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December 2019


ERN-RND EAN EURO-NMD logos together2
Joint webinars by ERN-RND, EURO-NMD, EAN
The next ERN-RND webinars, in collaboration with the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) and the European Academy of Neurology (EAN) are the following:
  • "Non-progressive congenital ataxia", DG 'Ataxia and HSPs' by Alfons Macaya from University Hospital Vall d'Hebron, Paediatric Neurology, Barcelona, Spain, 17 December 2019, 15-16h CET. In order to register please click here.
  • The inherited ataxias, DG ‘Ataxia and HSPs” by Paola Giunti from UCL – Queen Square Institute of Neurology, London, UK, 14 January 2020, 15-16h CET. In order to register please click here.
  • “Immune-mediated choreas”, DG ‘Chorea & Huntington’s Disease’ by Jan Lewerenz from University Hospital Ulm, Germany, 21 January 2020, 15-16h CET. In order to register please click here.
  • “Introduction to Leukodystrophies”, DG ‘Leukodystrophies’ by Nicole Wolf from Amsterdam University Medical Center, the Netherlands, 28 January 2020, 15-16h CET. In order to register please click here.
We would appreciate if you could circulate this information to your colleagues who might be interested in attending. To see the full webinar schedule for the beginning of 2020, click here.
Recordings and slides of past webinars
Did you miss our two first webinars or do you want to view them again? The recordings and slides of our past webinars on “clinical approach to cerebellar ataxia” and “neuroacanthocytosis syndromes, a rare chorea” are available! Please click here to view them.
New affiliated partners
We welcome three more affiliated partners: Medical University Innsbruck (Center for Rare Movement Disorders), Austria, Medical University of Vienna (Center for Pediatric Rare Neurological Disorders), Austria and Tartu University Hospital, Estonia. We are looking forward to working together!
ERN-RND brochure for members
The ERN-RND brochure for members is now available here. It is a document with practical information for members of the network including key contact people, structure of ERN-RND, overview of Work Packages and Disease Groups, ERN-RND ePAG representatives and information on the Clinical Patient Management System (CPMS). We recommend all members to read it. Please note that it might need to be updated from time to time so please check the latest version on the ERN-RND homepage.


Enlargement of the ERNs
The call to join the 24 European Reference Networks closed on 30 November and the European Commission reported that 841 applications from healthcare units were received from Members States and Norway. ERN-RND received 39 applications!
You can read more about the enlargement of the ERNs here.
ERN Newsletter
The ERN Newsletter for December is now available, you can read it here. It includes interviews with key players, news from the ERN community and good practices and inspirational stories.


Solve-RD GPAP webinar
Solve-RD 's next webinar on features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) will focus on advanced platform features. Everyone who is interested is invited to register and join the webinar.

    • "RD-Connect GPAP webinar- advanced platform features"
    Time: Dec 16, 2019; 02:00-03:00 PM Amsterdam, Berlin, Rome, Stockholm, Vienna
    Speaker: Leslie Matalonga (CNAG, Barcelona)
    Audience: Solve-RD partners that already have previous experience analysing (filtering and prioritising) genomic data through the GPAP and/or have attended the workshop on basic analysis. Users will learn how to use advanced features integrated in the system such as: i) Matchmaker exchange, ii) search for specific gene/variants across all samples, iii) TAG and share variants / queries, iv) create specific cohorts based on phenotypic data and v) post analysis management (analysis status and solved cases).
    You can register here.
    Solve-RD Annual Meeting
    Solve-RD is pleased to announce that its annual meeting will take place on 5-6 March 2020 in Barcelona, Spain. Please register here.
    Registration deadline: 3 February 2020.
    For more information about the meeting, please read the news item on the Solve-RD website here.

    EJP RD

    Latest updates
    The European Joint Programme for Rare Diseases (EJP RD) would like to share the following updates, please click on the hyperlinked text below for more information:
    You can also read more about the above in the latest EJP RD newsletter special edition here.


    Euro-ataxia, which represents people with progressive ataxia in Europe, has published a patient charter outlining the mission for patient involvement in ataxia clinical trials. Read the press release explaining why the patient charter is important and how it can be implemented here.


    EJP RD training
    Course name: International Course "Training on strategies to foster solutions of undiagnosed rare disease cases"
    Date: 27 – 29 April 2020
    Location: Istituto Superiore di Sanità, Rome, Italy

    This course is part of a series of training activities proposed by the EJP RD. Find out more on the EJP RD website.


    SCA Global Conference 2020
    We are pleased to announce that the second SCA Global Conference will take place on 6-7 April 2020 in Bonn, Germany.
    The registration deadline is 8 March 2020, register here now!
    The deadline for poster abstract submission is 16 February 2020.
    RE(ACT) Congress IRDiRC Conference 2020 sp
    RE(ACT) Congress & IRDiRC Conference
    Join a major event on rare diseases in 2020: The REACTCongress and IRDiRC Conference.
    When? March 11-14 2020.
    Where? Berlin, Germany.
    Early bird registration has been extended until Friday 20 December 2019 !
    Young and professional scientists, patients & patient representatives, as well as other rare diseases stakeholders are welcome to discuss the latest cutting-edge research, innovation, and policy with the leaders in the rare disease fields. You can consult the list of speakers here.
    The scientific programme has been inspired by IRDiRC principles and achievements and by the IRDiRC activities foreseen in 2020 and it encompasses topics like diagnosis & artificial intelligence, molecular etiology, innovative clinical trials, patient engagement and drugs for all.

    The full programme is available here.
    For abstract information and submission, please click here.

    The exceptional joint edition is being organized by the Blackswan Foundation and IRDiRC in collaboration with the European Joint Program on Rare Diseases (EJP RD) and in partnership with EURORDIS and Rare Diseases International (RDI, global alliance of people living with a rare disease).
    To stay up to date, follow RE(ACT) and IRDiRC on twitter at @react_community and @irdirc .

    ECRD 2020
    The 10th European Conference on Rare Diseases & Orphan Products will take place on 15-16 May 2020 in Stockholm, Sweden.
    Submissions for poster abstracts are open! Please submit your abstract before 11 February 2020.
    EAN Congress 2020
    The 6th Congress of the European Academy of Neurology will take place on 23-26 May 2020 in Paris, France.
    The abstract submission deadline is 8 January 2020.
    You can register to attend the congress here and submit your abstract here.
    EURO-NMD webinar
    The EURO-NMD webinar “Mitochondrial donation” by Robert McFarland, Welcome Center Mitochondrial Research, Newcastle University, UK has been rescheduled to 20 February 2020. You will find more information here.


    New EAN Scientific Panel on Rare Neurological Diseases – call for applications
    The EAN taskforce on Rare Neurological Diseases recently became a permanent part of the EAN structure. The Scientific Committee has opened a call for applications – if you are interested in representing their Scientific Panel in the new Coordinating Panel on Rare Neurological Disease, please submit a completed application form , CV and a short letter of intent to until 16 December, 2019.
    You can read more about the EAN Scientific Panel on Rare Neurological Diseases here.


    Please circulate this newsletter to your colleagues who can also sign up to receive it directly here or email
    We wish you wonderful winter holidays and we look forward to seeing you in 2020!
    Thanks for your support.

    Kind regards,
    ERN-RND Coordinating team
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