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register now for the online participation to the Scientific Symposium "European Healthcare for RND Patients" (open to all) on October 28 - find the programme below.
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What else is awaiting you in this issue? A video interview with ERN-RND member David Gomez on a Treatabolome for Dominant Ataxias, an update of the treatment algorithm for focal and generalized Dystonias, a targeted stakeholder's consultation for the EU4Health programme, and several upcoming meetings and webinars we want to highlight: a symposium on cross-bolder healthcare in the region NL-DE, a DBS webinar by Dystonia Europe, as well as an MEP meeting on health literacy organized by EFNA.
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And as always you will find information on our upcoming webinars and 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
Upcoming Events
Participation Call
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ABOUT US
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Scientific Symposium (part of the ERN-RND Annual Meeting) - Registration open
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The registration for our Scientific Symposium "European Healthcare for RND Patients" on October 28 is now open! This will be organised back-to-back with the ERN-RND Annual Meeting (restricted to ERN-RND members). To attend the Symposium (open to all, free of charge) remotely, please register here.
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SESSION 1
Cross-border Access to Highly Specialized Therapies for Ultra-Rare Conditions
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Fetal Surgery as
an ERN example
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“Just like home” Program
at Fondazione Telethon for accessing Gene Therapy
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(Fondazione Telethon Milan)
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EURORDIS’ Lighthouse Concept
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Krabbe Disease Expert Panel
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SESSION 2
Multidisciplinary Case Discussion for Controlling Access and Ensuring Best Possible Outcome for Highly Specialized Therapies
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Epilepsy Surgery as
an EpiCARE use case
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Deep Brain Stimulation –
Pitch and Live Case Discussion
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Metachromatic Leukodystrophy Treatment Eligibility –
Pitch and Live Case Discussion
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SESSION 3
JARDIN I Integration of ERNs into National Healthcare Systems
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Overview and First Results
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Till Voigtlaender (Viena)
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National Reference Networks
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Development and implementation
of ERN care pathways
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Pavla Doležalová (Prague)
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Development of a Treatabolome for Dominant Ataxias - Interview with David Gomez
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For some rare paediatric ataxias treatments do exist, but unfortunately they are not always well-known. In oder to accelerate diagnosis and therefore a faster treatment for patients ERN-RND member David Gomez has been working on a Treatabolome for Dominant Ataxias. Treatabolomes are databases for gene and variant specific treatments that can be consulted by doctors but also patients. In order to set up a database all the evidence in the scientific literature needs to be collected and fed into a database.
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This database is focusing on paediatric autosomal and episodic ataxias and is already being used in clinical practice in Gomez' department with good resutls so far. Learn more about this project and the next steps in our video interview.
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A special issue dedicated to the „Treatabolome” particularly for rare neurological and rare neuromuscular diseases has been published in the Journal Neuromuscular Diseases. Find the publications here.
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Further Information (Solve-RD Treatabolome)
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Find the Solve-RD Treatabolome here.
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FOLLOW US ON BLUESKY
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Add us all, many more will follow!
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DISEASE KNOWLEDGE
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UPDATE Treatment Algorithm for Focal and Generalized Dystonias
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The treatment algorithm for focal and generalized dystonias has been updated. Find the document here.
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UPDATE Past Webinars - Training Resources
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Have you seen our redesigned webinar section on the website yet? You can now search for past webinars by filtering by disease groups and domains. You can also use the free text option to look for speakers or aspects mentioned in the titles.
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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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04.09.2025, 4-5 pm CEST | ‘Acute Onset in Infantile Mitochondrial Disorders’ by Caterina Garone, Department of Medical and Surgical Sciences, University of Bologna, Italy. SIGN UP here. (EURO-NMD)
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11.09.2025, 4-5 pm CEST | ‘Cognitive and Psychiatric Issues in Primary Mitochondrial Disease’ by Guido Urbano, Department of Neuroscience, University of Turin, Italy. SIGN UP here. (EURO-NMD)
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16.09.2025, 3-4 pm CEST | ‘Neurological and Non-neurological Aspects in Palliative Care of FTD and PPA Patients’ by Renate Wahl, University Hospital Aachen, Germany. SIGN UP here. (ERN-RND)
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18.09.2025, 4-5 pm CEST | ‘Overview of Mitochondrial Leucoencephalopathies’ by Anna Ardissone, Child Neurology Unit of the Carlo Besta Neurological Institute, Milan, Italy. SIGN UP here. (EURO-NMD)
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23.09.2025, 3-4 pm CEST | ‘Patient Journeys: Reliable Comprehensive Documents Which Summarize a Rare Disease’ by Petya Mihaylova, Mary Kearney, Irish Consortium: Tallaght University Hospital and Children's Health Ireland & FARA Ireland. SIGN UP here. (ERN-RND)
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25.09.2025, 4-5 pm CEST | ‘Progressive External Ophthalmoplegia (PEO) and Differential Diagnosis’ by Olimpia Musumeci, University of Messina, Italy. SIGN UP here. (EURO-NMD)
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30.09.2025, 3-4 pm CEST | ‘Social and Lifestyle Issues Related to FTD and PPA’ by Alexa Häger, University Hospital Aachen, Germany. SIGN UP here. (ERN-RND)
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28.10.2025, 8am CET | ‘Scientific Symposium European Healthcare for RND Patients’, part of the ERN-RND Annual Meeting Care-RND 25. SIGN UP here. (ERN-RND)
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11.11.2025, 3-4 pm CET | ‘Guidelines on the Assessment and Treatment of Neurogenic Urinary and Sexual Symptoms (NEUROGED Guidelines)’, by Alessandra Fanciulli, Pietro Guaraldi, Medical University Innsbruck, Austria & IRCCS - Institute of Neurological Sciences of Bologna, Italy. SIGN UP here. (ERN-RND)
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18.11.2025, 3-4 pm CET | ‘Recent Advances in Episodic Ataxias’ by Elisabetta Indelicato and David Pellerin, Medical University Innsbruck, Austria, and Miller School of Medicine, Miami, USA. SIGN UP here. (ERN-RND)
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02.12.2025, 3-4 pm CET | ‘Fluid Biomarkers in FTD’ by Domenico Plantone, AOU - University Hospital Siena, Italy. 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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15.09.2025, 18-19 CET I “Multidisciplinary Perspectives on a TTR Amyloidosis: From Nerves to Heart”, by Nicolas Dubuisson, Marianna Fontana, Isabel Conceicao. To register click here.
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25.09.2025, 18-19:30 CET I “EAN/European Journal of Neurology: Functional Neurological Disorders”, by Ingrid Hoeritzauer, Mark Edwards. To register click here.
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28.10.2025, 17-18 CET I “The Diverse World of Epileptology Based on Patient Voices”, by Birgit Stark, Justyna Paprocka, Pinar Topaloglu. To register click here.
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03.11.2025, 16-17 CET I “New Challenges in Myasthenia Gravis in the Era of Innovative Treatments”, by Elena Cortes Vicente, Lorenzo Maggi. To register click here.
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25.11.2025, 17-18 CET I “How Do I Manage Urinary Incontinence in Neurological Patients?”, by Jalesh Panicker, Alessandra Fanciulli, Ivan Adamec. To register click here.
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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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PARTICIPATION CALL
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EU4Health: Survey on Current and Future Health Priorities
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The European Commission is inviting interested stakeholders to share their views on future priorities, orientations and needs for the future of the EU4Health programme. This includes authorities responsible for health at national, regional or local level in EU countries.
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Engagement with organisations representing patients, civil society, healthcare professionals and healthcare providers, researchers, academia, networks of expertise and business is crucial to inform the upcoming 2026 Annual Work Programme and for shaping the EU’s strategic direction on public health.
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UPCOMING EVENTS
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DBS Select - A Dystonia Europe Webinar
September 10, 2025, 18-19:30 CEST
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This webinar, hosted by Dystonia Europe and held in association with Health House and DBS Select, will feature speakers Dr. Alexandra Boogers (Leuven, Belgium) and Dr. Harith Akram (London, UK), who will introduce the audience to 'DBS Select'- an educational tool created to better inform patients and caregivers on deep brain stimulation.
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The webinar will take place via Zoom. A link will be provided ahead of time.
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Health Literacy in Action: Enhancing Patient Outcomes and Policy Impact
October 16, 2025, 10-12 CEST, EU Parliament Brussels and online
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This session will bring together patient advocates, healthcare professionals, researchers, Members of the European Parliament and policy experts to explore how improving health literacy can transform outcomes for individuals living with brain health and neurological conditions. The meeting will spotlight actionable strategies to empower patients, strengthen healthcare systems, and inform more effective EU-level policy.
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The meeting will be hosted by MEP Tomislav Sokol (Croatia, Group of the European People’s Party).
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Symposium on Cross-border Healthcare in the DE-NL Border Region
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This workshop is organised by the German and Dutch Ministries of Health. It will be held in Groningen, the Netherlands, on 30 October 2025 - a remote participation is also possible. Working language will be in English with translation available in Dutch and German.
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2nd Symposium on the Connection Between Physics and Metabolism in Brain Functions
November 7, Paris (France) and online
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Metabolism and cellular mechanics are closely intertwined. Following the success of the 1st international symposium connecting physics and metabolism in brain functions (Barcelona, July 2024), we are pleased to welcome you in Paris for this 2nd edition. This event will bring together world experts in physics, chemistry, neurobiology, and philosophy with the aim of fostering new collaborations and promoting the so-called “night science”, an interdisciplinary approach by which new ideas arise and questions/ hypotheses are generated. Join us and interact with prestigious speakers who will discuss the physics of cellular trafficking, neurotransmission, sensory systems, and beyond. The symposium will also integrate musical pieces to deepen our quest for understanding the living.
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Find programme and registration here.
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“Atassie ereditarie: aspetti clinici, diagnosi molecolare, approcci terapeutici”
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November 12, 2025, Milano, Italy
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The educational course “Atassie ereditarie: aspetti clinici, diagnosi molecolare, approcci terapeutici” (Hereditary ataxias: clinical aspects, molecular diagnosis, therapeutic approaches) is open to both trainees and senior healthcare professionals in Neurology, Neuroradiology, Paediatric-Neuropsychiatry, Genetics, Surgery, Biology, Psychology. The educational course is accredited for CME credits.
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The course will be held entirely in Italian.
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Find the programme and registration here.
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13th European Conference on Rare Diseases and Orphan Products
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The next ECRD will be held on 2-4 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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Only #SaveTheDate, no registration or programme yet.
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38th Annual Meeting of EACD
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June 3-6, 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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Deadlines for Abstract Submission
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- Mini-Symposia – 5 September 2025
- Other Tracks (Oral Communications, Instructional Courses, Scientific Posters, Technology & Innovation Pitches) – 7 November 2025
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12th Congress of the European Academy of Neurology
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June 27-30, 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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ICAR 2026
November 10-13, 2026, Atlanta, Georgia (USA)
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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 next International Congress for Ataxia Research (ICAR).
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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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