Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease

Musculoskeletal diseases are a major health burden. Development of bone-active therapies has been hindered by limited understanding of the cells and genes that regulate the skeleton. We exploited the value of cross-species analysis and developed single-cell methodologies in skeletal tissues to define the critical...

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Dissecting the genetic architecture of knee alignment reveals its contribution to osteoarthritis risk [PREPRINT]

Objectives: To investigate the biological and clinical relevance of knee alignment in osteoarthritis by integrating population-scale imaging, genome-wide association, and functional genetic analyses. Methods: Femorotibial angle was derived from dual-energy X-ray absorptiometry scans in UK Biobank using machine-learning...

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The genetic architecture of trabecular bone score and association with fracture: a genome-wide association and meta-analysis [PREPRINT]

Background: Trabecular bone score (TBS) is a texture-based measurement derived from DXA scans, which describes the distribution of mineral across the vertebral bodies. Identifying its genetic determinants is crucial for enhancing understanding of its biological basis and clarifying its relationship with fracture risk....

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Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease [PREPRINT]

Musculoskeletal diseases are a major global health burden. Development of new bone-active therapies is hindered by limited understanding of the complex interactions between the cells and genes that regulate the skeleton. To unravel this complexity, we systematically annotated all cells in bone and defined the genes that...

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