Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop
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 id...
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Frontiers Media S.A.
2021
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oai:doaj.org-article:0fd0baada54340b8bb1355163a5632322021-11-10T08:14:22ZFibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop1664-239210.3389/fendo.2021.732728https://doaj.org/article/0fd0baada54340b8bb1355163a5632322021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.732728/fullhttps://doaj.org/toc/1664-2392Fibrodysplasia 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.Ruben D. de RuiterBernard J. SmildeGerard PalsNathalie BravenboerPetra KnausTon SchoenmakerEsmée BotmanGonzalo Sánchez-DuffhuesMaurizio PacificiRobert J. PignoloEileen M. ShoreMarjolein van EgmondHans Van OosterwyckHans Van OosterwyckFrederick S. KaplanEdward C. HsiaoPaul B. YuRenata BocciardiCarmen Laura De CuntoPatricia Longo Ribeiro DelaiTeun J. de VriesSusanne HilderbrandtSusanne HilderbrandtRichard T. JaspersRichard KeenPeter KoolwijkRolf MorhartJan C. NetelenbosThomas RustemeyerChristiaan ScottClemens StockklausnerPeter ten DijkeJames TriffitFrancesc VenturaRoberto RavazzoloDimitra MichaElisabeth M. W. EekhoffFrontiers Media S.A.articlefibrodysplasia ossificans progessiva (FOP)trialstherapydisease modelsinflammationangiogenesisDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021) |
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DOAJ |
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| topic |
fibrodysplasia ossificans progessiva (FOP) trials therapy disease models inflammation angiogenesis Diseases of the endocrine glands. Clinical endocrinology RC648-665 |
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fibrodysplasia ossificans progessiva (FOP) trials therapy disease models inflammation angiogenesis Diseases of the endocrine glands. Clinical endocrinology RC648-665 Ruben D. de Ruiter Bernard J. Smilde Gerard Pals Nathalie Bravenboer Petra Knaus Ton Schoenmaker Esmée Botman Gonzalo Sánchez-Duffhues Maurizio Pacifici Robert J. Pignolo Eileen M. Shore Marjolein van Egmond Hans Van Oosterwyck Hans Van Oosterwyck Frederick S. Kaplan Edward C. Hsiao Paul B. Yu Renata Bocciardi Carmen Laura De Cunto Patricia Longo Ribeiro Delai Teun J. de Vries Susanne Hilderbrandt Susanne Hilderbrandt Richard T. Jaspers Richard Keen Peter Koolwijk Rolf Morhart Jan C. Netelenbos Thomas Rustemeyer Christiaan Scott Clemens Stockklausner Peter ten Dijke James Triffit Francesc Ventura Roberto Ravazzolo Dimitra Micha Elisabeth M. W. Eekhoff Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop |
| description |
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. |
| format |
article |
| author |
Ruben D. de Ruiter Bernard J. Smilde Gerard Pals Nathalie Bravenboer Petra Knaus Ton Schoenmaker Esmée Botman Gonzalo Sánchez-Duffhues Maurizio Pacifici Robert J. Pignolo Eileen M. Shore Marjolein van Egmond Hans Van Oosterwyck Hans Van Oosterwyck Frederick S. Kaplan Edward C. Hsiao Paul B. Yu Renata Bocciardi Carmen Laura De Cunto Patricia Longo Ribeiro Delai Teun J. de Vries Susanne Hilderbrandt Susanne Hilderbrandt Richard T. Jaspers Richard Keen Peter Koolwijk Rolf Morhart Jan C. Netelenbos Thomas Rustemeyer Christiaan Scott Clemens Stockklausner Peter ten Dijke James Triffit Francesc Ventura Roberto Ravazzolo Dimitra Micha Elisabeth M. W. Eekhoff |
| author_facet |
Ruben D. de Ruiter Bernard J. Smilde Gerard Pals Nathalie Bravenboer Petra Knaus Ton Schoenmaker Esmée Botman Gonzalo Sánchez-Duffhues Maurizio Pacifici Robert J. Pignolo Eileen M. Shore Marjolein van Egmond Hans Van Oosterwyck Hans Van Oosterwyck Frederick S. Kaplan Edward C. Hsiao Paul B. Yu Renata Bocciardi Carmen Laura De Cunto Patricia Longo Ribeiro Delai Teun J. de Vries Susanne Hilderbrandt Susanne Hilderbrandt Richard T. Jaspers Richard Keen Peter Koolwijk Rolf Morhart Jan C. Netelenbos Thomas Rustemeyer Christiaan Scott Clemens Stockklausner Peter ten Dijke James Triffit Francesc Ventura Roberto Ravazzolo Dimitra Micha Elisabeth M. W. Eekhoff |
| author_sort |
Ruben D. de Ruiter |
| title |
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop |
| title_short |
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop |
| title_full |
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop |
| title_fullStr |
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop |
| title_full_unstemmed |
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop |
| title_sort |
fibrodysplasia ossificans progressiva: what have we achieved and where are we now? follow-up to the 2015 lorentz workshop |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/0fd0baada54340b8bb1355163a563232 |
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