Michele De Luca from the University of Modena and Reggio Emilia in Italy specialize in culturing skin cells to make sheets of skin layers in culture that can be transplanted onto the bodies of patients with skin injuries or skin diseases. Patients with full-thickness burns or other types of injuries can benefit greatly from this type of therapy. Dr. De Luca is also interested in a genetic disease known as epidermolysis bullosa (EB). EB is really a group of diseases of the skin characterized by blistering in response to minor injury, heat, or friction from rubbing, scratching or even adhesive tape. There are four main types of EB and most of them are inherited.
Dr, De Luca had a patient named Claudio who suffered from EB. Claudio had been tortured all his life with huge open wounds all over his body. Dr. De Luca was able to grow Claudio’s skin in culture and form large sheets of skin, but, unfortunately, these skin sheets were just as abnormal his Claudio’s native skin, and the transplanted sheets would have done little good.
To solve this problem, Dr. De Luca used gene therapy to fix the genetic problem in Claudio’s skin cells. Claudio suffered from a mutation in the gene that encodes Laminin 5, a cell adhesion protein that is essential for getting the skin layers to stick together. In order to fix this mutation, De Luca used a completely novel method for placing genes into cells that included viruses that inactivate themselves once they insert into the genome of the cultured cells, but the inserted gene is still under the control of sequences that cause it to be expressed only in skin cells.
After introducing a normal copy of the laminin 5 gene into Claudio’s cultured skin cells, Dr. De Luca was able to grow Claudio’s skin in cultured into tough, resilient, skin sheets that were then transplanted onto Claudio’s legs. The transplanted skin provided large swaths of normal skin that did not suffer from open wounds or pain. The grafts have now been in place and stable for several years.
The combination of two technologies, gene therapy and tissue engineering gave Claudio a new lease on life. Unfortunately, because genetically engineered cells are, legally speaking, drugs, many new safety criteria must be met before this technology is ready for use in an off-the-shelf kind of treatment for patients.