Improving the quality of life for people with brittle bone disease: Osteogenesis Imperfecta

Improving the quality of life for people with brittle bone disease: Osteogenesis Imperfecta Osteogenesis imperfecta is a rare genetic disease that starts to manifest in the womb by bone fractures and deformities of the skeleton. The severity of the disease ranges from mild (people can almost live a normal life) to severe (using a wheelchair as being unable to move), with the most severe cases not surviving the neonatal period and dying before birth or shortly after. This is because there are over a thousand different mutations in the DNA coding for type I collagen gene, which result in either insufficient amounts of type I collagen or an abnormal type I collagen molecule. Here Pascale V Guillot, at the University College London, looks toward improving the quality of life for those with Osteogenesis imperfecta both physically and mentally.