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We hope that you are all keeping well. This is the last ERN-RND Newsletter of the summer and we are looking forward to reconnecting in September!
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We wish you a safe and pleasant summer.
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ERN-RND
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The ERN-RND Annual Meeting took place online on 30 June and 1 July with more than fifty participants from across Europe. Seventeen sessions were organised including Disease Group (DG) and Working Group (WG) meetings, one session presented by ERN-RND patient representatives and another one by Erwan Berjonneau from EURORDIS on the ‘impact of COVID-19 on RND’. Virtual coffee breaks also took place on both days with different rooms for attendees to meet the new members, chat with patient representatives, ask questions to the CPMS Helpdesk, learn more about the ERN-RND registry and watch introduction videos made by ERN-RND members/patient representatives/affiliated partners/new members (currently applying).
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This was a great opportunity to present recent activities within the network, the latest updates and plan work on ongoing and future projects.
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We are looking forward to continuing our collaborative work, specially as the network will expand soon and include additional expert centres!
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Meet the members - interview with Fran Borovečki
In this month’s edition of “meet the members”, we interviewed Fran Borovečki, neurologist at the University Hospital Center Zagreb, Zagreb, Croatia.
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ERN-RND centres and ePAGs introduction videos
ERN-RND expert centres (full members, affiliated partners and new members-currently applying) as well as ePAG patient representatives created videos where they introduce themselves, their teams and centres which you can now watch.
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Don’t forget to subscribe to the ERN-RND YouTube channel!
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WEBINARS
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Upcoming joint webinars by ERN-RND, EURO-NMD, EAN
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- ERN EURO-NMD summer school webinar series, July 2021, Validation of MRI as a biomarker in clinical trials, Biomarkers, Overview of current state of the art of NMD management
- ERN-RND webinar, 14 September 2021, Genetic forms of Parkinson's disease by Thomas Gasser, University Tübingen, Germany. Sign up here.
- ERN EURO-NMD webinar, 23 September, NGS results and CNV detection in Czech patients with neuromuscular disease by Jana Zídková, University Hospital Brno, Centre of Molecular Biology and Genetics, Czech Republic. Sign up here.
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PATIENT ORGANISATIONS
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Share your reason for action on rare diseases
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There are 30 million people living with a rare disease in Europe. Yet no country can tackle the challenges of rare diseases alone. Their future depends on policy makers taking European action now.
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This cannot wait … PLEASE SHARE YOUR REASON FOR ACTION ON RARE DISEASES!
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Once EURORDIS reaches 3000 reasons, they will be handed over to Ursula von der Leyen, President of the European Commission.
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EURORDIS Black Pearl Awards – call for nominations
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The EURORDIS annual Black Pearl Awards are a great opportunity to provide visibility to rare disease patient advocates, organisations, scientists, companies or anyone else you admire! Acknowledge their extraordinary efforts and nominate that hero in your network today!
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COURSES
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Course title: International Summer School on Rare Disease Registries and FAIRification of Data
Date: 27 September – 1 October 2021
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It is a 5-day online training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration EJP-RD task partners, aimed at the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and patients’ representatives.
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Registration closes on 11 July.
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Course title: Quality assurance, variant interpretation and data management in the NGS diagnostics era
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The course will build on expertise gained by EuroGentest and help in the translation of research tools to diagnostic applications (in line with the IRDiRC objectives). The impact is on the quality and reliability of NGS results, obtained through rare disease research. The training course will consist of plenary presentations, interactive Q&A sessions between speakers and participants, and hands-on training.
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Registration closes on 11 July.
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SOLVE-RD
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Solve-RD series of paper and case reports
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For the first time in Europe hundreds of rare disease experts team up to actively share and jointly analyze existing data from unsolved rare disease patients. The Solve-RD project published a series of papers in the European Journal of Human Genetics describing the new approach and the structures established to warrant best exchange of expertise. Data scientists and genomics experts as well as expert clinicians and geneticists from the European Reference Networks (ERNs) are involved in the project.
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Systematic Literature Review - Treatabolome
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The Treatabolome is a new database under development within Solve-RD addressing unsolved Rare Diseases. This database collects datasets related to gene and variant-specific treatments for rare diseases and makes them available through a free-access web platform. All groups interested in developing a Treatabolome dataset are invited to write a Systematic Literature Review on a disease not yet covered.
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UPCOMING EVENTS
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2021 EHDN Plenary Meeting
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Registration is free of charge.
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MDS Virtual Congress 2021
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Registration is free of charge.
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The German National Conference for Rare Diseases (Nationale Konferenz zu Seltenen Erkrankungen – NAKSE) is organised by ACHSE in collaboration with the Centre for Rare Diseases Tübingen (ZSE Tübingen).
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ERN-RND coordinator Holm Graessner will give a talk on ‘German Reference Networks for Rare Diseases' (Deutsche Referenznetzwerke für Seltene Erkrankungen).
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Registration is free of charge.
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PAST EVENTS
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8 June 2021 | EBC virtual Synthesis Meeting for the Value of Treatment 2
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The European Brain Council (EBC) hosted a virtual Synthesis Meeting for the Value of Treatment 2 case study working groups to present their preliminary findings on 8 June.
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The Value of Treatment for Brain Disorders (VOT) is a health economics and outcomes research project coordinated by the European Brain Council. EBC conceptualized in 2015 the Value of Treatment research framework with a first VOT study to address the increasing all-age burden of brain disorders–both neurological and mental alike.
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The event report and recording of the meeting are now available.
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NEWSLETTER
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Thank you for your support and take care.
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ERN-RND Coordination team
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