grant

Translating innovations in Genomic Medicine for diagnosis and treatment for families with rare Neuromuscular disorders. [ 2018 - ]

Also known as: 5014048

Research Grant

[Cite as https://purl.org/au-research/grants/nhmrc/GNT1136197]

Researchers: A/Pr Sandra Cooper (Principal investigator)

Brief description 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.

Funding Amount $640,210.00

Funding Scheme Research Fellowships

Notes Research Fellowship

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