Disease gene discovery and improved genetic diagnosis in neuromuscular disorders

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1090428

Funding Status
Closed

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Funded Activity Summary

Paediatric nerve and muscle disorders result in weakness, chronic disability and often early death. Over half of all affected children do not yet have a genetic diagnosis. This project will use advanced sequencing technology to increase genetic diagnosis rates and identify new disease-causing genes. This will result in improved patient care and a better understanding of the biological pathways altered by these disorders. It will also facilitate the identification of targets for future therapies.

Funded Activity Details

Start Date: 01-01-2015

End Date: 01-01-2019

Funding Scheme: Early Career Fellowships

Funding Amount: $473,321.00

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

clinical genetics | muscle disease | neurogenetics | neuropathy | spinal muscular atrophy

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