Bone fragility is a significant health issue that often goes beyond the traditional understanding of osteoporosis, which is diagnosed through the measurement of bone mineral density (BMD). Many fractures occur in individuals with BMD higher than the osteoporosis threshold, suggesting that factors other than low bone density contribute to bone weakness. Current treatments for improving bone health often fail to prevent further fractures, leaving patients vulnerable even after initial injuries. Despite extensive clinical, epidemiological, and genetic studies, our limited understanding of the disease's complex mechanisms has hindered better care. Fractures due to fragile bones can lead to a substantial decrease in quality of life, causing chronic pain, loss of mobility, and a reduced ability to perform everyday activities. These fractures are also associated with increased mortality, especially in older adults, where a broken hip or spine can lead to severe health complications and a higher risk of death. Moreover, the economic burden of bone fragility is large, with healthcare costs increasing due to hospitalizations, surgeries, and long-term care requirements. This financial strain extends beyond the healthcare system to families and caregivers who often bear the costs of rehabilitation and support. While environmental components like lifestyle (e.g. physical activity and nutrition) play an important role, bone fragility is also importantly determined by the genetic make-up of individuals. Despite this awareness, extensive genetic research revealing genetic variants that influence bone strength, is not yet being applied in clinical settings to improve patient care. Understanding and addressing bone fragility is therefore essential to improve individual well-being, reduce mortality rates, and alleviate the economic pressures on both families and healthcare systems.
This project aims to improve care for indiviuals at risk of bone fragility, by using a comprehensive approach to understand what causes bone fragility. This involves combining via machine learning approaches, genetic discoveries, with 3D x-ray imaging and “touching” the bone via microidentation, and translate findings into practical clinical strategies to assess risk, understand pathophysisology and redefine how we classify bone diseases.
