Dystrophic Epidermolysis Bullosa is the severe form of EB affecting over 1,700 individuals in Italy alone, and an estimated 1 in 35,000 over the world's population. Dystrophic EB is a genetic condition where the skin is extremely fragile and blisters very easily. It is always painful and is increasingly disabling and disfiguring.

Dystrophic EB is an inherited genetic disorder caused by alterations (mutations) affecting the correct function of the collagen type VII gene (COL7A1). This gene encodes for a protein forming microstructures which are responsible for keeping the layers of the skin together ie. anchoring the epidermis to the dermis. Defects in the gene result in defective adhesion and in the formation of blisters.

Research into COL7A1 has concluded that every patient has their own genetic mutation, often resulting in variable clinical phenotype. At the moment, researchers studying this gene are trying to make up general rules correlating the type and position of the COL7A1 mutations with the symptoms of the patients. The aim is to find quicker ways of screening for the mutations in Dystrophic EB patients. This work is very expensive, time consuming and requires specialist equipment and laboratories.

The identification of these mutations is fundamental for:-

1. The better understanding of the Molecular basis of EB.

2. The characterisation of each patient and family in view of possible pre-natal diagnosis.

3. The preparation in specialised laboratories of given amount of skin cells (Keratinocytes and Fibroblasts) from biopsies of the different patients so that in the future they can be used as recipients for the functional collagen type VII gene, ie. in readiness for then gene therapy becomes available.