Transforming the diagnosis of mitochondrial disorders using high-throughput sequencing, functional prediction and experimental validation

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1023619

Funding Status
Closed

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Funded Activity Summary

The human genome project sparked enormous improvements in our ability to sequence DNA. “Next Generation” DNA sequencing can potentially sequence an individual’s entire genome in a week and has the ability to transform the diagnosis of inherited diseases but is as yet unproven in a medical genetics context. We will develop and validate the use of Next Generation sequencing to enable the rapid sequencing of over 1000 genes in which mutations cause inherited metabolic diseases.

Funded Activity Details

Start Date: 01-01-2012

End Date: 01-01-2014

Funding Scheme: Project Grants

Funding Amount: $670,794.00

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

genetic testing | genomics | metabolic disorders | mitochondrial disease | mitochondrial genetics

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