Brittle bone disease also referred to as Osteogenesis Imperfecta (OI) is the commonest genetic condition that results in fractures. Intelligence in OI is reported to be normal. With large scale genetic studies, we are increasingly aware of other genetic conditions where individuals can present with unexplained fractures with a background of intellectual disability and/or seizures. The question remains why these individuals develop fractures and what is the underlying cause of this. Through this research project, we want to better understand why bone health is affected in these genetic conditions and how we should look after these individuals. This will also help understand better bone genetics and what factors influence bone health.
This project has been funded by the Brittle Bone Society and is carried out by researchers at the University of Sheffield, led by Dr Meena Balasubramanian.