Frontiers in Endocrinology (Nov 2021)
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop
- 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
Affiliations
- Ruben D. de Ruiter
- Department of Internal Medicine, Section Endocrinology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- Bernard J. Smilde
- Department of Internal Medicine, Section Endocrinology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- Gerard Pals
- Department of Clinical Genetics and Bone Histomorphology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam, Netherlands
- Nathalie Bravenboer
- Department of Clinical Chemistry, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- Petra Knaus
- Freie Universität Berlin, Institute for Chemistry and Biochemistry, Berlin, Germany
- Ton Schoenmaker
- Department of Periodontology, Academic Centre for Dentistry Amsterdam (ACTA), University of Amsterdam and Vrije Universiteit, Amsterdam, Netherlands
- Esmée Botman
- Department of Internal Medicine, Section Endocrinology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- Gonzalo Sánchez-Duffhues
- Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, Netherlands
- Maurizio Pacifici
- Translational Research Program in Pediatric Orthopaedics, Abramson Research Center, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States
- Robert J. Pignolo
- Department of Medicine, Mayo Clinic, Rochester, MN, United States
- Eileen M. Shore
- Department of Orthopaedic Surgery and Genetics, and the Center for Research in FOP and Related Disorders, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- Marjolein van Egmond
- 0Department of Molecular Cell Biology and Immunology, Cancer Center Amsterdam, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam, Netherlands
- Hans Van Oosterwyck
- 1Division of Biomechanics, Department of Mechanical Engineering, Katholieke Universiteit (KU) Leuven, Leuven, Belgium
- Hans Van Oosterwyck
- 2Prometheus division of skeletal tissue engineering, Katholieke Universiteit (KU) Leuven, Leuven, Belgium
- Frederick S. Kaplan
- 3Department of Orthopaedic Surgery and Medicine, Center for Research in FOP and Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- Edward C. Hsiao
- 4Department of Endocrinology and Metabolism, and the Institute for Human Genetics, Department of Medicine, University of California, San Francisco, CA, United States
- Paul B. Yu
- 5Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, United States
- Renata Bocciardi
- 6Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), Università degli Studi di Genova, Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
- Carmen Laura De Cunto
- 7Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina
- Patricia Longo Ribeiro Delai
- 8Teaching and Research Institute of the Hospital Israelita Albert Einstein, Sao Paulo, Brazil
- Teun J. de Vries
- Department of Periodontology, Academic Centre for Dentistry Amsterdam (ACTA), University of Amsterdam and Vrije Universiteit, Amsterdam, Netherlands
- Susanne Hilderbrandt
- Freie Universität Berlin, Institute for Chemistry and Biochemistry, Berlin, Germany
- Susanne Hilderbrandt
- 9Berlin-Brandenburg Center for Regenerative Therapies, Charité Medical University of Berlin, Berlin, Germany
- Richard T. Jaspers
- 0Laboratory for Myology, Faculty of Behavioural and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- Richard Keen
- 1Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, United Kingdom
- Peter Koolwijk
- 2Department of Physiology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam, Netherlands
- Rolf Morhart
- 3Department of Pediatrics, Garmisch-Partenkichen Medical Center, Garmisch-Partenkirchen, Germany
- Jan C. Netelenbos
- Department of Internal Medicine, Section Endocrinology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- Thomas Rustemeyer
- 4Department of Dermatology, Amsterdam University Medical Center (AmsterdamUMC), Vrije Universiteit Amsterdam, Amsterdam, Netherlands
- Christiaan Scott
- 5Division of Paediatric Rheumatology, Departmet of Paediatrics and Child Heath, Red Cross War Memorial Children’s Hospital, University of Cape Town, Cape Town, South Africa
- Clemens Stockklausner
- 0Laboratory for Myology, Faculty of Behavioural and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- Peter ten Dijke
- Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, Netherlands
- James Triffit
- 6Botnar Research Centre, University of Oxford, Oxford, United Kingdom
- Francesc Ventura
- 7Departamento de Cièncias Fisiológicas, Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, Spain
- Roberto Ravazzolo
- 6Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), Università degli Studi di Genova, Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
- Dimitra Micha
- Department of Clinical Genetics and Bone Histomorphology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam, Netherlands
- Elisabeth M. W. Eekhoff
- Department of Internal Medicine, Section Endocrinology, Amsterdam University Medical Center (Amsterdam UMC), Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, Netherlands
- DOI
- https://doi.org/10.3389/fendo.2021.732728
- Journal volume & issue
-
Vol. 12
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.
Keywords
