Advancing the diagnosis and treatment of inherited muscle disorders

Funding Activity

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Funded Activity 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.

Funded Activity Details

Start Date: 01-01-2012

End Date: 01-01-2017

Funding Scheme: Career Development Fellowships

Funding Amount: $408,388.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurology and Neuromuscular Diseases

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

adeno-associated virus | disease pathogenesis | drug therapy | gene mutations | genetic disorders | mouse models | muscle physiology | muscle weakness | myopathy