Abstract
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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.