[Cite as http://purl.org/au-research/grants/nhmrc/607403]
Prof David Thorburn
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
Standard Project Grant