| Location: | Department of Clinical Genetics and the Molecular Genetics Laboratory, Royal Devon and Exeter Hospital, Exeter. |
|---|---|
| Amount: | £98,078 |
| Status: | Research completed |
| Start Date: | 28th January 2002 |
| Finish Date: | 12th May 2004 |
| Grantholder: | Dr P D Turnpenny, BSc, FRCP, FRCPCH and Dr S Ellard, PhD, DipRCPath. |
| Research worker: | Dr N V Whittock |
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.