Mitochondrial Disease in Australian Children – genomics, epidemiology and functional validation
David Thorburn is a Group leader at the Murdoch Children's Research Institute in Melbourne, Australia and co-leads the Mitochondrial Flagship of the Australian Genomics Health Alliance with John Christodoulou. For the last quarter-century his lab has been the major referral centre in Australia for children suspected of mitochondrial disease. Exome sequencing with extended genomic and functional analyses have allowed them to identify molecular diagnoses in about 80% of patients from retrospective cohorts with Complex I deficiency, Leigh syndrome and a population based cohort. Diagnostic yield is lower in prospective cohorts but techniques such as targeted cDNA analyses, synthetic linked read (Chromium) sequencing and quantitative proteomics have aided in validation and discovery of mutations in known and novel disease genes.