**Trying to hunt down the culprits of a debilitating condition of the spine**
Exeter researchers have been given a generous cash boost to help them track down the likely causes of abnormal spine development.
Scientists at the Royal Devon and Exeter Hospital have been given almost £100,000 in funding from the leading medical research charity, Action Research, which is dedicated to helping overcome disease and disability.
The new three-year project is designed to narrow down the genes involved in abnormal spine development - which can be debilitating congenital problems.
Many affected individuals have grossly misshapen vertebral bodies, spinal curvatures, restricted movement and short stature.
Sometimes the spinal cord is caught up in the abnormality, causing neurological symptoms. In the more severe cases the chest is so deformed that breathing is difficult and sometimes life-threatening.
Leading the study Dr Peter Turnpenny says: ‘We are delighted with the new funding. If we can identify further the possible causes of abnormal spinal development, it could lead to better diagnostic tests and more accurate genetic counselling for families.’
The cause of abnormal spinal development is often unknown. By good fortune and a previous grant funded by Action Research, the same team of researchers identified a gene which is essential for normal development of the human spine, called DLL3
As a result of this work, colleagues from all over the world have sent DNA samples from patients and families affected by abnormal spinal development, so the team can look for a defect in the gene. The researchers discovered that some cases are not always caused by a mutation in DLL3, indicating that other genes are involved. It has also become clear that mistakes in DLL3 give rise to a specific pattern of abnormal spinal development which is apparent on X-ray.
In this new project the researchers will now be applying various genetic techniques to the DNA samples. This ought to help them try and further identify the cause of at least some of these ‘unknown’ cases.
Dr Turnpenny says: ‘One of the good things that has emerged from the project is the opportunity to attempt to classify a very varied group of disorders. Gradually, the gaps in this classification will get filled in.’
Dr Turnpenny, who presented a paper on this topic at an international meeting in Oxford recently, will lead the research at the Department of Clinical Genetics and the Molecular Genetics Laboratory - joined by his colleague Dr Sian Ellard.
Action Research is committed to helping people of all ages overcome disease and disability. The charity’s Touching Lives Campaign aims to raise £2m for vital medical research and more details can be found at www.action.org.uk
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