Understanding the Molecular Basis of Junctional Epidermolysis Bullosa and related Disorders

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Understanding the Molecular Basis of Junctional Epidermolysis Bullosa and related Disorders

Name of Researchers:		Dr John A McGrath

Places of Research:		Senior Lecturer in Dermatological Molecular Genetics, St John's Institute of Dermatology St Thomas' Hospital

Approved by DebRA Medical & Scientific Advisory Panel:		17 December 1996

Budget approved by DebRA central Committee:		18 January 1997

Date Commenced		1 March 1997 - duration 2 years

SUMMARY OF RESEARCH BEING UNDERTAKEN

Junctional Epidermolysis Bullosa (EB) is a devastating genetically inherited skin blistering condition that affects several hundred people in the UK. Junctional EB causes considerable pain, disfigurement and in many cases death in early infancy.

Recently, laboratory studies have begun to unravel some of the genetic faults that lead to Junctional EB. This project aims to discover more about these abnormal genes. Previous research has discovered the precise molecular cause of Junctional EB in some sufferers, but it is important to continue to expand the knowledge of how defects in these genes result in such skin fragility. The immediate benefits of this research project will be:

1. To improve the diagnosis and classification of Junctional EB as well as leading to better genetic counselling.

2. The ability to offer early pre-natal diagnosis in pregnancies at risk of recurrence of Junctional EB.

3. A more comprehensive knowledge of the gene defects in Junctional EB will help set the stage for the ultimate goal in EB research - gene therapy.