Breakthrough DNA Test Saves Boy in 48 Hours
New software sifts through DNA sample to make quick diagnosis
By John Johnson, Newser Staff
Posted Jun 4, 2014 7:39 PM CDT
   (Shutterstock)

(Newser) – A 15-year-old boy is alive thanks to a diagnosis that sounds like it’s from a sci-fi novel. Doctors took a DNA sample from Joshua Osborn—whose brain was swelling with fluid for reasons that had doctors stumped—ran it through DNA-sequencing machines, and let the software work its magic, explains Carl Zimmer of the New York Times. Within 48 hours, doctors had their answer: Joshua had a lethal form of bacteria called Leptospira. And while it’s lethal, it’s also treatable. Heavy doses of penicillin did the trick.

"It was a very exciting phone call to make," says neurologist Michael Wilson of the University of California, San Francisco, who co-authored a new paper in Genome Research about the case. The concept of using DNA sequencing to diagnose illness isn't new, but it's never before been used to cure a dying patient in real time. It takes time to work through millions of pieces of DNA, but the new software speeds up the process dramatically. It zeroes in on DNA in the patient's sample that belongs to pathogens, then compares those fragments to online databases. The breakthrough holds great promise, but it's thought to be years away from normal use. Read the full story.

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Showing 3 of 27 comments
Jon Q. Publix
Jun 6, 2014 12:39 AM CDT
DNA is the mechanism by which evolution operates. This fundamental concept is deeply engrained in modern medicine. Science deniers who don't "believe" in this shouldn't be afforded the benefits it provides.
No-Left-Turn
Jun 5, 2014 4:53 PM CDT
Medicine has to rely on computers far more than it does. The human mind simply cannot explore all the options as well as a fully programmed computer and data base. I often read of someone suffering from some terrible disease that others have already cured. The best and most recent example is necrotizing fasciitis, or flesh-eating disease. People are still losing limbs or dying from this terrible disease, while a doctor and company in California have worked together on a successful treatment. His patients have all lived and not lost a single limb. We need some doctors to be less arrogant and to use computer searches to aid them.
The_Totax
Jun 5, 2014 9:58 AM CDT
and then he thanked god and not the doctors