Neuromuscular disease, rare diseases and mitochondrial dysfunction
Rare diseases (RD) present unique challenges for patients and their families. They also represent, however, an area of
significant emerging opportunity through the development of novel therapies and diagnostics.
Newcastle is a world-leading centre for the study and treatment of RD. Newcastle has made a major investment in the area of rare disease with the creation of a cross-disciplinary Centre for Rare Disease.
Our work in Neuromuscular Disease and Mitochondrial Dysfunction, the disease focus of this theme, is at the heart of the
Newcastle Centre. The strategic rationale of this theme is to systematically develop and evaluate novel approaches to diagnosing, monitoring and treating neuromuscular disease (NMD) and mitochondrial dysfunction, and to extend the application of these technologies across the broader spectrum of RD using the unique opportunity offered by the Newcastle Centre.
Who we work with
The John Walton Muscular Dystrophy Research Centre performs world class translational research to bring diagnosis, care and therapy to people with neuromuscular disease.
It brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases. A team based at Newcastle University and Newcastle Hospitals NHS Foundation Trust work together towards the development and application of genomic and translational medicine to improve the health outcomes of people living with neuromuscular diseases.
The WCMR is an international centre of excellence at the forefront of basic and clinically driven mitochondrial research.
Their vision is to transform the lives of those affected by mitochondrial dysfunction through the delivery of novel, life changing, precision therapies developed though our own pipeline of innovative laboratory research. Their three core pillars of research include:
- clinical research
- precision medicine
- discovery therapeutics