Dear readers,

As 2024 approaches its end, we are proud to reflect on another transformative year for ERN EURO-NMD. Through the concentration of expertise and resources, and with unwavering dedication and a shared commitment to collaboration, we continue to advance our mission to improve the lives of those affected by rare neuromuscular diseases.

Wishing you a joyful holiday season and a successful New Year ahead!

Kind regards,
The ERN EURO-NMD Coordination Team

A Year of Growth and Impact

Webinars: A Growing Platform for Knowledge Sharing 

We are pleased to see the EURO-NMD webinar series flourish and grow from year to year. This ongoing success can be attributed to the dedication of our expert speakers and the active engagement of our participants. Thanks to this, the webinars have become the keystone of our knowledge-sharing initiatives.

Key Figures for 2024

• 30 webinars delivered
• 34 speakers sharing their expertise
• 5 webinar series hosted
• 3,250 registrations received
• 2,000 participants actively engaged

We would like to express our sincere gratitude to the vibrant community that supports these events, and we are optimistic about achieving even greater success in 2025!

More info on webinars here! 

Key Achievements for the EURO-NMD Registry in 2024

This year marked a significant milestone with the launch of the first unified registry for rare neuromuscular diseases in Europe.

The registry integrates a Central Registry with a FAIR-compliant federated infrastructure, enabling seamless data sharing and joint analyses across multiple sources. By consolidating standardised data from across the network into an interoperable system that connects with existing resources, the EURO-NMD Registry lays a foundation for:

• Improving clinical care and aligning practices across Europe
• Enabling large-scale, cross-border research to drive progress in both clinical knowledge and...

We are pleased to announce a vacancy for a Project Manager within the ERN EURO-NMD Coordination Office, based in Paris at Pitié-Salpêtrière Hospital.

The position involves the management of a well-established EU funded project – The European Reference Network for Rare Neuromuscular Diseases, as well as helping with other EU projects the ERN is involved in. The successful candidate will collaborate with ERN members, liaise with the European Commission, and work closely with the AP-HP (Assistance Publique - Hôpitaux de Paris) to ensure the successful execution of the project and drive impactful initiatives in the field of rare neuromuscular diseases.

We are looking for someone who:

• Holds a PhD in science or equivalent advanced degree
• Has proven experience in European project management or familiarity with EU-funded initiatives, particularly in the field of rare diseases.
• Is fluent in both French and English to enable effective communication with different stakeholders.

This is a unique opportunity to contribute to a meaningful mission, supporting research, patient care and collaboration in the rare disease community.

Don't miss the final episodes of the EURO-NMD Neuromuscular Neuropathology Webinar Series:

Thursday 09 January 2025 16:00 CET

Episode 8: “The role of biopsy in Autophagic Myopathies” delivered by Dr. Teresinha Evangelista (Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France)
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Thursday 16 January 2025 16:00 CET

Episode 9: “The role of biopsy in acquired myopathies, other than inflammatory myopathies” delivered by Prof. François-Jérôme AUTHIER (Henri Mondor-Hospital - AP-HP, Paris, France)

The ERN EURO-NMD Working Group on Peripheral Nerve Diseases is pleased to present a Webinar series dedicated to Dysimmune and inflammatory neuropathies. This seven-episode series brings together clinicians, researchers, and patients to discuss a range of neuropathies and address key topics, including (but not limited to) challenges in diagnosis, advances in treatment, guidelines, emerging biomarkers, electrodiagnostic patterns, and the role of imaging in clinical practice.

For the final episode, we invite you to participate in a Q&A session dedicated to Quality of life and management of disability in dysimmune and inflammatory neuropathies, where a clinician and a patient will answer questions submitted in advance through the form provided below. Anyone interested in the topic, including patients, is welcome to submit a question. Please keep your question succinct, relevant to the topic, and avoid personal or case-specific details.

To submit your question, please click on this link: https://forms.office.com/e/k04Jy1udB5?origin=lprLink

Schedule and topics available here 👉️ EURO-NMD Webinar Series on Dysimmune and inflammatory neuropathies! - European Reference Network

🗓️ Starting from January 23, 2025!

The RE(ACT) Congress and IRDiRC Conference 2025, held jointly by the BLACKSWAN Foundation and the International Rare Diseases Research Consortium (IRDiRC). From March 5th to 7th, we gathered in the vibrant city of Brussels for an unparalleled exchange of knowledge and ideas.

Continuing the legacy of the esteemed IRDiRC Conference series (now in its 6th edition) and the RE(ACT) Congress series (celebrating its 8th edition), this convergence served as a beacon for scientific innovation.

Our assembly comprised visionary leaders, distinguished experts, and emerging talents from diverse scientific domains, converging to unveil groundbreaking research, foster dialogue, and shape policies crucial to rare disease research.

Following the successful and vibrant meetings in 2014 and 2018. William Newman, President of the ESHG, invite us back to Milan, Italy from Saturday May 24-27, 2025 for the next European Human Genetics Conference.

The program will reflect the broad church of our membership with educational sessions, symposia of selected abstracts, invited speakers and posters. Look out for fellowship opportunities for our younger Society members.

The hybrid conference allows participation from those unable to make it to Italy, ensuring access is as wide as possible. However, if at all possible, to already pencil the dates into your diary and make the trip to Italy. Embrace this opportunity to hear the best science in person but also develop collaborations and speak to our sponsors and exhibitors to learn of the new technological, commercial offerings. Enjoy the chance to catch up with friends and colleagues, attend the social events and make the Milan meeting in 2025 an unforgettable memory.

Abstract submission
🗓️ Submission Deadline: Thursday, January 30, 2025

The 16th European Paediatric Neurology Society (EPNS) Congress will take place from July 8–12, 2025, in Munich, Germany, at the International Congress Center (ICM). This major event will bring together experts in paediatric neurology from around the world to discuss the latest advancements in the field.

The program will feature various sessions, including plenary talks on topics such as acute brain attack, movement disorders, and neuroimmunology. There will also be parallel sessions and early morning teaching sessions on areas like ketogenic dietary therapies, epilepsy, and ethics in paediatric neurology.

Learn more about the stimulating programme and SUBMIT your ABSTRACT (closes 15 January 2025): https://epns-congress.com/

Within the EU-Horizon Europe CoFund Project “ERDERA, European Rare Diseases Research Alliance”, a medical research assistant is available in the team of Gisèle Bonne, at the Centre of Research in Myology (Sorbonne Université-Inserm, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France).

Aim of the position

The mission of the ERDERA is to transform rare disease research and care in Europe. By building on the achievements of previous partnerships’, ERDERA will: i) enhance collaboration, align research funding and enable optimal integration of EU and national rare diseases strategies and plans; ii) bridge the huge gap that hampers the translation of research results into cost-effective solutions that reach patients, and iii) help reduce the fragmentation of knowledge and data and evolve towards a holistic approach to research and innovation in rare diseases. In this context, the candidate will be in charge of the extension and upgrade of the recently established Treatabolome database, i.e., a database of currently known “treatable genes” and associated treatment strategies for Rare Diseases by literature review and data-mining approaches with curation by expert clinicians.