Experimental modeling of congenital epidermolysis bullosa — a tool for studying the pathogenesis and gene therapy targets of the disease

Epidermolysis bullosa (EB) is a phenotypically and genetically heterogeneous group of hereditary dermatoses characterized by the formation of blisters on the skin and/or mucous membranes with minimal mechanical exposure. The study of the pathogenesis and development of therapeutic strategies for EB present significant challenges. In this regard, experimental animal models of EB, especially using laboratory mice, are important in modern science. Genetically modified lines reproducing key mutations in the corresponding genes (Krt5, Krt14, Plec, Lama3, Lamb3, Lamc2, Col7a1, etc.) successfully mimic phenotypic manifestations characteristic of human forms of EB and allow us to study the stages of the pathological process development, as well as to study the molecular basis of the disease and initiate the development of new effective methods of treatment. The advent of genome editing using CRISPR-Cas9, which allows targeted mutations in genes of interest, has simplified the disease modeling process. Further improvement of models is necessary for effective translation of experimental data into clinical practice.