In the context of the clinical research unit ProBone this project (P1) has the role to identify patients with early-onset low bone mineral density (BMD) and to provide, after exclusion of known secondary causes, samples to other ProBone partners. P1 will also document more than 100 clinical parameters for each patient, which will be systematically evaluated, assisted by the central project CP2. Another key focus of P1 is to monitor, with the same diagnostic panel as applied at first visit, the influence of existing treatment options, if initiated. P1 will also be responsible for the generation, provision and baseline analysis of genetically modified mouse models for specific early-onset low BMD disorders. Moreover, in close collaboration with the central project CP1, human induced pluripotent stem cells (hiPSCs) generated from patient-derived primary urinary cells will be functionally studied by various assays, in collaboration with projects P4 and P6. The ultimate goal of P1 is a personalized treatment of respective patients, to prevent further BMD loss and, most importantly, skeletal fractures.

Department of Osteology and Biomechnics