the registration for our 7th Spring School “Next Generation Sequencing Diagnostics for Rare Neurological Diseases” taking place on May 5–7 is now open (online, free of charge). Don't miss it and register now (programme)!
In this issue, you will discover: the official launch of the dissemination of our Patient Journey for Cervical Dystonia — now available in 13 languages, a podcast exploring clinical recommendations for Vanishing White Matter,our Rare Disease Dayvideofocused on equity and access as well as a wide range of new materials on ERNs and factsheets on rare diseases by the European Commission.
And as always you will find information on our upcoming webinars and further events. Enjoy reading!
Best wishes, The ERN-RND Coordination team
CONTENT
About us Disease Knowledge ERN-RND Webinars Cross-border Healthcare Upcoming Events
ABOUT US
7th ERN-RND Spring School: Next Generation Sequencing Diagnostics for RND
The registration for our Spring School “Next Generation Sequencing Diagnostics for Rare Neurological Diseases” taking place on May 5–7 is now open.
The event will be held online, and participation isfree of charge.
During this Spring School, participants will gain insights into:
NGS Technologies
Quality Assurance, Recommendations, and Case Presentations
Clinical Applications of NGS
To register click here. To see the programme click here.
Awareness for Equity on Rare Disease Day 2026
This Rare Disease Day was all about equity. Equity means more than awareness — it means real access. But that is often not given.
For example, hotel rooms labeled “accessible” often still create barriers for wheelchair users, from tight spaces to unusable bathrooms. Our patient advocateLori Renna Linton, who is a wheelchair user herself, often faces problems like that with hotels when she travels.
LAUNCH Dissemination of Patient Journey Cervical Dystonia
With 13 translations of the Cervical Dystonia Patient Journey,we are now officially launching the dissemination of this important resource.
Whether you are a patient, a caregiver, or a healthcare professional, this document provides a clear and accessible overview of Cervical Dystonia — its symptoms, progression, and available treatment options. At the same time, it offers valuable insight into the emotional and psychological experience of living with this rare disease.
Get the patient journeyhere and share it with everyone interested - available languages:
Also, watch and share this short videoon Monica's experience in everyday life with this disease and find out why a patient journey in such cases can be helpful:
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.
05.03.2026, 4-5 pm CET |Autonomic and non-motor symptoms in ALS’, by Ammar Al-Chalabi, King’s College London, UK. SIGN UP here.(EURO-NMD)
12.03.2026, 4-5 pm CET |EXPERTS-ALS – a Bayesian biomarker-led drug screening platform in ALS’, by Martin Turner, University of Oxford, UK. SIGN UP here.(EURO-NMD)
17.03.2026, 3-4 pm CET | ‘Palliative Care for Leukodystrophies and other Rare Neurological Diseases (Pediatric Focus)’ by Nicole Wolf, Amsterdam Leukodystrophy Center, VUMC- Amsterdam University Medical Centers, Netherlands. SIGN UP here. (ERN-RND)
19.03.2026, 4-5 pm CET | ‘Advances in understanding pre-symptomatic ALS: implications for disease prevention’, by Michael Benatar, University of Miami, USA. SIGN UP here.(EURO-NMD)
26.03.2026, 4-5 pm CET | ‘Orthopaedic Complications’, by Philip Henman, The Newcastle upon Tyne Hospitals NHS Foundation Trust, UK. SIGN UP here.(EURO-NMD)
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.
31.03.2026, 3-4:30 pm CET | ‘Basic Statistics for Neurologists’ (Neuroepidemiology), by Rosario Vasta, Yihan Hu, Ruben Van Eijk. SIGN UP here.
14.05.2026, 3-4:30 pm CET | ‘Cerebral Amyloid Angiopathy: Diagnosis, Hemorrhagic Risk, and Vascular Decision-Making in Practice’, by Theodoros Mavridis, Andreas Charidimou, Floris Schreuder. SIGN UP here.
April, tba pm CEST | ‘AI in Neurology: Augmentation or Automation?’, by Harris Sotirakis, Maria Chiara Malagutti. SIGN UP here.
20.05.2026, tba pm CEST | ‘State of Art in the Diagnosis of Parkinson’s Disease’, by Günter Höglinger, Maria Chiara Malagutti. SIGN UP here.
September, tba pm CEST | ‘Migraine During Pregnancy, Postpartum and Breastfeeding: Understanding the Hormonal Aspect and Implementing Safe Strategies for Acute and Preventive Treatment ’. SIGN UP here.
October, tba pm CEST | ‘Alzheimer’s Disease ’. SIGN UP here.
Free Courses for Healthcare Professionals, Caregivers & Family Members
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.
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.
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).
All the Huntington Academy contents were jointly created by patient organizations, family members and healthcare professionals from the countries involved in the consortium.
AGI Webinar Series: Preventive Trials for SCAs
Ataxia Global Initiative launched a new webinar series focusing on preventive trials in the spinocerebellar ataxias (SCAs) — a developing area in ataxia research.
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 programhere.
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.
We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
You would like to discuss one of your patients with the panel?
Online Multidisciplinary Board for Deep Brain Stimulation in Dystonia
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):
INDICATION DBS candidate yes/no?
TARGET Which Target; GPi, STN, VoA?
PROGRAMMING Treatment advices of implanted patients
To make use of this opportunity, relevant medical data must be provided via the telemedicine platform CPMS beforehand.
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.
Neuroradiology Expert Advice for Diagnostic and Management Decisions in RND
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.
Possible scenarios for which clinicians might want to use this offer include (but are not limited to):
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.
You are affiliated to an ERN-RND expert center and would like to receive neuroradiology advice for one of your patients? Please contact us.
Learn more about the Neuroradiology Expert Advice Panel in this video interviewwith Eva Bültmann, who is an expert in neuroradiology and coordinates this panel.
NEUROLOGY PODCAST
Neurology Podcast on Clinical Management of Vanishing White Matter
Our expert center in Amsterdam has participated in Neurology's podcast, talking about the importance of clinical management of Vanishing White Matter. Dr. Justin Abbatemarco talks with Dr. Marjo S. van der Knaap and Romy J. van Voorst about expert consensus recommendations for the diagnosis and management of vanishing white matter and the importance of standardizing care worldwide.
The Ataxia Global Initiative is inviting you to register for the 1st AGI Ataxia Expert Masterclass on Spinocerebellar Ataxias (SCAs), held online on 21–23 April 2026. The masterclass brings together leading international experts to address genetics, disease mechanisms, and trial readiness in SCAs.
Content:The program delivers advanced, up-to-date content with a strong emphasis on research and basic science, covering genetic diagnostics, pathophysiology, therapeutic strategies, and clinical, digital, imaging, and molecular outcomes relevant for clinical trials. SeeFull Program here.
Audience: This masterclass is designed for clinicians and basic researchers working in ataxias and assumes prior foundational knowledge of ataxia characteristics, as gained through NAF/MDS training or comparable clinical or research experience.
6th Internation Symposium on Myelin Disorders and X-Linked Adrenoleukodystrophy
May 8, Leipzig (Germany)
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.
13th European Conference on Rare Diseases and Orphan Products
June 3-4, 2026, Prague and online
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”.
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.
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"
12th Congress of the European Academy of Neurology
June 27-30, 2026, Geneva, Switzerland
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.
For Early bird registration click here. Find the programmehere.
ICAR 2026 November 10-13, 2026, Atlanta, Georgia (USA)
Ataxia UK, National Ataxia Foundation (NAF), Friedreich’s Ataxia Research Alliance (FARA), and Ataxia Global Initiative (AGI) are pleased to announce the date for the nextInternational Congress for Ataxia Research (ICAR).
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.
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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