A CT scan showed signs of disease in the brain of a very ill 5-week-old baby, no doubt similar to what his undiagnosed sister had died of as an infant years before, but the cause was impossible to pinpoint with imaging alone. Remarkably, rapid sequencing identified the baby’s rare disease within hours and even pointed to a life-saving treatment, reports STAT News.
Just a few years ago, there would have been little doctors could do to urgently whittle down that list, even as they raced against the progression of the disease. But this time, the medical team at Rady Children’s Hospital simply ordered up a rapid sequencing of the boy’s DNA.
Less than 36 hours after the boy showed up to the ER, they had their diagnosis: a rare disease called THMD2 that was easily treatable. From the start of the sequencing to the diagnosis, the process took just 13 hours — a figure, unimaginable even a few years ago, that highlights the remarkable progress in sequencing technology and how quickly it can turn around answers.
Read more in reports STAT News.
