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

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

Continue reading “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

Continue reading “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”

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

Launch of the ERN Research Training Workshops funding opportunity

Continue reading “Launch of the ERN Research Training Workshops funding opportunity”

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

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

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

Continue reading “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”

Continue reading “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

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

EURORDIS Black Pearl Awards – nominations open

Continue reading “EURORDIS Black Pearl Awards – nominations open”

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

Continue reading “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!

Continue reading “Share your reason for Europe to take action on rare diseases!”

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

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

International Summer School on Rare Disease Registries and FAIRification of Data

Continue reading “International Summer School on Rare Disease Registries and FAIRification of Data”

A first trial of Guanabenz in Vanishing White Matter

Continue reading “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

Continue reading “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

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

CPMS tutorial video for ERN-RND clinicians now available

Continue reading “CPMS tutorial video for ERN-RND clinicians now available”

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

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

OneNeurology Global Advocacy Workshop 2021

Continue reading “OneNeurology Global Advocacy Workshop 2021”

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

Continue reading “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”

Continue reading “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

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

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

Continue reading “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

Continue reading “‘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”

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

Category: News

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”