The “GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork”: Origins, Rationale, Organization, and Prospects

The “GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork”: Origins, Rationale, Organization, and Prospects

Koromani F et al., Front. Endocrinol., 16 August 2021

Review article  https://doi.org/10.3389/fendo.2021.709815

Fjorda Koromani1,2,3Nerea Alonso4Ines Alves5Maria Luisa Brandi6Ines Foessl7Melissa M. Formosa8Milana Frenkel Morgenstern9David Karasik9Mikhail Kolev10Outi Makitie11,12,13Evangelia Ntzani14,15Barbara Obermayer Pietsch7Claes Ohlsson16Martina Rauner17Kent Soe18,19,20Ivan Soldatovic21Anna Teti22Amina Valjevac23 and Fernando Rivadeneira1*

  • 1Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, Netherlands
  • 2Department of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands
  • 3Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, Netherlands
  • 4Rheumatology and Bone Disease Unit, CGEM-IGMM, University of Edinburgh, Edinburgh, United Kingdom
  • 5ANDO Portugal, Évora, Portugal
  • 6Department of Surgery and Translational Medicine (M.L.B.), University of Florence, Florence, Italy
  • 7Department of Internal Medicine, Division of Endocrinology and Diabetology, Endocrinology Lab Platform, Medical University Graz, Graz, Austria
  • 8Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta
  • 9Azrieli Faculty of Medicine, Bar-Ilan University, Ramat Gan, Israel
  • 10Department of Mathematics, South-West University Neofit Rilski, Blagoevgrad, Bulgaria
  • 11Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
  • 12Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland
  • 13Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland
  • 14Department of Hygiene and Epidemiology, Medical School, University of Ioannina, Ioannina, Greece
  • 15Department of Health Services, Policy and Practice, Center for Research Synthesis in Health, School of Public Health, Brown University, Providence, RI, United States
  • 16Centre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
  • 17Department of Medicine III, Medical Faculty, Technische Universität Dresden, Dresden, Germany
  • 18Clinical Cell Biology, Department of Pathology, Odense University Hospital, Odense, Denmark
  • 19Clinical Cell Biology, Pathology Research Unit, Department of Clinical Research, University of Southern Denmark, Odense, Denmark
  • 20Department of Molecular Medicine, University of Southern Denmark, Odense, Denmark
  • 21Institute of Biostatistics, University of Belgrade, Belgrade, Serbia
  • 22Department of Biotechnological and Applied Clinical Sciences, L’Aquila, Italy
  • 23Department of Physiology, Medical Faculty University of Sarajevo, Sarajevo, Bosnia and Herzegovina


Musculoskeletal research has been enriched in the past ten years with a great wealth of new discoveries arising from genome wide association studies (GWAS). In addition to the novel factors identified by GWAS, the advent of whole-genome and whole-exome sequencing efforts in family based studies has also identified new genes and pathways. However, the function and the mechanisms by which such genes influence clinical traits remain largely unknown. There is imperative need to bring multidisciplinary expertise together that will allow translating these genomic discoveries into useful clinical applications with the potential of improving patient care. Therefore “GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork” (GEMSTONE) aims to set the ground for the: 1) functional characterization of discovered genes and pathways; 2) understanding of the correspondence between molecular and clinical assessments; and 3) implementation of novel methodological approaches. This research network is funded by The European Cooperation in Science and Technology (COST). GEMSTONE includes six working groups (WG), each with specific objectives: WG1-Study populations and expertise groups: creating, maintaining and updating an inventory of experts and resources (studies and datasets) participating in the network, helping to assemble focus groups defined by phenotype, functional and methodological expertise. WG2-Phenotyping: describe ways to decompose the phenotypes of the different functional studies into meaningful components that will aid the interpretation of identified biological pathways. WG3 Monogenic conditions – human KO models: makes an inventory of genes underlying musculoskeletal monogenic conditions that aids the assignment of genes to GWAS signals and prioritizing GWAS genes as candidates responsible for monogenic presentations, through biological plausibility. WG4 Functional investigations: creating a roadmap of genes and pathways to be prioritized for functional assessment in cell and organism models of the musculoskeletal system. WG5 Bioinformatics seeks the integration of the knowledge derived from the distinct efforts, with particular emphasis on systems biology and artificial intelligence applications. Finally, WG6 Translational outreach: makes a synopsis of the knowledge derived from the distinct efforts, allowing to prioritize factors within biological pathways, use refined disease trait definitions and/or improve study design of future investigations in a potential therapeutic context (e.g. clinical trials) for musculoskeletal diseases.

Read the full paper here

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