Skip to main content

Mitochondrial and Neuromuscular Diseases

Mitochondrial and Neuromuscular Diseases

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

We have experts drawn from many disciplines. Their common goal is to expand knowledge and be 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. 

Wellcome Centre for Mitochondrial Research (WCMR)

The WCMR is an international Centre of excellence. It is at the forefront of basic and clinically driven mitochondrial research. Delivering life changing therapies developed through it's own pipeline of innovative laboratory research. The three core pillars of it’s research are:

  • clinical research
  • precision medicine
  • discovery therapeutics

Our research has progressed our understanding of the natural history of mitochondrial disease. This in turn has provided new insights into disease mechanisms. We have identified heritable molecular and clinical biomarkers and developed novel diagnostic techniques. Our gene discovery programme works alongside the NHS Highly Specialised Rare Mitochondrial Disease team. This pairing has led to significant improvements in diagnostics and genetic counselling. More than 90% of all patients now receive a confirmed molecular diagnosis. We have generated new clinical policies and guidelines that have been adopted nationally and internationally. We have established new services including the world’s first licensed clinical pathway for mitochondrial donation.

Our clinical research focuses on growing our longitudinal mitochondrial disease patient cohort (MitoCohort). Begun in 2008 it now includes >1800 patients. Recruited by the three Highly Specialised Centres in the UK (Newcastle (Lead), UCL and Oxford). Since 2017, there have been 26 successful applications to access data and the MitoCohort has been a major of source of recruitment to 10 clinical research studies and trials.

We lead the Newcastle mitochondrial research biobank (NMRB). This Bioresource now holds over >3,500 samples.

Collaborative Research 

Our dissemination and outreach activity strengthens our national and international standing. We strive to ensure that our outputs are FAIR (Findable, Accessible, Interoperable, Re-usable). We have created a Data Outputs Management Manifesto to ensure this.

Our Centre interactions with other research groups in over 30 countries. With invitations to participate in, or lead, multiple national and international consortia. These include the IMI PREFER [add hyperlink]). Our industry collaborations in drug development and clinical trial design culminating in funding of >£3.5 million over the last 2 years.

We have nurtured productive relationships outside of academia. Including patient organisations, pharmaceutical industry, regulators and healthcare providers. We have demonstrated positive effects on health, quality of life, public services and society. Key partners are: 

  • The Newcastle upon Tyne Hospitals NHS Foundation Trust
  • the Highly Specialised Rare Mitochondrial Disease Clinical and Laboratory service funded by the NHS Specialised Commissioners
  • the NHS England Genomics Unit through national leadership of the mitochondrial genetic testing strategy

WCMR Environment 

Our Centre’s ethos promotes team science, enables career development and attracts talent. It offers support within a positive research culture, where tolerance and inclusiveness are embedded.
Research Culture Lead: Charlotte Alston.

All our researchers whether academic or clinical are given bespoke PI training. This starts from our early career researchers through to fellows and beyond. This develops leadership & management skills as well as a more strategic approach to their careers. We offer academic mentorship and run monthly early career scientist meetings. The success of our training is shown by our track record of prestigious fellowships.
Early career leads: Nicola Lax and Daniel Erskine.


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. 

Members of the John Walton Muscular Dystrophy Research Centre wave their hands in the air wearing different coloured medical gloves.

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, and 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.