Epidermolysis Bullosa is a set of genetically inherited conditions affecting 1 in 17,000 of the population. A fault in a gene causes the skin to be extremely fragile. The layers of the skin do not adhere properly and painful widespread blisters occur very easily. These can lead to increasing disfigurement, disability and in the most severe forms death in early childhood. Summary of Research EB Simplex is caused by defects in keratin genes.
Keratins are filamentous proteins which are found in a number of tissues including the skin.
They are important for its structural integrity and alterations in these proteins can make the cells fragile and less resilient to mechanical stress. There is still no treatment or cure. Projects are normally approved for two years and only extended if research results are promising. One way in which dominant types of EB might be treated depends on finding a way of completely silencing genes. Small molecules called ribozymes have been designed that are able to seek out and destroy the expression of the K14 gene in skin cells.