Bone phenotyping approaches in human, mice and zebrafish : expert overview of the EU cost action GEMSTONE (“GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork”)

Copyright © 2021 Foessl, Bassett, Bjørnerem, Busse, Calado, Chavassieux, Christou, Douni, Fiedler, Fonseca, Hassler, Högler, Kague, Karasik, Khashayar, Langdahl, Leitch, Lopes, Markozannes, McGuigan, Medina-Gomez, Ntzani, Oei, Ohlsson, Szulc, Tobias, Trajanoska, Tuzun, Valjevac, van Rietbergen, Williams, Zekic, Rivadeneira and Obermayer-Pietsch. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.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".Funding was obtained from the GEMSTONE COST Action (CA18139). The Origins of Bone and Cartilage Disease Programme analysed the skeletal phenotypes of knockout mice generated by the International Mouse Phenotyping Consortium (IMPC) and was funded by a Welcome Trust Strategic Award (101123) to GRW and JHDB. IF is enrolled in the PhD program MOLIN at the Medical University of Graz, funded by the Austrian Science Fund (FWF). FM is funded by the Swedish Research Council (2018-02981), Greta and Johan Kock Foundation, the A. Påhlsson, A. Osterlund Foundation and H Järnhardt Foundations, King Gustav V 80 year fund, Swedish Rheumatism foundation, Skåne University Hospital Research Fund, Research and Development Council of Region Skåne.