New way to identify and diagnose Leigh syndrome

Researchers have discovered a new genetic defect that can lead to Leigh syndrome, a rare and potentially fatal neurometabolic disorder that affects the central nervous system.

The findings were made after the researchers – from Melbourne’s Murdoch Childrens Research Institute and Broad Institute of Harvard and MIT – used next generation DNA sequencing technologies to test over 1,000 genes encoding proteins active in the mitochondria in two individuals with Leigh syndrome.