title: Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.
abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by mutations in the COL7A1 gene that result in absent or dysfunctional type VII collagen protein production. Clinically, RDEB manifests as early and severe chronic cutaneous blistering, damage to internal epithelium, an increased risk for squamous cell carcinoma, and an overall reduced life expectancy. Recent localized and systemic treatments have shown promise for lessening the disease severity in RDEB, but the concept of ex vivo therapy would allow a patient's own cells to be engineered to express functional type VII collagen. Here, we review gene delivery and editing platforms and their application toward the development of next-generation treatments designed to correct the causative genetic defects of RDEB.
authors.affiliation: Stem Cell Institute, University of Minnesota, Minneapolis, Minn; Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minn.
authors.forename: Christopher
authors.initials: C
authors.lastname: Perdoni
authors.affiliation: Stem Cell Institute, University of Minnesota, Minneapolis, Minn; Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minn.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Osborn
authors.affiliation: Stem Cell Institute, University of Minnesota, Minneapolis, Minn; Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minn. Electronic address: morga336@umn.edu.
authors.forename: Jakub
authors.initials: J
authors.lastname: Tolar
mesh_terms: D024143:Collagen Type VII / Q000235:genetics / Q000378:metabolism; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000628:therapy*; D005818:Genetic Engineering; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy; D006801:Humans
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII