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our Spring School “Next Generation Sequencing Diagnostics for Rare Neurological Diseases” has started, with more than 200 attendees from more than 60 countries! And there is one mor day to go: tomorrow all the talks will focus on Clinical Applications of NGS and you can still register - don't miss it and joins us online (free of charge,programme)!
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And as May marks both Huntington’s Disease (HD) Awareness Month and Dystonia Awareness Day on May 30, we' d like to spotlight activities around this important initiatives: the European Huntington Association is organizing the webinar "Get Involved. The Power of Volunteering in the HD Community" on May 7 and has also started a new campaign "Moving Forward. HD: My first Time" that aims for people to share their first experience stories on living with HD. And this year's Dystonia Day Conference will be held in Malmö, Sweden on May 30 - you can register till May 22. And if you dont know them yet: check out our Patient Journeys for Huntington's Disease and Cervical Dystonia!
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And as always you will find information on our upcoming webinars and further events. Enjoy reading!
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Best wishes,
The ERN-RND Coordination team
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CONTENT
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About us
Disease Knowledge
ERN-RND Webinars
Cross-border Healthcare
ERDERA Learning Portal
Huntington's Disease Awareness Month
Dystonia Day
Upcoming Events
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ABOUT US
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#1MoreDay 7th ERN-RND Spring School: Next Generation Sequencing Diagnostics for RND
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Register now to join our Spring School “Next Generation Sequencing Diagnostics for Rare Neurological Diseases” taking place on May 5–7. The event is held online, and participation is free of charge.
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To register click here. To download the programme click here.
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ERN Flagship Manuscript Published
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Short summary
Although each rare and complex disease affects relatively few people, together they impact an estimated 27–36 million people in the European Union. To address this major public health challenge, the EU established the European Reference Networks (ERNs) in 2017. ERNs connect expert centres across borders to improve and harmonise diagnosis and care for patients with rare and complex diseases. Today, 24 ERNs link 1,606 expert centres in 375 hospitals across all EU Member States and Norway. Their work includes multidisciplinary case discussions, education, guideline development, and patient-centred governance. More than 4,900 highly complex cases have been reviewed without requiring patients to travel abroad, supported by the European Commission’s secure Clinical Patient Management System 2.0. ERNs also proved resilient during the COVID-19 pandemic and the war in Ukraine. A 2023 evaluation found that over 95% of member centres met quality standards. The Joint Action JARDIN (2024–2027) now seeks to embed ERNs into national health systems to ensure sustainable and equitable access to high-quality rare disease care.
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DISEASE KNOWLEDGE
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UPDATED Diagnostic Flowchart for Atypical Parkinsonism and Genetic PD
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Our Diagnostic Flowchart for Atypical Parkinsonism and Genetic PD has been completely revisioned and updated. Please find here the updated version.
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ERN-RND WEBINARS
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Upcoming Joint Educational Webinars
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ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and neuromuscular disorders via a series of webinars presented by expert members of both networks.
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07.05.2026, 4-5 pm CET | ‘Infectious neuropathies, nerve tumours and infiltration: role of neuropathology for diagnosis’ by Mathilde Duchesne, CHU Limoges, France. SIGN UP here. (EURO-NMD)
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21.05.2026, 4-5 pm CET | ‘Instructive clinical cases needing nerve biopsy for diagnosis ’ by Marina Grandis, IRCCS Ospedale Policlinico San Martino – Genova, Italy. SIGN UP here. (EURO-NMD)
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04.06.2026, 4-5 pm CET | ‘Nerve pathology in Neuropathy Models’ by Kleopas Kleopa, Cyprus Institute of Neurology and Genetics (CING). SIGN UP here. (EURO-NMD)
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11.06.2026, 4-5 pm CET | ‘Amyloid neuropathies/therapeutic approaches’ by Andoni Echaniz-Laguna, Université Paris-Saclay – Assistance Publique – Hôpitaux de Paris (AP-HP) Bicêtre Hospital). SIGN UP here. (EURO-NMD)
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18.06.2026, 4-5 pm CET | ‘Skin biopsy for small fibers neuropathy’ by Grazia Devigili, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy. SIGN UP here. (EURO-NMD)
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23.06.2026, 3-4 pm CET | ‘Palliative care in adult patients with neuromuscular and other rare neurological disorders’, by Marianne de Visser, Amsterdam University Medical Center, The Netherlands. SIGN UP here. (ERN-RND)
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30.06.2026, 3-4 pm CET | ‘Friedreich Ataxia’, by Kathrin Reetz, RWTH-University Hospital Aachen, Germany. SIGN UP here. (ERN-RND)
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eanCampus offers monthly webinars, 2 master classes per year and weekly podcasts on 3 expert levels (basic, advanced, expert), in total more than 1000 pieces.
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20.05.2026, tba pm CEST | ‘State of Art in the Diagnosis of Parkinson’s Disease’, by Günter Höglinger, Maria Chiara Malagutti. More information here.
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September, tba pm CEST | ‘Migraine During Pregnancy, Postpartum and Breastfeeding: Understanding the Hormonal Aspect and Implementing Safe Strategies for Acute and Preventive Treatment ’. More information here.
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October, tba pm CEST | ‘Dementia and Cognitive Disorders’. More information here.
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Free Courses for Healthcare Professionals, Caregivers & Family Members
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The Huntington Academy is a multinational, multilingual initiative designed to address the significant gaps in care provision for families impacted by Huntington’s disease (HD). Its mission is to empower the HD community through knowledge, skills, and collaborative learning, fostering improved care, advocacy, and quality of life.
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It is an innovative and comprehensive e-learning platform designed to provide accessible and high-quality educational resources for both formal (healthcare professionals) and informal (family members and friends) caregivers of individuals affected by HD. The Huntington Academy contents are available in four languages – Bulgarian, English, French and Spanish.
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The platform includes two transversal core courses — “What is HD? (HD basics)” and “Communication Skills in HD Care” — and seven domain-specific courses covering key disciplines in HD care (Neurology, Psychology, Nutrition, Physiotherapy, Speech Therapy, Occupational Therapy and Oral Care).
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All the Huntington Academy contents were jointly created by patient organizations, family members and healthcare professionals from the countries involved in the consortium.
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AGI Webinar Series: Preventive Trials for SCAs
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Ataxia Global Initiative launched a new webinar series focusing on preventive trials in the spinocerebellar ataxias (SCAs) — a developing area in ataxia research.
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Preventive approaches build on recent progress in understanding pre-ataxic disease stages and early biomarkers, representing the next step toward earlier intervention. This concept has already been explored in other neurodegenerative diseases, and the series aims to translate these insights to SCAs. See the full program here.
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The webinars will address:
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• The rationale for preventive trials
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• Characterization of the pre-ataxic stage in SCAs
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• Lessons learned from related conditions
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• The potential of emerging biomarkers
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CROSS-BORDER HEALTH CARE
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MLD Treatment Eligibility Panel
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In cooperation with the MLD initiative, ERN-RND established a standard pathway for consulting an international MLD expert panel whenever possible benefits of treatment with hematopoietic stem cell transplantation or gene therapy are not straightforward for a patient with confirmed MLD diagnosis. Upon submission of an eligible case, the treatment eligibility panel is convened on an ad hoc basis, organized and supported by the ERN-RND CPMS helpdesk.
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We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
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You would like to discuss one of your patients with the panel?
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Online Multidisciplinary Board for Deep Brain Stimulation in Dystonia
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ERN-RND has established a standard pathway for providing multidisciplinary expert recommendations concerning Deep Brain Stimulation (DBS) in Dystonia.
Potential questions which the multidisciplinary board may address include (but are not limited to):
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- INDICATION DBS candidate yes/no?
- TARGET Which Target; GPi, STN, VoA?
- PROGRAMMING Treatment advices of implanted patients
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To make use of this opportunity, relevant medical data must be provided via the telemedicine platform CPMS beforehand.
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Advice will be provided by at minimum one dystonia expert specialized in DBS and a stereotactic surgeon specialized in DBS, plus further specialists invited case-by-case in a virtual meeting with the referring clinician.
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Neuroradiology Expert Advice for Diagnostic and Management Decisions in RND
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ERN-RND has established a standard pathway for providing expert neuroradiological advice across sites. Our ERN-RND member hospitals (and affiliated partners) are encouraged to contact us for any RND case for which they would like a second opinion as a basis for individual recommendations for diagnostic and management strategies to optimize patient care.
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Possible scenarios for which clinicians might want to use this offer include (but are not limited to):
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- Child with mild developmental delay: benign / onset of disease? -> cMRI: delayed brain maturation vs. (subtle) structural abnormalities
- Child with delay + subtle signs: acquired / genetic? -> cMRI: acquired disease, e.g. CMV infection / TORCH vs. likely genetic
- Acutely ill patients with suspected encephalopathy -> cMRI: secondary, e.g. infectious / para-infectious vs. metabolic / genetic
- Cerebellar syndrome with fast progression -> cMRI: secondary, e.g., cerebellitis vs. genetic
- Patient after pharmacological treatment showing brain volume reduction -> cMRI: side effects vs. neurodegenerative / neurogenetic disease
To make use of this opportunity, imaging data must be provided via CPMS. Advice will be provided in a virtual meeting between the referring physician plus the initial neuroradiologist and a dedicated ERN-RND neuroradiological expert clinician (and further experts if necessary. Meetings are facilitated by the ERN-RND CPMS helpdesk.
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You are affiliated to an ERN-RND expert center and would like to receive neuroradiology advice for one of your patients?
Please contact us.
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Learn more about the Neuroradiology Expert Advice Panel in this video interview with Eva Bültmann, who is an expert in neuroradiology and coordinates this panel.
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LEARNING PORTAL
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The ERDERA Learning Portal is a new hub bringing together curated courses and learning resources in the field of rare diseases.
Designed for researchers, clinicians, and the broader community, the platform provides easy access to up-to-date training opportunities, with new content continuously added and reviewed.
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HD AWARENESS MONTH
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On Thursday, May 7th at 6:00 PM (CET) the European Huntington Association and the International Huntington Association will host a live webinar to open this year's May HD Awareness Month campaign.
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It is built around a simple question: what does being part of the HD community actually look like — and where might you fit in?
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Date & Time
Thursday, May 7th at 6:00 PM (CET)
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Format
Panel of volunteer voices sharing their experience and answering live audience questions.
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To participate click here.
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Moving Forward - HD: My First Time
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The European Huntington Association has started a new campaign that is built around the moments that stay with you: the first time you noticed something wasn't quite right, the first appointment, the first conversation, the first HD event, the first time you felt seen.
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There is no right way to tell these stories. A few sentences or something longer. In your own words, at your own pace. You are always welcome to stay anonymous.
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And: Do you already know our Patient Journey for Huntington's Disease? The document provides a quick overview over the different stages of the disease as it progresses and adresses challenges as well as goals. And: There is also a more detailed version as a table. The patient journey is in more than 10 European languages available.
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DYSTONIA DAY
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The Dystonia Day 2026 Conference, organized by Dystonia Europe, will take place on 30 May at in Malmö, Sweden, with dystonia patients, their families, caregivers and the medical profession.
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The program will include patient testimony and expert presentations and there will be lots of opportunities to network and connect with others.
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For registration and programme click here.
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And if you haven’t discovered our Patient Journey for Cervical Dystonia yet, we invite you to take a look here — available in over 10 European languages
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UPCOMING EVENTS
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6th International Symposium on Myelin Disorders and X-Linked Adrenoleukodystrophy
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The meeting is dedicated to X-linked adrenoleukodystrophy research and will offer a valuable opportunity to discuss all aspects of diagnosis, treatment and research with colleagues from Europe and beyond. Although substantial progress has been made in recent decades, important questions remain unresolved.
Addressing the challenges ahead will require strengthened international collaboration to enable further meaningful advances. Accordingly, the symposium will also provide a forum to discuss and reflect on future directions in the field.
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Programme and registration here.
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13th European Conference on Rare Diseases and Orphan Products
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June 3-4, 2026, Prague and online
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The next ECRD will be held on 3-4 June 2026 in Prague and will be titled “Rare Diseases in a Changing & Competitive Europe: Shaping policies to address the unmet needs of people living with rare diseases”.
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To register click here. Find the progamme here.
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38th Annual Meeting of EACD
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June 3-6, 2026, Galway, Ireland
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The old Irish wisdom ‘Mol an Óige agus Tiocfaidh Siad’ – Encourage the young and they will flourish – is the theme of EACD 2026. The conference will focus on disability and health through a holistic lens. Taking a lifespan approach and positioning the voice of people with childhood-onset disabilities and their families at the centre of all that we do, we aspire to support people with disabilities to flourish not just now but into their futures.
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Our ePAG Mary Kearney will also give a talk on "From Survey to Practice: Strengthening Transition Pathways in Rare Disorders to Foster Lifelong Participation, Community Integration, and Person-Centred Continuity of Care"
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12th Congress of the European Academy of Neurology
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June 27-30, 2026, Geneva, Switzerland
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EAN's overarching theme for 2026 is Brains, Bytes & Beyond: Tech in Neurology. The outsourcing of cognitive capacities from humans to artificial intelligence offers huge opportunities but also significant challenges and risks. In clinical neurology, the impact of computing will range from applications like restorative therapies to the very fundamentals of our profession such as clinical reasoning and decision making. Through this year’s theme, EAN will explore the extent to which computing is finding its way into neurological practice.
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September 25-26, 2026, Dublin (Ireland)
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For 25 years, the European Federation of Neurological Associations (EFNA) has championed the rights and needs of people living with neurological disorders across Europe. As the burden of neurological conditions continues to rise, there is an urgent need for collaborative, inclusive, and forward-thinking approaches to policy, care, and research.
In response, EFNA is launching its inaugural EFNA Conference in September 2026, coinciding with Ireland’s Presidency of the Council of the European Union. This landmark event will serve as a platform to bring together neurology patients, patient organisations, policymakers, clinicians, researchers and industry representatives to co-create a more inclusive and impactful neurology landscape in Europe.
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EHDN Clinical Research Congress 2026
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October 22–24, 2026, Krakow (Poland)
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The congress will further strengthen the integration of the clinical development programme. As in previous years, the biennial meeting will feature the EHDN Business Meeting, a strong focus on ongoing and upcoming clinical trials, and presentations on cutting-edge scientific advances.
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All sessions will be open to clinicians, scientists, advocates, and family members impacted by Huntington’s disease. The networking and social programme will offer further opportunities to connect, collaborate, and engage across the Huntington’s disease community.
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Have a look at the preliminary programme . Online registration and abstract submission will open in Spring 2026.
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ICAR 2026
November 10-13, 2026, Atlanta, Georgia (USA)
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ICAR 2026 will take place at the Renaissance Atlanta Waverly Hotel & Convention Center in Atlanta, Georgia, U.S. Please save the date for November 10-13, 2026.
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ICAR 2026 will be the place to share the latest ataxia research, including updates on Friedreich's ataxia and SCAs 1, 2, 3, 6, 7, and more. Attendees will hear developments in novel treatment approaches, clinical trial results, and scientific debates from leading ataxia researchers. There will also be the opportunity to network with academic and industry leaders. Special sessions and events are planned for junior researchers.
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NEWSLETTER
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The ERN-RND Newsletter is published monthly. Please forward this newsletter to your colleagues who can also sign up to receive it directly here or by emailing communication@ern-rnd.eu
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Thank you for your support and take care.
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ERN-RND Coordination team
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