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November 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:
  • "Neuroacanthocytosis syndromes, a rare chorea", DG 'Choreas and HD' by Adrian Danek from the Ludwig Maximilian University, Cognitive Neurology, Munich, Germany, 3 December 2019, 15-16h CET. In order to register please click here.
  • "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.
We would appreciate if you could circulate this information to your colleagues who might be interested in attending.
New affiliated partner
We welcome our second affiliated partner: University Hospital Centre Zagreb, department of Neurology, Zagreb, Croatia. We are looking forward to working together!
ERN-RND expert centres
The ERN-RND is made up of 31 full partners located all across Europe. This month we are introducing our member in Krakow, Poland: Rare Neurologic Diseases Clinic
Oddzial Kliniczny Neurologii Szpital Uniwersytecki w Krakowie (University Hospital Krakow) .
ERN-RND Board Meeting 2019
The ERN-RND Board meeting took place on 12 November 2019 in Frankfurt, Germany. The coordinating team, our ePAG representative from Friedreich's Ataxia Research Alliance Ireland and HCP members attended. It was a productive meeting where the latest updates and activities of the network were discussed in addition to the following points:
  • Introduction of attending affiliated partners (Zagreb, Riga) and update on status of affiliated partners
  • Introduction of our new ePAG Marek Parowicz (Association AHC18+ e.V., representative for Paroxysmal Disorders)
  • Value, service and benefits ERN-RND can provide to ERN members
  • Update on ERN-RND registry
  • CPMS updates and next use cases
  • ERN-RND webinars
ERN-RND members at the Board meeting in Frankfurt, 2019
MoUs and collaboration
Since it started operating, the European Reference Network for Rare Neurological Diseases has signed a Memorandum of Understanding (MoU) with three organisations: International Parkinson and Movement Disorders Society - European Section (MDS), European Academy of Neurology (EAN) and the European Federation of NeuroRehabilitation Societies (EFNR). In addition to this, ERN-RND collaborates with the European Paediatric Neurology Society (EPNS).
These partnerships are very valuable as they support ERN-RND and rare neurological diseases in gaining more visibility in the European neurological community as well as fostering training in the field, among other key objectives. More importantly, these alliances acknowledge one of the guiding principles of the rare disease community: by working altogether we are stronger.
Clinical studies & trials
The clinical studies & trials for each Disease Group ERN-RND covers can be found on each Disease Knowledge (DK) page of the website:


Next CPMS case discussions:

  • DG 'Leukodystrophy' on 26 November 2019, 16-17h CET, patient case with a Krabbe disease to be presented by Joanna Pera Neurology Chair - Jagiellonian University, Krakow, Poland.
  • DG 'Choreas and HD' on 5 December 2019, 17-18h CET, a fascinating chorea case to be presented by Martin Paucar Arce from the Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.


Solve-RD GPAP webinars
Solve-RD will host two webinars on features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) in December 2019. The first webinar focuses on basic analysis and the second webinar focuses on advanced platform features. Everyone who is interested is invited to register and join the webinars.
  • Webinar 1: "RD-Connect GPAP webinar- basic analysis"
Time: Dec 9, 2019; 02:00-03:00 PM Amsterdam, Berlin, Rome, Stockholm, Vienna
Speaker: Steven Laurie (CNAG, Barcelona)
Audience: Solve-RD partners that have no (or very few) previous experience analysing (filtering and prioritising) genomic data through the GPAP. Users will learn how to filter and prioritise variants (SNVs, InDels, and CNVs) using common annotations and on-the-fly gene panels associated to diseases, phenotypes, and pathways (OMIM, ORDO, HPO, PanelApp, Reactome), how to interpret genomic variants according to ACMG guidelines and how to use integrated tools such as Exomiser,, ClinVar, and Varsome.
You can register here.
  • Webinar 2: "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.


ECRD 2020
The 10th European Conference on Rare Diseases & Orphan Products will take place on 15-16 May 2020 in Stockholm, Sweden. ERN
-RND is delighted to be an Associate Partner!
ECRD is "recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies. The event draws together more than 800 participants from over 50 countries around the world."

Please note that submissions for poster abstracts are now open, you will find more information here.
EAN Congress 2020
The 6th Congress of the European Academy of Neurology will take place on 23-26 May 2020 in Paris, France.
"The overarching theme of the congress is “Time for Action: Predict, Prevent, Repair”. The ‘red thread’ of the congress will show and demonstrate in many sessions with a rich spectrum of high-quality information the novel therapeutic interventions, designed to predict, protect and repair neurodegenerative diseases."
You can already register to attend the congress here and submit your abstract here.
DASNE 2019
The annual meeting of the German academy for rare neurological diseases (DASNE) is taking place on 27-29 November 2019 in Eisenach, Germany. The theme of the meeting will be "neuromuscular and mitochondrial diseases. You can register here.

EURO-NMD webinar
The next EURO-NMD webinar “Myotonic Dystrophies” by Pr. Benedikt Schoser, Friedrich-Baur-Institut, Munich, Germany is on 21 November 2019. You will find more information here.


On 13 November, ERN-RND attended the Workshop of the ERN Research Working group organised by the European Commission's DG SANTE. The following European research infrastructures gave presentations on how they can support researchers and ERNs in general in a variety of areas. Please find a short introduction about each of them below.
  • BBMRI-ERIC specializes in biobanking and offers support in quality management, legal, ethical and societal issues as well as online tools and software solutions. In order to advance biomedical research, they bring together all main actors of the biobanking field: researchers, biobankers, industry, and patients.
  • conect4children (c4c) 's objective is to facilitate the development of new drugs and other therapies for the paediatric population. It aims to provide "a sustainable, integrated platform for the efficient and swift delivery of high quality clinical trials in children and young people across all conditions and phases of the drug development process."
  • EATRIS is a European infrastructure for translational medicine which provides researchers with the support needed in order to conduct translational research through clinical, biological and technological expertise available within the infrastructure. It facilitates collaboration among academics, physicians, and developers.
  • ECRIN is the European Clinical Infrastructure Research Network which supports the conduct of multinational clinical trials in Europe facilitating trial preparation and implementation.


Please circulate this newsletter to your colleagues who can also sign up to receive it directly here or email
Thanks for your support.

Kind regards,
ERN-RND Coordinating team
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