient cohort with differing disease manifestations to identify disease modifiers.
Pathophysiology Of ALS: Evidence To Support The Dying Foward Hypothesis
Funder
National Health and Medical Research Council
Funding Amount
$49,471.00
Summary
Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressive, uniformly fatal, neurodegenerative disorder with peak age of onset for the common sporadic variant of the disease being in the middle productive period of 50-60 years. The current research project aims at clarifying the site of onset of disease within the motor system, specifically, the primacy of the corticomotorneuron in pathogenesis. This knowledge would be valuable in targeting interventions which modify disease progression.
Targeting Autophagy To Improve Protein Metabolism In ALS
Funder
National Health and Medical Research Council
Funding Amount
$586,001.00
Summary
One common feature of MND is the accumulation of protein deposits inside nerve cells which leads to their death. We have identified a potent drug which enhances autophagy, a protective process which breaks down protein deposits inside cells. We have shown that this autophagy enhancer efficiently clears protein deposits linked to MND in the Petri dish. We propose to treat MND mice with this autophagy enhancer and predict that it will slow disease signs, preserve lifespan and protect nerve cells.
IS THERE A ROLE FOR ENDOPLASMIC RETICULUM STRESS IN THE PATHOGENESIS OF ALS?
Funder
National Health and Medical Research Council
Funding Amount
$535,710.00
Summary
Motor neuron disease (MND) is a devastating and rapidly progressing adult onset disease; most patients die 2-5 years after diagnosis. MND is characterized by the death of specific cells, called 'motor neurons' within the nervous system. Unfortunatley, MND currently has an unknown cause and no effective treatment. This proposal aims to study the mechanisms that trigger degeneration of motor neurons in MND. Some forms of MND are inherited and linked to mutations in a protein called SOD1, but how t ....Motor neuron disease (MND) is a devastating and rapidly progressing adult onset disease; most patients die 2-5 years after diagnosis. MND is characterized by the death of specific cells, called 'motor neurons' within the nervous system. Unfortunatley, MND currently has an unknown cause and no effective treatment. This proposal aims to study the mechanisms that trigger degeneration of motor neurons in MND. Some forms of MND are inherited and linked to mutations in a protein called SOD1, but how the mutations lead to cell death is unclear. However, SOD1 mutants are known to clump together in large aggregates and this is linked to toxicity. In a previous study, we found that normally SOD1 is secreted from the cell where it can protect the motor neuron from oxidative damage. However SOD1 mutants are not secreted as well as the normal protein, leaving the cell vulnerable to damage. In addition, the compartment of the cell responsible for secretion,the 'endoplasmic reticulum' (ER), is under stress due to secretory dysfunction of mutant SOD1. Our data suggest that this ER stress leads to the activation of 'cell suicide' pathways, leading to death of the motor neuron. However, very little is known about how molecular events in the ER lead to cell death in MND. This proposal will examine these processes in detail. In other studies, we found that a molecule called 'PDI' inhibits mutant SOD1 from aggregation and is made in large quantities in our laboratory models of MND. This proposal will determine if PDI is potentially a new therapeutic target for MND due its ability to protect the cell from the toxic effects of SOD1 aggregation. Our findings are both novel and exciting and propose previously unexplored mechanisms of disease and new theraputic targets. Once we understand the basic mechanisms occuring in the motor neuron, which we can design specific therapies to halt the progression of the disease and prolong the life of human MND patients.Read moreRead less
Harnessing The Consequences Of Impaired Mitochondrial Function To Treat And Image Motor Neuron Disease
Funder
National Health and Medical Research Council
Funding Amount
$473,477.00
Summary
Motor neuron disease (MND) is a group of fatal adult-onset diseases affecting the neurons that relay signals from the brain to muscles. The incidence of MND is rapidly increasing due to the ageing population and a diagnosis of MND comes with a prognosis of paralysis and 2-5 years survival. The diagnosis process is lengthy, and even after MND is confirmed, there are no effective therapeutics. This research project aims to develop new therapeutic and diagnostic options for MND.
The Role Of Excitotoxicity In Mediating Distal Axonal Degneration In ALS
Funder
National Health and Medical Research Council
Funding Amount
$392,952.00
Summary
Amyotrophic lateral sclerosis (ALS), the major cause of motor neuron disease, is a devastating diseasse for which there is no cure. There have been significant advances in understanding the pathology of ALS yet we still don’t know what causes the dying back of spinal motor neurons. We have new evidence that suggests that ALS may, in part, be caused by excitotoxcity - or over stimulation - of neurons in the spinal cord. We will follow this lead using a range of cutting edge experimental models.
Electrophysiological And Neuroimaging Evaluation Of C9ORF72 Related Amyotrophic Lateral Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$224,786.00
Summary
Amyotrophic lateral sclerosis (also known as Motor Neuron Disease) is a rapid and fatal neurological condition. To date there is no consensus on where the disease process may start. We will study healthy carriers who carry the most common ALS gene mutation and follow them over a four year period and track the associated changes. We will be using specialized neurophysiological tests to evaluate these patients and we hope to localize where the initiating problem with ALS patients may start.