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KFO 5029:  Precision Medicine for Early-Onset Low Bone Mineral Density Disorders

Subject Area Medicine
Term since 2024
Project identifier Deutsche Forschungsgemeinschaft (DFG) - Project number 517063424
 
With this Clinical Research Unit we want to implement precision medicine for improved diagnosis and personalized treatment of early-onset low bone mineral density disorders. The commonalities within this heterogenous patient group are low bone mineral density (BMD) values accompanied by atraumatic fractures before the age of 50 years in the absence of known secondary causes. Given the high disease burden and the severely impaired quality of life, there is a true necessity to understand the respective pathologies at the cellular and molecular level in order to optimize and/or to establish specific treatment for all individuals. At present, these patients are often diagnosed with “idiopathic osteoporosis”, and there are no established guidelines on how to counteract BMD loss and/or to prevent additional fractures. Since a term like “idiopathic osteoporosis” can only illustrate a huge knowledge gap, our major hypothesis is that precision medicine will identify a definite disease cause, either genetic or non-genetic, as a basis for specific treatment initiation. The project is primarily based on knowledge obtained by examination of patients admitted to the outpatient clinic of the Institute of Osteology and Biomechanics (IOBM), which is also heading the National Bone Board focusing on rare musculoskeletal disorders. Based on the large number of patients admitted to the IOBM (about10.000 per year), the database of the National Bone Board, after being established in 2015, already documented clinical and genetic data for > 1.000 individuals diagnosed with early-onset low BMD. Since this number is expected to increase by approximately 100 additional cases per year, we will take advantage of a worldwide unique and exceptionally large cohort of patients which will allow big data analytics to substantially increase the molecular knowledge about low BMD disorders. More specifically, through a multidisciplinary translational research programme involving 9 different institutes/clinics of the University Medical Center Hamburg-Eppendorf and the University of Hamburg, we will introduce state-of-the-art technologies and apply a holistic clinical and molecular approach. In a first funding period we will implement various unbiased approaches followed by extensive bioinformatic analyses to ensure i) disease stratification and effective personalized treatment, ii) molecular understanding of patient-specific cellular disturbances and iii) identification of yet unknown disease-associated pathologies. In a second funding period we would not only intensify the research efforts regarding previously unknown disease-causing mechanisms, but also take advantage of the obtained knowledge to develop novel innovative therapeutic approaches. These could also be relevant for the treatment of ageing-associated skeletal disorders, which represent a major public health problem with steadily growing impact.
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