- Survey on Myoclonus Dystonia Syndrome
Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects. For this survey two … Continue reading “Survey on Myoclonus Dystonia Syndrome” - The Importance of Newborn Screening for Metachromatic Leukodystrophy (MLD)
MLD is a neurodegenerative disorder, that affects children at a very young age, leading to a premature death. In a … Continue reading “The Importance of Newborn Screening for Metachromatic Leukodystrophy (MLD)” - Conference: Towards an EU Action Plan on Rare Diseases
What is the use of Patient Registries? And how does data sharing in the ERNs work? Our coordinator Holm Graessner … Continue reading “Conference: Towards an EU Action Plan on Rare Diseases” - Interview: “de neuroloog” with Holm Graessner about the neurological ERNs
What do centres of expertise gain from participating in an ERN?Graessner: An immediate advantage is when doctors at such a … Continue reading “Interview: “de neuroloog” with Holm Graessner about the neurological ERNs” - MEP Meeting on Brain Health and Neurological Conditions
“Does current policy meet the needs of the rare neurology community” and “The impact of rare neurological conditions, through the … Continue reading “MEP Meeting on Brain Health and Neurological Conditions” - Solve-RD: Interview with coordinator Holm Graessner
Within the Solve-RD project, over 300 experts from different European countries and Canada re-analysed genome data from undiagnosed 6447 patients. … Continue reading “Solve-RD: Interview with coordinator Holm Graessner” - Holm Graessner becomes Lancet Commissioner
Our coordinator Holm Graessner is now commissioner for the freshly launched Rare Diseases International Lancet Commission on Rare Diseases (RDI-LCRD)! … Continue reading “Holm Graessner becomes Lancet Commissioner” - Meeting with MEPs for Rare Disease Day
Rare Disease Day is coming up! Join us for shaping the future on policy for Rare Neurological Diseases on February … Continue reading “Meeting with MEPs for Rare Disease Day” - ERN-RND now on BlueSky!
You can now find us on BlueSky: @ern-rnd.bsky.social Did you know that BlueSky was conceptualized in 2019 by former Twitter CEO … Continue reading “ERN-RND now on BlueSky!” - NGS: European Quality Assessment for ERN-RND centersWhy is a quality assessment on European level important for next generation seuencing (NGS)? What needs to be improved and … Continue reading “NGS: European Quality Assessment for ERN-RND centers”
- 6th ERN-RND Winter School
The European Pediatric Neurology Society (EPNS) and the European Reference Network for Rare Neurological Diseases (ERN-RND) are organizing a Winter … Continue reading “6th ERN-RND Winter School” - Annual Meeting 2025
We are happy to announce that the ERN-RND annual meeting 2025 will be in the Tutzing Castle (close to Munich) … Continue reading “Annual Meeting 2025”
Skip to content
ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases