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National Centre For Research Excellence In Neuromuscular Disorders: Transforming The Management Of Neuromuscular Disorders From Compassionate Assistance To Targeted Therapy And Prevention
Funder
National Health and Medical Research Council
Funding Amount
$2,805,509.00
Summary
Neuromuscular disorders affect 1 in 1,000 people, often result in progressive muscle weakness and can cause early death. At present not enough is being done to ensure translation of research into improved outcomes for patients. For the first time in Australia, the CRE-NMD will establish an integrated, comprehensive program to investigate diagnosis, prevention and treatment of neuromuscular disorders from infancy to adulthood.
Cellular Effects Of Glucocerebrosidase (GBA) Mutations In Lewy Body Diseases
Funder
National Health and Medical Research Council
Funding Amount
$524,820.00
Summary
Approximately 1 in 100 people are carriers of mutations in the glucocerebrosidase (GBA) gene and are at considerably greater risk of diseases characterised clinically by parkinsonism and by the presence of Lewy body-related pathology. This study will provide tissue-based evidence of the cellular lipid and protein changes relating to Lewy body formation in patients with GBA mutations, providing the information necessary to identify the pathways and mechanisms involved.
Advancing The Diagnosis And Treatment Of Inherited Muscle Disorders
Funder
National Health and Medical Research Council
Funding Amount
$408,388.00
Summary
Inherited myopathies collectively affect ~1 in 1000 people, cause life-long disability and often shortened life. This fellowship addresses two key areas of need. 1. New gene discovery for the inherited myopathies using the latest genetic techniques and 2. developing therapies. I will test two recently developed drugs as potential treatments for tropomyosin myopathies and investigate key areas of disease mechanism for tropomyosin and RYR1 myopathies to identify new therapeutic targets.