Doctors couldn’t find a cause for the brain swelling that was killing 15-year-old Joshua Osborne.
Not only were they not able to treat it, there was no solid diagnosis.
In desperation, they took a DNA sample from the boy and ran it through a groundbreaking piece of software on a sequencing machine.
The New York Times reports it took less than 48 hours, and they had their answer. "It was a very exciting phone call to make," University of California, San Francisco Neurologist Michael Wilson said.
“Not only was there an answer, but there was something they could potentially do about it.”
Writing in Genome Research, Wilson revealed Joshua had Leptospira, a deadly, but treatable bacteria.
Large doses of penicillin were given, and today Joshua is doing very well.
Wilson says using DNA sequencing isn’t groundbreaking. Nevertheless, saving a dying patient in real-time certainly is.
Wilson explained the new software dramatically reduced the amount of time it takes for the machine to sort through all the possibilities. However, scientists warn against getting too excited. The widespread use of the technology is still a few years away.