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: Christopher Perdoni, Mark J Osborn, Jakub Tolar
• Journal: Translational research : the journal of laboratory and clinical medicine (Transl Res) Vol. 168 Pg. 50-58 (Feb 2016) ISSN: 1878-1810 [Electronic] United States
• PMID: 26073463 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Review)
• Copyright: Copyright © 2016 Elsevier Inc. All rights reserved.

Chemical References

• COL7A1 protein, human
• Collagen Type VII

Topics

• Collagen Type VII (genetics, metabolism)
• Epidermolysis Bullosa Dystrophica (genetics, therapy)
• Genetic Engineering
• Genetic Predisposition to Disease
• Genetic Therapy
• Humans