News – Page 3 – ERN-RND | European Reference Network on Rare Neurological Diseases

EURORDIS Photo Award

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New CPMS helpdesk

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Editorial: Networks in Movement Disorders. To Move or Not to Move

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Publication: “Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives”

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Available from EJP RD: MOOC Diagnosing Rare Diseases: from the Clinic to Research and back

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New EJP RD training: “Pluripotent stem cells for rare disease research: banking, data, application”

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Launch of the ERN Research Training Workshops funding opportunity

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Review article: “Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies”

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Research article: “Biallelic PI4KA variants cause neurological, intestinal and immunological disease”

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Research article: “Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy”

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New interview available – meet Nicole Wolf from Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands

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EURORDIS Black Pearl Awards – nominations open

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Solve-RD experts team up to share and analyse data from unsolved rare disease patients

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Share your reason for Europe to take action on rare diseases!

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“Quality assurance, variant interpretation and data management in the NGS diagnostics era” training

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International Summer School on Rare Disease Registries and FAIRification of Data

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A first trial of Guanabenz in Vanishing White Matter

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The Value of Treatment for Brain Disorders: Case Studies on Rare Diseases & Mental Disorders present findings at  Synthesis Meeting

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ERN-RND webinar on “MRI pattern recognition in leukodystrophies” – MRI upload by participants

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CPMS tutorial video for ERN-RND clinicians now available

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Research article: “Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3”

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OneNeurology Global Advocacy Workshop 2021

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EJP RD Workshop: Clinical Research with databases: The Basics & Beyond Workshop in clinical epidemiological research for ERNs

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Research article: “A de novo STUB1 variant associated with an early adult‑onset multisystemic ataxia phenotype”

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ERN-RND webinar “MR Biomarkers in Spinocerebellar Ataxias” – recording available

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ERN-RND webinar “Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity” – recording available

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‘Meet the members’ – interview with Sylvia Boesch, University Hospital Innsbruck, Austria

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ERN-RND webinar “Presenting the new CPMS functionalities and the principle of e-consultations”

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EPNS Congress abstract submission and bursary application OPEN

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ERN-RND communication survey

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Find us on Bluesky

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ERN-RND @ern-rnd.bsky.social 2 days

"Look, this is what my rare disease is about" - use our #PatientJourney document on #CervicalDystonia to quickly and easily explain to others your rare condition. Be it your employer, your doctor, your friends or the health insurance. Hear about Monika Benson's story: www.youtube.com/watch?v=1A2W...
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ERN-RND @ern-rnd.bsky.social 3 days

"National Reference Networks" - Holm Graessner shares insights at our Scientific Symposium "European Healthcare for RND Patients", Oct 28, 12:20 CET.

Registration (free of charge): https://f.mtr.cool/mpyqdaaqli
Program: https://f.mtr.cool/qxrjzcwauh
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ERN-RND @ern-rnd.bsky.social 3 days

Free #Webinar on #FrontotemporalDementia and #PPA - which stands for Primary Progressive Aphasia- today at 3 CEST with Alexa Häger on:
"Social and Lifestyle Issues Related to FTD and PPA" - to register, please click here: t1p.de/z2aca

Learn more on PPA with our short interview: tinyurl.com/3nrhcuh3
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ERN-RND @ern-rnd.bsky.social 4 days

💻 U#webinar#webinar on “Social and Lifestyle Issues Related to FTD and PPA”
📅 30th September, 3:00 CEST
🗣️ Alexa Häger, University Hospital Aachen, Germany
Sign https://t1p.de/z2acade/z2aca

Joint with the European Reference Network for Rare Neuromuscular Diseases and
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ERN-RND @ern-rnd.bsky.social 1 week

#NewbornScreeningAwarenessMonth

Learn more about newborn screening with #NewbornScreeningAwarenessMonth #ScientificPill here: erdera.org/article/harm...

...and about newborn screening for #MetachromaticLeukodystrophy in our video interview here: www.youtube.com/watch?v=pd7m...

#MLD #Leukodystrophy
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ERN-RND @ern-rnd.bsky.social 1 week

💻 U#webinar#webinar on “Social and Lifestyle Issues Related to FTD and PPA”
📅 30th September, 3:00 CEST
🗣️ Alexa Häger, University Hospital Aachen, Germany
Sign https://t1p.de/z2acade/z2aca

Joint with the European Reference Network for Rare Neuromuscular Diseases and
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ERN-RND @ern-rnd.bsky.social 1 week

Have you already heard of Lighthouse Concept? Curious to know what it is about? Then join our Symposium on October 28 at 9 CET and listen to Ines Hernando's talk to learn more about it.
Registration (free of charge) and programme:
www.ern-rnd.eu/annual-meeti...