ern-rnd.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

Join us on March 12th for our free #WinterSchool session with Marlen Lauffer, focusing on “Treatment of Nano-rare Neurological Diseases”, in collaboration with EPNS - European Paediatric Neurology Society. Register now: https://t1p.de/eajix Programme: https://t1p.de/jrxm9 #nanoraredisease

submitted 13 hours ago • 0 comments

#RareDiseaseDay - what is this about? Take a look! https://youtu.be/WVDa1BD0K94 #RareDiseaseDay2025 @erdera.bsky.social @eurordis.bsky.social @ec.europa.eu

submitted 13 hours ago • 0 comments

#RareDiseaseDay is coming up! Help us raise awareness for those living with a rare disease and take a look at our video with our patient representative Astri, who is sharing her past experience with doctors and showing the need for a #PatientJourney. More here: www.ern-rnd.eu/disease-know...

submitted 1 day ago • 0 comments

Interested in "Treatment of Aromatic l-amino Acid Decarboxylase (AADC) Deficiency"? Register for our free #WinterSchool with Thomas Opladen on March 12th, in collaboration with EPNS - European Paediatric Neurology Society. Register now: https://t1p.de/eajix Programme: https://t1p.de/jrxm9

submitted 2 days ago • 0 comments

#ERNs - this is where RARE Patients and RARE Experts come together generating REAL outcomes! There are 24 European Reference Networks specialized in different fields. Learn more here: jardin-ern.eu and read about our success stories here: t1p.de/mbg18 @ec.europa.eu @erdera.bsky.social

submitted 3 days ago • 0 comments

🚨 When the right doctor is in another country, how do rare disease patients get care? European Reference Networks (ERNs) are virtual networks connecting experts across the EU, ensuring patients get the right treatment no matter where they live. Learn more ➡️ bit.ly/3D5yYE0 #RareDiseaseDay

submitted 4 days ago • 0 comments

🧬 AI, die Genome schreibt? Evo-2, eine KI-Modell was mit 128000 Genomen trainiert wurde, kann ganze Chromosomen generieren, nicht-kodierende DNA entschlüsseln & Mutationen vorhersagen. Ein Schritt Richtung Genomdesign –Science Fiction oder Zukunft? #KI #Genomik #Evo2 www.nature.com/articles/d41...

submitted 4 days ago • 1 comment

📢 This week marks #RareDiseaseDay — a key moment to raise awareness, advocate for better access to treatment, and improve medical representation for those living with a rare disease. 🗣 Stay tuned as we share insights from diverse voices in the #RareDisease community! 💪 #ERDERA

submitted 4 days ago • 0 comments

24 #ERNs - 1,613 specialised centres and 380 hospitals in 27 EU states - are helping to improve lives of patients living with rare diseases (6-8% of European citizens). How are ERNs doing that? Through patient journeys & many more: t1p.de/mbg18 www.youtube.com/watch?v=NHpG... @ec.europa.eu

submitted 4 days ago • 0 comments

Discover the latest insights on "Treatment of Metachromatic Leukodystrophies" with Francesca Fumagalli in our free #WinterSchool on March 12th, in collaboration with EPNS - European Paediatric Neurology Society. Register now: https://t1p.de/eajix Programme: https://t1p.de/jrxm9 #Leukodystrophy

submitted 4 days ago • 0 comments

🌟Meet...🌟 We have had the pleasure of meeting these wonderful #PatientOrganizations at the 2025 #IPNA in #SouthAfrica, so we thought you should meet them too! ❤️ Swipe to find out more about these 4 inspiring organizations making a difference in South Africa’s #raredisease community!

submitted 6 days ago • 0 comments

Something's going on here...follow us to find out soon! #RareDiseaseDay #RareDiseaseDay2025

submitted 10 days ago • 0 comments

Interested in the "Treatment of Spasticity"? Join this talk by Annemieke Buizer in our free #WinterSchool on March 13th, together with EPNS - European Paediatric Neurology Society. Register now: https://t1p.de/eajix Check out the full programme here: https://t1p.de/jrxm9 #Spasticity

submitted 7 days ago • 0 comments

"We need to sustain the European Reference Networks, and we don't need only the support on European levels, we also need the support of national governments, as we also need funding for the local hospitals" - Holm Graessner at the #MEP meeting Interest Group Brain Health and Neurological Conditions

submitted 9 days ago • 1 comment

Learn more about "Systematics of Movement Disorders Symptoms" - an introduction by Bart van de Warrenburg in our free #WinterSchool on March 13th, together with EPNS - European Paediatric Neurology Society. Register now: https://t1p.de/eajix Check out the full programme here: https://t1p.de/jrxm9

submitted 9 days ago • 0 comments

TONIGHT! Join an @erneurogen.bsky.social webinar supported by @espu.bsky.social: 🖥 Long-Term Outcomes in #Hypospadias 👥 Anne-Françoise Spinoit & Lloyd Tack 📅 Wednesday 19 February, 18:00 CET 🔗 https://buff.ly/3XnnPpd #EUfunded #HealthUnion #EU4Health #UroSoMe #Urology #PedUro #SoMe4PedSurg

submitted 9 days ago • 0 comments

📣 Attention researchers & grant application support teams! Are you based in a country that hosts quite low numbers of ERC grants? Interested in applying for ERC funding? Looking for support and guidance? Join our info sessions on the 6th and 12th of March 2025! Register 👉 europa.eu/!KVbk4Y

submitted 9 days ago • 0 comments

📢 One week until #RareDiseaseDay! On 28 February, we stand with the 300 million people living with a rare disease to raise awareness, promote policy change, and advance research. 🌍💙 🗓️ Stay tuned for more updates as we mark this important day! #RareDiseases

submitted 10 days ago • 0 comments

Something's going on here...follow us to find out soon! #RareDiseaseDay #RareDiseaseDay2025

submitted 10 days ago • 0 comments

Learn more about "Treatment of Ataxia – Genetics Based" by Willeke van Roon-Mom in our free #WinterSchool on March 13th, together with EPNS - European Paediatric Neurology Society. Register now: https://t1p.de/eajix Check out the full programme here: https://t1p.de/jrxm9 #Ataxia

submitted 11 days ago • 0 comments

Interested in the "Treatment of #Dystonia"? Register now for our online #WinterSchool and listen to Norbert Brüggemann's talk about it on March 13 - organized together with the European Paediatric Neurology Society. Registration: ec.europa.eu/eusurvey/run... Programme: www.ern-rnd.eu/wp-content/u...

submitted 14 days ago • 0 comments

Learn more about "Cognitive and Psychiatric Treatment in Huntington’s Disease" by Mayke Oosterloo in our free #WinterSchool on March 14- together with EPNS. Register now: ec.europa.eu/eusurvey/run... Check out the full programme here: www.ern-rnd.eu/wp-content/u... #Huntington #HuntingtonDisease

submitted 16 days ago • 0 comments

Does Current Policy Meet the Needs of the Rare Neurology Community? - our coordinator Holm Graessner is participating in this panel with the #MEP Interest Group Brain Health and Neurological Conditions on February 19, 10-12 CET. Register now for online participation: www.efna.net/mep-february...

submitted 16 days ago • 0 comments

Our coordinator Holm Graessner is now commissioner for the freshly launched "Rare Diseases International", the #Lancet Commission on Rare Diseases! We feel really honoured that among the 27 commissioners he is the only one coming from an #ERN. https://www.rarediseasescommission.org/

submitted 23 days ago • 0 comments

"Having a diagnosis for patients, who had no diagnosis, is the most important thing" - over 300 experts from the #EU and Canada re-analysed genome data from 6447 patients and were able to diagnose 506 patients and their families. More about this reasearch project: www.radboudumc.nl/en/news-item...

submitted 18 days ago • 0 comments

📣 Neue Podcast-Folge: Ungelöste Fälle? Genetische Re-Analyse! Solve-RD ermöglicht durch genetische Re-Analyse Diagnosen für viele undiagnostizierte Patient:innen. Dr. Holm Graeßner & @ahoischen.bsky.social erzählen mehr. Jetzt reinhören: codedeslebens.podigee.io/37-genetisch...

submitted 24 days ago • 0 comments

#RareDisease #newsletter on neurological issues - stay updated with our monthly news! www.ern-rnd.eu?mailpoet_rou...

submitted 20 days ago • 0 comments

"Many people think about #HuntingtonsDisease (HD) as a movement disorder - but it's not" - did you know that even doctors are not familiar with all specifics of #HD? Our patient journey visualizes the different stages of HD - as short overview. In 15 languages: www.ern-rnd.eu/disease-know...

submitted 23 days ago • 0 comments

Get your news on #RareNeurologicalDiseases with our #newsletter - this month: free #WinterSchool on "Challenges of Treating Rare Neurological Diseases", #RareDiseaseDay and many more events, new publications (Solve-RD, #NGS), a national workshop (France), free webinars www.ern-rnd.eu?mailpoet_rou...

submitted 22 days ago • 0 comments

"Many people think about #HuntingtonsDisease (HD) as a movement disorder - but it's not" - did you know that even doctors are not familiar with all specifics of #HD? Our patient journey visualizes the different stages of HD - as short overview. In 15 languages: www.ern-rnd.eu/disease-know...

submitted 23 days ago • 0 comments

Our coordinator Holm Graessner is now commissioner for the freshly launched "Rare Diseases International", the #Lancet Commission on Rare Diseases! We feel really honoured that among the 27 commissioners he is the only one coming from an #ERN. https://www.rarediseasescommission.org/

submitted 23 days ago • 0 comments

German Podcast about the solveRD (genetic reanalysis) project with our coordinator Holm Graessner. Paper: solve-rd.eu/new-solve-rd... Press Release: www.radboudumc.nl/en/news-item...

submitted 24 days ago • 0 comments

With our coordinator Holm Graessner as panelist! Register now for online participation.

submitted 24 days ago • 0 comments

Are you looking for #experts for rare diseases? The #EuropeanReferenceNetworks have experts in 24 different fields: for example a whole network on rare uro-recto-genital diseases. Meet @erneurogen.bsky.social

submitted 28 days ago • 0 comments

#Registration for our joint Winter School with EPNS is now OPEN! It will focus on "Challenges of Treating Rare Neurological Diseases" and will be held online from March 12-14! Register now: ec.europa.eu/eusurvey/run... Programme: www.ern-rnd.eu/education-tr...

submitted 38 days ago • 1 comment

Cross-border healthcare within the #EU? The "European Reference Networks for Rare Diseases" (ERNs) make that possible! There are 24 ERNs, co-funded by the @ec.europa.eu. Meet @vascern.bsky.social - the experts on Rare Multisystemic #VascularDiseases

submitted 31 days ago • 0 comments

💬"In the last decades, we have seen an increase in the burden of disease, and that will highly likely increase further". Last Nov. 13, the CSA BrainHealth Coordinator joined the #BIDays2024 to discuss ways to accelerate #brain #research and #innovation. 📺 Replay: youtu.be/ZYLcqUS4_k0?...

submitted 43 days ago • 0 comments

This Wednesday, don't miss it! Free webinar on children, #DeepBrainStimulation and #Dystonia

submitted 32 days ago • 0 comments

#RareDiseaseDay is coming up! Join us for shaping the future on policy for #RareNeurologicalDiseases on February 19. Join the meeting with the #MEP Interest Group Brain Helath & Neurological Conditions together with our coordinator Holm Graessner. Participate online: www.efna.net/mep-february...

submitted 32 days ago • 0 comments

How much do you know about #CervicalDystonia? #RareDisease, neurological... but do you know how everyday life looks like for people living with a rare disease? Watch Lily's journey as her disease progresses in our short movie - based on real experience: www.ern-rnd.eu/disease-know...

submitted 36 days ago • 0 comments

Are you a #neurologist, a #patient or a carer and are dealing with diseases like #Dystonia, #Leukodystrophy, #HuntingtonsDisease, #Ataxia or #HSP? Then follow us for news on #RareNeurologicalDiseases, free educational webinars, #PatientJourneys and cross-border #healthcare throughout the #EU.

submitted 39 days ago • 1 comment

Free #webinar on Children, #Dystonia and #DBS - January 29, 18 CET: us02web.zoom.us/j/88509145941, organised by the patient organization Dystonia Europe

submitted 37 days ago • 0 comments

🌟 Why Attend the RE(ACT) Congress & IRDiRC Conference 2025? 🌍 Shape the future of rare disease research with cutting-edge talks, networking, and a patient-centred focus. ✨ Join the #Rarevolution! 📅 Register by month-end: loom.ly/E9DWIro @rarevolution.bsky.social

submitted 38 days ago • 0 comments

#ERN National Day in Denmark: This year the focus was on workshops around similarities and differences between ERNs, in order to find a national approach to ERNs and a common use of orphan codes. Among them our ePAG John @gerbild.bsky.social and patient advocate Tenna Toft Sylvest.#

submitted 38 days ago • 0 comments

#Registration for our joint Winter School with EPNS is now OPEN! It will focus on "Challenges of Treating Rare Neurological Diseases" and will be held online from March 12-14! Register now: ec.europa.eu/eusurvey/run... Programme: www.ern-rnd.eu/education-tr...

submitted 38 days ago • 1 comment

🌟 Stay informed and join the journey to transform #raredisease research. 💙 Subscribe to #ERDERA's newsletter for: ✅ Updates on groundbreaking research ✅ Insights into cutting-edge innovations ✅ Opportunities to connect & collaborate 👉 Subscribe now: loom.ly/NxMGydc

submitted 43 days ago • 0 comments

🚨 Call for experts: International Rare Diseases Research Consortium seeks experts to support 5 new activities in rare diseases research: 1️⃣ Preventive Medicines 2️⃣ Regulatory Convergence 3️⃣ Youth Engagement 4️⃣ Stigma 5️⃣ Bridging Diagnostics & Therapies 📅 Apply by Feb 9, 2025 For details👉 loom.ly/7LnuVKM

submitted 42 days ago • 0 comments