Diagnosing and treating curvature of the spine
Children diagnosed with rare, inherited conditions such as spondylocostal dysostosis suffer curvature of the spine and reduced height, leading to other problems such as breathing difficulties and mobility issues. Whilst the causes of spinal malformations – and the genetic risks for future children – have remained largely elusive, the effects on children’s health and wellbeing are tragically apparent. But recently, huge leaps forward have been made in relation to both diagnosis and treatment.
In the early 2000s Action funded research into the causes of spondylocostal dysostosis. After studying DNA samples and X-rays from families around the world, Dr Peter Turnpenny and his team at the Royal Devon and Exeter Hospital pinpointed two faulty genes which cause specific spinal malformations. This was the first time that a human disease-causing gene that produces a major abnormality of the spine had been discovered. The team went on to develop the first ever test designed to predict whether a baby will develop spondylocostal dysostosis.
As a result of the original research, four more faulty genes have been discovered. The Exeter-based team now analyses and tests samples from all over the world.