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Boy with rare disease gets brand new skin with gene therapy

09 November 2017

"Longer-term follow-up of the child in the current study and other patients will be needed to ensure that there are no adverse consequences - for example, the development of skin cancers", the duo wrote.

People with the condition are sometimes called "butterfly children" because their skin is as fragile as the insect's wings. And even bumps and bruises healed normally. About 1 in every 20,000 babies in the United States are born with the condition, so roughly 200 children each year.

Doctors thought the boy would also perish, says Tobias Hirsch, a plastic surgeon at Ruhr University Bochum in Germany who helped care for him.

As reported by Science Alert, a 7-year-old boy was admitted to a hospital burns unit in Germany in 2015 due to the fact he had lost almost 80 percent of the skin on his body to JEB.

He said the child was using a home trainer and playing football.

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

The boy's parents asked about experimental treatments, and De Luca and his colleagues were contacted.

"Once you have regenerated the epidermis, the stem cells keep making the renewal of the epidermis as in a normal [healthy person]", said De Luca.

About 80 per cent of his skin was replaced overall. There, he genetically modified them so that they no longer contained the mutated form of a gene known to cause the disease and grew the cells into patches of genetically modified epidermis.

Scientists reported Wednesday that they genetically modified stem cells to grow skin that they successfully grafted over almost all of a child's body - a remarkable achievement that could revolutionize treatment of burn victims and people with skin diseases. After one more surgery to replace small patches of skin, he was released from the hospital in February 2016. The dermis is what the researchers called an ideal receiving bed for the lab-grown skin. Doctors are carefully monitoring the child for any signs that there may be some cells that were not corrected and that the disease may re-emerge, but right now that does not appear to be happening in the transplanted areas.

"He went back to normal life, including school and sports". His new skin is fully functional. Though they are few in number, the stem cells continue to replicate and produce new cells that become part of the skin's upper layer. But researchers can't take many samples of his skin to find out.

"If we think about the experience we have in the burns, I would say that this epidermis would stay basically forever", he says. "He's not a mouse".

"This report is a major biomedical triumph, combining gene therapy and stem cells", said Eric Topol, a geneticist at Scripps Research Institute who was not affiliated with the study.

Treating Hassan has provided useful scientific information that improved understanding of how skin was regenerated and maintained, said the scientists.

One possibility is that a large number of stem cells populate the skin.

Observing these stem cells at work also helped clear up a mystery about how the skin functions.

It is a breakthrough that not only signals a potential curative treatment for a painful, heartbreaking disease, but demonstrates the great power that new technologies like gene therapy and stem cells may hold to address genetic conditions previously written off as hopeless. The 7-year-old boy was an extreme case.

JEB is caused by mutations in the genes LAMA3, LAMB3 and LAMC2 which affect the production of a protein called laminin-332.

"Skin diseases are well suited for gene therapy since the tissue is directly accessible", Topol told Gizmodo. Regardless, De Luca's success may pave the way for others to look into similar treatments and ways to create modified skin. At first, his skin was a patchwork of skin cells, with about 91 percent of progenitor cells having different insertions than the holoclones.

While progenitor cells live for just months, the researchers found, holoclones last a person's lifetime.

Boy with rare disease gets brand new skin with gene therapy