'Bubble Boy' Disease Helped By Advances In Gene Therapy

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Sometimes rare diseases allow for scientists to pioneer bold, new ideas. That's been the case with a condition that affects fewer than a hundred babies a year in the US, those babies are born without a functioning immune system and the quest to cure them has led to advances in technique called gene therapy NPR's, Richard Harris reports the disease is called severe combined immunodeficiency or skid met Portia Stanford. Pediatrician says you might be familiar with it. It was made famous I guess in the mid seventies. When the bubble boy was described in in Documenta documentary. And I think he captured the imagination of a lot of people David Vetter spent most of his short life in a plastic bubble to protect him from infection. He died at the age of twelve things have come a long way since then all babies born in the United States are now screened for this. Edition and standard treatment a bone marrow transplant succeeds more than ninety percent of the time when it's done promptly yet. Skit remains a source of great interest to researchers. This is one of those diseases in which probably more doctors and scientists studying the disease than patients who have the disease in the nineteen nineties European scientists actually cured it in some patients. Using gene therapy this technique involves removing defective. Blood cells from a patient inserting, a new gene with the help of a virus? And then putting the cells back into the body, though cells than build up the patient's immune systems, Dr Donald Kohn at UCLA says at first it looked really good and initially twenty patients, they all had immune recovery. But over time five of them went to develop leukemia to scramble to figure out how to inject new genes into cells without triggering that blood cancer, and they're cautiously optimistic they've succeeded since then there have been gradual improvements in the technique the latest advance involving eight infant. Shows that a short dose of chemotherapy helped the new cells take root, the infants ended up with apparently healthy immune systems. I am thrilled to CDs. Outstanding results Eveline among Sasha at Saint Jude's Children's Research Hospital in Memphis is first author of a paper reporting these findings in the New England Journal of medicine to be able to see these babies in my clinic now as toddlers Israeli very rewarding they live normal lives. There are not any different from my daughter's today most children with skid who get a bone marrow transplant also need ongoing treatment, including lifetime injections of antibodies. Jennifer puck a pediatrician at UC San Francisco and a study collaborator says infants who got the newest gene therapy don't need that medication and they're growing. Normally they're getting cold like everybody else, and they take it over infection. So I would say that that is a cure. Of course, she adds that they'll be watched carefully for signs of leukemia and to see if the. Of the therapy are wearing off in her mind. The key is finding these children early through newborn screening before they start to get life threatening infections that had typically been the case. And now we're seeing happy bouncy little newborns. Just look perfectly normal. This is not only good news for those rare families the disease provides a good opportunity for all the scientists to develop even newer, gene therapy techniques, for example, instead of inserting a healthy, gene. Matt Portius at Stanford. His used a powerful gene editing technique called crisper to correct the genetic error in skid blood cells. It works with human cells in a dish. And this really sets the stage than for testing the approach in a clinical trial. Hopefully in the next twelve to eighteen months. All this makes the leukemia setback from the nineteen nineties feel like a fading memory Cohn at UCLA said for more than a decade. It seemed that the field was a dead end. But no more just nice to see. Another success for

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