COST Action CA18139

Genomics of MusculoSkeletal traits Translational Network

Join the Action

The Action is an open, interdisciplinary and growing network welcoming academics, practitioners and relevant stakeholders to contribute to the activities of the GEMSTONE.


The musculoskeletal system is a key element for healthy aging, being mobility a fundamental component of quality of life, health, and independence of aging individuals.
The unprecedented amount of discoveries arising from genome-wide association studies (GWAS) have set a new era full of translational potential in the field of musculoskeletal biology. Coupled to the growing understanding of monogenetic disorders, the GWAS discoveries have set a roadmap characterizing the biological pathways underlying the musculoskeletal metabolism. The musculoskeletal field is now confronted with new biology arising in the form of novel factors clustering in known molecular pathways but also with novel factors whose role and function remains to be elucidated.

Several opportunities to increase the amount of discoveries like the imminence of whole-genome sequencing efforts, the advent of a new generation of “very-low cost” GWAS arrays and the availability of very large mega GWAS studies like the UKBIOBANK are now in place. The challenge is now about bringing the knowledge arising from high-throughput analysis of increasingly available BIG DATA to a larger set of researchers, who can both contribute to 1) generating additional genetic discoveries and 2) setting the ground for their functional characterization in order to translate these genetic discoveries into meaningful clinical applications. To do this, GEMSTONE will be the mechanism to reach out to a wider range of researchers active in musculoskeletal biology, in order to fuel the production of discoveries and their biological relevance, which will allow their translation to treatments and new molecular definitions.

Latest News

“BioGeMT Project – Recruitment of the Team which will support the ERA Chair holderThe ERA Chair Team for this project will involve the recruitment of:(i) Researchers to perform Bioinformatics research, data analysis,...
Iryna Khrystoforova has just finished her PhD at Bar-Ilan University, Azrieli Faculty of Medicine under supervision of Prof. Karasik, Genetics of musculoskeletal diseases lab. Currently she is a Postdoc at...
Ines Alves is the founder and president of ANDO Portugal, the Skeletal Dysplasia National Association as well as the representative of the European Patient Advocacy groups (ePAG) and many other...

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