EURORDIS Guide on patient involvement
EURORDIS – Rare Diseases Europe developed a short guide to explain in simple and practical terms how to involve patients …read more »
ERN support Ukraine – Rare Diseases Hub Ukraine
Rare Diseases Doctors The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian …read more »
Publication: “Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy”
Publication from the European Metachromatic Leukodystrophy initiative (MLDi)
Publication: “Therapy Trial Design in Vanishing White Matter – An Expert Consortium Opinion”
United Nations adopts Resolution on persons with rare diseases
33 new ERN-RND members!
EURORDIS Photo Award
New CPMS helpdesk
Editorial: Networks in Movement Disorders. To Move or Not to Move
Publication: “Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives”
Available from EJP RD: MOOC Diagnosing Rare Diseases: from the Clinic to Research and back
New EJP RD training: “Pluripotent stem cells for rare disease research: banking, data, application”
Launch of the ERN Research Training Workshops funding opportunity
Review article: “Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies”
Research article: “Biallelic PI4KA variants cause neurological, intestinal and immunological disease”
Research article: “Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy”
New interview available – meet Nicole Wolf from Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands
EURORDIS Black Pearl Awards – nominations open
Solve-RD experts team up to share and analyse data from unsolved rare disease patients
Share your reason for Europe to take action on rare diseases!
“Quality assurance, variant interpretation and data management in the NGS diagnostics era” training
International Summer School on Rare Disease Registries and FAIRification of Data
A first trial of Guanabenz in Vanishing White Matter
The Value of Treatment for Brain Disorders: Case Studies on Rare Diseases & Mental Disorders present findings at Synthesis Meeting
ERN-RND webinar on “MRI pattern recognition in leukodystrophies” – MRI upload by participants
CPMS tutorial video for ERN-RND clinicians now available
Research article: “Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3”
OneNeurology Global Advocacy Workshop 2021
EJP RD Workshop: Clinical Research with databases: The Basics & Beyond Workshop in clinical epidemiological research for ERNs
Research article: “A de novo STUB1 variant associated with an early adult‑onset multisystemic ataxia phenotype”
ERN-RND webinar “MR Biomarkers in Spinocerebellar Ataxias” – recording available
ERN-RND webinar “Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity” – recording available
‘Meet the members’ – interview with Sylvia Boesch, University Hospital Innsbruck, Austria
ERN-RND webinar “Presenting the new CPMS functionalities and the principle of e-consultations”
EPNS Congress abstract submission and bursary application OPEN
ERN-RND communication survey
Research article: “Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases”
Article: “European Reference Networks: challenges and opportunities”
Survey: educational needs in rare neurological diseases in Europe
FUNDING – EJP RD / ERN Research Mobility Fellowship call open
EJP RD – ERN Research Mobility Fellowship funding opportunity
ERICA project kick-off
EJP RD Rare Disease Day Video
Health Awareness Rare Disease Day 2021 campaign
New leaflet for patients on Muscle tightness & stiffness – “spasticity” in ataxia
ERN-RND recorded webinar: “Improving care for rare disease patients in Europe – Rare Disease Day 2021”
“Der Weg zur europaweiten Zusammenarbeit” von Holm Graessner
ERN-RND recorded webinar: “Rare Disease Natural History Studies: Experience from the GNAO1 Natural History study in a pre and postpandemic world”
ERN-RND recorded webinar: “Progressive Supranuclear Palsy – Update on Diagnostics, Biomarkers and Therapies”
Research article: “Novel instructionless eye tracking tasks identify emotion recognition deficits in frontotemporal dementia”
Case report: “Video Case Report: Action Myoclonus After CAR-T Cell Therapy”
Rare Disease Day 2021 video
New ERN-RND project manager
New ERN-RND CPMS helpdesk
Brief report: “Development of SARAhome, a New Video‐Based Tool for the Assessment of Ataxia at Home”
ERN-RND February 2021 Newsletter
EJP RD research training workshop – call open
EURORDIS Leadership School – applications open
Review article: “The European Reference Network for Rare Neurological Diseases”
Research article: “Lower urinary tract and bowel dysfunction in spinocerebellar ataxias”
Virtual Meeting on How to Improve Access to Care for Huntington Families – recording available
Review article: “Hypomyelinating leukodystrophies — unravelling myelin biology”
Research article: “Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C”
Registration and abstract submission for the EAN Congress 2021 are open
Research article: “Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes”
No deal Brexit could have detrimental impact for four million people in UK living with a rare disease
ERN-RND December 2020 Newsletter
EURORDIS Black Pearl Awards 2021 – Submit your photo
EAN Congress 2021 goes virtual
Research article: “Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology”
Review article: “A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders”
Manifesto for a European Health Union – please SIGN
Research article: “A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype”
Research article: “Diagnostic approach to paediatric movement disorders”
New research article: “Low-frequency oscillation suppression in dystonia: Implications for adaptive deep brain stimulation”
ERN-RND November 2020 Newsletter
Research article: “Myoclonus‐Ataxia syndromes: a diagnostic approach”
SARA training tool by DZNE
EPNS Congress 2021 postponed
EJP RD Fellowship experience in Tübingen, Germany
Research article: “Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3”
ERN animation clip subtitled and dubbed in EU languages
Research article: “Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy”
EJP RD open call for Research Mobility Fellowships
Research article: “Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases”
Research article: “Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients”
Research article: “Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia”
Research video: “Criss-cross gait A clue to glucose transporter type 1 deficiency syndrome”
New ERN-RND registry coordinator
EJP RD open call for Selection of Topics for Research Training Workshops
Research article: “Huntington’s disease alters human neurodevelopment”
Research article: “Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study”
Research article: “Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders”
European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) –lay summary of the results of this 4-year Consortium study
ERN-RND September 2020 Newsletter
Research article: “Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study”
NEW ePAG patient advocate for Huntington’s disease from Bulgaria
Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
Jump for Dystonia competition in September
David Marsden Award 2021 – open call for submission
New FTD website by FTD talk team
SCA & ARCA Global Online Conference 2020 – Abstract submission
Webinars on Leukodystrophies by ELA Deutschland
Results of EFNA’s survey on stigma & neurological disorder
EURORDIS Winter School 2021
Share4Rare – new international patient registry for COVID-19
2020 CEF Telecom call – eHealth open
EAN sets up the Ean NEuro-covid ReGistrY (ENERGY)
#BrainLifeGoals campaign on World Brain Day 2020
NEW ePAG patient advocate for Leukodystrophies from Germany
Research article: “COVID‑19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia”
ERN-RND July 2020 Newsletter
SCA & ARCA Global online Conference – registration is open
EJP RD course “International Summer School on Rare Disease Registries and FAIRification of Data”
Research article: “Features of Speech and Swallowing Dysfunction in Pre-Ataxic Spinocerebellar Ataxia Type 2”
Dystonia Europe & European Huntington Association receive #BrainLifeGoals project grant
EPNS 2021, abstract submission open
NEW Euro-HSP Facebook page
ERN-RND June Newsletter 2020 – CORRECTION
EJP RD fellowship awarded to ERN-RND member
Research article: “Disease Progression and Prognostic Factors in Multiple System Atrophy: A Prospective Cohort Study”
Research article: “Awareness of rare and genetic neurological diseases among italian neurologist. A national survey”
EFNA position paper on patient involvement in research
NEW! ERN-RND introduction video
EJP RD Networking Support Scheme (NSS) open
ERN-RND at ECRD 2020 – summary
ERN-RND at EAN congress on 22-26 May 2020
Livre: “Huntington…et alors? Comprendre la maladie et vivre avec”
NEW! research article: “Management of rare movement disorders in Europe: outcome of surveys of ERN-RND”
May is Huntington’s Disease Awareness Month
ERN-RND May 2020 Newsletter
Research article: “Cerebrospinal Fluid YKL-40 and Chitotriosidase Levels in Frontotemporal Dementia Vary by Clinical, Genetic and Pathological Subtype”
Research article: “Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants”
ERN Newsletter – April 2020
Rare Barometer survey on rare disease patients’ experience of COVID-19
Research article: “Longitudinal dynamics of mutant huntingtin and neurofilament light in Huntington’s disease: the prospective HD-CSF study”
Research article: “Driving Performance in Patients With Idiopathic Cervical Dystonia; A Driving Simulator Pilot Study”
EAN Movement Disorders Scientific Panel recommendations for COVID-19 pandemic
Dystonia, patient advocacy and the future by Monika Benson
Recording of webinar on Huntington’s disease & COVID-19 available
Guidelines on EU Emergency Assistance in Cross-border Cooperation in Healthcare
Solve-RD brokerage call open
COVID-19: EURORDIS urges immediate action and proposes concrete solutions for rare disease patients
Webinar on 6 April: “Huntington’s Disease & COVID-19 pandemic – a difficult combination”
European Commission launches COVID-19 Clinical Management Support System
EAN Congress 2020 moves online
ECRD 2020 moves online
EFNA launches survey on stigma & neurological conditions
It’s #BrainAwarenessWeek 2020
European Reference Networks are 3 years old
SCA Global Conference 2020 CANCELLED
New EHA video on ERN-RND
ARCA Global Conference 2020 CANCELLED
ERN-RND Patient advocates meeting report, 30 January 2020
ERN-RND Survey: “Research Priorities” for patients
EJP RD calls for funding – ERNs only
Successful ERN-RND Registry Application!
New #RareDiseaseDay 2020 poster available!
ERN-RND welcomes new affiliated partners
New EJP RD call: Networking Support Scheme is open!
“ERNs in a crucial phase of enlargement”
ERN Newsletter is out!
Euro-ataxia publishes patient charter
EAN 2020 abstract submission is open!
#BrainLifeGoals photo competition, submit a photograph!
European Conference on Rare Diseases & Orphan Products 2020, submit your poster abstract!
100 days to go until Rare Disease Day 2020!
SCA Global Conference registration + poster abstract submissions open!
Call to apply to join an ERN is open until 30 November 2019
First call for new members to join existing 24 ERNs to be launched on 30 Sept. until 30 Nov.
French MSA patient organisation ARAMISE launches fundraising campaign
EBC, EFNA & EAN sent joint open letter to EU leaders
The Ataxia Global Initiatives website is live!
Research News: “A clinical diagnostic algorithm for early onset cerebellar ataxia”
Frequently Asked Questions for the ERN call for membership
Additional documentation available to prepare applications for the 2019 ERN call for membership
Dystonia Awareness Month
Interview with Daria Julkowska, coordinator of the European Joint Programme on Rare Diseases
European Commission launches Horizon Europe public consultation
2019 call for membership to the existing ERNs to open soon
Report – European Academy of Neurology Congress 2019
Report – ERN-RND Annual Meeting 2019
MSA Trust is accepting new and innovative project grant applications for Research Grant Round 2019
Two statements adopted on ERNs integration into the national health systems and cooperation with industry
First ERN Newsletter published by EU Commission’s DG Health
EJP-RD survey – please take 5min to complete it
PETITION – Call for increased emphasis on brain research in the strategic plan for Horizon Europe
European Brain Council Election Manifesto
Dystonia Europe survey – please participate
EAN interviews ERN-RND coordinator Holm Graessner
#BrainLifeGoals project grants from EFNA
Brain, Mind and Pain #BookofEvidence for 2019-2024 EU mandate released
Postdoc in Computational Genomics at the University Hospital Tübingen – Applications open!
Report – First SCA Global Conference
MoU signed between ERN-RND & EAN
The ERNs are getting ready for the challenges of enlarging the ERNs
Call for Proposals – Grant Opportunity for BPAN and MPAN research
18 February 2019 | Trial readiness and registries in RND workshop report
Rare Disease Day: a new EU platform to support better diagnosis and treatment
The ERNs are building a common training and eLearning strategy
ERN-RND, ZSE and Solve-RD coordinating offices on #RareDiseaseDay
Living with ataxia and advocating around the world #RareDiseaseDay
Working in the BRAIN-TEAM: raising awareness of rare diseases daily #RareDiseaseDay
Being diagnosed at the centre of rare diseases in Tübingen (ZSE) #RareDiseaseDay
Pediatric ataxias – the daily work of a clinician in Italy #RareDiseaseDay
ERN-RND member Pr Boespflug-Tanguy & team find new Leukodystrophies gene and potential treatment
ERN-RND short fellowship experience in Tübingen, Germany
Full report – 4th European Reference Networks Conference
New European Joint Programme on Rare Diseases – €100 million allocated to rare disease research
Poster – Diagnostic flowcharts, a tool to disseminate expert knowledge on rare neurological diseases
New #EUProtects video released by the European Commission
Poster: “CPMS use cases in ERN-RND”
Poster: ERN-RND – Survey research priorities
Summary report – 4th Conference on European Reference Networks
New ERN video and flyer for patients and healthcare professionals
Executive Summary – 9th European Conference on Rare Diseases and Orphan Products
ERN-RND Fellowship experience in Tübingen, Germany
ERN-RND has affirmed the value of the Ataxia-UK guideline “Management of the ataxias towards best clinical practice” (Ataxia UK, 3rd edition, July 2016)
ERN-RND Fellowship
ERN-RND Annual Meeting 2018
Solve-RD project
MoU signed between ERN-RND & MDS-ES
@ERN_RND is on Twitter!
1st ERN-RND Winter School
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ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases