I am a biochemical geneticist working on the genetics and pathogenesis of mitochondrial energy generation disorders. I have a particular focus on the severe mitochondrial diseases of childhood but am also studying mitochondrial involvement in common disor
Defining The Genomic Basis Of Mitochondrial Complex I Deficiency
Funder
National Health and Medical Research Council
Funding Amount
$639,682.00
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.