TY - JOUR
T1 - Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now?
T2 - Follow-up to the 2015 Lorentz Workshop
AU - de Ruiter, Ruben D.
AU - Smilde, Bernard J.
AU - Pals, Gerard
AU - Bravenboer, Nathalie
AU - Knaus, Petra
AU - Schoenmaker, Ton
AU - Botman, Esmée
AU - Sánchez-Duffhues, Gonzalo
AU - Pacifici, Maurizio
AU - Pignolo, Robert J.
AU - Shore, Eileen M.
AU - van Egmond, Marjolein
AU - Van Oosterwyck, Hans
AU - Kaplan, Frederick S.
AU - Hsiao, Edward C.
AU - Yu, Paul B.
AU - Bocciardi, Renata
AU - De Cunto, Carmen Laura
AU - Longo Ribeiro Delai, Patricia
AU - de Vries, Teun J.
AU - Hilderbrandt, Susanne
AU - Jaspers, Richard T.
AU - Keen, Richard
AU - Koolwijk, Peter
AU - Morhart, Rolf
AU - Netelenbos, Jan C.
AU - Rustemeyer, Thomas
AU - Scott, Christiaan
AU - Stockklausner, Clemens
AU - ten Dijke, Peter
AU - Triffit, James
AU - Ventura, Francesc
AU - Ravazzolo, Roberto
AU - Micha, Dimitra
AU - Eekhoff, Elisabeth M.W.
N1 - Funding Information:
We thank the Lorentz organization for their help and facilities making this workshop possible. The workshop was made possible with grants by the Lorentz Center, the Dutch FOP foundation and ZonMw. Images were created with Biorender.com.
Publisher Copyright:
Copyright © 2021 de Ruiter, Smilde, Pals, Bravenboer, Knaus, Schoenmaker, Botman, Sánchez-Duffhues, Pacifici, Pignolo, Shore, van Egmond, Van Oosterwyck, Kaplan, Hsiao, Yu, Bocciardi, De Cunto, Longo Ribeiro Delai, de Vries, Hilderbrandt, Jaspers, Keen, Koolwijk, Morhart, Netelenbos, Rustemeyer, Scott, Stockklausner, ten Dijke, Triffit, Ventura, Ravazzolo, Micha and Eekhoff.
PY - 2021/11
Y1 - 2021/11
N2 - 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.
AB - 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.
KW - angiogenesis
KW - disease models
KW - fibrodysplasia ossificans progessiva (FOP)
KW - inflammation
KW - therapy
KW - trials
UR - http://www.scopus.com/inward/record.url?scp=85120700334&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85120700334&partnerID=8YFLogxK
U2 - 10.3389/fendo.2021.732728
DO - 10.3389/fendo.2021.732728
M3 - Article
AN - SCOPUS:85120700334
SN - 1664-2392
VL - 12
SP - 1
EP - 8
JO - Frontiers in endocrinology
JF - Frontiers in endocrinology
IS - November
M1 - 732728
ER -