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 Prof. Bauer’s group has recently 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. DebRA’s grant is for a one year pilot project.

FINANCIAL SUMMARY