Translating innovations in Genomic Medicine for diagnosis and treatment for families with rare Neuromuscular disorders.

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/GNT1136197

Funding Status
Closed

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Funded Activity 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.

Funded Activity Details

Start Date: 01-01-2018

End Date: 01-01-2022

Funding Scheme: Research Fellowships

Funding Amount: $640,210.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurogenetics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

diagnosis | genomics | neuromuscular diseases | protein aggregation | vesicle trafficking

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