Bone phenotyping approaches in human, mice and zebrafish – expert overview of the EU Cost Action GEMSTONE (“Genomics of MusculoSkeletal traits Translational Network”)

Bone phenotyping approaches in human, mice and zebrafish – expert overview of the EU Cost Action GEMSTONE (“Genomics of MusculoSkeletal traits Translational Network”)

Ines Foessl et al, Nov. 2021

Ines Foessl1Duncan Bassett2Åshild Bjørnerem3Björn Busse4Ângelo M. Calado5Pascale Chavassieux6Maria Christou7, Eleni Douni8, 9, Imke Fiedler4João E. Fonseca5, 10Eva Hassler11Wolfgang Högler12Erika Kague13David Karasik14, Patricia Khashayar15Bente L. Langdahl16Victoria D. Leitch17Philippe Lopes18Georgios Markozannes7Fiona McGuigan19Carolina Medina-Gomez20Evangelia Ntzani7, 21Ling Oei20Claes Ohlsson22Pawel Szulc6Jonathan H. Tobias23, 24Katerina Trajanoska20, Şansın Tuzun25Amina Valjevac26Bert van Rietbergen27Graham R. Williams2Tatjana Zekic28Fernando Rivadeneira20 and Barbara Obermayer-Pietsch1*

  • 1Department of Internal Medicine, Division of Endocrinology and Diabetology, Endocrine Lab Platform, Medical University of Graz, Austria
  • 2Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Hammersmith Campus, Imperial College London, United Kingdom
  • 3Department of Clinical Medicine, UiT The Arctic University of Norway, Norway
  • 4Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Germany
  • 5Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Portugal
  • 6INSERM UMR 1033, Université de Lyon, France
  • 7Department of Hygiene and Epidemiology, Medical School, University of Ioannina, Greece
  • 8Institute for Bioinnovation, B.S.R.C. “Alexander Fleming”, Greece
  • 9Department of Biotechnology, Agricultural University of Athens, Greece
  • 10Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE CHLN, Portugal
  • 11Division of Neuroradiology, Vascular and Interventional Radiology, Department of Radiology, Medical University of Graz, Austria
  • 12Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Austria
  • 13School of Physiology, Pharmacology and Neuroscience, Faculty of Biomedical Sciences, University of Bristol, United Kingdom
  • 14Azrieli Faculty of Medicine, Bar-Ilan University, Israel
  • 15Center for Microsystems Technology, Imec and Ghent University, Belgium
  • 16Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Denmark
  • 17Innovative Manufacturing Cooperative Research Centre, RMIT University, School of Engineering, Australia
  • 18Laboratoire de Biologie de l’Exercice pour la Performance et la Santé (LBEPS), Univ Evry, IRBA, Université Paris Saclay, France
  • 19Department of Clinical Sciences, Faculty of Medicine, Lund University, Sweden
  • 20Department of Internal Medicine, Erasmus Medical Center, Netherlands
  • 21Department of Health Services, Policy and Practice, Center for Research Synthesis in Health, School of Public Health, Brown University, United States
  • 22Centre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Sweden
  • 23Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, United Kingdom
  • 24MRC Integrative Epidemiology Unit, University of Bristol, United Kingdom
  • 25Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, Physical Medicine and Rehabilitation Department, Turkey
  • 26Department of Physiology, Medical Faculty University of Sarajevo, Bosnia and Herzegovina
  • 27Department of Biomedical Engineering, Eindhoven University of Technology, Netherlands
  • 28Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Clinical Hospital Center Rijeka, University of Rijeka, Croatia

A synoptic overview of scientific methods applied in bone and associated research fields across species has yet to be published. Experts from the EU Cost Action GEMSTONE (“GEnomics of MusculoSkeletal Traits translational Network”) Working Group 2 present an overview of the routine techniques as well as clinical and research approaches employed to characterize bone phenotypes in humans and selected animal models (mice and zebrafish) of health and disease. The goal is consolidation of knowledge and a map for future research. This expert paper provides a comprehensive overview of state-of-the-art technologies to investigate bone properties in humans and animals – including their strengths and weaknesses. New research methodologies are outlined and future strategies are discussed to combine phenotypic with rapidly developing –omics data in order to advance musculoskeletal research and move towards “personalised medicine”.

Read the full paper here

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