January 9, 2011

DNA Sequencing Saves Life, An Awesome First

DNA Sequencing saves a Life, an awesome first (via Matthew Herper at Forbes)

Since he was a toddler, six-year-old Nicholas Volker’s intestine had been dangerously inflamed, necessitating a hundred surgeries including the removal of his colon. No one knew the cause, but it seemed certain that the boy was dying. In a desperate attempt to figure out what was wrong, doctors at the Medical College of Wisconsin did something desperate and unproven: they sequenced his DNA.

The doctors found a mutation that nobody expected, but that seemed to explain his condition and also dictated a treatment: a bone marrow transplant of cells taken from umbilical cord blood. It’s early to say for sure, but the treatment seems to have worked. 

Photo via JSOnline