title: Innovative therapeutic strategies for recessive dystrophic epidermolysis bullosa.
abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Therapeutic options under development include protein therapy and different cell-based and gene-based therapies. In addition to treating skin defects, some of these therapies may also target internal mucosa. In the coming years, these novel therapeutic approaches should substantially improve the quality of life of patients with RDEB.
authors: División de Biomedicina Epitelial, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, España; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, España; Instituto de Investigaciones Sanitarias de la Fundación Jimenez Díaz (IIS-FJD), Madrid, España. Electronic address: Fernando.larcher@ciemat.es.
authors: F
authors: F
authors: Larcher
authors: División de Biomedicina Epitelial, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, España; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, España; Instituto de Investigaciones Sanitarias de la Fundación Jimenez Díaz (IIS-FJD), Madrid, España; Departamento de Bioingeniería, Universidad Carlos III de Madrid (UC3M), Madrid, España.
authors: M
authors: M
authors: Del Río
mesh_terms: D000818:Animals; D064987:Cell- and Tissue-Based Therapy; D024143:Collagen Type VII / Q000008:administration & dosage / Q000172:deficiency / Q000235:genetics / Q000627:therapeutic use; D004195:Disease Models, Animal; D016108:Epidermolysis Bullosa Dystrophica / Q000628:therapy*; D005544:Forecasting; D005808:Genes, Recessive; D015316:Genetic Therapy; D006801:Humans; D051379:Mice; D009030:Mosaicism; D009154:Mutation; D035703:Therapies, Investigational; D023822:Tissue Engineering
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII
keywords: Advanced therapies; Epidermolysis bullosa; Epidermólisis bullosa; Genetics; Genodermatosis; Genética; Terapias avanzadas