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the new year starts with an important SaveTheDate: Our Spring School on DBS in Dystonia is set up for April 17-19, 2024 and will be held online (preliminary programme below) - registration will be open soon.
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Reminder to all ERN-RND members who haven't registered for the NGS European Quality Assessment Scheme for RND yet: late registration is still open till January 31st.
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In addition you will find also news on the upcoming Rare Disease Day, on webinars and events, on disease knowledge and an update on our supporting partners. Enjoy reading!
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Best wishes,
The ERN-RND Coordination team
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Content
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About Us
Rare Disease Day
Disease Knowledge
ERN-RND Webinars
MLD Eligibility Panel
Calls for Participation
Upcoming Events
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ABOUT US
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ERN-RND Spring School 2024: DBS in Dystonia, April 17-19 (online)
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SaveTheDate: Normally set up as a winter school this year's school will be a spring school and all about deep brain stimulation in dystonia. The registration is not open yet, but you can already have a peek on the Preliminary Programme:
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17 April 2024 I Indications and Diagnosis
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- Isolated Dystonia (inherited, idiopathic)
- Infancy Dystonia
- Combined Dystonia
- Botulinum toxin: opportunities & limitations
- Drug therapy and neurorehabilitation: opportunities & limitations
18 April 2024 I How to do DBS/ Neurosurgery
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- Neurosurgery aspects of DBS in Dystonia (including alternative targets (STN, VOA, VIM))
- Specific aspects of DBS in paediatric Dystonia
- MER and LFP-signals for implantation and programming in Dystonia patients
- Neuroimaging for implantation and programming in Dystonia patients
19 April 2024 I Troubleshooting and Cases
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- Strategies of DBS troubleshooting in Dystonia
- Dystonic crisis/ reactions
- Case presentations
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ERN-RND Supporting Partners
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In order to enable those healthcare providers or individuals with relevant clinical expertise for the diseases covered by ERN-RND who have not (yet) had the opportunity to apply for full or affiliated membership, ERN-RND has invented the supporting partner status.
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This is based on European Commission’s document on terminology issued on 20 June 2018, stating that “it is proposed to use the term Supporting Partner as a generic term to define healthcare providers, medical societies, and any other entity or individual experts which, without having a commercial relation with the ERNs and their Full Members or Affiliated Partners, or with the European Commission, contribute in different ways to the work of the networks. When using the term Supporting Partner it shall be clear that it refers to a collaboration with entities, and individual experts which are neither Full Members nor Affiliated Partners”
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So far, we have welcomed the following individual experts:
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- Christa-Caroline Bergner and Wolfgang Koehler, University Hospital Leipzig, Germany
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- Andreas Hermann and Kevin Peikert, University Medical Center Rostock, Germany
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- Anne Koy, University Hospital of Cologne, Germany
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- Thiboud Lebouvier, Hôpital Salengro – CHU de Lille, France
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- Claudia Ravelli and Diane Dounmar, Paediatric Neurology Department “Hôpital Armand Trousseau APHP”, Paris, France
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- Rebecca Schuele, University Hospital Heidelberg, Germany
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- Sashka Zhelyazkova, UMHAT Alexandrovska, Sofia, Bulgaria
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If you are interested to join individually, or if you are representing a hospital from an EU-country not yet represented in ERN-RND, please get in contact with Carola.Reinhard@med.uni-tuebingen.de.
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RARE DISEASE DAY 2024
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300 million people worldwide are living with a rare disease. Every last day on February is Rare Disease Day, which is about raising awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. As in previous years, in the coming year we will continue to support the Rare Disease Day.
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If you want to help raise awareness, visit the webpage of Rare Disease Day, where you can download banners and profile pictures for your social media accounts, share your own rare disease story or get involved in many other activities.
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DISEASE KNOWLEDGE
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Adrenoleukodystrophy I Care Standards
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Do you have patients who are affected by Adrenoleukodystrphy (ALD)? Then have a look into the international recommendations for the diagnosis and management of patients with ALD that have been endorsed by ERN-RND. The guidelines are available in Bulgarian, Czech, German, English, Polish and Spanish.
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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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18.01.2023, 5 pm CET | ‘Neurological disorders and the European Reference Networks’, with Holm Graessner (ERN-RND), Alexis Arzimanoglou (ERN EpiCARE), Teresinha Evangelista (ERN-NMD) and Alain Verloes (ERN ITHACA). SIGN UP here
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23.01.2024, 3-4 pm CET | ‘Autoimmune chorea’ by Jeroen Kerstens, Antwerp University Hospital, Belgium. SIGN UP here
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06.02.2024, 3-4 pm CET | ‘Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities’ by Sarah Tabrizi, UCL Queen Square Institute of Neurology, London, UK. SIGN UP here
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20.02.2024, 3-4 pm CET | ‘Newborn screening in leukodystrophies’ by Lucia Laugwitz, University Hospital Tübingen, Germany. SIGN UP here
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27.02.2024, 3-4 pm CET | ‘Neuropsychological assessment in primary progressive aphasia – recommendations and pitfalls in clinical practice’ by Lize Jiskoot, Rotterdam University Medical Center, Netherlands. SIGN UP here
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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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25.06.2024, 3-4 pm CEST, ‘Autoimmune parkinsonism’ by Jeroen Kerstens, Antwerp University Hospital, Belgium, 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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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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CALLS FOR PARTICIPATION
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LATE REGISTRATION for the NGS European Quality Assessment Scheme
till January 31st
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If you haven't registered for the NGS European Quality Assessment Scheme for RND yet, please fill in this form, by checking the box for RND. Costs will be covered by ERN-RND.
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UPCOMING EVENTS
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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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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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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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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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