European Reference Network on congenital malformations and rare intellectual disability (ERN-ITHACA).
Joined September 2017
- Tweets1.1K
- Following364
- Followers1.2K
- Likes1.6K
ERN-ITHACA retweeted
"On a fait le deuil de la normalité."
À 13 ans, Maxence a l'âge mental d'un enfant de 2 ans et demi, il ne parle pas et ne sera jamais vraiment autonome. Il fait partie des 1600 personnes dans le monde atteintes du syndrome de Pitt-Hopkins, une maladie génétique extrêmement rare. Pour ses parents et ses soeurs, il a fallu apprendre à vivre "en faisant attention à tout". Et finalement, "ça ressemble quand même à une vie de famille plutôt heureuse !"
Notre journaliste Laura les a suivis le temps d'une journée, dans leur quotidien.
ERN-ITHACA retweeted
A strong medical guideline is built when all voices are heard. Clinicians, researchers, HCPs, and patient representatives working together. Collaboration like this strengthens trust, improves outcomes, and sets a meaningful standard for future healthcare decisions. Check it out.
ERN-ITHACA retweeted
Yesterday was the first day of the 35th Eurodysmorpho conference in Vilnius. A beautiful morning workshop on Bayesian risk calculation was held by Emilia Bijlsma, a session strongly encouraged by @eshg_young and @ERNIthaca
ERN-ITHACA retweeted
🌟Save the date – 2nd International Conference on Clinical Research Networks for Rare Diseases🌟
💡“Mobilising the Global Rare Disease Clinical Research Ecosystem”
🗓️9-10 December 2025
🌍Co-organized by @ERDERA_org, RDI & IRDiRC
📩Register now: forms.office.com/pages/respo…
ERN-ITHACA retweeted
Nominations are open for the Leena Peltonen Prize (€10,000).
candidates: outstanding young researchers, Early career stage, no age or graduation limit
Awardee will give the Leena Peltonen Lecture at #eshg2026 in Gothenburg.
📅 Deadline: 31 Oct 2025
🔗 buff.ly/PoZKEyB
ERN-ITHACA retweeted
Outstanding rare disease care goes beyond treatment — it embraces the whole person and their support system. Help us spotlight the champions of holistic care in the rare disease community!
Submit your nominations for the #EURORDISAwards2026! 👇
🌟 go.eurordis.org/Nominate
ALT Three formally dressed individuals from RareResourceNet stand at a podium during the 2025 Black Pearl Awards giving an acceptance speech with purple lighting and a star-themed backdrop.
ERN-ITHACA retweeted
Met with @eurordis to discuss how we can accelerate innovation and deliver new treatments faster to all Europeans living with rare diseases. Moving forward decisively on the #BiotechAct, #ERNs, and #CMA will be key to making this a reality. #RareDiseases
ERN-ITHACA retweeted
In the latest episode of #EurordisRareOnAir, @TomaszGrybek shares his journey across two continents for a treatment for his son and how this led him to advocate for patient involvement in medicines regulation.
👉 Tomasz & Boris’s story: go.eurordis.org/RareOnAir
ALT Tomasz, his partner, and their two children (Boris and his younger daughter), sit on a beach together, smiling and laughing.
ERN-ITHACA retweeted
My #TEDx talk about #rarediseases and #undiagnoseddiseases.
I truly belive that by raising public and healthcare awareness about RDs, by supporting treatment and of course by global collaboration we can save lives of individuals with RARE DISEASES!
youtu.be/CvQIUZEvfpA?si=sGSq…
ERN-ITHACA retweeted
Make your voice heard!🗣️ #ERDERA has launched a survey to explore how #RareDisease patients can contribute to EU-funded research.
🔐 Confidential & created with patients
🔗 Take the survey: shorturl.at/ePVuL (open until mid-July)
📄 More: shorturl.at/c03db @eurordis
ERN-ITHACA retweeted
📣 ERDERA is happy to announce a new facilitation period for the MOOC: “Diagnosing Rare Diseases: From the Clinic to Research and Back”!
📅 12 May – 4 July 👉 Get expert support, ask questions & boost your knowledge in #RareDiseases 🔗 More at loom.ly/88Of0Ps
ERN-ITHACA retweeted
@euro_nmd, @ERN_RND, @Metab_ERN, @ERNIthaca, and EpiCARE will be present at the 2025 EPNS Munich Congress from July 8–12. Visit us at the joint booth at Intercongress GmbH!
ERN-ITHACA retweeted
🧬Submit your abstract for the 2025 Eurodysmorpho in Vilnius 16th-19th Sept 2025🗓️The new deadline for abstract submission is Friday 6th June 2025 ⏰(tinyurl.com/ytk74apt) Registration fee 30€. Presentation of a clinical case necessary to participate
@eshg_young @ERNIthaca
5 days left to submit your abstract for EuroDysmorpho! This workshop a great opportunity to showcase your dysmorpho cases, receive feedback, and connect with peers in a collegial atmosphere. Don't miss out, especially if you're a young geneticist!
ern-ithaca.eu/events-news/eu…
Our turn to present our network to the Board of Members States and to show how impactful ERNs are!
Next step is heading to Milan for the @eshgsociety Congress🧬where we'll be sharing a booth with @euro_nmd, ERN EYEs and Genturis. See you there!
ERN-ITHACA retweeted
📣 ERDERA is happy to announce a new facilitation period for the MOOC: “Diagnosing Rare Diseases: From the Clinic to Research and Back”! 📅 From 12 May – 4 July, get expert support, ask questions & boost your knowledge in #RareDiseases 🔗 More at loom.ly/88Of0Ps
ERN-ITHACA retweeted
🚨 We're hiring at #ERDERA! Join us to make a difference in the rare disease field. We're looking for:
🟣 Office Manager (Bilingual)
🟣 Senior Policy and Liaison Manager
Apply now 👉 loom.ly/zyG-yz0
📣 Spread the word and help us find the right talent! #Jobs #RareDiseases
🧬Abstract submission for EuroDysmorpho 2025 is available on our website until may 31st!
EuroDysmorpho is a 30+ year meeting open to any presentation in the field of human development.
🗓️17-20 Sept. 2025
📍Vilnius, Lithuania
To know more: ern-ithaca.eu/events-news/eu…
Don't miss out our MOOC on #RareDiseases diagnosis !
🎯Public: primarily medical students and Phd but also ePAG, paramedics - anyone interested
🚨 May 12 - July 4, a new facilitation period where mentors will be available to answers students questions
futurelearn.com/courses/rare…
