ERN-RND – Page 13 – ERN-RND | European Reference Network on Rare Neurological Diseases

30 January 2020 | ERN-RND ePAG meeting

28 January 2020 | ERN-RND webinar “introduction to leukodystrophies”

Continue reading “28 January 2020 | ERN-RND webinar “introduction to leukodystrophies””

21 January 2020 | ERN-RND webinar “immune-mediated choreas”

Continue reading “21 January 2020 | ERN-RND webinar “immune-mediated choreas””

Successful ERN-RND Registry Application!

Continue reading “Successful ERN-RND Registry Application!”

14 January 2020 | ERN-RND webinar “inherited ataxias”

Continue reading “14 January 2020 | ERN-RND webinar “inherited ataxias””

New #RareDiseaseDay 2020 poster available!

Continue reading “New #RareDiseaseDay 2020 poster available!”

ERN-RND welcomes new affiliated partners

Continue reading “ERN-RND welcomes new affiliated partners”

17 December | ERN-RND webinar “non-progressive congenital ataxia”

Continue reading “17 December | ERN-RND webinar “non-progressive congenital ataxia””

New EJP RD call: Networking Support Scheme is open!

Continue reading “New EJP RD call: Networking Support Scheme is open!”

16 December | Solve-RD webinar “RD-Connect GPAP – advanced platform features”

Continue reading “16 December | Solve-RD webinar “RD-Connect GPAP – advanced platform features””

9 December | Solve-RD webinar “RD-Connect GPAP – basic analysis”

Continue reading “9 December | Solve-RD webinar “RD-Connect GPAP – basic analysis””

6 December | Journée Nationale Maladie de Huntington

Continue reading “6 December | Journée Nationale Maladie de Huntington”

“ERNs in a crucial phase of enlargement”

Continue reading ““ERNs in a crucial phase of enlargement””

ERN Newsletter is out!

Continue reading “ERN Newsletter is out!”

Euro-ataxia publishes patient charter

Continue reading “Euro-ataxia publishes patient charter”

3 December | ERN-RND webinar “Neuroacanthocytosis syndromes, a rare chorea”

Continue reading “3 December | ERN-RND webinar “Neuroacanthocytosis syndromes, a rare chorea””

27-29 November | Annual Meeting DASNE

Continue reading “27-29 November | Annual Meeting DASNE”

EAN 2020 abstract submission is open!

Continue reading “EAN 2020 abstract submission is open!”

26 November | 5th BRAIN-TEAM patient organisations day

Continue reading “26 November | 5th BRAIN-TEAM patient organisations day”

#BrainLifeGoals photo competition, submit a photograph!

Continue reading “#BrainLifeGoals photo competition, submit a photograph!”

European Conference on Rare Diseases & Orphan Products 2020, submit your poster abstract!

Continue reading “European Conference on Rare Diseases & Orphan Products 2020, submit your poster abstract!”

100 days to go until Rare Disease Day 2020!

Continue reading “100 days to go until Rare Disease Day 2020!”

SCA Global Conference registration + poster abstract submissions open!

Continue reading “SCA Global Conference registration + poster abstract submissions open!”

14-16 November | International Ataxia Research Conference (IARC) 2019

Continue reading “14-16 November | International Ataxia Research Conference (IARC) 2019”

5 November | ERN-RND webinar “Clinical Features of Ataxia”

Continue reading “5 November | ERN-RND webinar “Clinical Features of Ataxia””

29-30 October | Organising & maximizing rare disease biological sample data in biobanks

Continue reading “29-30 October | Organising & maximizing rare disease biological sample data in biobanks”

23-25 October | Training course: Quality assurance, variant interpretation and data management in the NGS diagnostics era

Continue reading “23-25 October | Training course: Quality assurance, variant interpretation and data management in the NGS diagnostics era”

24 October | WEBINAR: “CPMS upcoming changes”

Continue reading “24 October | WEBINAR: “CPMS upcoming changes””

24 October | WEBINAR: “Diagnostic imaging in NMD: the basics”

Continue reading “24 October | WEBINAR: “Diagnostic imaging in NMD: the basics””

3-4 October | 8th Annual Symposium on ATP1A3 in Disease

Continue reading “3-4 October | 8th Annual Symposium on ATP1A3 in Disease”

Clinical Practice for Primary Progressive Aphasia (PPA) – Interview with Robert Rusina
May 5, 2025
It takes „about one year from the first symptoms to the first consultation of a physician, and another one year …read more »
Survey on Myoclonus Dystonia Syndrome
April 10, 2025
Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects. For this survey two …read more »
The Importance of Newborn Screening for Metachromatic Leukodystrophy (MLD)
April 7, 2025
MLD is a neurodegenerative disorder, that affects children at a very young age, leading to a premature death. In a …read more »

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Der Code des Lebens @dercodedeslebens.bsky.social 3 days

📣 Neue Folge: Von Basenpaaren und Bytes
Das menschliche Genom hat 3 Milliarden Basenpaare – eine riesige Datenflut, die nur mit Bioinformatik zu bewältigen ist. Camill Kaipf erklärt, wie man in dieses Feld kommt und warum eine sichere IT-Infrastruktur so wichtig ist.
🎧 t1p.de/xebt4
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The German Human Genome-Phenome Archive @ghga.bsky.social 1 week

🎬 In case you missed our webinar on Benchmarking and quality control for genomic variant calling with Johannes Köster., you can now watch the recordings on our Training Website: www.ghga.de/resources/tr...
The slides are also available on GHGA GitHub: github.com/GHGA-Trainin...
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ERKNet - European Reference Network for Rare Kidney Diseases @erknet.bsky.social 2 weeks

Erksplain - Kidney Transplantation 🚨

Kidney transplants save lives — but the average wait is 6–8 years.
Deceased donors are matched by urgency and compatibility.
Most people can donate — just register or tell your family! 💡

Organ donation = a true gift of life. 🌍

#KidneyTransplant #SaveLives
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ERN-RND @ern-rnd.bsky.social 2 weeks

💻 U#webinar#webinar on “Recent Advances in Clinical Trials in Multiple System Atrophy”
📅 20th May, 3:00 CEST
🗣️ David Bendetowicz, University Hospital Bordeaux, France
Sign https://t1p.de/ri7k3de/ri7k3
Joint with the European Reference Network for Rare Neuromuscular Diseases and
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ERN-RND @ern-rnd.bsky.social 2 weeks

💻 U#webinar#webinar on “Neurogeriatric Aspects in Rare Forms of Ataxia and HSP”
📅 13th May, 3:00 CEST
🗣️ Eleni Zamba-Papanicolaou, Cyprus Institute of Neurology and Genetics
Sign https://t1p.de/v8r2hde/v8r2h
Joint with the European Reference Network for Rare Neuromuscular Diseases and