Scientists and physicians use genetic sequences to identify and treat unknown disease

[Modbert]

Medical Daily: Scientists and physicians use genetic sequencing to identify and treat unknown disease

Scientists and physicians use genetic sequencing to identify and treat unknown disease

A collaborative team of scientists and physicians at the Medical College of Wisconsin and Children's Hospital of Wisconsin uses genetic sequencing to identify and treat an unknown disease.

For the one of the first times in medical history, researchers and physicians at The Medical College of Wisconsin and Children's Hospital of Wisconsin sequenced all the genes in a boy's DNA to identify a previously-unknown mutation. The team was able not only to identify the mutation, but to develop a treatment plan using a cord blood transplant, and stop the course of the disease.

"Exhaustive efforts to reach a diagnosis revealed numerous abnormalities in Nick's immune system, but none pointed to a specific disease," Dr. Mayer explained. "So we decided the next logical step was to sequence his entire exome."

Researchers examined all 20,000 of his genes looking for the cause of this rare disease. After three months poring over data, the researchers identified a unique mutation in one gene. They confirmed that mutation to be responsible for Nick's previously-undocumented form of bowel disease, which is part of a broader XIAP deficiency.

The team then performed a blood cord transplant in June using stem cells from a matched, healthy donor. Five months later, Nick is home and eating a healthy diet for the first time.

This is quite awesome and as is the amount of potential here.

 

[eagleseven]

I'm not sure how cord blood could be used for treatment...but I suspect he will need said transfusions of the rest of his life.