This is one of my favourite stories from the Solve-RD project. We (CNV working group) discovered a previously missed CNV through our reanalysis of ES data, in what had to be the correct gene (CDH1) based on the cancer phenotype. Great follow up work from Carla Oliveira’s Lab 1/n

📢 We call upon all European rare disease stakeholders to partner to jointly improve rare disease diagnosis! 👉🏾 solve-rd.eu/tag/call-for-a…

Morgen betrachten wir mit Prof. Dr. Jan Kirschner und Dr. Inge Schwersenz das Thema Neugeborenenscreening (NBS). Was passiert während dem NBS? Welche Vorteile bietet es und gibt es bei diesem Thema auch ethische Bedenken? Mehr dazu morgen im Podcast 💡

Just like last year, let’s meet at the European Academy of Neurology Congress 2023! Registration still open at: ean.org/congress2023/r… 🗓1–4 Jul 2023 📍 Neurohood Area at booth N15, next to the booths of ern euro_nmd and EpiCARE #ERNRND #ean2023

Actress Carmel Stephens performs the patient journey of Huntington Disease supported by Astri Arnesenof European Huntington Association. 📚 ERN-RND: Patient Journey of a patient with a rare neurological disease (1) 🗓 1 Jul 2023, 12:30–1 PM 📍 EAN 2023, Scientific Theatre #ERNRND #ean2023

Join our ePoster session at the European Academy of Neurology Congress 2023! The ePoster is part of the session Education in neurology 📚 Structured, modular and competency-based postgraduate curriculum for RND 🗓 1 Jul 2023, 2:10–2:15 PM 📍 Room B2 🗣️ Holm Graessner #ERNRND #ean2023

Actress Carmel Stephens performs the patient journey of cervical dystonia supported by Monika Benson of Dystonia Europe 📚 ERN-RND: Patient Journey of a patient with a rare neurological disease (2) 🗓 2 Jul 2023, 2–2:30 PM 📍 EAN 2023,Scientific Theatre #ERNRND #ean2023

Last day to register for this course which is sure to be a cracker. Leslie Matalonga and I, from CNAG are looking forward to participating.

📢Today! Actress Carmel Stephens performs the patient journey of Huntington Disease supported by Astri Arnesen of European Huntington Association. 📚ERN-RND: Patient Journey of a patient with a rare neurological disease (1) 🗓1 Jul 2023, 12:30–1 PM 📍EAN 2023 Scientific Theatre #ERNRND #ean2023

Actual theater at European Academy of Neurology : actress performing the patient journey of a Huntington's disease patient. @ERN_RND 🧠

First (informal) session was a great success. “Cheese meta-genomics” - super knowledgeable “speaker” ;-) #delicious #savoirvivre #vivelafrance

#day1 #EAN2023 MEETING EAN- ERNs European Reference Networks: great collaborations and engagement on patients care pathways,guidelines, research! EpiCARE @ERN_RND 🧠 #ean2023 #neurology #congress #HomeOfNeurology

3 #EuropeanReferenceNetworks at the #EAN2023 🧠🤝 European Academy of Neurology ern euro_nmd @ERN_RND 🧠 #neurology

🔜 Solve-RD workshop on “Strategies for omics data analysis & reanalysis” 📅 20 June 2024, 12:00-13:30 CEST ℹ️ solve-rd.eu/solve-rd-indus… 📥Registrations: forms.gle/Gi91dKa98AzHQL… #RareDiseases #Omics #Genomics Alexander Hoischen Holm Graessner Vicente Yépez Steve Laurie AnnaEsteveCodina Christian Gilissen

So-well deserved!! 👨🏻‍🎓 Incredibly happy for you!! (And us 😉)

Congrats! Well done.

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To improve the diagnosis and treatment of rare neurological diseases, @ERN_RND 🧠 brings together leading experts and centers across Europe to improve diagnosis, care & treatment of RND patients. Learn more about ERN-RND, funded under #EU4Health: ern-rnd.eu #WBD2024

💻 Upcoming #ernRND joint webinar w/ ern euro_nmd European Academy of Neurology 📚 Genetic therapies and therapy developments for rare movement disorders 📅 23 July, 3 – 4 pm CET 🗣️ Willeke van Roon-Mom Leiden University medical center, Netherlands. Sign up 👉 t1p.de/ueksn

After 4 years+ of #ernRND and 8027 attendees from all over the globe, we are happy to announce that our #100th webinar is going to take place today at 15 CEST! Don't miss it: us02web.zoom.us/webinar/regist…