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Essential Science: New skin from gene therapy

By Tim Sandle     Nov 20, 2017 in Science
The first ever treatment of a child, suffering with terrible skin damage, has been undertaken using transplants developed from genetically modified stem cells. The treatment was a novel form of gene therapy.
The innovative medical treatment was undertaken at Ruhr-Universität Bochum's burn unit and the Center for Regenerative Medicine at the University of Modena, in Italy. The child who was treated suffered with epidermolysis bullosa. This is a genetic skin disease that led to the destruction of 80 percent of the outer layer of his skin.
Epidermolysis bullosa refers to a set of of inherited connective tissue diseases. The diseases cause blisters in the skin and mucosal membranes. The cause is defective protein forming genes which are required for skin regeneration.
The disease occurs between the epidermis and dermis layers of the skin. The resulting friction causes extreme skin fragility. Even minor stresses (like rubbing) and movements can cause friction, leading to almost continual damage. Children with the condition are sometimes described as "Butterfly Children", "Cotton Wool Babies" or "Crystal Skin Children". Sometimes internal organs can become damaged, leading to very critical illnesses.
With the recent medical case, doctors attempted all established therapies. With these not appearing to be effective, the medics undertook an experimental method. For this they transplanted skin which was developed from genetically modified stem cells. These were placed onto the damaged skin surfaces.
Stem cell therapy
The stem cells were taken from the boy via skin biopsy. The cells were then processed in a laboratory located in Modena. The medics transferred the intact gene into acquired stem cells. For this retroviral vectors were used. These are virus particles that had been modified for gene transfer.
Stem cells are undifferentiated biological cells that can differentiate into specialized cells and can divide (through mitosis) to produce more stem cells. These embryonic stem cells can grow into any type of cell found in the body so they are not specialised. Stem cells can be removed from human embryos that are a few days old, for example, from unused embryos left over from fertility treatment.
The outcome is that the boy, called Hassan and aged seven at the time of the treatment, is now has recovered sufficiently to participate in family and social life. According to Laboratory Manager magazine, prior to this, epidermolysis bullosa had been considered incurable.
Commenting on the case, the lead medic Dr Tobias Rothoeft, describes the boy’s condition when he was first admitted: “He suffered from severe sepsis with high fever, and his body weight had dropped to a mere 17 kilograms - a life-threatening condition.”
With the treatment, the researcher explains: “Overall, 0.94 square meters of transgenic epidermis were transplanted onto the young patient in order to cover all defects, accounting for 80 percent of his entire body surface.”
The first ever patient
Hassan was the first patient worldwide who has been treated with skin transplants from transgenic epidermal stem cells on a large body surface area.
Genoskin’s human skin models provide an excellent alternative to animal testing  as they contain n...
Genoskin’s human skin models provide an excellent alternative to animal testing, as they contain no animal components.
The case highlights further progress with gene therapy. Gene therapy is a method for correcting defective genes responsible for disease development. Gene therapy may one day provide a way to cure genetic disorders, like combined immunodeficiency, cystic fibrosis or even hemophilia A.
The experiment has reported to the journal Nature. The peer reviewed research is titled “Regeneration of the entire human epidermis using transgenic stem cells.”
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This article is part of Digital Journal's regular Essential Science columns. Each week Tim Sandle explores a topical and important scientific issue. Last week we examined a type of ‘smart’ paper. The paper is capable to detecting leaks by sensing the presence of water — thanks to the paper's conduction of electricity.
The week before, we profiled scientists who have designed an electronic artificial skin which has the capability to ‘glow’ when the surface is damaged. The application will have several medical uses.
More about Skin, sking graft, Stem cells, Biotechnology
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