Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa - PubMed (original) (raw)
Review
Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa
Christopher Perdoni et al. Transl Res. 2016 Feb.
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.
Copyright © 2016 Elsevier Inc. All rights reserved.
Conflict of interest statement
Disclosures and Authorship Agreement
The authors state no conflicts of interest.
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