Advances in mitochondrial disease

Diagnostic developments over the past six years have improved the landscape for 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