Osteogenesis
imperfecta (OI), also known as brittle bone disease, is a genetic disorder that
affects the way collagen type I is folded and assembled into fibrils. The
malfunctioning in collagen assembly directly affects the mineralization process
of collagen fibrils, leading to hyper mineralization and resulting in poor mechanical
properties. By combining advanced electron microscopy techniques and Raman
spectroscopy we aim to understand the collagen organization and mineral
formation in OI bone samples, from the molecular level up to the macroscopic
level where the phenotypic effects are observed. The insights obtained will be
the first step towards a comprehensive
understanding of OI and will open the way to new approaches for future treatments.