Gain deeper insights into the role of non-coding variants in rare diseases with Nicola Whiffin during our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” on May 5th at 11:30 CEST.
Register for free: https://t1p.de/wsatw
Programme: https://t1p.de/xp523
Interested in NGS for Leukoencephalopathies? Join Fanny Mochel during our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” on May 7th at 13:00 CEST.
Registration is free of charge: https://t1p.de/wsatw
Programme: https://t1p.de/xp523
#NGS
Join Diana Baralle for a session on the application of RNAseq in RD during our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” on May 5th at 9:00 CEST.
Registration is free of charge: https://t1p.de/wsatw
Programme: https://t1p.de/xp523
#NGS #RNAseq
📧✨ The fourth edition of the JARDIN newsletter is coming soon!
Subscrite today and be among the first to discover:
🌍 Updates from work packages
💼 Highlights from Member States
📅 ERN news
👥 Stories and developments impacting people living with #RareDiseases
👉 https://jardin-ern.eu/newsletter
Join us to explore the role of Bioinformatic Tools for Diagnosing Rare Diseases with Christian Gilissen at our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases" on May 5th at 10:30 CEST.
Register for free: https://t1p.de/wsatw
Programme: https://t1p.de/xp523
Get the latest news on Rare Neurological Diseases with our #newsletter. This month: our upcoming #SpringSchool in May, our new guideline for neurogenic urinary and sexual symptoms, a video talk competition for patients and patient advocates and many webinars & events: www.ern-rnd.eu?mailpoet_rou...
Gain deeper insight into the application of NGS for HD and Chorea with Larissa Arning-Bünder during our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” on May 7th at 11:30 CEST.
Register for free: https://t1p.de/wsatw
Programme: https://t1p.de/xp523
Join Georgios Koutsis for a session on the application of NGS for Atypical Parkinsonian Syndromes during our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” on May 7th at 9:45 CEST.
Register for free: https://t1p.de/wsatw
Programme: https://t1p.de/xp523
Join us to explore the role of snRNA Genes in Neurodevelopmental Disorders with Christel Depienne at our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases" on May 5th at 12:15 CEST.
Register for free: https://lnkd.in/dwPKM_nT
Programme: https://lnkd.in/dng72mJU
Gain deeper insight into NGS for Dystonia, Paroxysmal Disorders and NBIA with Michael Zech during our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” on May 7th at 12:15 CEST.
Register for free: https://lnkd.in/dwPKM_nT
Programme: https://lnkd.in/dng72mJU
Do you want to know the role of #episignatures in diagnostics of rare diaseases? Then don't miss this talk by Camille Charbonnier at our #SpringSchool on "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” on May 5th. Registration: lnkd.in/dwPKM_nT
Programme: lnkd.in/dng72mJU
🦓✨ Over the past weeks, we have shared the stories of people living with a rare disease.
💜 Thank you to everyone who so generously shared their personal stories for #RareDiseaseDay.
🌐 Explore them and share them with your networks 📚 jardin-ern.eu/european-reference-netwo...
For years, patients with lymphoedema were told not to exercise. The evidence says otherwise.
5 key takeaways from our recent webinar on physical activity and primary lymphoedema.
Watch the full recording: youtu.be/MQxDx1m57ic?...
🗣️Patients’ rights in cross-border healthcare and the European Reference Networks #ERNs
María del Mar Mañú Pereira, Scientific Coordinator of ERN-EuroBloodNet, will contribute to Session 3 of the program in her role as Vice-Chair of the TRIO of the 24 ERNs.
eurobloodnet.eu/news/716/hig...
🇺🇦 Paediatric Urology Webinar Series for Ukraine: Bladder Exstrophy
🗓 19 March
⏰ 18:00 CET / 19:00 EET
🎙 Prof. Alaa El-Ghoneimi, Prof. Marc-David Leclair, Assoc. Prof. Gundela Holmndahl
🔗 events.zoom.us/ev/AlnMBiNyx...
#EUfunded #EU4Health #HealthUnion #RareDisease #ERNs #PedUro #SoMe4PedSurg
Learn more about "Next Generation Sequencing Diagnostics for Rare Neurological Diseases” at our #SpringSchool on on May 5-7
Day 1 focuses on #NGS technologies, like bioinformatic tools, #episignatures, #RNAseq and non-coding variants.
Registration: lnkd.in/dwPKM_nT
Programme: lnkd.in/dTQ2SiTk
💻 Upcoming #webinar on “Palliative care for leukodystrophies and other rare neurological diseases (pediatric focus)”
📅 17th March, 3:00 CET
🗣️ Nicole Wolf, Amsterdam University Medical Centers, Netherlands
Sign up 👉https://t1p.de/xottw
Joint with the @euronmd.bsky.social and @ean.org
💻 Upcoming #webinar on “Palliative care for leukodystrophies and other rare neurological diseases (pediatric focus)”
📅 17th March, 3:00 CET
🗣️ Nicole Wolf, Amsterdam University Medical Centers, Netherlands
Sign up 👉https://t1p.de/xottw
Joint with the @euronmd.bsky.social and @ean.org
💻 Upcoming #webinar on “Palliative care for leukodystrophies and other rare neurological diseases (pediatric focus)”
📅 17th March, 3:00 CET
🗣️ Nicole Wolf, Amsterdam University Medical Centers, Netherlands
Sign up 👉https://t1p.de/xottw
Joint with the @euronmd.bsky.social and @ean.org
Want to stay informed about #RareNeurologicalDiseases? Don’t miss our newsletter for the latest updates, resources, and stories: www.ern-rnd.eu?mailpoet_rou...
Subscribe to our monthly #newsletter here: www.ern-rnd.eu/news/newslet...
Spring School “Next Generation Sequencing Diagnostics for Rare Neurological Diseases” - May 5–7, online and free of charge. Don't miss it and register now!
Registration: ec.europa.eu/eusurvey/run...
Programme: www.ern-rnd.eu/wp-content/u...
#NextGenerationSequencing #RareNeurologicalDiseases
💻 Upcoming #webinar on “Getting the Most Out of Physiotherapy in Dystonia”
📅 3rd March, 3:00 CET
🗣️Maarten Nijkrake, Radboud University Medical Center, Nijmegen, The Netherlands
Sign up 👉 https://t1p.de/ll1py
Joint with the @euronmd.bsky.social and @ean.org
#Physiotherapy #Dystonia #RareDisease
💻 Upcoming #webinar on “Getting the Most Out of Physiotherapy in Dystonia”
📅 3rd March, 3:00 CET
🗣️Maarten Nijkrake, Radboud University Medical Center, Nijmegen, The Netherlands
Sign up 👉 https://t1p.de/ll1py
Joint with the @euronmd.bsky.social and @ean.org
#Physiotherapy #Dystonia #RareDisease
@jardinjointaction.bsky.social @epnsnews.bsky.social @eurordis.bsky.social
Today is #RareDiseaseDay and this year it's all about #Equity Equity means more than awareness — it means real access. But that is often not given. A common every day example are "accessible" hotel rooms, as our patient advocate Lori Renna Linton is showing in this video
youtube.com/shorts/yle9R...
Something exciting is on the way - stay tuned!
youtube.com/shorts/d9Xqi...
Our ePAGs John Gerbild & Nataliya Grigorova at the EURODIS Black Pearl Awards yesterday evening! Nataliya received the Holistic Care Award for her work in the Bulgarian Huntington Association - Congratulations, and keep up the good work! More about the association:
www.eurordis.org/black-pearl-...
💻 Upcoming #webinar on “Getting the Most Out of Physiotherapy in Dystonia”
📅 3rd March, 3:00 CET
🗣️Maarten Nijkrake, Radboud University Medical Center, Nijmegen, The Netherlands
Sign up 👉 https://t1p.de/ll1py
Joint with the @euronmd.bsky.social and @ean.org
#Physiotherapy #Dystonia #RareDisease
💻 Upcoming #webinar on “Palliative care for leukodystrophies and other rare neurological diseases (pediatric focus)”
📅 17th March, 3:00 CET
🗣️ Nicole Wolf, Amsterdam University Medical Centers, Netherlands
Sign up 👉https://t1p.de/xottw
Joint with the @euronmd.bsky.social and @ean.org
Myoclonus Dystonia often begins in childhood, yet it’s frequently mistaken for more common conditions like cerebral palsy. This misdiagnosis can delay accurate answers and effective care for years.
Learn more about the condition in our video interview with Belén Dueñas Pérez. youtu.be/HgpHRkNAwaQ
