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Mitochondrial and Neuromuscular Diseases

We want to transform the promise of scientific advances into revolutionary treatments. We hope this restores neuromuscular and mitochondrial health.

This theme brings together two world leading centres in basic and translational research: 

Within the theme, we have experts who are drawn from many disciplines with a common goal of expanding knowledge and being at the forefront of medical breakthroughs. Our team consists of world leaders in:

  • molecular genetics
  • drug discovery
  • diagnostic technologies
  • clinical trials
  • patient registries and databases
  • engagement 

Together we:

Transform the promise of scientific advances into revolutionary treatments.

Drive ground-breaking basic and translational science through interdisciplinary research, engagement and education.

Attract, develop, retain a diverse and inclusive team of outstanding researchers. This promotes creativity, encourages resilience and equips the next generation of global leaders.

Collaborate with other research themes to gain shared perspectives on research. As well as furthering understanding and knowledge. 

Mitochondrial Research Group (MRG)

The MRG is an international centre of excellence at the forefront of basic and clinically driven mitochondrial research.

Our 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. Our three core pillars of research include:

  • clinical research
  • precision medicine
  • discovery therapeutics

Collaborative Research 

Our Centre outputs are underpinned by collaborative team science and have led to interactions with research groups in over 30 countries, with invitations to participate in, or lead, multiple national and international consortia (e.g. IMI PREFER). 

Our Centre outputs have resulted in approaches from industry to collaborate on drug development and clinical trial design culminating in  funding of >£3.5 million over the last 2 years for trial delivery.

We recognise the importance of both national and international collaboration and have nurtured numerous productive relationships outside of academia including patient organisations, pharmaceutical industry, regulators and healthcare providers. Key partners include: 

  • The Newcastle upon Tyne Hospitals NHS Foundation Trust
  • NHS Highly Specialised Service for Rare Mitochondrial Disease Clinical and Laboratory service funded by the NHS Specialised Commissioners
  • NHS England Genomics Unit through national leadership of the mitochondrial genetic testing strategy
  • National Institute for Health Research (NIHR) including the NIHR Newcastle Biomedical Research Centre
  • National patient organisations, including The Lily Foundation, MDUK, Genetic Alliance UK and Epilepsy Research UK and international patient organisations, including The Mito Foundation (Australia), United Mitochondrial Disease Foundation (USA) and International Mito Patients (IMP).


Research Culture

Our Centre’s ethos is one that actively promotes team science, enables career development, attracts talent and offers support within a positive research culture, where tolerance and inclusiveness are firmly embedded. As a result of this unified sense of community and our international reputation, we continue to build an outstanding multidisciplinary team who drive transformative interdisciplinary research as exemplified by our world-class outputs.

Visit the MRG website >

The John Walton Muscular Dystrophy Research Centre (JWMDRC)

The JWMDRC is an international centre of excellence for diagnosis, management and research into inherited neuromuscular diseases. Our team based at the Translational and Clinical Research Institute, Newcastle University and its associated hospitals, work together towards the development and application of genomic and translational medicine to improve the health outcomes of people living with neuromuscular diseases. The JWMDRC is structured around four important strands of activity:

We pride ourselves on close cross-collaboration between these strands, which is pivotal to our success and impact in the international neuromuscular field. 

Visit the JWMDRC website >

Collaborative Research

The JWMDRC is founded on close links between research and clinical activities. We actively pursue new partnerships with key stakeholders in the neuromuscular field including:

  • international clinical opinion leaders
  • government organisations
  • patient organisations
  • pharmaceutical/biotechnology companies
  • regulators
  • health technology assessment organisations 

Key partners include: 

  • The Newcastle upon Tyne Hospitals NHS Foundation Trust 
  • NHS England Highly Specialised Service for Rare Neuromuscular Disorders 
  • National Institute for Health Research (NIHR) including the NIHR Newcastle Biomedical Research Centre 
  • National Institute for Health and Care Excellence (NICE) 
  • Large pharmaceutical companies involved in developing rare disease programs (such as Pfizer and Roche) and innovative small and medium enterprises (SMEs) (including Audentes Therapeutics and AMO Pharma) 
  • National and international neuromuscular and disease specific patient organisations including Muscular Dystrophy UK, Duchenne UK, Jain Foundation 
  • National networks such as SMA Reach, Northstar and DMD Hub 
  • International networks such as TREAT-NMD and ICGNMD   

The JWMDRC have helped secure over €73 million for collaborative EU projects, and have led numerous funded projects, collaborating with over 22 national and 157 international patient organisations, research institutions and pharmaceutical/biotechnology companies.