ABSTRACT OF RESEARCH

Spliceosome Mediated RNA Trans-splicing (SMaRT) constitutes a new concept of gene correction by its capability to correct mutations in large mRNA species (e.g. plectin, type VII collagen, type XVII collagen) in recessive autosomal dominant mutations. In a series of proof of principle studies and in a one year pilot study funded by DebRA Prof. Bauer’s group has shown that this technology could be used in EB. It is now proposed to further develop this technique by studying its application in a cell culture system derived from a patient with EB simplex with late-onset muscular dystrophy. These experiments will provide the basis for the application of SMaRT in gene therapy in other forms of EB.

FINANCIAL SUMMARY