A Blistering Success

Newcastle University scientists lead research into the genetic treatment of skin blstering diseases

Scientists at Newcastle University are heading up a British Skin Foundation funded team performing pioneering research into curing genetic skin blistering diseases that devastate the lives thousands across the UK. Diseases cause by defective proteins, such as epidermolysis bullosa can be cured by cutting out the gene responsible for the protein using zinc-finger nucleases (ZFNs), enzymes which locate and snip the specific gene from a larger DNA sequence.

Julia Reichelt leads the group, which has utilised autofluorescent skin stem cells in their published work, showing the removal of the implnated gene responsible for fluorescence in 20% of the cells by ZFNs. This suggests a potentially transmissable level of deactivation of the proteins that cause disease.

Extreme diseases like epidermolysis bullosa (EB) can cause the skin to be severely damaged by the slightest contact; effecting 1 in 17000 children born in the UK, it is estimated 5000 people live with the disease today. Growing media attention in the form of the BBC programme Stormchaser: The Butterfly and the Tornado and the 2004 documentary The Boy Whose Skin Fell Off has brought the potential severity of such conditions into the public domain.

This result is the first step in a long process of research, as Dr Reichelt explains: “We are still in very the early stages of being able to develop an actual form of therapy. The idea is to isolate skin stem cells from the patients, then treat these skin stem cells with specific ZFN in cell culture in order to switch off the disease causing gene.”

Provided an effective method of transplantation of the regrown skin can be developed, similar therapeutic methods with ZFNs could be utilised in the treatment of various skin diseases. As Dr Reichelt adds: “ We and other researchers in the field are very enthusiastic about the usefuness of ZFN technology.” The ultimate aim is to develop a permanent one time curative therapy; although this will take time, steps are certainly being taken in the right direction.