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our Scientific Symposium "European Healthcare for RND Patients" (free of charge) on October 28 is fast approaching - don’t miss your chance to join inspiring talks and discussions and register now! Plus, the abstracts are now available, showcasing our speakers and the exciting topics they will talk about - take a look!
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And this is new in October: ERN-RND member Laia Nou-Fontanet shares insights into developing a guideline for NKX1-2-related disorders in our latest video interview. We’ve also updated three of our patient journeys, with translations currently underway (see below). And you can also take part in the EURORDIS Rare Barometer Survey to help shape a better understanding of life with a rare disease.
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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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Join us for our Scientific Symposium on October 28
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Register now for our Scientific Symposium "European Healthcare for RND Patients" on October 28! The event will take place back-to-back with the ERN-RND Annual Meeting (restricted to ERN-RND members) and is open to everyone, free of charge - register now to attend remotely!
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Curious about what’s in store? Take a sneak peek at the abstracts to discover the exciting speakers and topics — the list is constantly being updated.
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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 (Vienna)
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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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To download the agenda, click here. For further information please contact Sophie Ripp.
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Developing a guideline for NKX2-1-related disorders - Laia Nou-Fontanet
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The lack of consensus in standardized guidelines can lead to significant delays in diagnosis, treatment and management. In order to help patients with NKX2-1-related disorders getting equal care and thus more quality of life, Laia Nou-Fontanet and the ERN-RND Chorea and Huntington's Disease Group conducted a survey with the aim to develop a clinical practice guideline.
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Learn more on developing the survey and preliminary results in this video interview.
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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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UPDATED Patient Journeys for Friedreich's Ataxia, Huntington's Disease and Multiple System Atrophy
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Three of our patient journeys have had a revision in the past months - many updated translations are already available on our website with the remaining being constantly updated. Find here the new versions:
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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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Next ERN-RND webinar will be on:
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16.10.2025, 4-5 pm CEST | ‘Management of HyperCKemia’ by Antonio Toscano, University of Messina, Italy. SIGN UP here. (EURO-NMD)
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23.10.2025, 4-5 pm CEST | ‘Pompe Disease – Current Treatment and Future Prospects’ by Marianne Nordstrøm, Frambu Resource Centre for Rare Disorders and Oslo University Hospital, Norway. SIGN UP here. (EURO-NMD)
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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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30.10.2025, 4-5 pm CEST | ‘Nutrition in Myopathies, Including Supplements’ by Benedikt Schoser, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Germany. SIGN UP here. (EURO-NMD)
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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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25.11.2025, 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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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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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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EURORDIS: Rare Barometer Survey
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How do people living with a rare or undiagnosed condition, and their families, cope with daily stress, find support, and manage learning, work, and community life?
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This survey is open to all people living with a rare disease and undiagnosed condition and their close family members from any country in the world. It takes about 20 minutes to complete.
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UPCOMING EVENTS
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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). Our programme manager Carola Reinhard will also be representing ERN-RND in this meeting.
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EFNA: Stronger Connected Workshop
October 17, 2025, 09-13 CEST, Brussels
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On Friday, October 17, at the Fondation Universitaire in Brussels, EFNA will host a Stronger Connected Workshop – ‘Improving Dialogue Between Patients, Caregivers, and Healthcare Professionals’. The workshop will be facilitated by health literacy expert and advocate, Kristine Sorensen, Founder, Global Health Literacy Academy.
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Register your interest here.
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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, 2025, 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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EURORDIS Open Academy School 2026
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May 25-28, 2026, Barcelona
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This school equips participants to understand and influence how early scientific discoveries are translated into therapies for rare diseases. It combines online pre-training modules with an intensive face-to-face session in Barcelona, where 40 advocates and young researchers work directly with 15 leading experts in translational research.
Topics include genetics and diagnostics, registries and real-world data, emerging therapies such as gene therapy, as well as ethical, regulatory, and data governance aspects of rare disease research.
The goal? To give participants the skills and confidence to engage as equal partners in scientific innovation!
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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, 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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Deadlines for Abstract Submission
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- 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, 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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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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