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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.
Viral Therapy For Skeletal Muscle Alpha-actin Disease And Discovery Of Novel Neuromuscular Disease Genes And Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$324,028.00
Summary
This research project is the next logical step towards treating patients with skeletal muscle actin disease - using viral delivery of normal actin genes in animal models of actin disease. Another arm of this project is to investigate the genetics and mechanisms causing two very different groups of muscle disorders in the Australian population: devastating muscle weakness in the foetal akinesias and enhanced muscle strength and bulk in individuals with strongman syndromes.
Patients With Obstructive Sleep Apnoea And Motor Control
Funder
National Health and Medical Research Council
Funding Amount
$302,798.00
Summary
Obstructive Sleep Apnoea is a major health concern, affecting at least 4% of the population, associated with obesity, and aging. The symptoms of sleep apnoea are definitively associated with cardiovascular complications. I am focused on understanding how sleep apnoea patients are remodelled with the rewiring of connections between the brain and muscles. Using neurophysiological techniques, this project will study how the anatomy and functional connections of circuits change with sleep apnoea.
Peptide Conjugates Of Splice-correcting Oligonucleotides For Enhanced In Vitro And In Vivo Delivery For Neuromuscular Disease Therapy.
Funder
National Health and Medical Research Council
Funding Amount
$332,347.00
Summary
Currently, there is no known cure for certain neuromuscular genetic disorders. However, recently identified synthetic DNA-type biomolecules have shown promising results in reversing such diseases in mice. These biomolecules cannot easily enter the cells in high enough quantity to elicit their beneficial effects. Therefore, this project will aim at identifying novel vecotrs that, when coupled to these biomolecules, are capable of delivering them into specific cell types as well as into the brain.