Gene therapy: a glimpse into the future of medicine

By Nikita Ved

“Gene therapy is defined as a set of strategies that modify the expression of an individual’s genes or repair abnormal genes.
Each strategy involves the administration of a specific nucleic acid (DNA or RNA). Nucleic acids are normally not taken up by
cells, thus special carriers, so-called 'vectors' are required. Vectors can be of either viral or non-viral nature. Cell therapy is
defined as the administration of living whole cells to a patient for the treatment of a disease. The origin of the cells can be from
the same individual or from another individual.”

Source The American Society of Gene and Cell Therapy

Frequently hailed as the future of medicine, gene and cell therapy has been applied, with varying degrees of success, to treat many conditions such as inherited forms of blindness, neurodegenerative disorders and lymphoma, amongst many others. An article published in the journal Nature in early used gene and cell therapy to regenerate the epidermis of a seven year old boy with a debilitating skin condition called Junctional epidermolysis bullosa (JEB). JEB is a genetic disease resulting in chronic wounds and blistering to the skin and mucosa, recurrent infections and potentially skin cancer. The young boy was admitted to the Burn Unit of the Children’s Hospital in Ruhr (Germany) after suffering complete epidermal loss on 60% of his body. In light of the patient’s poor prognosis, doctors at the Children’s Hospital opted for a risky approach. They took a 4cm 2 skin biopsy from an unaffected area of the boy’s body and extracted epidermal cells from it. A viral vector carrying a healthy version of the gene mutated in the boy’s DNA was then introduced in these cells, therefore fixing the affected sequence of their genome. The boy’s cells were then kept alive artificially until several 0.85 metre squared epidermal grafts were obtained. After three separate operations, the doctors were able to replace 80% of the patient’s skin. The boy was constantly monitored and, after 21months, his skin showed resistance to stress and no signs of blistering. This landmark study enabled a seven year old boy in severe pain and with a poor prognosis to make a full recovery with the potential of living a fully healthy life. Furthermore the doctors, who are also the authors of the scientific study, did not detect an autoimmune response against the molecules derived from the transgene introduced in the boy’s skin. This groundbreaking study shows that it is entirely possible to replace a whole epidermis using gene and cell therapy, and provides a platform of treatment for many sufferers of JEB and other invalidating genetic conditions. Will gene therapy be the key for a longer and healthier life?