Spinal development

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
Grant amount	£98,078.00
Grant code	SP3751

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.