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1–3 July 2027 | Brussels, Belgium For the first time, ERN EURO-NMD, ERN-RND and EpiCARE are joining forces to organise a joint scientific conference under the theme “Shaping the Future of Rare Neurological Diseases.” Marking the 10th anniversary of the European Reference Networks, this landmark event will bring together more than 400 clinicians, researchers, healthcare professionals, patient representatives and European stakeholders to exchange knowledge, strengthen collaborations and explore the future of rare neurological care and research. The scientific programme will focus on four key themes: Genetic Testing & Screening, Innovative Genetic Therapies, Clinical Trials & Translational Research, and Multidisciplinary Management. Save the date and stay tuned! More details about the programme and registration will follow soon.
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The EURO-NMD Registry is expanding its reach! Healthcare providers across Europe, including those not affiliated with ERN EURO-NMD, can now contribute to this European initiative dedicated to improving care and advancing research in rare neuromuscular diseases. Since its launch in 2024, the registry has brought together 30 centres across 16 EU countries, with nearly 1,000 patients enrolled. By joining, healthcare providers can contribute to a stronger European research network, access valuable data analysis tools and quality indicators, and support a better understanding of rare neuromuscular diseases and patient outcomes. Interested in participating? Discover the requirements and how to get involved on the EURO-NMD Registry Hub website or contact registry@ern-euro-nmd.eu.
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53 participants from 14 countries gathered in Marseille from 21 to 24 October 2026 for the 3rd Summer School on Multidisciplinary Management of Neuromuscular Diseases, jointly organised by EURO-NMD and FILNEMUS. This successful edition brought together students, early-career healthcare professionals, experts and patient representatives for four days of learning, knowledge exchange and international collaboration. Through expert-led lectures and interactive workshops, participants explored the latest advances and best practices in multidisciplinary neuromuscular care. Particular attention was given to the patient perspective, including the psychological and social impact of neuromuscular diseases and the role of EURO-NMD Patient Journeys in promoting coordinated, person-centred care. A warm thank you to everyone who contributed to making this third edition a success!
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The EURO-NMD CPMS Days return this autumn with four multidisciplinary case discussion sessions dedicated to key neuromuscular disease areas: - 17 November – Neuromuscular Pathology
- 16 December – Muscle Diseases
These live sessions bring together clinicians and experts to discuss complex cases through the Clinical Patient Management System (CPMS) and provide focused multidisciplinary feedback. Clinicians presenting a case during a CPMS Day are eligible for a €400 reimbursement under the EURO-NMD reimbursement scheme. An active CPMS account is required to participate and submit a case.
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EURO-NMD is pleased to continue its collaboration with the European Molecular Genetics Quality Network (EMQN) and will cover the registration fees for up to 30 genetic laboratories affiliated with EURO-NMD Healthcare Providers participating in the 2027 Neuromuscular Disorders External Quality Assessment (EQA) Scheme. The scheme includes DMD/BMD Targeted Testing, NMD Gene Panel Testing, or a combination of both. Registration for the 2027 scheme is now open, with a deadline of 30 November 2026. Interested laboratories should: - complete the EURO-NMD Expression of Interest form: https://tally.so/r/GxjQRj
- register through the EMQN website by 30 November 2026
Please note that the fee waiver can only be applied to laboratories that have submitted their EMQN ID to EURO-NMD through the dedicated form. For further information, please contact Carla D’Angelo at c.dangelo@ern-euro-nmd.eu.
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"A path through the jungle: the flowchart of the ERN-RND to help navigate the complexity of atypical Parkinson syndromes & genetic Parkinson’s disease"
Join us on 3 November 2026, from 3:00 to 4:00 pm CET, for an upcoming webinar featuring Virginia Maltese, David Crosiers and Vasilios Constantinides, experts from University Hospital Würzburg (Germany), Antwerp University Hospital (Belgium) and Eginition Hospital, National and Kapodistrian University of Athens (Greece).
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Join us on 17 November 2026, from 3:00 to 4:00 pm CET, for a webinar on Deep Brain Stimulation (DBS) in GNAO1-related disorders, presented by Katerina Bernardi from Boston Children’s Hospital (USA). This session will explore the role of DBS, a neurosurgical treatment that uses electrical stimulation of specific brain areas, in managing severe movement disorders associated with GNAO1-related conditions.
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A new study published in the Orphanet Journal of Rare Diseases highlights the importance of involving patients, caregivers and healthcare professionals in shaping research priorities for spinal muscular atrophy (SMA). Led by SMA Europe, this European initiative brought together over 900 participants from 22 countries to identify the Top 10 unanswered research questions in SMA. Key priorities include neuromuscular regeneration, biomarkers, nutrition, physiotherapy and fatigue management. The findings underline the importance of patient-centred research and provide valuable guidance for researchers and funders to address unmet needs and improve quality of life for people living with SMA. Journal: Orphanet Journal of Rare Diseases Publication details: Online publication Publication date: 10 September 2026 Article type: Review DOI: 10.1186/s13023-026-04588-9
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A new paper published in The Lancet Regional Health – Europe highlights the important role of European Reference Networks (ERNs) in strengthening crisis preparedness and protecting people living with rare and complex diseases during health emergencies. Drawing on lessons learned from the COVID-19 pandemic and the war in Ukraine, the publication examines the challenges faced by rare disease communities during major crises and proposes a 10-point crisis preparedness plan specifically designed to ensure continuity of care for these vulnerable populations. The recommendations address key areas including cross-border coordination, access to highly specialised care, digital infrastructure, patient education, continuity of medicines and medical devices, and stronger integration with national emergency services and non-governmental organisations. The paper also highlights the added value of ERNs in responding to difficult circumstances and calls for their role to be more formally integrated into European health emergency preparedness and response mechanisms.
Journal: The Lancet Regional Health – Europe Publication details: Volume 69, Article 101801 (2026) Publication date: 8 August 2026 Article type: Open Access DOI: https://doi.org/10.1016/j.lanepe.2026.101801
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A new paper published in the Journal of Neuromuscular Diseases highlights how the Solve-RD collaborative research framework has helped improve the diagnosis of patients with rare neuromuscular and neurological diseases who previously remained without a molecular diagnosis. Funded under the EU Horizon 2020 programme, Solve-RD brought together clinical experts, geneticists and bioinformaticians from across Europe to systematically reanalyse existing genomic data and apply advanced multi-omics technologies, including long-read genome sequencing, RNA sequencing and optical genome mapping. Among 3,788 previously undiagnosed families with rare neurological or neuromuscular diseases, continued reanalysis and additional diagnostic approaches ultimately provided a molecular diagnosis for 575 families, corresponding to an overall diagnostic yield of 15.2%. The study demonstrates the value of combining expert collaboration, systematic data reanalysis, data sharing and harmonisation, and innovative genomic technologies to solve complex rare disease cases and identify new pathogenic variants and disease mechanisms. Journal: Journal of Neuromuscular Diseases Publication date: 15 July 2026 Article type: Review article – Open Access Publication: OnlineFirst DOI: https://doi.org/10.1177/22143602261460689
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The EURORDIS Black Pearl Awards will return on 15 February 2027, bringing together the rare disease community in Brussels and online to celebrate outstanding achievements, dedication and collaboration. Organised by EURORDIS – Rare Diseases Europe around Rare Disease Day, the Awards recognise patient advocates, organisations, healthcare professionals, researchers, policymakers and others making a meaningful contribution to the rare disease community. The event will once again be held in a hybrid format, with participation possible in Brussels or online. ERN EURO-NMD is pleased to support the 2027 edition as an Outreach Partner. 15 February 2027 | Brussels & Online
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4–5 March 2027 | Prague, Czech Republic & Online Organised by SMA Europe, the 2nd International Clinical Care Symposium on Spinal Muscular Atrophy (SMA), titled “Musculoskeletal Care in SMA: From Research to Rehabilitation”, will bring together international clinicians, researchers, patient advocates and industry representatives. The symposium will explore the latest advances and challenges in musculoskeletal care for people living with SMA, focusing on spinal and joint health, mobility, rehabilitation and long-term patient outcomes. Through multidisciplinary discussions, the event aims to promote collaboration, share best practices and explore innovative approaches to improving care for people living with SMA.
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10–12 March 2027 | Budapest, Hungary The 9th edition of the RE(ACT) – Rare Disease Research Congress will bring together researchers, healthcare professionals, patient representatives and key stakeholders from around the world for three days of scientific exchange and collaboration. Co-organised by ERDERA and IRDiRC, in partnership with EURORDIS and Rare Diseases International (RDI), the Congress will highlight advances in rare disease research, encourage international collaboration and explore ways to translate scientific discoveries into meaningful improvements for patients. With a strong emphasis on patient involvement and unmet medical needs, the event offers a valuable opportunity to connect and help shape the future of rare disease research. Save the date: 10–12 March 2027 in Budapest!
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ERN EURO-NMD invites healthcare professionals to participate in a survey on nutritional care in Spinal Muscular Atrophy (SMA), aimed at identifying current clinical practices, knowledge gaps and unmet needs. Developed as part of the upcoming ENMC Workshop “Nutrition in Spinal Muscular Atrophy: Improving Care and Harmonizing Outcomes Across the Lifespan”, taking place from 22 to 24 January 2027, the survey findings will help inform discussions on nutritional monitoring, clinical outcomes and multidisciplinary care approaches. The survey takes approximately 8–10 minutes to complete. While one response per centre is preferred, multiple responses are welcome when participants have different professional backgrounds, providing valuable complementary perspectives. The survey may also be forwarded to qualified colleagues or relevant allied healthcare professionals. Deadline: 1 December 2026
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A new international collaborative study aims to improve understanding of Mitochondrial Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE), a rare mitochondrial disease, and support the development of future clinical trials. Led by researchers from the University of Cambridge and the University of Bologna, the study will collect valuable natural history data to better understand disease progression and identify appropriate clinical and biochemical outcome measures for future treatments. Researchers and patients are encouraged to learn more about the study and explore opportunities for collaboration. Learn more about the study (NCT07627217) or contact add-tr.mitoteam@nhs.net for further information.
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The European Rare Diseases Research Alliance (ERDERA) has announced its upcoming 2027 Joint Transnational Call, expected to open on 1 December 2026. Under the theme “Catalysing Collaborative Research for Recently Identified Rare Diseases”, the call aims to support international research projects focusing on disease mechanisms, biomarkers, natural history studies and disease models, laying the groundwork for future therapies. Researchers, healthcare institutions and patient organisations are encouraged to collaborate, with active patient involvement expected from the early stages of project development. Key dates: Information webinar on 14 December 2026, pre-proposal deadline on 1 February 2027, and provisional full proposal deadline on 24 June 2027.
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