| Literature DB >> 29391251 |
Jouni Uitto1, Leena Bruckner-Tuderman2, John A McGrath3, Rainer Riedl4, Clare Robinson5.
Abstract
Epidermolysis bullosa, a group of heritable blistering disorders, shows extensive phenotypic variability due to mutations in as many as 20 distinct genes. There is no cure for this devastating group of disorders; however, a number of preclinical developments show promise, and some approaches have already reached the stage of early clinical trials. Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International, a global coalition of national patient organizations advocating on behalf of the patients and families with epidermolysis bullosa, supports research and organizes periodic scientific and clinical meetings on this disease. The most recent meeting, EB2017, was held in Salzburg in September 2017. This report summarizes some of the recent research and clinical developments that have identified promising avenues toward treatment and perhaps eventual cure, with improved quality of life for patients with epidermolysis bullosa.Entities:
Mesh:
Year: 2018 PMID: 29391251 DOI: 10.1016/j.jid.2017.12.016
Source DB: PubMed Journal: J Invest Dermatol ISSN: 0022-202X Impact factor: 8.551