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Revertant cell therapy for epidermolysis bullosa

PhD ceremony:Mr A.H. (Antoni) Gostynski
When:December 17, 2014
Supervisor:M.F. Jonkman
Co-supervisor:dr. ir. A.M.G. Pasmooij
Where:Academy building RUG
Faculty:Medical Sciences / UMCG
Revertant cell therapy for epidermolysis bullosa

Epidermolysis bullosa (EB) is an inherited skin disease. Patients have lifelong fragile skin leading to chronic blistering of the skin and mucosa. Children born with EB are called Butterfly Children, because their skin is as fragile as the wings of a butterfly. Presently, the disease is incurable.

In some patients with EB a phenomenon of revertant mosaicism can be found, which is also often called natural gene therapy. These patients have healthy patches in-between fragile skin. The naturally corrected cells present in the healthy patches are called revertant. This thesis focused on application of revertant skin cells to treat EB.

A detailed introduction to EB and revertant mosaicism with current therapeutic approaches for EB is given. An attempt to transplant skin grafts cultured from a small healthy skin biopsy to a fragile skin area in a type XVII collagen deficient patient is described. Difficulty with the culture of the revertant skin cells was encountered, which prevented the production of a healthy skin graft. In a mouse model the long-term survival of transplanted revertant skin cells was shown proving feasibility of this approach.

The most important milestone was a proof-of-concept, a successful expansion of the revertant skin area in a laminin-332 deficient patient. The results obtained show that revertant cell therapy has a big potential. We propose improvement of current approach and discuss new developments involving revertant induced pluripotent stem cells.