Brittle bone disease | Children's Charity

Brittle bone disease

This research was completed on 13 October 2006

Project LeaderProfessor N M Fisk PhD, FRCOG, FRACOG, DDU, Professor J M Polak DBE, DSc, FRCPath, FRCP and Dr L Buttery PhD
LocationDivision of Paediatrics, Obstetrics and Gynaecology, Queen Charlotte's & Chelsea Hospital and the Tissue Engineering and Regenerative Medicine Centre, Imperial College London, London
Grant awarded10 November 2003
Start date14 June 2004
End date13 October 2006
Grant amount£138,521.00
Grant codeSP3959

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.

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.

Help us spread the word