Gene-Tweaked Skin Grafts Save Boy's Life

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Nov. 9, 2017 --  Experimental genetically-corrected skin grafts used on 80 percent of a boy's body saved his life, doctors say.


The 7-year-old boy in Germany had a rare genetic condition that affects development of a membrane in the top layer of skin (epidermis). People with the incurable condition, called epidermolysis bullosa, are at high risk for infections and skin cancer and many die before age 30, NBC News reported.


An infection had destroyed most of the boy's skin and he was dying in agony. He had received skin grafts from his father but the grafts did not last.


Skin grafts from other people usually fail in patients with epidermolysis bullosa because of the genetic defect that affects how the skin grows.


The doctors at Children's Hospital at Ruhr University in Bochum, Germany decided to get help from experts across Europe in order to perform experimental skin grafting. The medical team removed some non-damaged skin from the boy and used a virus to carry a corrected version of the genetic defect into his skin cells, NBC News reported.


Grafts of the corrected skin were grown and used to replace the boy's missing skin in three separate operations. The grafts took hold and grew, according to the case report in the journal Nature.


The effort was led by Dr. Michele De Luca of the University of Modena in Italy.


The boy "was discharged from the hospital in February 2016," De Luca told reporters in a telephone briefing, NBC News reported.


"His epidermis is currently stable and robust, and does not blister, itch, or require ointment or medications," the graft team wrote. "The child returned to regular elementary school in March 2016."


"The amount of coverage that (the team) was able to achieve on this patient and the impact that this has had on the patient's life is really incredible," Stanford University's Dr. Peter Marinkovich, who also uses skin grafts to treat similar patients, told NBC News.


"It shows the promise of what we are doing," he added.

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