Doctors replace boys skin using breakthrough gene therapy …

By raymumme

In a breakthrough treatment, researchers at a burn unit in Europe found a way to replace 80 percent of a boys skin using a combination of gene therapy and stem cells. The grafted skin attached to his body has continued to replace itself, even months later.

The patient - a boy who was 7 years old at the time of the treatment - was born with a rare skin condition called junctional epidermolysis bullosa. The condition causes the outer layer of the skin to peel away easily from the lower skin layers, making it incredibly fragile and prone to injury.

This is a very severe, devastating disease, where kids suffer a lot, said Dr. Michele De Luca, one of the authors of the research.

Experts not involved in the research have said this successful grafting treatment is a big step for those suffering from genetic skin conditions like this one.

This is really quite exciting, to have this translation for these patients, said Dr. Dennis Orgill, medical director of the Brigham and Womens Hospital Wound Center in Boston, who was not involved with the study. "That they can do these genetic manipulations and then have a long term result, which theyve demonstrated here, is a major breakthrough."

In this case, the treatment may have been lifesaving. The patient arrived at the hospital with a life-threatening bacterial skin infection spread over much of his body. Over the following weeks, his doctors tried everything they could to treat him without success.

Out of options, his treatment team was preparing to start end-of-life care when his parents pleaded with them to try an experimental therapy.

Surgeons in Germany took a sample of the boys skin, less than one square inch in size, that was unharmed by the bacterial infection. In a lab, researchers infected the skin biopsy with a virus specially designed to alter the genetic code within the skin cells, correcting the mutation responsible for his fragile skin. The researchers "grew" the skin and used it to surgically replace the patients blistered and destroyed skin.

After 21 months, the new skin is regenerating itself without problems and has been resilient; it can hold up to normal wear much better than his original skin.

While this result only applies to one rare skin disorder right now, experts said the approach could be used more widely for other diseases in the future.

We are running other clinical trials on other kinds of junctional epidermolysis bullosa," De Luca said. "In the future, it could be applied to other genetic diseases of the skin.

Researchers hope that it could help other people with seriously damaged skin in the future, too.

This technology could be extended into other patients with genetic conditions, or patients with extensive burns, Orgill said.

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