Defining the Genomic Basis of Mitochondrial Complex I Deficiency [ 2010 - 2012 ]

Also known as: Genes and energy generation

Research Grant

[Cite as]

Researchers: Prof David Thorburn (Principal investigator) ,  Prof Michael Ryan Dr Stefan White

Brief description 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.

Funding Amount $AUD 639,682.00

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant

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