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Title: Fibrodysplasia Ossificans Progressiva: what have we achieved and where are we now? follow-up to the 2015 Lorentz Workshop
Author: de Ruiter, Ruben D.
Smilde, Bernard J.
Pals, Gerard
Bravenboer, Nathalie
Knaus, Petra
Schoenmaker, Ton
Botman, Esmée
Sanchez Duffhues, Gonzalo
Pacifici, Maurizio
Pignolo, Robert J.
Shore, Eileen M.
Van Egmond, Marjolein
Van Oosterwyck, Hans
Kaplan, Frederick S.
Hsiao, Edward C.
Yu, Paul B.
Bocciardi, Renata
De Cunto, Carmen Laura
Ribeiro Delai, Patricia Longo
Vries, Teun J de
Hilderbrandt, Susanne
Jaspers, Richard T.
Keen, Richard
Koolwijk, Peter
Morhart, Rolf
Netelenbos, Jan C.
Rustemeyer, Thomas
Scott, Christiaan
Stockklausner, Clemens
Ten Dijke, Peter
Triffit, James
Ventura Pujol, Francesc
Ravazzolo, Roberto
Micha, Dimitra
Eekhoff, Elisabeth M. W.
Keywords: Miositis
Issue Date: 10-Nov-2021
Publisher: Frontiers Media
Abstract: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics.
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It is part of: Frontiers In Endocrinology, 2021, vol. 12
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ISSN: 1664-2392
Appears in Collections:Articles publicats en revistes (Ciències Fisiològiques)

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