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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
  • Medical University of Graz
  • Imperial College London
  • University of Tromsø – The Arctic University of Norway
  • University of Oslo
  • University of Hamburg
  • University of Lisbon
  • Université de Lyon
  • University of Ioannina
  • Alexander Fleming Biomedical Sciences Research Center
  • Agricultural University of Athens
  • Centro Hospitalar Universitário Lisboa Norte
  • Johannes Kepler University Linz
  • University of Bristol
  • Ghent University
  • Aarhus University
  • Royal Melbourne Institute of Technology University
  • Lund University
  • Erasmus University Rotterdam
  • Brown University
  • University of Gothenburg
  • Sahlgrenska University Hospital
  • Istanbul University - Cerrahpaşa
  • University of Sarajevo
  • Eindhoven University of Technology
  • University of Rijeka

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations

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
StatePublished - 1 Dec 2021

Bibliographical note

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.

Funding

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.

FundersFunder number
H Järnhardt Foundations
International Mouse Phenotyping Consortium
Research and Development Council of Region Skåne
Skåne University Hospital Research Fund
Swedish Rheumatism foundation
Wellcome Trust101123
Austrian Science Fund
Vetenskapsrådet2018-02981
Greta och Johan Kocks stiftelser
Stiftelsen Konung Gustaf V:s 80-årsfond
Medizinische Universität Graz

    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

    Keywords

    • COST
    • GEMSTONE
    • animal models
    • bone and skeletal diseases
    • imaging
    • phenotyping

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