371 The use of human skin equivalents to evaluate the effectivity of QR-313, an antisense oligonucleotide, in gel formulation

Recessive dystrophic epidermolysis bullosa (RDEB) is a blistering disorder caused by mutations in the COL7A1 gene, encoding type VII collagen (C7). Reduced functional or absent C7 leads to fragile skin. QR-313 is an antisense oligonucleotide designed to skip exon 73 from COL7A1 mRNA, thereby excluding mutations in this exon from the transcript. This leads to the formation of a slightly shorter C7 (C7 Δ73) protein. We previously demonstrated the functionality of C7Δ73 using isolated protein, and the efficacy of QR-313 in cell cultures.

Source: Journal of Investigative Dermatology - April 19, 2019 Category: Dermatology Authors: M. Hogervorst, M. van Berkel, C. Oort, M.P. Marinkovich, D. Keene, T. Ritsema, J. Swildens, I. Haisma Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research