Genetics and Skeletal Fragility

Skeletal fragility is a major contributor to morbidity worldwide, encompassing both common conditions such as osteoporosis and rare inherited metabolic bone diseases. While clinical risk factors and imaging remain central to assessment, advances in human genetics have significantly deepened our understanding of the molecular mechanisms governing bone strength and turnover. In particular, the identification of monogenic bone disorders has revealed key pathways involved in skeletal regulation, many of which have directly informed the development of current anti-fracture therapies. As genetic tools become more accessible, their integration into clinical practice is increasingly important for improving diagnosis, risk stratification, and personalized treatment strategies.This Research Topic aims to explore the role of genetics in skeletal fragility, bridging the gap between molecular discoveries and clinical application. It seeks to address how genetic insights can enhance the diagnosis of bone disorders, clarify genotype–phenotype relationships, and guide therapeutic decision-making. In addition, the collection will examine how emerging genetic and epigenetic methodologies can be applied in both research and clinical settings to advance the field.Submissions with a primary clinical focus are particularly encouraged. Preclinical studies will be considered only when based on well-validated models that closely recapitulate human skeletal fragility disorders and demonstrate clear translational relevance.We welcome submissions including original research, reviews, and case reports covering, but not limited to, the following areas:• Genetic determinants of skeletal fragility in both common and rare bone diseases• Monogenic bone disorders as models for understanding bone biology and therapeutic targets• Genotype–phenotype correlations in patients with bone fragility• Clinical application of genetic testing in diagnosis, prognosis, and treatment selection• Case reports illustrating the role of specific genetic variants in skeletal disorders• Advances in genetic and epigenetic analysis techniques relevant to bone research• Translational studies linking genetic discoveries to current or emerging anti-fracture therapiesBy integrating clinical perspectives with molecular and methodological advances, this Research Topic aims to provide a comprehensive overview of how genetics is reshaping the understanding and management of skeletal fragility. Topic editors: ALBERTO FALCHETTI, Vito Guarnieri Source: https://www.frontiersin.org/research-topics/79845/genetics-and-skeletal-fragility