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Bone Phenotyping Approaches in Human, Mice and Zebrafish – Expert Overview of the EU Cost Action GEMSTONE (“GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork”)

  • Ines Foessl
  • , J. H.Duncan Bassett
  • , Åshild Bjørnerem
  • , Björn Busse
  • , Ângelo Calado
  • , Pascale Chavassieux
  • , Maria Christou
  • , Eleni Douni
  • , Imke A.K. Fiedler
  • , João Eurico Fonseca
  • , Eva Hassler
  • , Wolfgang Högler
  • , Erika Kague
  • , David Karasik
  • , Patricia Khashayar
  • , Bente L. Langdahl
  • , Victoria D. Leitch
  • , Philippe Lopes
  • , Georgios Markozannes
  • , Fiona E.A. McGuigan
  • Carolina Medina-Gomez, Evangelia Ntzani, Ling Oei, Claes Ohlsson, Pawel Szulc, Jonathan H. Tobias, Katerina Trajanoska, Şansın Tuzun, Amina Valjevac, Bert van Rietbergen, Graham R. Williams, Tatjana Zekic, Fernando Rivadeneira, Barbara Obermayer-Pietsch*
*Corresponding author for this work
  • Imperial College London
  • University of Tromsø – The Arctic University of Norway
  • Oslo University Hospital
  • University Medical Center Hamburg-Eppendorf
  • Faculdade de Medicina da Universidade de Lisboa
  • Université de Lyon
  • University of Ioannina Medical School
  • Biomedical Sciences Research Center Al. Fleming
  • Agricultural University of Athens
  • Centro Hospitalar Universitário Lisboa Norte
  • Medical University of Graz
  • Johannes Kepler University Linz
  • University of Bristol
  • Bar-Ilan University
  • Ghent University
  • Aarhus University Hospital
  • Royal Melbourne Institute of Technology University
  • Lund University (Malmö)
  • Brown University
  • The Sahlgrenska Academy at the University of Gothenburg
  • Sahlgrenska University Hospital
  • Bristol Medical School
  • Istanbul University - Cerrahpaşa
  • University of Sarajevo
  • Eindhoven University of Technology
  • University Hospital Centre Rijeka

Research output: Contribution to journalReview articleAcademicpeer-review

23 Citations (Scopus)
34 Downloads (Pure)

Abstract

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”.

Original languageEnglish
Article number720728
JournalFrontiers in Endocrinology
Volume12
DOIs
Publication statusPublished - 1 Dec 2021

Bibliographical note

Funding Information:
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.

Publisher Copyright:
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.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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