Advances in mitochondrial disease
In 2011, Australian Doctor published a How to Treat article on mitochondrial disease.1
In the intervening six years, a number of scientific advances have greatly improved the landscape for this genetic disease. In particular, the rapidly decreasing cost of genetic sequencing has enabled a revolutionary shift in the way diagnosis occurs.
This article focuses on a large new study that offers whole genome and whole exome sequencing to patients who are suspected of having mitochondrial