September 2023
Dear readers,

We hope you enjoyed the Summer break. We are back to work, looking forward to the ERN-RND annual meeting on September 19th and 20th. Everybody is invited to register for online-participation to the public part. Please see below.

    Best wishes,
    The ERN-RND Coordination team


    ERN-RND annual meeting
    MLD eligibility panel
    AGI Webinars
    XXVI World Congress of Neurology
    EESC Conference on Rare Diseases
    EACD Conference 2024 – Abstract submission open

    ERN-RND Annual Meeting

    Our ERN-RND annual meeting is coming soon. The non-internal part on 19 September is open for online participation to anyone interested!
    Program - 19 September

    11:00 CET Welcome and overview of ERN-RND.
    Holm Graessner (University Hospital Tübingen)

    11:30 CET The VALOR-Trial – a breakthrough for SOD related ALS.
    Albert Ludolph (University Hospital Ulm)

    12:00 CET Patient journeys.
    Monika Benson and John Gerbild (ERN-RND patient representatives)

    14:30 CET Genetic diagnosis and technological advancements.
    Alex Hoischen (Radboud University Medical Centre, Nijmegen)

    15:00 CET External Quality Assessment for Next-Generation Sequencing Testing in RND.
    Ales Maver (University Medical Centre Ljubljana)

    15:30 CET Genetic strategies of the future, using the example of the Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
    Stephan Zuchner (Miller School of Medicine, Miami)

    17:00 CET DBS in dystonia.
    Sylvia Boesch (Medical University Innsbruck)

    17:30 CET Current practices regarding HSCT in metachromatic leukodystrophy in Europe and treatment eligibility panels.
    Nicole Wolf (Amsterdam UMC)

    17:50 CET Ups and downs of therapy development in HD.
    Bernhard Landwehrmeyer (University Hospital Ulm)

    MLD Treatment Eligibility Panels in ERN-RND

    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.

    We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.

    You would like to discuss one of your patients with the panel?
    Please contact us.

    ERN-RND Webinars

    Upcoming joint educational webinars
    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.
    26 September 2023, 3-4 pm CET Neuropsychological assessment in primary progressive aphasia – recommendations and pitfalls in clinical practice by Lize Jiskoot, Erasmus Medical Center Rotterdam, Netherlands.

    10 October 2023, 3-4 pm CET ‘Advanced therapies and clinical trials in Leukodystrophies‘ by Caroline Sevin (Reference Centre for Leukodystrophies, University Hospital Bicetre, Paris, France) & Nicole Wolf (Amsterdam Leukodystrophy Center, VUMC- Amsterdam University Medical Centers, Netherlands)

    17 October 2023, 3-4 pm CET ‘Neuro-ophthalmological presentations of rare neurometabolic diseases’ by Tatiana Brémovà-Ertl (Center for Rare Diseases, University Hospital Bern, Switzerland)

    24 October 2023, 3-4 pm CET 'Newborn screening in leukodystrophies' by Lucia Laugwitz (University Hospital Tübingen, Germany)

    9 November 2023, 4-5 pm CET ‘Pathology of Peripheral Nerves‘ by Joachim Weis (University Hospital RWTH Aachen, Germany)

    14 November 2023, 3-4 pm CET 'Diagnostic workup for genito-urinary dysfunctions in atypical parkinsonism' by Pietro Guaraldi (Azienda USL di Bologna, IRCCS Institute of Neurological Sciences, Bologna, Italy)

    Webinars by Ataxia Global Initiative

    Interested in ataxia research? Register now for AGI YII webinars:

    iScience: AGI YII Webinar Series on Hot Topics
    Explore Your Future in Ataxia Research

    Quantative Gait and Balance Outcomes for Ataxia Trials
    Speakers: Fay Horak (Oregon Health and Science University, USA); Winfried Ilg (University of Tuebingen, Germany) - WG4 Digital-motor biomarkers
    Tuesday, 19 September 2023, 5-6pm CEST

    Future Projects for Biomarker Group
    Speakers: Filippo Santorelli (Pisa, Italy), David Mengel (Tübingen, Germany), Puneet Opal (Chicago, USA) - WG2 Molecular biomarkers & biosampling
    Tuesday, 24 October 2023, 5-6 pm CEST

    XXVI World Congress of Neurology

    15-19 October 2023
    Registration for the XXVI world congress of Neurology in Montreal is open until 26 September.

    EESC - Conference on Rare Diseases

    The European Economic and Social Committee (EESC) under the auspices of the Spanish Presidency of the EU Council and in cooperation with the authorities of the Basque Country is organising a major conference on Rare diseases and European Reference Networks. It will take place on 10-11 October 2023 in the Euskalduna Conference Centre in Bilbao, Spain.

    Registration deadline is 22nd September.

    EACD Conference 2024

    Abstract Submission open
    The next conference of the European Academy for Childhood Disability (EACD) will be held in Bruges from 29 May to 01 June 2024 and is now open for abstract submissions!


    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
    Thank you for your support and take care.

    Kind regards,
    ERN-RND Coordination team
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