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with a lot of color the ERN-RND Coodination Team participated yesterday in the Rare Disease Day 2023. 300 million people worldwide are living with a rare disease. ERN-RND brings together 64 of Europe's leading expert centers and 4 affiliated partners in 24 European countries and includes very active patient organizations. Our goal is to raise awareness of rare neurological diseases and improve access, care and treatment for patients throughout Europe.
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An important recognition of this effort is the award of our coodinator Holm Graessner with the EURORDIS Leadership Award for his dedicated work in the rare disease community.
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In addition to this news, we provide information on other ERN-RND-related topics in the newsletter.
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The ERN-RND Coordination team
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Content
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First Medication to treat Friedreich’s Ataxia
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ERN-RND Disease Knowledge
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About us
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Holm Graessner, coordinator of ERN-RND, obtains the EURORDIS European Rare Disease Leadership Award 2023
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Effective collaboration in the field of rare diseases needs to be patient-driven. So it always starts with listening to and involving patients and patient representatives. Furthermore, effective collaboration needs shared goals, appropriate resources, leadership, good communication and an engaged team. In the (academic) rare disease field, collaboration very often implies self-exploitation, at least to a certain extent. So I tend to apply the “nice people rule”. Collaborate with nice people in order to keep motivation and joy levels high.
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This is how Holm Graessner describes the motivation and the will to advocate for patients with rare diseases and to improve their situation. On February 21st, Holm Graessner received the EURORDIS Leadership Award 2023 in Brussels.
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Introducing MLD treatment eligibility panels in ERN-RND
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(in co-operation with MLDi)
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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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Rare Disease Day 2023
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The ERN-RND Coordination Team has contributed to the Rare Disease Day 2023.
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First Medication to treat Friedreich’s Ataxia
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First Medication to Treat Friedreich’s Ataxia Approved on Rare Disease Day!
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Yesterday marks the approval of the first medication to treat Friedreich’s Ataxia (FA), a milestone for the FA community and the Friedreich’s Ataxia Research Alliance (FARA). Reata Pharmaceuticals announced that the U.S. Food & Drug Administration has approved SKYCLARYS™ (omaveloxolone) for the treatment of people who have FA and are 16 years of age or older. This announcement comes on Rare Disease Day, which is recognized as a day to raise awareness of the unmet medical needs for the hundreds of millions of people living with rare diseases worldwide.
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Surveys
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Survey on mitochondrial diseases management in Europe
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Recently, several European Reference Networks for rare or low prevalence diseases (ERNs) decided to join forces. They created a joint work group dedicated to mitochondrial diseases, built by experts on Rare Neurological Diseases (ERN RND), Neuromuscular Diseases (ERN EURO-NMD), Rare and Complex Epilepsies (EpiCARE), Eye Diseases (ERN-EYE), Hereditary Metabolic Disorders (MetabERN), and by patient representatives.
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Today, these experts call on you and your experience from everyday clinics, to get a clear picture on how mitochondrial diseases are managed throughout Europe. Please do help us get a maximum of input from clinicians, by answering the survey until March 15th and do not hesitate to share the survey with your colleagues.
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Answering the survey will take no more than 10 minutes. Your contribution is precious as the action of the experts towards harmonisation of mitochondrial diseases management in Europe will be based on your answers.
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Urgent call for participation!
Survey: inventory of current practice of HSCT for metachromatic leukodystrophy in Europe and neighboring countries.
Metachromatic leukodystrophy (MLD) is a rare neurometabolic disorder for which treatment with hematopoietic stem cell transplantation (HSCT) is sometimes beneficial. This directory is a joint effort of the MLD Initiative and ERN-RND. As a first step towards harmonization and improvement of (cross-border) MLD treatment, we would like to conduct a survey on the current practice of HSCT for MLD in different countries of the European Union and in neighboring countries.
The survey will take about 15 minutes to complete. It is possible to save a draft and continue later. You may also receive an invitation through other channels. Please note that you only need to complete the survey once. May we ask you to complete the survey before March 14th?
Who should participate?
Have you or your center diagnosed/cared for an MLD patient in the last 10 years? If yes, is HSCT performed at your center or in your country?
o If yes: Please complete the questionnaire.
o If not: to which center or country do you refer MLD patients? Please email us (d.h.schoenmakers@amsterdamumc.nl) or enter the answer to this question in one of the text boxes in the survey.
Why should you participate?
Your input will help provide insights into the differences in stem cell transplantation for MLD across countries. This is important to optimize the care of patients with MLD in Europe.
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ERN-RND Disease Knowledge
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On our website, you can find information about the six Disease Groups covered in ERN-RND:
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ERN-RND Patient Journeys
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Patient Journeys are a useful educational tool for those with the rare disease. In addition, it is an ideal tool for doctors who are not experts in the area, accident and emergency, general practitioners and other health care professionals. (Mary Kearney, patient advocate at the ERN)
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Many patients have to travel a long journey until they receive a diagnosis of a rare disease. Patient Journeys demonstrate this process. They are info-graphical overviews that visualize patients’ needs in the care of their rare disease. Because Patient Journeys are designed from the patient’s perspective, they allow clinicians to effectively address the needs of rare disease patients.
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We are pleased to be able to offer our Patient Journeys in different languages. Some Patient Journeys have already been translated, others are currently being translated.
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If you would like to translate a patient journey in your own language, please contact us and we will send you the documents to do so.
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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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07.03.2023, 3-4 pm CET| ‘Towards precision medicine in NBIA’ by Manju Kurian, GOS Institute of Child Health, University College London, UK. SIGN UP here
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14.03.2023, 3-4 pm CET| ‘FTD- in whom, when and how genetic testing should be applied’ by Laura Donker Kaat, Erasmus Medical Center Rotterdam, Netherlands. SIGN UP here
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09.05.2023, 3-4 pm CET| ‘Non-pharmacological approaches to treatment in svPPA’ by Ana Sofia Costa, RWTH-University Hospital Aachen, Germany. SIGN UP here
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23.05.2023, 3-4 pm CET| ‘Frontotemporal dementia vs. primary psychiatric disorders’ by Tim van Langenhove, University Hospital Ghent, Belgium. SIGN UP here
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20.06.2023, 3-4 pm CET| ‘Haematopoietic Stem Cell Transplantion in Leukodystrophies’ by Jörn-Sven Kühl, University Hospital Leipzig, Germany. SIGN UP here
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ERN-RND Winter School
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4th ERN-RND Winter School ‘Neuroimaging’
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23. - 25. March 2023, Online
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The 4th ERN-RND Winter school in 2023 is dedicated to neuroimaging issues in patients with symptoms of a rare neurodegenerative /genetic disorders.
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Due to the variety of clinical symptoms that occur in rare neurodegenerative diseases and difficulties in the correct diagnosis, there is a need to learn their characteristic imaging findings based on the appropriate imaging technique. The goal of this winter school is to learn the typical neuroimaging signs of selected rare neurodegenerative disorders and to elaborate with the participants a practical approach to apply neuroimaging in clinical practice. The winter school in 2023 will address basic technological and methodological aspects of neuroimaging techniques and their application to the diagnostic work up and management of rare neurodegenerative diseases’ patients. Common misconceptions, pitfalls and the prognostic values of imaging features will also be tackled.
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When registering you can also opt for submitting a case, which can be discussed with the experts during the event.
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EURO-NMD Webinars
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Next webinar will be held on 9 March 2023
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BASIC WEBINARS SERIES THEME: Muscle hyperexcitability and cramps PRESENTER: Dr. Federica Montagnese (Friedrich Baur Institute, Ludwig Maximilians University, Munchen, Germany) TIMESLOT: 9th March 2023 at 16:00 CET BIOSKETCH: Dr. med. Federica Montagnese qualified as MD and Neurologist at the University of Messina, Italy. Since 2017, she works as post-doctoral fellow at the Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilian University Munich, Germany. Here, she obtained the certification as neurophysiologist and works in the neuromuscular outpatient clinic. Her main research interests focus on the clinical and myopathological aspects of metabolic myopathies, myositis, myotonic syndromes and muscular dystrophies. She contributes to the maintenance of the national registries for myotonic dystrophies and facio-scapulo-humeral muscular dystrophy. She is part of the management group of the EAN Subspecialty Panel “Muscle disorders”.
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EPNS Training
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EPNS Training Courses: Riga, Latvia 2023
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Registration is now open and limited places available for 2 in-person training courses in paediatric neurology aimed at trainees and qualified paediatric neurologists who want to refresh their knowledge on:
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Neurometabolics: 24 and 25 April 2023: Moderators: Professor Barbara Plecko and Professor Michel Willemsen
Epilepsy: 26 and 27 April 2023: Moderators: Professor Lieven Lagae and
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EJP RD-ERN Workshop
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EJP RD: ERN Workshop: Genetics and Precision Medicine in Rare Diseases
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Aim: Learning from monogenic diabetes as a model of precision medicine by genetic diagnosis and elaborating a proposal of a study design to apply precision medicine in other rare genetic diseases.
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Registration deadline: 23 March
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Funding
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Dystonia Europe is asking for applications for the David Marsden Award 2023. The Award is of € 10 000 for a researcher under 45, and will be presented at the EAN 2023 in Budapest. Applications must be submitted by 31 March.
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Upcoming EVENTS
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Samuel Belzberg 6th International Dystonia Symposium
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Hear from expert faculty as they discuss and debate cutting edge dystonia research. With over sixty speakers from sixteen countries, the Samuel Belzberg International Dystonia Symposium is perfect for researchers and clinicians at any stage of their career.
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The symposium is designed to provide a comprehensive overview of important scientific advances in the field and stimulate discussion within and across disciplines.
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Submission deadline for abstracts: 6th March 2023
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Congress of the Euorpean Paediatric Neurology Society
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We look forward to welcoming you to the magnificent city of Prague where history meets today. You will have the opportunity to learn about the latest developments in the rapidly evolving field of child neurology and network with colleagues and industry partners all focused on delivering the best possible care for children with neurological disorders.
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35th Annual Meeting European Acacemy of Childhood Disability
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24 – 27 May 2023 in Ljubljana
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The motto of this EACD annual meeting is “Smarter Goals for Better Future”, with the intent to emphasize the importance of goal setting in all processes of care in the rehabilitation of children and youth. The program in Ljubljana will be divided into five main thematic modules:
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- The importance of timely intervention
- Advances in the management of orphan diseases
- Management of pain in children with developmental disorders and chronic pain syndromes in otherwise normally developing children
- Goal setting: active role of the child and parent in (re)habilitation process
- Advances in technological support of the rehabilitation process
Preliminary program online!
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ERN-RND participates in the pre-conference programme "Pediatric dystonia".
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PARTNER ORGANISATIONS
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Solve-RD Final Meeting 2023 – Registration now open!
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We are happy to invite you all to the Solve-RD Final Meeting 2023!
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The meeting will take place from Monday to Wednesday 24-26 April 2023 at the Orea Hotel Pyramida in Prague, CZ and online.
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Scientific Meeting – open to all Solve-RD partners & RD researchers
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24-25 April 2023 | Fully dedicated to the scientific results Solve-RD achieved and based on submitted abstracts. Solve-RD beneficiaries, associated partners and collaborators but also other interested Rare Disease researchers are invited to attend. Apart from the welcome reception, poster session and meeting dinner the event can be followed online.
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The impact of Solve-RD on research & care of RD patients – public symposium
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26 April 2023 | Public symposium “The impact of Solve-RD on research & care of RD patients”: two keynote lectures given by Ines Thiele from the University of Galway and Timothy Yu from Harvard Medical School will be followed by reports on the future of Solve-RD and the patients perspective. Major achievements of Solve-RD will be presented and a round table will discuss the future of rare disease diagnostics in Europe. This event is open to the public and can be attended by all interested parties via a Zoom webinar. All presentations will be given on-site in Prague. Register here.
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Registration is open: EAN 2023
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Overarching Theme of the 9th Annual Congress of the EAN: The amount of data available in neurology, neuroscience, neurobiology and related disciplines is rising exponentially and our ability to analyse and utilise those data is becoming ever more sophisticated. These issues will be the subject of a number of specially arranged sessions under our EAN 2023 overarching theme 'Neurology Beyond Big Data'. Concepts, recent advances, opportunities, and challenges will be discussed in workshops and symposia touching on telemedicine, artificial intelligence, and precision health.
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The monthly podcast explores the unique experiences, challenges and successes of people in the rare disease community, and how we can create a better world for people living with a rare disease.
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Each episode focuses on a specific issue or policy area related to the work and outreach of EURORDIS.
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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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