Published: Sun, November 12, 2017
Medicine | By Brett Sutton

Scientists save child's life by growing him new skin

Scientists save child's life by growing him new skin

People with the disease lack critical proteins that attach the outer layer of the skin to the inner layer, resulting in fragile skin with nearly constant blisters and open sores.

Brave Hassan was admitted to hospital close to death from junctional epidermolysis bullosa, which causes skin to blister and tear at the slightest touch.

So they "studied the literature" and came across the work of Michele de Luca, a regenerative medicine expert in Modena, Italy. As a last resort, the team sought the help of Italian scientists who had pioneered a technique to regenerate healthy skin in the laboratory - but had never attempted to use it for such an ambitious case. But after almost a decade of filing paperwork and improving his skin cell production system, De Luca was ready to try.

What the researchers did: The team of scientists took a small biopsy from the part of the boy's skin without lesions, genetically corrected the LAMB3 gene, and grew a transgenic epidermal graft that contained a mix of stem cells (holoclones) and two other cell types: paraclones and meroclones. The modified stem cells were then grown into transgenic skin transplants.

Before undergoing surgery, the boy had lost 80% of his skin, leaving him covered in untreatable, infected wounds.

While the boy will receive regular checkups to assess for any problems, as of now, "he's back to school, he's exercising, he's started to play's quite unbelievable", De Luca says. He was sent to the burn unit at the Germany's Children's Hospital at Ruhr University.

A year later, the boy proudly showed off his skin to students and researchers in De Luca's lab.

"After almost two months we were absolutely sure that we could do nothing for this kid and that he would die", Rothoeft told journalists ahead of the study's publication in the journal Nature.

"Both theories were valid, but what had been lacking was real proof in vivo, in patients", says Aiuti.

Scientists in Italy grew a multiple patches of skin to help German doctors in curing a child of a previously incurable disease due to genetic issues.

The skin contains its own supply of specialised stem cells, which allows the epidermis to be constantly renewed throughout our lives, with cells turning over roughly every month.

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

Some unusual pigmentation remains on the boy's skin because of the earlier damage. "When we engrafted him he was 17 kilograms [37 pounds]", he adds.

Now the boy had "good quality" skin that was "perfectly smooth and quite stable" and required no treatment with special ointments. The boy has no scarring, because his disease was literally only skin-deep.

The genetically modified cells in the graft include specialised skin stem cells that meant once the transplant was integrated it was able to renew and sustain the healthy skin. "To replace and gene-correct the whole skin of a patient is just awesome". The cause was a mutation in the gene encoding laminin b3-an extracellular matrix protein that controls, among other things, the anchoring of epidermal cells. But, says De Luca, the cells of patients with epidermolysis bullosa already "are extremely prone to cancer", so by replacing their diseased cells with functional transgenic ones, "we might even decrease the risk". In his own research Marinkovich has used gene therapy to treat four patients with a different genetic form of epidermolysis bullosa.

Treating the boy had provided useful scientific information that improved understanding of how skin was regenerated and maintained, said the scientists. Now that technologies exist to more reliably tweak the human genome, the idea of growing healthy tissues and organs as-needed is sounding less and less like science fiction. The complicated treatment will not be cheap.

We've seen genetic modification used in the past with varying results. The same group of scientists previously performed a similar procedure on two children with the same condition, but this is the first time they did so on someone with such a severe case. Prevention, De Luca says, is better than restoration.

Furthermore, it's unclear how long the boy's skin will remain healthy, meaning he'll need to go through additional examinations as he gets older. But no one really knows, because the approach is so new.

Can skin cell therapy reduce cancer risk?

But he hopes that because this particular treatment involves the skin, any tumors will be easy to spot and can be quickly removed. In 2016, gene modding was used to make mosquitoes that would hopefully eliminate other mosquitoes that transmit diseases. De Luca says he has enough work to do fighting epidermolysis bullosa.

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