TY - JOUR
T1 - EB2017—Progress in Epidermolysis Bullosa Research toward Treatment and Cure
AU - Uitto, Jouni
AU - Bruckner-Tuderman, Leena
AU - McGrath, John A.
AU - Riedl, Rainer
AU - Robinson, Clare
N1 - Publisher Copyright:
© 2017 The Authors
PY - 2018/5
Y1 - 2018/5
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jid.2017.12.016
DO - 10.1016/j.jid.2017.12.016
M3 - Short survey
C2 - 29391251
AN - SCOPUS:85044350481
SN - 0022-202X
VL - 138
SP - 1010
EP - 1016
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 5
ER -