John Walton Muscular Dystrophy Research Centre

30/04/2026

Are you interested in uncovering why muscles weaken and fail in rare genetic diseases—and how this knowledge could help develop future therapies?

We have a new PhD project focuses on hereditary myopathy with early respiratory failure (HMERF), a rare inherited muscle disorder caused by mutations in the titin gene.

In this project, you will generate cutting‑edge human muscle cell models carrying disease‑causing titin mutations and use them to investigate how these genetic defects disrupt cellular energy production and trigger metabolic and mitochondrial stress.

Join our team and a great project for anyone interested in muscle biology, mitochondria, metabolism, and rare disease research!

Find out more: https://www.findaphd.com/phds/project/mechanistic-dissection-of-metabolic-and-mitochondrial-stress-pathways-in-a-titin-related-myopathy/?p196335

PhD Project - Mechanistic dissection of metabolic and mitochondrial stress pathways in a titin-related myopathy at Newcastle University, listed on FindAPhD.com

23/04/2026

Last month, The Duchenne Hub hosted a successful educational workshop bringing together UK healthcare professionals involved in clinical trials.

Discussions covered current and upcoming trials, gene therapies, and the transition from paediatric to adult services, alongside a ‘challenging conversations’ session led by the Communication and Leadership Academy.

Read more here:

Duchenne Hub hosts interactive educational workshop at St James’ Park Last month, the Duchenne Hub hosted a successful interactive educational workshop at St James’ Park, bringing together healthcare professionals involved in Duchenne muscular dystrophy (DMD) clinical trials from across the UK. ...

01/04/2026

Congratulations to the team for a new paper published! 🎉

🧫 By combining advanced co-culture systems, secretome profiling, and 3D engineered muscle models, we investigated how muscular dystrophy ( )-derived FAPs inhibit myogenesis.

🎯 We identified one of the complement system regulators, C4BPA, as a key factor enriched in DMD conditions and demonstrated that it directly impairs myotube formation and reduces contractile function in 3D muscle tissues, while its silencing partially restores myogenic capacity.

These findings uncover a novel mechanism of muscle degeneration and highlight C4BPA as a promising therapeutic target, helping to advance strategies aimed at modulating the pathological niche in DMD and slowing disease progression 💪 .

Thanks again to our colleagues Ainoa Tejedera Villafranca, Xiomara Fernández Garibay, PhD, Juan M. Fernández Costa and Javier Ramon Azcon from Institute for Bioengineering of Catalonia (IBEC) for their amazing work developing the 3D system 👏

https://www.nature.com/articles/s41419-026-08588-2?utm_source=rct_congratemailt&utm_medium=email&utm_campaign=oa_20260331&utm_content=10.1038/s41419-026-08588-2

31/03/2026

Check out the latest PaLaDIn Newsletter March 2026 to catch up on recent work on the project and developments in the Interactium platform! 👀

What’s in this edition? Promptly Health and PaLaDIn collaborate to build the Interactium® PaLaDIn at TREAT-NMD’s 8th International Conference in Lisbon PaLaDIn and Rare Disease Day 2026 PaLaDIn at Parent Project Italy’s 23rd International Conference in Rome FSHD Europe and TREAT-NMD collabora...

25/03/2026

One of our Strand Leads, Prof Michela Guglieri, presenting "gene therapy in muscle diseases" as part of a series of seminars in Padova on neurology topics; “martedì della clinica neurologica” meaning "Tuesdays of the neurology clinic" 😀

20/03/2026

📢 Another paper to celebrate! This one, authored entirely by members of the JWMDRC, aims to provide insight into how mobility, age, and diagnosis may affect health-related quality of life in adults with neuromuscular disease 👏

https://www.neurology.org/doi/pdf/10.1212/CPJ.0000000000200590

20/03/2026

📢 We are pleased to announce a new publication "Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies" which aimed to establish accurate genotype–phenotype correlations for LGMDR3, LGMDR4, and LGMDR5 👏

https://onlinelibrary.wiley.com/doi/10.1002/acn3.70361

Objective Sarcoglycanopathies are among the most severe limb-girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense vari...

09/03/2026

We’re delighted to be at Muscular Dystrophy UK’s Birmingham Information Day on Saturday 14 March – a free, in-person event for adults and parents of children living with a muscle wasting or weakening condition.

We will be representing the John Walton Muscular Dystrophy Research Centre and hosting a table on the day to highlight the work of our Registries Team and our patient registries, which collect data from people with muscle wasting conditions to help drive research.

Sign up to the day here: https://www.musculardystrophyuk.org/support/events/birmingham-information-day-2026/

04/03/2026

We are thrilled to announce that our paper has just been accepted in the Journal of Neuromuscular Disorders 🙌

This has been a fantastic effort bringing the efforts of patient community, registry and researchers together to learn more about liver health in MTM-CNM patients

https://www.sciencedirect.com/science/article/pii/S0960896626000568

02/03/2026

📢 Congratulations to the team for a new paper published, "Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study" 👏

This paper provides an evidence base to inform clinical surveillance strategies and care recommendations, and aims to support the design and interpretation of clinical trials in

https://jnnp.bmj.com/content/early/2026/02/27/jnnp-2025-337953

28/02/2026

💜🌏Today is Rare Disease Day!🌍💜

Together, we stand with the 300 million people worldwide living with rare diseases. In uniting on this day we can raise awareness, advocate for change, and promote a more equitable future!

https://rarediseaseday.org

13/01/2026

📢 We are pleased to announce the launch of a new academic initiative aimed at characterizing multisystem proteinopathies (MSPs)

The primary aim of this study is to assemble one of the largest retrospective cohorts of patients with MSPs. We invite colleagues worldwide (Africa, Asia, Europe, North America, South America, and Australia) who have diagnosed patients with genetic variants in MSP-associated genes to participate in this international collaboration.

To find out more and express interest: https://jwmdrc.org/about-us/latest/launch-of-new-academic-initiative-aimed-at-characterizing-multisystem-proteinopathies