Mitochondrial disease (MD) is the most common type of inherited metabolic disease in Australia, affecting about one in 500 births. It can present at any age, affecting children and adults, in any organ, with a wide spectrum of symptoms ranging from mild chronic disease to acute severe episodes or fatal illness. Due to its clinical variability and complexity, MD is often difficult to diagnose and usually requires a complex array of clinical investigations, metabolic screening and muscle (or liver) biopsy.
We have developed mity, a toolkit for identifying and characterising mitochondrial variation from Whole Genome Sequencing. We have been using mity, and ClinSV (CNV and SV detection) to study the extent to which WGS can be used to diagnose patients with MD, from blood, or other clinically relevant tissues. This research is a collaboration with Professor Carolyn Sue (Kolling Institute), Dr Ryan Davis (Kolling Institute), and Professor John Christodoulou (MCRI).