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 Foessl¹, Duncan Bassett², Åshild Bjørnerem³, Björn Busse⁴, Ângelo M. Calado⁵, Pascale Chavassieux⁶, Maria Christou⁷, Eleni Douni^{8, 9}, Imke Fiedler⁴, João E. Fonseca^{5, 10}, Eva Hassler¹¹, Wolfgang Högler¹², Erika Kague¹³, David Karasik¹⁴, Patricia Khashayar¹⁵, Bente L. Langdahl¹⁶, Victoria D. Leitch¹⁷, Philippe Lopes¹⁸, Georgios Markozannes⁷, Fiona McGuigan¹⁹, Carolina Medina-Gomez²⁰, Evangelia Ntzani^{7, 21}, Ling Oei²⁰, Claes Ohlsson²², Pawel Szulc⁶, Jonathan H. Tobias^{23, 24}, Katerina Trajanoska²⁰, Şansın Tuzun²⁵, Amina Valjevac²⁶, Bert van Rietbergen²⁷, Graham R. Williams², Tatjana Zekic²⁸, Fernando Rivadeneira²⁰ and Barbara Obermayer-Pietsch^1*

• 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