Medical miracle: Gene therapy gives boy whole new skin
Using genetically modified stem cells, researchers were able to replace 80 percent of a boy's skin.

By Tracy Williams | 17 hours ago

A seven-year-old boy suffering from a genetic disease that caused most of his outer skin layer to peel away has been saved by researchers who grew him a new skin using his own genetically modified stem cells.

An international team of researchers from Germany, Austria, and Italy report the results in the journal Nature.

The boy has a condition known as junctional epidermolysis bullosa (JEB), a form of a condition also known as butterfly disease. The debilitating disorder is the result of several mutations in proteins affecting the thin layer of skin between the epidermis and dermis.

The defect causes the skin to become very fragile, with resulting blisters and severe peeling that can leave mortal wounds and increase the risk of skin cancer.

"We got this kid transferred in summer 2015 from another tertiary care hospital," explained Dr. Tobias Rothoeft at the Department of Neonatology and Pediatric Intensive Care of University Children's Hospital at Ruhr University Bochum in Germany, in a press briefing, as reported by Medical News Today. "He was admitted there because he had developed an infection in which he rapidly lost nearly two-thirds of his body surface area."

After several treatments failed, the medical team was ready to give up, feeling sure the boy would die. But then, after re-studying the literature, they approached Dr. Michele De Luca, a professor of biochemistry and director of the Centre for Regenerative Medicine "Stefano Ferrari" at the University of Modena and Reggio Emilia in Italy.

Dr. De Luca has spent his career developing therapies for skin and eye conditions. He assured Dr. Rothoeft that he could grow enough skin to heal the boy. To correct the boy's genetic defect, De Luca and his team used a virus to insert a normal copy of the faulty gene into the cells.

After three operations and eight months in the intensive care unit the boy went home with 80 percent of body covered in brand-new skin.

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