Improving the genetic diagnosis of neuromuscular disorders

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/GNT1053827

Funding Status
Closed

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Funded Activity Summary

Neuromuscular disorders involve progressive muscle weakness where currently there are no effective specific treatments, and only a diagnostic rate of ~60%; thus emphasising the great need for research into gene discovery and disease mechanisms. The use of genomics technologies can increase the diagnosis rate but challenges still remain. This project aims to address these challenges by developing tools and workflows to improve the diagnostic rate of neuromuscular diseases.

Funded Activity Details

Start Date: 01-01-2013

End Date: 01-01-2018

Funding Scheme: Early Career Fellowships

Funding Amount: $338,836.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Quantitative Genetics (incl. Disease and Trait Mapping Genetics)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

DNA sequencing | bioinformatics | disease gene | genetics | muscle disease

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