Osteogenesis imperfecta (OI) is an inherited "brittle bone" disease which causes recurrent fractures in children. The disease is caused by a defect in bone-production of the protein collagen-1. This results in weak bones, retarded growth and skeletal deformity. There is no known cure and a great deal of care must be taken in handling infants who are severely affected. The child’s abnormally fragile bones are easily broken by the slightest trauma. In extreme cases, a newborn baby has multiple fractures that have occurred in the womb and many infants die shortly following birth.

In principle, OI is treatable by stem cells, which can form normal bone tissue after transplantation. This team has been working with cells found in fetal blood which in the laboratory form bone tissue after biochemical stimulation. The long term aim is to develop a treatment for the bone abnormalities which can be given to affected babies whilst still in the womb. Restoring normal bone formation would represent a significant step towards alleviating the disabling consequences of this devastating disease.