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09 November 2017, 10:02 | Melissa Porter
Transgenic stem cells replace almost total organ
No thanks to the genetic skin disease, about 80 percent of his epidermis had already been destroyed, with established treatments failing to give the child relief.
So they "studied the literature" and came across the work of Michele de Luca, a regenerative medicine expert in Modena, Italy.
Once the fix was in place, the cells were cultured to grow larger patches of new skin, which were then attached to sheets of the protein fibrin and grafted onto the boy's body.
Now deemed incurable, epidermolysis bullosa is a congenital skin disease characterized by a defect in the genes responsible for forming proteins necessary to skin regeneration. The prognosis was very poor, but he survived.
A team at the burns unit in the children's hospital at Ruhr University in Bochum grew the boy a new skin in a laboratory using genetically altered stem cells.
At first doctors tried various treatments, including taking skin from the boy's father and grafting it onto the child.
"All the clinical, biological and molecular parameters are fine, his epidermis is stable, robust, doesn't blister at all and its functionality is quite good", he says. They took a small skin sample and added a normal version of his bad gene to skin cells in the lab.
A period of four months inpatient recovery then followed, and Hassan was discharged in February 2016, the team said: "Transplanting 80% of the skin and providing intensive medical care to the patient over a period of eight months was extremely challenging". 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. Because known therapies were not able to help in managing Hassan's condition, it was then that the medical team made a decision to give an experimental approach a shot: transplanting skin developed from genetically modified stem cells over wound surfaces.
The case was described Wednesday in the journal Nature.
The regenerated epidermis "firmly adhered to the underlying dermis", the researchers reported.
Plastic surgeon Professor Tobias Hirsch, from Bochum Children's Hospital, described the critical condition of the boy when he was admitted to the burns unit.
The boy still has some blisters in non-transplanted areas - affecting about two or three per cent of his body surface area.
"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.
"If he gets any bruises like small kids. have, they just heal as normal skin heals. like bruises in any other kids do".
He said the child was using a home trainer and playing football.
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.
In the future, if the treatment is shown to be safe in the long term, scientists believe the approach could be used to treat less severe skin disorders.
These were vital to the process that allowed the skin to regenerate itself completely about once every month. Though the results are promising, some similar conditions could require more complicated genetic engineering, and the procedure may be more hard in adults, who have more total skin area, and whose stem cells don't replenish themselves as readily.
"The different forms of epidermolysis bullosa affect approximately 500,000 people worldwide".
The medical team obtained stem cells from Hassan, transferring an intact gene into the sample.
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