A cohorts-based approach to define monogenic causes of mitochondrial disease

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1068409

Funding Status
Closed

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Funded Activity Summary

New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.

Funded Activity Details

Start Date: 01-01-2014

End Date: 01-01-2016

Funding Scheme: Project Grants

Funding Amount: $824,841.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Genomics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

cohort study | genetic testing | genomics | mitochondrial encephalomyopathies | mitochondrial genetics

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