Epidermolysis bullosa simplex accounts for the largest proportion of patients affected by various forms of EB. We can still offer no cure for EBS but we can gather information about the mutations underlying the disorder and use these to build up a broad picture of the nature of the variation in EBS and to learn more about the biological processes causing cell fragility. At the same time we can then provide information on individual mutations to the affected families, which appears to have a significant positive psychological effect as well as informing decisions on family planning.

The Dundee group has been analysing mutations in EBS for many years and has become the acknowledged UK centre for EBS mutation analysis. This analysis is now being extended to the USA to establish a picture of the range and variation of EBS mutations outside of the UK so that a similar information service can be offered to EBS patients and families in the USA. One of the aims of this grant is, therefore, to extend this mutation analysis.

We know that EBS is caused by mutations in the genes responsible for keratin filaments in skin cells, but we do not know how these keratin mutations actually cause the cells to fracture on physical stress. By finding out more about the disease mechanisms and processes it is hoped to identify a point in the process where some more general therapeutic intervention can be used to improve the condition – for example it might be possible to find a drug treatment which slows down the break-up of the keratin filaments, making the EBS cells stronger.