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

Fjorda Koromani, Nerea Alonso, Ines Alves, Maria Luisa Brandi, Ines Foessl, Melissa M. Formosa, Milana Frenkel Morgenstern, David Karasik, Mikhail Kolev, Outi Makitie, Evangelia Ntzani, Barbara Obermayer Pietsch, Claes Ohlsson, Martina Rauner, Kent Soe, Ivan Soldatovic, Anna Teti, Amina Valjevac, Fernando Rivadeneira*

*Corresponding author for this work

Research output: Contribution to journalReview articleProfessionalpeer-review

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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.

Original languageEnglish
Article number709815
JournalFrontiers in Endocrinology
Publication statusPublished - 16 Aug 2021

Bibliographical note

Funding Information:
This publication is based upon work from COST Action GEMSTONE, supported by COST (European Cooperation in Science and Technology). COST is a funding agency for research and innovation networks. Our Actions help connect research initiatives across Europe and enable scientists to grow their ideas by sharing them with their peers. This boosts their research, career and innovation.

Publisher Copyright:
© Copyright © 2021 Koromani, Alonso, Alves, Brandi, Foessl, Formosa, Morgenstern, Karasik, Kolev, Makitie, Ntzani, Pietsch, Ohlsson, Rauner, Soe, Soldatovic, Teti, Valjevac and Rivadeneira.


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