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our Spring School on "DBS in Dystonia" is coming up on April 17-19 - have you registered yet? Find the programme below and register now!
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And looking back on this year's Rare Disease Day: We made a video to help raise awareness for rare diseases, which you can find on our social media channels: X, facebook, LinkedIn.
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And as always you will find news on upcoming webinars, events and participation calls. Enjoy reading!
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Best wishes,
The ERN-RND Coordination team
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Content
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Obituary Gregor K. Wenning
ERN-RND Spring School 2024
Disease Knowledge
Rare Disease Day
ERN-RND Webinars
Participation Call
MLD Eligibility Panel
Upcoming Events
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Obituary for ERN-RND member Gregor K. Wenning (1964-2024)
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We are sad that Gregor K. Wenning, one of our members in ERN-RND and reknown MSA expert, has passed away unexpectedly on February 11, 2024. From 2006 till his resent passing he had been the head of the Department of Clinical Neurobiology at the University Hospital of Neurology in Innsbruck, which he joined at 1995. Gregor Wenning has received numerous international awards for his MSA research, including the Oppenheimer MSA Award and the JP Schouppe Award for Lifetime Achievements in MSA. Additionally he has been engaged in many (international) MSA research organisations as president or board member.
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ERN-RND SPRING SCHOOL 2024 - Registration open
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Our 5th Winter School will be a Spring School this year and will focus on Deep Brain Stimulation in Dystonia. It will be held online from April 17 to 19, 2024.
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17 April 2024 I Indications and Diagnosis
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18 April 2024 I How to do DBS / Neurosurgery
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19 April 2024 I Troubleshooting and Cases
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DISEASE KNOWLEDGE
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NEW Algorithm to predict diagnostic success rate of whole-exome sequence in individuals with dystonia
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This document was endorsed by the Disease Group for Dystonia, Paroxysmal Disorders and NBIA of ERN-RND and is recommended for use. Find the document here.
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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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12.03.2024, 3-4 pm CET | ‘The Spectrum of Genetic Synucleinopathies’ by Leonidas Stefanis, University of Athens Medical School, Athens, Greece. SIGN UP here
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14.03.2024, 4 pm CET | ‘New Suggestions for Management and Treatment of Patients with Pompe Disease’ by Antonio Toscano, University of Messina, Italy. SIGN UP here
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04.06.2024, 3-4 pm CET| ‘Genetic Testing in Ataxias and HSP - in whom, when and how’ by Rebecca Schüle & Ludger Schöls, University Hospital Heidelberg & University Hospital Tübingen, Germany. SIGN UP here
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25.06.2024, 3-4 pm CET| ‘Autoimmune Parkinsonism’ by Jeroen Kerstens, Antwerp University Hospital, Belgium. SIGN UP here
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24.09.2024, 3-4 pm CET| ‘Clinical Neurophysiology in Dystonia’ by Anke Snijders, Radboud University Medical Center, Netherlands. SIGN UP here
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22.10.2024, 3-4 pm CET| ‘Neurogeriatric Aspects and Neurological Aspects in Palliative Care of MSA, PSP and Advanced PD’ by Martin Klietz, Hannover Medical School, Germany. SIGN UP here
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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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ERICA Webinars for clinical studies
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To stimulate the development of inter-ERN clinical trials on diseases that overarch different ERNs, ERICA webinars are sheduled to inform ERNs about specific aspects of clinical trial research. Check the available webinars here
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New WG “Patient-reported Experience & Outcome Measures” in Ataxias
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Ataxia Global Initiative is launching a new Working Group “Patient-reported experience & outcome measures” in ataxias. This WG aims to promote the role of patient report in the assessment and trials of ataxia. The prioritary aim is to define a graded catalogue of patient-reported outcome measures (PROM) focused on collecting patient perspectives on aspects of health status. Secondarily, this WG may also extend to patient reported experience measures (PREM) of health care.
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These instruments may serve as a standard for future clinical trials and sharing of observations at a global level. Starting from review of existing evidence and input on theoretical frameworks, the work of this WG will be directed by results obtained in each step.
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Initiators: Laura Bannach Jardim (Porto Alegre, Brazil), Tanja Schmitz-Hübsch (Berlin, Germany), Giulia Coarelli (Paris, France), and Jonas Saute (Porto Alegre, Brazil).
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Interested in participating in this working group?
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Experts in this area, incl. ICF (International Classification of Disability and Function) and concept elicitation, are welcome to join!
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To join the WG, please follow this link or contact the AGI office (Non-AGI-Members will be asked to apply for free AGI membership).
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MLD 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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UPCOMING EVENTS
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12th European Conference on Rare Diseases and Orphan Products (ECRD) 2024 15-16 May 2024, both online and in Brussels
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The registration for Europe's largest, patient-led, rare disease policy-shaping event is now open! This year's conference will focus on identifying the most critical priorities and areas of improvement. By bringing together stakeholders from across Europe, it aim to build a multi-stakeholder consensus on a comprehensive approach to rare disease policy that can provide a footprint for the next EU legislative cycle.
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European Human Genetics Conference 2024
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1-4 June 2024, both online and in Berlin
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If you are in Berlin, stop by the ERN booth staffed by ERN GENTURIS, ERN-Ithaca, ERN-EYE and EURO-NMD!
Registration is open.
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36th European Academy of Childhood Disability (EACD)
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29th May - 1 June 2024in Bruges, Belgium
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Under the meeting theme ‘Composing a new symphony’, we challenge the increasing innovative unaffordability and policy difficulties and will work towards new collaborations by embracing positive thinking, taking on responsibilities, and reshaping our plans to meet the needs of a changing world. And we invite you all to join us on this journey to contribute to a brighter future for ourselves and for generations to come!
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10th Congress of the European Academy of Neurology
29 June - 2 July, in Helsinki and online
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The overarching theme is "Neuromodulation: Advances and Opportunities in Neurological Diseases". The current state and future directions of neuromodulation will be addressed with relevant questions such as which techniques are avaialble as diagnostic tools or therapeutic intervention; how to precisely target specific cortical regions, deep brain structures and head nerves for therapeutic purposes; and how to advance neuromodulation into new areas of neurology such as chronic minimally conscious state or limb prosthesis.
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1st Symposium "Connection between Physics & Metabolism in Brain Function"
5 July, in Barcelona and online
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For more information on the Symposium watch the video, for programme and registration click here.
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International Congress of Parkinson's Disease and Movement Disorders 2024
September 27 - October 1, Philadelphia, PA, USA
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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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