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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 50-58 |
| Number of pages | 9 |
| Journal | Translational Research |
| Volume | 168 |
| DOIs | |
| State | Published - Feb 1 2016 |
Bibliographical note
Funding Information:This work was supported in part by grants from the National Institutes of Health ( R01 AR063070 and R01AR059947 ), US Department of Defense ( W81XWH-12-1-0609 ), Epidermolysis Bullosa Research Partnership, Epidermolysis Bullosa Medical Research Fund , and DebRA International . Research reported in this publication was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health Award Number UL1TR000114 . The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Publisher Copyright:
© 2016 Elsevier Inc.
