John Walton Muscular Dystrophy Research Centre

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

30/09/2025

Today we're supporting Awareness Day! 🙌

While we can't reverse LGMD yet, proper care, support, and therapies can make a world of difference. Let's advocate for accessible care for all living with LGMD.


LGMD Awareness Foundation

30/09/2025

Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.

30/09/2025

It's Awareness Day! Help raise awareness by spreading the word.

The Speak foundation made a short video about the importance of the patient international LGMD patient conference, which you can watch here: https://www.youtube.com/watch?v=Jxu2zslMPXE


LGMD Awareness Day - a project of LGMD Awareness Foundation LGMD Awareness Foundation The Speak Foundation

25/09/2025

Today at the FSHD Annual Engagement Day experts from NuTH are giving useful talks on pain management, sleep issues and exercise prescription👩‍⚕️

We're also getting research updates from the lab team on FSHD mechanisms, lab studies and imaging projects👨‍🔬