Epidermolysis Bullosa is a set of genetically inherited conditions affecting 1 in at least 17,000 of the population. A fault in a gene causes the skin to be extremely fragile. The layers of the skin do not adhere properly and painful widespread blisters occur very easily. Currently there is no effective treatment. However it is widely anticipated that gene therapy will eventually provide lasting and effective treatments for patients for patients suffering from EB.

Recessive Dystrophic EB (RDEB) is one of the most severe forms of EB. Widespread blistering occurs over the whole body, including the mouth, throat and eyes. This leads to extensive and progressive mutilating scarring, increasing disability and deformity and most often premature death.

This project is aimed at the development of a canine model for somatic gene therapy of RDEB using a breed of golden retriever dogs who have a naturally occurring form of the condition. The condition is associated with mutations in the gene encoding type VII collagen and gene therapy for RDEB would involve the transfection of collagen VII transgenes into RDEB keratinocytes.

Dr Meneguzzi now seeks to perfect an animal model of gene therapy for the condition by treating these dogs who have RDEB. The studies will be aimed at the cure of wounds and erosions of the skin and oral mucosae of the dogs by transplantation of genetically cured keratinocytes. Direct in-vivo delivery of the curative transgene will be made to the epithelia of the upper digestive tract.