GEnomics of MusculoSkeletal traits TranslatiOnal Network (GEMSTONE)

Project summary

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.

GEMSTONE will 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.