Spotlight on treating Duchenne muscular dystrophy


Newcastle University is continuing to build on its long and distinguished track record in pushing the boundaries of what is known and understood about how to treat rare neuromuscular diseases.

The research and clinical practice, pioneered by the internationally renowned neuromuscular group based at the Institute for Genetic Medicine and part of the MRC Centre for Neuromuscular Diseases, has already helped double the life expectancy of boys born with Duchenne muscular dystrophy (DMD).

In the 1960s, boys with the condition – which occurs once in every 3,500 male births and causes severe muscle weakness leading to heart and breathing problems – lived until they were aged just 14 or 15. Today, young men with DMD can live to around 30 years of age. This significant improvement in length and quality of life is supported by patient care guidelines developed by an international working group led by Newcastle’s Professor Kate Bushby, who is recognised as one of the world’s top medical specialists in DMD research and treatment.

Now the team of over 70 experts, led by Professors Bushby and Volker Straub, has formed the John Walton Muscular Dystrophy Research Centre, where work will continue on the development of translational research, innovative clinical trials and international networking which currently involves over 13,000 patients in more than 30 countries.

The group is also calling for more investment in research for treatments into rare diseases after its recent study, published in Neurology in 2014, revealed the full cost of DMD to the international economy ( Professor Bushby said: “The direct cost of the illness across four countries is at least eight times higher than the average health expenditure per person. This is a very significant finding for current health care planning for rare diseases, as well as the context for the innovative therapies under development.”