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What to Know About the Genetically Engineered Skin That Saved a Young Boy’s Life

3 minute read

A seven year old boy with a rare genetic disease called junctional epidermolysis bullosa received the most extensive skin transplant yet to treat his condition.

The boy was born with a mutation in genes that control the growth and replacement of the outermost layer of skin. Since birth, he experienced severe blisters that would expose inner layers and make him prone to potentially deadly wounds and infections.

Attempts to replace smaller patches with donor skin, including from the boy’s father, failed to treat the condition. With no other options, doctors were focused on simply making him comfortable with morphine until his inevitable death.

But in a paper published in Nature, the boy’s physicians, located at Ruhr University in Germany, report on the early success of an experimental new treatment option, growing enough genetically engineered skin to cover 80% of the boy’s body, from his arms, legs, chest and back.

The researchers learned of the work of Michele De Luca, from the University of Modena and Reggio Emilia in Italy, who took people’s own skin cells, grew them in the lab, and genetically “fixed” them to no longer carry the disease-causing mutation. De Luca had already used the technique to successfully treat one person. Now, De Luca and the German doctors report that they’ve successfully performed an expanded version of the grafting on the little boy, whose name has not been released.

Read more: Scientists Use Stem Cells From Rats To Create First Contracting Muscle

After three extensive surgeries, and nearly a year in the hospital, the boy is now going to school, playing soccer and no longer suffers from blisters on the skin. “He is doing quite well. He doesn’t need ointments, the skin is perfectly smooth and if he gets any bruises, they just heal as normal skin heals,” says Tobias Rothoeft, from the department of neonatology and pediatric intensive care at Ruhr University. “He has never developed blisters where we transplanted him.” The transplanted skin is also growing hair and other skin features that make it nearly indistinguishable from healthy skin.

Read more: Exclusive: Meet the World’s First Baby Born With an Assist from Stem Cells

The key to the process, says De Luca, is getting the right combination of skin stem cells in the graft. Transplanting enough stem cells that have been genetically altered to lack the mutation means that the resulting graft will continue to replenish itself just as normal skin does.

The doctors are cautiously optimistic that their procedure will help other people with the rare skin condition, but it’s not clear whether the technique could be applied as easily to more common skin traumas like burns. “The crucial difference between burns and patients with epidermolysis bullosa is that with full-thickness burns, the receiving bed for the transplant is very bad,” says De Luca. The underlying dermis layer, he says, is so compromised that it’s not clear it would be able to regrow epidermis. In people with junctional epidermolysis bullosa, however, the dermis is still relatively intact.

Read more: Stem Cells Allow Nearly Blind Patients to See

For now, De Luca and his team are working on refining the technology to make the entire procedure more efficient.

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