Advancing Diagnostics for the Congenital Muscular Dystrophies

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1056285

Funding Status
Closed

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Funded Activity Summary

The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatment.

Funded Activity Details

Start Date: 01-01-2013

End Date: 01-01-2014

Funding Scheme: Postgraduate Scholarships

Funding Amount: $69,500.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurology and Neuromuscular Diseases

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

congenital | gene discovery | muscular dystrophy | mutation analysis | phenotype-genotype correlation

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