An international team of researchers, including Brendan Burchell, Professor in Sociology, have discovered genetic clues to the cause of restless leg syndrome, a condition common among older adults. The discovery could help identify those individuals at greatest risk of the condition and point to potential ways to treat it.
Professor Burchell said, ‘I think that this is a nice example of how research collaborations between very diverse disciplines can arise in Cambridge. I am a sufferer from RLS, thus my initial interest in this topic; most of my research is on people’s working lives and their wellbeing.’
Before this project he had been working with a team of medics from Johns Hopkins University looking at the possible link between RLS and blood donations in Cambridgeshire. One of the problems with RLS research up to that point was that it had been a very difficult disease to diagnose without a detailed interview with a medically qualified expert.
Using his skills as a survey methodologist Professor Burchell developed a new questionnaire-based diagnostic tool that was relatively easy to complete, thus permitting research samples to be increased from dozens to tens of thousands. (His sociological expertise in analysing individuals’ employment histories were also transferable to analyse the blood donations over a lifetime.)
That diagnostic tool, known as the Cambridge-Hoskin Restless Legs Questionnaire became the standard instrument in most RLS research and has now been used in many studies.
When the large project started in Cambridge looking at the links between genetics and RLS, they initially used an inferior diagnostic question. Professor Burchell convinced them to use the Cambridge-Hoskin Questionnaire, which has now been used in the study that has just been published in Nature Genetics, one of the world’s most prestigious peer-reviewed genetics journals, and widely featured in the media. (See sidebar for links.)
One of the authors of the recently published study, Professor Juliane Winkelmann from the Technical University of Munich, said, ‘For the first time, we have achieved the ability to predict restless leg syndrome risk. It has been a long journey, but now we are empowered to not only treat but even prevent the onset of this condition in our patients.’