There are between 6-8000 rare diseases (RD). These are largely genetic diseases, often affecting multiple organ systems and typically presenting in childhood. 95% of RD have no dedicated treatment option.
Newcastle is a world-leading centre for the study and treatment of rare diseases and is home to the Newcastle Centre of Research Excellence for Rare Disease (NUCoRE RD), which unites almost 100 experts from across Newcastle University and Newcastle Hospitals – working collaboratively to improve the lives of people living with a rare disease.
The NIHR Newcastle BRC’s research theme in neuromuscular disease, rare diseases and mitochondrial dysfunction sits at the heart of this world-class environment.
Our research theme is led by Professor Volker Straub, director of the John Walton Muscular Dystrophy Research Centre (JWMDRC) and Professor Grainne Gorman, director of the Wellcome Centre for Mitochondrial Research.
The Wellcome Centre for Mitochondrial Research carries out a huge breadth of research to address questions regarding mitochondrial disease and dysfunction. Their aim is to transform the promise of scientific advances into revolutionary treatments that restore mitochondrial health.
The John Walton Muscular Dystrophy Research Centre (JWMDRC) works towards the development and application of genomic and translational medicine to improve the health outcomes of people living with neuromuscular diseases.
Duchenne muscular dystrophy (DMD) is a rare, genetic muscle-wasting disease, which affects around 2,500 patients in the UK and 300,000 worldwide.
There is no cure for DMD, which is mostly diagnosed in boys and sadly limits life expectancy. Effective drug treatments are essential to improve quality of life.
Through support from the Newcastle BRC and similar partners, the John Walton Muscular Dystrophy Centre is part of a network of DMD hub sites, set up by Duchenne UK, to support the delivery of clinical trials.
It is one of only two sites in the country which has centre of excellence status and has a world-renowned reputation.
Previously, clinical trials and studies were often turned away from the UK due to lack of capacity. Since the DMD Hub’s launch, hundreds of boys are now taking part in research across the UK.
Last year, the first boy in the UK was treated in a gene therapy clinical trial at Newcastle. Four-year-old Charlie from Aberdeen, whose nearest trial centre is 150 miles away in Glasgow, was able to take part in the trial by using the DMD Hub’s central recruitment database.
The founders of Duchenne UK, the UK’s leading DMD charity, said:
“The collaboration between NIHR Newcastle BRC, JWMDRC and Duchenne UK has fundamentally changed the landscape for DMD clinical trials in the UK, offering hope to thousands of patients. We are grateful for the support of the BRC and look forward to continuing our collaboration with them in the future.”