Molecular Pathology of Junctional & Dystrophic Forms of Epidermolysis Bullosa,

DebRA International Completed Research Projects

DebRA Research

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Molecular Pathology of Junctional & Dystrophic Forms of Epidermolysis Bullosa, with Genotype Phenotype Correlations.

Name of Researchers:		Prof. R A J Eady Professor of Experimental Dermatopathology. Dr Jemima Mellerio DebRA Research Fellow.

Places of Research:		St John's Institute of Dermatology, St Thomas' Hospital

Approved by DebRA Medical & Scientific Advisory Panel:		17 December1997

Budget approved by DebRA central Committee:		18 January 1998

SUMMARY OF RESEARCH BEING UNDERTAKEN

The severe forms of Epidermolysis Bullosa (EB) affect over 1600 individuals in the UK alone. These are genetically inherited 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.

Since appointment in 1996 the current DebRA Research Fellow Dr Gemma Mellano has made a number of significant research findings including:

1. Several mutations have been found in British patients with Dystrophic and Junctional EB. Of significance is the finding of 2 recurrent mutations in 12 Dystrophic EB patients. This has future implications in initial screening.

2. Defining these gene mutations in EB suffers has meant that DNA - based prenatal diagnosis has been possible during the first 3 months of pregnancies at risk for reoccurrence.

This application is for additional running expenses for the second year of the DebRA Research Fellowship. The laboratory techniques used to find these mutations are based on being able to amplify the gene being studied by a process called Polymerase Chain Reaction PCR. This process involves the use of expensive but essential components.