INV34

Correction of recessive dystrophic epidermolysis bullosa using genome editing strategies

F Larcher(1)

1:CIEMAT

Genome editing technologies enable precise changes to DNA sequences and have the potential to treat genetic diseases. Epidermolysis bullosa (EB) is a group of rare genetic diseases characterized by dermal-epidermal adhesion defects. The recessive dystrophic subtype of EB (RDEB), which presents one of the most severe phenotypes, is caused by mutations in COL7A1, the gene encoding collagen VII, which is the main component of the anchoring fibrils that bind the dermis and epidermis. Gene editing approaches to correct pathogenic mutations in COL7a1 by NHEJ and, more precisely, HDR
mechanisms have enabled the recovery of collagen 7 expression in patients' cells.
Technical advances in delivery systems for CRISPR/Cas9 genomic nucleases in the form of ribonucleoproteins and template sequences using AAV vectors have achieved correction efficiencies that make it now possible to devise ex vivo gene editing-based therapeutic protocols that can be transferred to the clinic.