SUMMARY OF RESEARCH BEING UNDERTAKEN

The severe forms of Epidermolysis Bullosa (EB) affect over 1,600 individuals in the UK alone. These are genetic conditions where the skin is extremely fragile and blisters very easily. Children with the most severe form (Junctional EB) usually die before the age of one year. The aim of the research is to set up an efficient method for identifying changes in the genetic information that cause these disorders Finding these changes is difficult with current methods since

                    1. most patients have unique changes and

2. for each patient a large amount of genetic information has to be screened.

The research will use the Protein Truncation Test, a recently established technique which has been applied successfully to some other genetic diseases, and which is particularly suited to the types of changes that cause EB.

Having established the method, the Test will be given to patients to find the specific changes in their own genetic information. This will enable accurate pre-natal diagnosis to be performed for those families most at risk of having further affected children.

The results of this research will contribute towards the understanding as to how these changes cause EB, thereby providing the knowledge that is essential for finding lasting and effective treatments (like gene therapy) for these distressing conditions.