John Walton Muscular Dystrophy Research Centre

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

13/01/2026

A new year, a new paper! 🥳

Congratulations to Esther Fernández Simón and the Basic Research team who published a paper recently in the journal "Cell Death & Disease" entitled: "Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy".

In this work, they uncover previously unknown molecular interactions of EGFR that drive muscle degeneration in . By studying the roles of EGF and EFEMP1 in muscle cells, they identify novel mechanisms that help explain fibrosis and muscle dysfunction.

These insights open the door to targeted therapies that could help slow muscle degeneration in 👏

You can see the paper here:

The degeneration of the muscle in muscle dystrophies involves complex interactions among the different cell types. Here, we have used datasets from single-nuclei RNA sequencing (snRNAseq) of Duchenne Muscular Dystrophy (DMD) muscle samples to study the dysregulation of molecular pathways compared to...

21/11/2025

We're very proud to partner with EURORDIS-Rare Diseases Europe on the upcoming 13th European Conference on Rare Diseases & Orphan Products (ECRD). The conference will take place in Prague and online between 3rd-4th June 2026 and they are currently accepting poster abstracts.

ECRD is the largest, patient-led, rare disease policy-shaping event held in Europe. The 2026 conference will be held under the title “Rare Diseases in a Changing & Competitive Europe: Shaping policies to address the unmet needs of people living with rare diseases.”

Find out more information here about the conference and submitting an abstract: https://www.rare-diseases.eu/posters/

11/11/2025

We are excited to announce that applications for expressions of interest are now open to join the PaLaDIn Patient and Caregiver User Group (PCUG).

We are looking for and with a lived experience of a disease to join the PCUG to contribute to the development of patient-centred resources within the PaLaDIn project.

Further information is available here:

We are excited to announce that applications for expressions of interest are now open to join the PaLaDIn Patient and Caregiver User Group (PCUG).

06/11/2025

In Feb 2025, ERN registries, conect4children partners and additional experts held a workshop to explore the current potentiality of the ERN registries for paediatric research and regulatory purposes, to explore gaps and suggest actions to maximise potential.

You can view the report here: https://zenodo.org/records/17531442

16/10/2025

We'd like to congratulate the Jain Foundation on 20 years of promoting research excellence! 👏

Volker Straub, Director of the JWMDRC says "We join the Jain Foundation in celebrating their many successes driving research, particularly building an international community that connects those affected by LGMDR2 and researchers like us. We are proud that the JWMDRC features on multiple milestones on this timeline. We are honoured to continue our strong research partnership with the Jain Foundation. Together we look forward optimistically to the next 20 years of progress as we continue to develop the global community and work together towards translating our knowledge to improve treatment and care."

You can see a timeline of the Jain Foundation leading the search for treatments for dysferlinopathy over the past 20 years here: https://www.jain-foundation.org/about/jf-timeline/

08/10/2025

We have a strong attendance at on its 30th birthday, and this is the last year for our Centre Director, Prof. Volker Straub, as President.

Volker gave the Congress Welcome this morning, inviting everyone to have an enjoyable and productive few days here in Vienna

01/10/2025

📣 New projects from the JWMDRC features in the LGMD News Autumn edition.

This magazine produced for the community by The Speak Foundation is a brilliant resource for all members of the LGMD community 🙌

See page 14 for an article about new projects at our centre!

Sign up here: https://thespeakfoundation.com/limb-girdle-magazine-1