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we are very proud to announce that the European Training Requirement for the ERN-RND postgraduate curriculum for Rare Neurological Diseases has been endorsed by the European Union of Medical Specialists (UEMS) - with us being the first ERN to have achieved this!
More November news: a short movie on Huntington's Disease and Cervical Dystonia - if you missed it at EAN 2024, you can now watch it online. And if you are an expert in Dystonia you might want to have a look at the David Marsden Research Award and apply with your paper - former ERN-RND awardees are Martin Reich (2021) and Katja Lohmann (2013). Apart from that you'll find social media material in different languages for Rare Disease Day 2025 and a podcast on genomic research (in German).
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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 Health Care
National Workshops
Rare Disease Day 2025
Dystonia Research Award
German Podcast on Genomic Research
Upcoming Events
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ABOUT US
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UEMS adopts European Training Requirement for Rare Neurological Diseases
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The Council of the European Union of Medical Specialists, the largest and oldest medical professional organisation, has adopted the European Training Requirement for the Competency Rare Neurological Diseases at its Council Meeting, held in Brussels on October 18-19. ERN-RND has developed this European Training Requirement (ETR) with a focus on the disease groups covered by the network in the years 2023 and 2024. Crucial for the development was the Cross-ERN working group on a postgraduate curriculum, a joint working group of the ERNs ERN-RND, Euro-NMD and EpiCARE.
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ERN-RND is the first European Reference Network that has been able to reach this achievement. The adoption of the ETR is a huge step toward ensuring a high quality of training provided to young healthcare professionals that aim to become experts in rare neurological diseases. As a standard, the ETR shapes the postgraduate training program delivered by ERN-RND.
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This year’s annual meeting took place at the University Medical Center in Ljubljana (Slovenia) from October 10-11. We had 65 ERN-RND members on-site and several more attending online. We started with a symposium on “Translation and Innovation” on Thursday including talks on Framework, Resources and RND Use Cases. Friday was dedicated to ERN-RND internal disease and working group meetings, as well as the board meeting.
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A huge thanks to all contributors that made the meeting a great success!
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DISEASE KNOWLEDGE
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Living with a rare disease is a challenge, not only for the patients themselves, but also for their loved ones who often are also their carers. Our short movie tells the story of two friends - one with cervical dystonia, the other with a twin brother having Huntington's Disease - who meet over the years and talk about their lifes. Thereby they get to talk about the different stages of the diseases as those progress and the challenges they have to face in everyday life. The story is based on patient experience.
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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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05.11.2024, 3-4 pm CET | ‘Diagnostic Approach to Childhood-onset Chorea’ by Juan Darío Ortigoza-Escobar, Hospital Sant Joan de Déu, Barcelona, Spain. SIGN UP here.
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07.11.2024, 4-5 pm CET | ‘Basic Techniques for Muscle Biopsies’ by Tiziana Mongini (Department of Neuroscience of the University of Turin, Italy. SIGN UP here.
14.11.2024, 4-5 pm CET | ‘DBS in Dystonia - the Network Perspective’ by Juho Joutsa, Turku University Hospital. SIGN UP here.
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14.11.2024, 4-5 pm CET | ‘Electron Microscopy for Myopathies’ by Giovanna Cenacchi, S. Orsola-Malpighi Hospital-University University of Bologna. SIGN UP here.
19.11.2024, 3-4 pm CET | ‘Autonomic Dysfunction in Movement Disorders’ by Pietro Guaraldi, Azienda USL di Bologna, IRCCS Institute of Neurological Sciences, Bologna, Italy. SIGN UP here.
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21.11.2024, 4-5 pm CET | ‘Muscle Pathology of Storage Diseases with Focus on Plyglucosan and Lipid Storage Myopathies’ by Anders Oldfors, University of Gothenburg, Sweden, Italy. SIGN UP here (EURO-NMD).
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26.11.2024, 3-4 pm CET | ‘Differential Diagnosis aside from Neuroimaging for non-Leukodystrophy White Matter diseases’ by Nicole Wolf, Amsterdam Leukodystrophy Center, VUMC, Netherlands. SIGN UP here.
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28.11.2024, 4-5 pm CET | ‘Myopathology for Muscular Dystrophies’ by Edoardo Malfatti, Paris-Est AP-HP, France. SIGN UP here.
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05.12.2024, 4-5 pm CET | ‘The Role of Muscle Biopsy in Inflammatory Myopathies’ by Werner Stenzel, Charité – Universitätsmedizin Berlin Department of Neuropathology, Germany. SIGN UP here.
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12.12.2024, 4-5 pm CET | ‘The Role of Biopsy in Congenital Myopathies’ by Norma Romero, Institute of Myology, Paris, France. SIGN UP here.
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19.12.2024, 4-5 pm CET | ‘Novel Approaches and Future Developments in Neuromuscular Pathology’ by Edoardo Malfatti, Paris-Est AP-HP, France. SIGN UP here.
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09.01.2025, 4-5 pm CET | ‘The Role of Biopsy in Autophagic Myopathies’ by Teresinha Evangelista, Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France. SIGN UP here.
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16.01.2025, 4-5 pm CET | ‘The Role of Biopsy in Acquired Myopathies, other than Inflammatory Myopathies’ by Sarah Leonard-Louis, Pitié Salpêtrière Hospital – AP-HP, Paris, France. SIGN UP 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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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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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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Meetings are facilitated by the ERN-RND CPMS helpdesk.
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NATIONAL WORKSHOPS
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Upcoming National Workshop in Brussels
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The next national workshop organised by the EC will be held on November 19, on-site as well as online and will be in Dutch (with translation available in English and French). For registration and agenda click here.
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The next ones in line are France and a combined workshop for Romania and Hungary in February 2025 - information will follow.
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RARE DISEASE DAY 2025
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Material for Rare Disease Day 2025
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Raise awareness for rare diseases on Rare Disease Day 2025 (February 28) - this year in many different languages!
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You can now find a lot of material for your social media accounts, websites or online calls to download on the RDD website: profile frames, virtual backgrounds, social media banners, posters and many more - some of them even editable!
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RESEARCH AWARD FOR DYSTONIA
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Dystonia Europe established the David Marsden Award in 2003, with the aim to stimulate developing knowledge of and interest in dystonia through publications of aetiology, pathogenesis, diagnosis in dystonia or on the psycho social effects.
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Application is open till March 1, 2025. More information on conditions and procedure here.
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PODCAST ON GENOMIC RESEARCH
(in German)
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Der Code des Lebens and Genomhäppchen - Your Podcast on Genomic Research
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Der Code des Lebens takes you on a journey into genomics, exploring how our genes were formed, what makes each of us unique and the potential of new technologies. Every month, a new episode features an expert covering fascinating topics.
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For quick insights, Genomhäppchen is perfect: every two weeks, enjoy short episodes featuring fun facts about genomic research, such as the low genetic diversity of Alpine marmots and the implications of sequencing Ludwig van Beethoven's genome. Please note that both podcasts are in German. The podcasts are produced by GHGA, the German Human Genome-Phenome Archive.
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UPCOMING EVENTS
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ERICA 4th General Assembly & ERN Research Conference
11- 13 December, 2024, in Udine, Italy
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The aim of the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity. ERICA Conference serves as a great opportunity to ‘meet and greet’ the active ERN research community, to present the research projects involving ERNs and to discuss the future of the ERN related research.
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Preliminary Programme here.
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11th Congress of the European Academy of Neurology
June 21-24, Helsinki and online
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The overarching theme for the EAN Congress 2025 in Helsinki explores the multifaceted relationship between neurology and society. The topic particularly challenges our practice since our society impacts the progress, priorities, and relevance of neurology, and, conversely, neurology influences decisions and developments in society. This creates a highly complex and consequential set of interactions that affect all of us - professionals and patients alike.
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Abstract submission opens at November 11. Information on theme-related workshops here.
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37th Annual Meeting of EACD & 4th Triennial Meeting of IAACD
June 24-28, Heidelberg, Germany and Online
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The combined congress of the European Academy of Childhood Disability together with the International Alliance of Academies of Childhood Disability (EACD-IAACD) will be a hybrid event.The online transmission during daytime will also be supported by 24hour-online live sessions on 26th and 27th June enabling for the first time active worldwide participation.
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16th European Paediatric Neurology Society Congress
July 8-12, Munich, Germany
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The 16th EPNS Munich Congress will classify the field into A for acute, B for Brain, Health & Science and C for Chronic. This way an own alphabet of research and care taking is created: dedicated to the children, equipped for the extending variety of neuropaediatric diseases, stimulating and integrating science.
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Deadline for submissions is the 15th January 2025. Find more Information here.
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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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