ABSTRACT OF RESEARCH

Epidermolysis Bullosa (EB) results from a deficiency in basement membrane proteins that attach the epidermis to the underlying skin with the result that the skin is fragile and separates when injured.  Unfortunately, as time goes on, it has become apparent that people with RDEB often develop skin cancer in adult life, particularly the variety called squamous cell carcinoma which can spread widely and cause death.  The risk of developing this sort of cancer increases substantially throughout the life of the RDEB patient.

DebRA has made the understanding of this life-threatening problem a funding priority and has agreed to fund this substantial programme grant, over five years, at a cost of approximately £1 million.

The programme brings together a number of eminent research teams in related fields to concentrate on understanding the causes, nature and mechanisms involved in developing skin cancer in RDEB and attempts to address the issue as to whether gene therapy might help to prevent skin cancer or help to treat skin cancer once it has developed.

As very few patients have been able to give material from their skin cancers for study, cells from skin cancers have been grown in the laboratory and these will be studied in comparison with cell lines from cancers in patients who do not have EB.  These will include patients who develop multiple skin cancers due to immunosuppression therapy following kidney or heart transplants.  Understanding the mechanisms more clearly may give us further ideas as to how to treat and prevent the skin cancers that develop in RDEB.  The work will also establish whether gene therapy will prevent or worsen the risk of skin cancer.

In addition, a research network of international researchers into skin carcinogenesis in EB will be established, with annual workshops and an international meeting in 2008.  A tissue bank resource of tumour material will also be established to complement the existing DebRA-funded tissue bank in Germany.

FINANCIAL SUMMARY