Complete new skin from transgenic stem cells for boy with rare genetic disease

Hassan, a then seven-year-old boy from Germany, in 2015, presented to the doctors with a rare skin disease called junctional epidermolysis bullosa or JEB. This condition leaves the skin thin and papery and easily breakable. It has been compared to “butterfly wings” because of their fragile nature.

In a new development since then, the child has received a new genetically modified skin covering 80 percent of his body in several successful surgeries. The details of the case were published in the latest issue of the journal Nature.

Hassan was originally born in Syria and was suffering from brittle and breakable skin from the day he was born. His skin was filled with blisters and wounds. Skin has several layers upon layers of cells or epidermis. These layers are held together by proteins called the anchoring proteins. In persons with JEB, these proteins are working that makes the skin layers flake off and easily breakable. The skin here fails to stick to the dermis or the layer beneath the epidermis lading to blisters. The defect lies in a gene LAMB3 that helps to code and make the anchoring proteins. JEB is incurable and only around 40 percent of the sufferers reach adolescence according to studies.

With his skin condition, Hassan came to Children's Hospital at Ruhr-University, in Bochum, Germany, in June 2015. He was missing large areas of skin that made him exceptionally vulnerable to infections and other complications. His skin was open and raw red. Dr Tobias Hirsch, who was looking after him said that the team of doctors had almost given up hope and decided to make the boy’s life as painless a possible by offering him palliative care. Then a special team led by Michele De Luca came in from the University of Modena and Reggio Emilia, in Italy who specialize in gene therapy. The parents’ consent for an experimental therapy was taken before the novel treatment began in September 2015.

To put in simple terms the therapy meant that a piece of his damaged skin was taken to the laboratory. In September 2015, a 4 sq cm piece of skin was taken from a region where his skin was intact. The DNA that coded for the anchoring proteins (that was defective in this boy), was repaired. The process of repair involved sending in the corrected DNA using a vehicle such as a customized virus that carried this new repaired DNA. Now the DNA could code for a protein that could hold the layers of the skin together. This skin graft thus was genetically modified. This skin graft measured a total of 0.85 sq metres or 9 sq feet. It was then transplanted back onto the boy. There were a series of three operations that were needed to transfer the new skin onto the boy. In the next two years the boy’s new skin appears to be normal.

Parents of the boy are happy that Hassan now leads a normal life. It took 21 months spent in bandages to have skin that was not blistering. According to Dr Hirsch the child has since then joined school and plays soccer with his friends, generally leading a normal life.

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