To the Clinic!

A new study in Science Translational Medicine shows the validity of using DNA sequencing in the clinic to identify rare diseases, reports New Scientist's Wendy Zukerman. Harvard University's Vamsi Mootha teamed up with researchers from the Murdoch Childrens Research Institute in Australia, and sequenced the genomes of 42 children with an unknown mitochondrial disorder. The team looked at the children's mitochondrial DNA and several genes within their nuclear DNA that had been previously linked to mitochondrial diseases, Zukerman says. "To distinguish between harmless genetic variations and those that might cause a disease, the team compared the patients' genomes with databases of genetic variation recorded in the general population," she adds. "Ten of the children had mutations in genes previously linked to mitochondrial diseases, and so could be given a precise diagnosis. Mutations not previously associated with any disease were found in another 13 children." Murdoch's Elena Tucker says most of these illnesses could not have been diagnosed through traditional means.