Category: News

From September 29th to October 1st the annual meeting took place at the CRONA-Kliniken in Tübingen. We are happy that besides the online participants also many on-site participants were present. We would like to thank all participants again for the inspiring presentations, discussions and the valuable exchange.

Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association, participated in Tübingen and says:

In my opinion this network will be an important part of providing expertise and best practise treatment and support to RND patients all over Europe.

Read the full article here

In a new leaflet in our section disease knowledge we answer the questions what a recessive ataxia is, which symptoms indicate Friedreich`s ataxia and which forms of treatment are available.

Read more.

Continue reading “EJP RD funded- 6th Call for ERN-Workshops”

Continue reading “ERN-RND supports Open letter to the European Commission”

Rare Diseases Doctors

The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian patients.

Rare Diseases Hub Ukraine

This application connects patients from Ukraine with a rare disease with organizations and hospitals, members of the European Reference Network (ERN), with the aim to provide the specialized medical support they may need during this emergency.

Continue reading “Publication: “Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy””

Continue reading “Publication from the European Metachromatic Leukodystrophy initiative (MLDi)”

Continue reading “Publication: “Therapy Trial Design in Vanishing White Matter – An Expert Consortium Opinion””

Continue reading “United Nations adopts Resolution on persons with rare diseases”

Continue reading “33 new ERN-RND members!”

Continue reading “EURORDIS Photo Award”

Continue reading “New CPMS helpdesk”

Continue reading “Editorial: Networks in Movement Disorders. To Move or Not to Move”

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

Continue reading “Available from EJP RD: MOOC Diagnosing Rare Diseases: from the Clinic to Research and back”

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

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

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

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

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

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

Continue reading “EURORDIS Black Pearl Awards – nominations open”

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

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

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

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

Continue reading “A first trial of Guanabenz in Vanishing White Matter”

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

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