Defining the Genomic Basis of Mitochondrial Complex I Deficiency

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/607403

Funding Status
Closed

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Funded Activity Summary

The human genome project led to new technologies that will revolutionise genetic testing. Previously, we could only sequence genes one at a time. Next Generation sequencing allows analysis of hundreds or thousands of genes simultaneously. We will analyse 90 genes in 100 children with severe disorders of mitochondrial energy generation. This will provide proof of principle for the introduction of this technology into routine medical testing and identify new genes causing these diseases.

Funded Activity Details

Start Date: 01-01-2010

End Date: 01-01-2012

Funding Scheme: NHMRC Project Grants

Funding Amount: $639,682.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Medical Genetics (excl. Cancer Genetics)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

DNA sequencing | genetic testing | inherited metabolic diseases | mitochondrial diseases: infant, child and adult | mitochondrial encephalomyopathies | mitochondrial genetics | molecular diagnostics | molecular genetics | neurogenetics | respiratory chain

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