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The Role of Plakophilin 1 in Keratinocyte Cell Biology

Name of Researchers: Dr John A McGrath
Places of Research: St John’s Institute of Dermatology, St Thomas’ Hospital, London
Approved by DebRA
Medical & Scientific Advisory Panel:
June 1999
Budget approved by
DebRA central Committee:
July 1999
Date Commenced: 08/99 duration 3 years

 

SUMMARY OF RESEARCH BEING UNDERTAKEN

Epidermolysis Bullosa (EB) is the name given to a group of genetically inherited skin blistering conditions. A fault in the genes means that the layers of the skin do not adhere. The result is blistering and shearing of the skin from even the gentlest friction and sometimes even spontaneously.

The many forms of EB fall into three major types: Simplex, Dystrophic and Junctional. These vary from relatively mild to incapacitating, crippling and sometimes fatal disorders. EB is always painful and, in most cases, leads to increasing deformity and disability.

Research in Scotland estimates the prevalence of EB to be 1:17,000. The blisters and scarring caused by EB occur continuously throughout life. At present, there are no effective treatments for EB.

Summary of Research

This project examines the fundamental question of what holds skin together. By examining skin cells that are prone to "epidermolysis" because of inherited abnormalities in a gene called plakophilin 1, it is hoped to learn more about what makes cells of the outer layer of skin stick together. Dr McGrath will also try to correct the "epidermolysis" by introducing normal copies of the defective gene into skin grown in the laboratory from patients with this inherited form of skin fragility. The work is expected to provide new findings about the mechanisms of keeping skin structurally stable as well as information which will be useful for therapeutic gene manipulation and improvement of the patients’ skin condition.

         


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