Epidermolysis bullosa is a genetic disease that causes blisters and chronic wounds. Epidermolysis bullosa occurs when the epidermal layer of the skin cannot attach fitly to the underlying dermis by the mutated connective protein. Epidermolysis bullosa is known as an incurable disease. Treatment only cares for blisters and prevent a new one. However, there is a good news. A few days ago, a team announced that a seven-year-old Syrian boy who transplanted transgenic replacement because of epidermolysis bullosa showed some progress. In 2015, regenerative medicine specialist Michele De Luca met doctors in Germany whose Syrian patient was suffering by epidermolysis bullosa. Laminin b3, a protein that regulates the attaching epidermal cells, was not encoded properly in the patient’s gene. Although Syrian boy met a doctor in Germany, his condition became more severe. He even lost approximately 80 percent of his epidermis. De Luca had experience in transgenic cell therapy. His patients were lack of small patches of the epidermis. On the other hand, the boy needed approximately 80 percent of replacement. However, his condition was the worst and his parents decided to treat their son using transgenic cell therapy. From his biopsy, keratinocyte, a bountiful cell type in the epidermis, was extracted and transducted so that the gene in the boy’s cell encodes the laminin b3. After the cells grow enough to cover his epidermis, they were grafted in two operations. After the operations, his new skin attached properly to the underlying dermis and had appropriate levels of laminin b3. Now, his skin does not show any defects. According to Michele De Luca, “he’s back to school, he’s exercising, he’s started to play soccer… it’s quite amazing.”
Other scientists showed a positive response.
“It establishes a landmark in the field of stem cell therapy,” Elaine Fuchs, a skin scientist at the Rockefeller University.
“The work provides in-depth, novel information on skin stem cells and demonstrated the great potential of these cells for treating a devastating disorder,” says Allessandro Aiuti, a professor at the San Raffaele Scientific Institute