This research was completed on 12 May 2004
|Project Leader||Dr P D Turnpenny, BSc, FRCP, FRCPCH and Dr S Ellard, PhD, DipRCPath.|
|Location||Department of Clinical Genetics and the Molecular Genetics Laboratory, Royal Devon and Exeter Hospital, Exeter.|
|Grant awarded||12 July 2001|
|Start date||28 January 2002|
|End date||12 May 2004|
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.The cause of abnormal spinal development is often unknown. This team of Action Medical Researchers has previously identified a gene which is essential for normal development of the spine. As a result of this work, colleagues from all over the world have sent DNA samples from affected patients and families. The researchers will now apply various genetic techniques to these samples in an effort to identify the cause of at least some of these cases. If they can identify further causes of abnormal spinal development, this should lead to better diagnostic tests and more accurate genetic counselling for families.