A simple skin sample can now diagnose a disease that once needed surgery

For families chasing a diagnosis for mitochondrial disease — a group of genetic disorders that starve the body's cells of energy — the road often ran through a painful muscle biopsy. An international study published in the peer-reviewed journal EMBO Molecular Medicine has now validated a gentler path: diagnosing the disease from cells in a simple skin sample. The approach is already available through Children's Colorado's diagnostic laboratory, one of the largest of its kind in North America.