In osteoporosis, bone loss results in fractures. Muscle loss, sarcopenia, often coexists and contributes to skeletal fragility. We study patients with monogenic osteoporosis to understand contribution of various signaling pathways for musculoskeletal health. Our translational study applies clinical and imaging tools, bone and muscle biopsies, and biomarkers to provide in-depth clinical, tissue-level, cellular and molecular data on skeletal and muscular characteristics in affected patients. We use various cell-based strategies and animal models for detailed musculoskeletal analyses, drug discovery and pre-clinical treatment trials. Our goal is to elucidate disease mechanisms in osteoporosis and interconnections between osteoporosis and sarcopenia.

2025