Diagnosing hereditary myopathies and dystrophies with RNA sequencing: translating research innovations into diagnostic practice

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1194633

Funding Status
Status not available

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Funded Activity Summary

Despite recent advances in genetic testing, more than 50% of patients with hereditary neuromuscular disorders remain undiagnosed. This project aims to apply an alternative and the newest form of Next Generation Sequencing (NGS) testing strategy known as transciptome or RNA sequencing to clinical practice to further investigate patients who have remained undiagnosed despite WES and WGS.

Funded Activity Details

Start Date: 01-01-2020

End Date: End date not available

Funding Scheme: Investigator Grants

Funding Amount: $279,725.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

ANZSRC Socio-Economic Objective (SEO)

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Other Keywords

genetic disorders | muscular dystrophy | rna | sequencing

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