Bristol Neuromuscular Research Group

Organisation profile

Organisation profile

The Bristol Neuromuscular Research Group is a group of doctors, healthcare professionals and scientists who are committed to improving the lives of individuals with neuromuscular disorders through research. We have been in existence since 2009. Recently through the generous support from our funders, NHS England and academic institutions we are able to undertake a portfolio of high quality and ground breaking research. 

What we do

As doctors we are responsible for the care of patients and families with neuromuscular conditions in the south west of the UK. As a group, we believe we have a responsibility to improve patient care through research. Success requires collaboration between doctors and scientists, an appropriate infrastructure and funding. 

Having achieved these goals and we are now in the process of consolidating and expanding our research portfolio.

We are also part of the SW Neuromuscular Operational Delivery Network which has been commissioned to deliver specialist neuromuscular clinical services in acute and community settings. This will enable us to embed research into our daily NHS clinical practice across the South West.

Further information about the SW Neuromuscular Operational Delivery Network visit their website at:

Paediatric research

Current Projects

  • End of Life Wishes in young adults with NM conditions - Scoping study. Collaborative study with Prof D Abbott. David Telling grant £24,500
  • End of Life Wishes in young adults with NM conditions - Collaborative study with Prof D Abbott. MDC grant £40000
  • North Star Neuromuscular network - Collaboration with MRC centre. Bristol is an active participant.
  • SMArtnet Neuromuscular network - Collaboration with MRC centre. Bristol is an active participant.
  • Respiratory Endurance in Children with NM conditions. PhD project collaboration with Prof Henderson.
  • Mechanisms of Actin mutations in CTFD. Collaboration with Prof Muntoni.
  • Physician choices in SMARD1 a questionnaire study. A Majumdar , J Fraser
  • Sexuality in Adolescents with Disability and the barriers faced by them. A Literature review. Maddie Fleming
  • BARTH syndrome research.
    • NSCAG status, collaboration with Prof Colin Steward.Muscle involvement (MRS) in children with Barth’s syndrome. Pilot study. Laura Marekham and Sarah Badger
  • 100000 Genome project collaborator.
  • Neuromuscular studies (Neuropathies) - collaboration with Bristol Genetics Laboratory Norman, Greenslade, Forrester, Williams.
  • Neuromuscular studies:(Industry funded studies in DMD):
    • Summit PLC - SMCT 1004 study- PI
    • Summit PLC - SMCT 1005 study- PI
    • Novaratis (CZOL446H2337) a study of zoledronic acid in children with secondary osteoporosis
    • Dystrophin expression in IMD and BMD; a histopathological study (collaboration with F Muntoni)
    • NM Rare disease translational study looking at genomic modifiers in DMD - (Collaboration with F Muntoni NIHR project)
    • Pfizer Study - in preparation
    • BioMarin Study - in Preparation
    • Prosensa study - in preparation
  • Epidimiology of NM conditions in the southwest. Collaboration with Prof Yoav Ben-Shlomo

What are we going to do in the future

We would like to continue to build our research portfolio. We have several themes which we will continue to support. We aim to strengthen existing collaborations.

These themes are:

  • Neuropathy research
  • Barth Syndrome research
  • Duchenne Muscular Dystrophy research
  • Quality of life and end of life
  • Treatments for DMD
  • Gene therapy for DMD
  • Epidemiology of DMD in the SW of the UK

Adult neuromuscular research

In addition to the weekly specialist Neuromuscular and Motor Neuron Disease clinics and regular education sessions offered by the Adult Neuromuscular Team at Southmead Hospital, and as part of the wider Neuromuscular research drive in the South West, we are pleased to announce the inauguration of the adult section of the Bristol Neuromuscular Research Group. The Group is led by Consultant Neuromuscular Specialists, Dr Andria Merrison and Dr Stefen Brady.

The Adult Neuromuscular Team is committed to providing the highest level of evidence based care to patients and we believe that involvement in high quality research is one the keys to driving improvements in patients care.

The aim of the Adult Bristol Neuromuscular Research Group is to forward the understanding and treatment of individuals affected by Neuromuscular disorders through: 

  • Coordinating Neuromuscular research activity locally, fostering and supporting original research in NBT, and participating in large national and international studies.
  • Giving individuals attending our clinics and throughout the Southwest the opportunity to participate in high quality clinical and laboratory based research studies.
  • Collaborating with Neuromuscular charitable bodies, research groups within North Bristol Trust and Bristol University, and with external Neuromuscular researcher groups.

Dr Merrison and Dr Brady have both trained in internationally renowned Neuromuscular research centres in Oxford and London and have a wide range of national and international research experience.

Areas of particular research interest are Motor Neuron Disease, Muscular Dystrophy, Inflammatory Myopathy (Myositis), Myasthenia Gravis and stem cell therapy.

Funding and partners

Our clinical service can be accessed at the South West Neuromuscular Operational Delivery Network (SWNODN) website.

Our funders 

Action Duchenne - funding of £80,000 for research infrastructure.  

David Telling Charitable Trust - grant of £25,000 for end of life research project

Muscular Dystrophy UK

Genomics England 

Our research partners 

Our industry partners



Dive into the research topics where Bristol Neuromuscular Research Group is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

    Pula, S., Urankar, K., Norman, A., Pierre, G., Langton-Hewer, S., Selby, V., Mason, F., Vijayakumar, K., McFarland, R., Taylor, R. W. & Majumdar, A., Feb 2020, In: Neuromuscular Disorders. 30, 2, p. 159-164 6 p.

    Research output: Contribution to journalArticle (Academic Journal)peer-review

    4 Citations (Scopus)
  • cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

    Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M-T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., Albawardi, W., Frémond, M-L., Seabra, L., Doig, J., Blair, N., Martin-Niclos, M. J., Della Mina, E., Rubio-Roldán, A., García-Pérez, J. L., Sproul, D., & 36 othersRehwinkel, J., Hertzog, J., Boland-Auge, A., Olaso, R., Deleuze, J-F., Baruteau, J., Brochard, K., Buckley, J., Cavallera, V., Cereda, C., De Waele, L. M. H., Dobbie, A., Doummar, D., Elmslie, F., Koch-Hogrebe, M., Kumar, R., Lamb, K., Livingston, J. H., Majumdar, A., Lorenço, C. M., Orcesi, S., Peudenier, S., Rostasy, K., Salmon, C. A., Scott, C., Tonduti, D., Touati, G., Valente, M., van der Linden, H., Van Esch, H., Vermelle, M., Webb, K., Jackson, A. P., Reijns, M. A. M., Gilbert, N. & Crow, Y. J., Dec 2020, In: Nature Genetics. 52, 12, p. 1364-1372 9 p.

    Research output: Contribution to journalArticle (Academic Journal)peer-review

    89 Citations (Scopus)
  • Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants

    Forrester, N., Rattihalli, R., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Dick, D., Buxton, C., Greenslade, M. & Majumdar, A., 20 Mar 2020, In: Journal of neuromuscular diseases. 7, 2, p. 137-143 7 p.

    Research output: Contribution to journalArticle (Academic Journal)peer-review

    11 Citations (Scopus)