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. Lay 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. However there is still no treatment or cure. The presence of this synthetic molecule stimulates repair mechanisms within the cell which corrects the defect. This technique has been used to alter DNA in other systems and would appear to be an attractive gene therapy for EB Simplex since the agents involved are non-toxic. The project will involve developing model systems in which to test the viability of this approach.