Project 8: Molecular understanding of fracture healing in early-onset low BMD disorders
Description
Deterioration of bone quality is associated with an increased fracture risk, which is also the hallmark commonality of the heterogeneous patient population with early-onset low bone mineral density (BMD). Although there is anecdotal evidence of impaired bone healing in individuals carrying certain pathologic gene variants, there has been no systematic evaluation of bone regeneration in early-onset low BMD disorders. Because a fracture event has a severe, often disabling impact on the quality of life of affected individuals, there is an urgent need to understand the basis of impaired bone regeneration in affected individuals. In the context of ProBone, we therefore aim to define variant-specific healing outcomes, further understand their underlying pathophysiology, enable the development of specific therapeutic approaches, and correlate our experimental findings in mouse models with clinical data. Together, in close collaboration with other ProBone groups investigating genetic, metabolic and immunological aspects, this project is designed to provide a systematic and in-depth analysis of bone regeneration in early-onset low BMD disorders with high translational importance.
Principle Investigators
- Medical Specialist in Orthopaedics and Traumatology