Gemstone
The GEnomics of MusculoSkeletal traits TranslatiOnal Network (GEMSTONE) COST Action fosters collaboration among experts in genetics, epidemiology, bioinformatics, and clinical medicine across Europe. It aims to translate genomic discoveries in the musculoskeletal field into clinical applications. This initiative recognizes mobility as crucial for quality of life and independence, particularly as individuals age. Limited mobility in the elderly often precedes chronic conditions such as osteoporosis, diabetes, hypertension, and coronary heart disease.
Advancements in whole-exome sequencing and genome-wide association studies (GWAS) over the past decade have significantly enhanced our understanding of genetic factors influencing both monogenic and complex traits [1, 2]. In the musculoskeletal domain, these advancements have been pivotal in identifying genetic factors related to conditions like osteoporosis [3]. Comprehensive GWAS and studies of monogenic disorders affecting bone mass have provided insights into skeletal physiology, highlighting the need for a roadmap to guide musculoskeletal metabolism research and clinical applications, such as novel medication development.
Current treatments for osteoporosis and osteoarthritis have limited efficacy (reducing fracture risk by 25-50%) [9, 10], prompting the need for deeper understanding and new molecular pathways for innovative treatment options. Integrating genetic information to identify drug targets has shown promise in enhancing drug development success rates across phases, particularly in musculoskeletal and metabolic areas [11].
The GEMSTONE COST Action aims to unite diverse disciplines within musculoskeletal research to translate genetic discoveries into clinical applications, advancing personalized medicine (Figure 1). Studies on extreme phenotypes have uncovered molecular mechanisms underlying rare and common chronic diseases, revolutionizing treatments [12-15]. Genes implicated in familial bone disorders reveal overlaps in biological pathways affecting both monogenic and complex musculoskeletal conditions [16, 17].