ERN-ITHACA

European Reference Network on congenital malformations and rare intellectual disability (ERN-ITHACA).

[Brut FR @brutofficiel]

"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.

[ChristianRadmayr @radmayr]

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.

[Silvia Kalantari @KalantariSilvia]

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

[IRDiRC @irdirc]

🌟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: https://t.co/EWDLvRpPar

[European Society of Human Genetics (ESHG) @eshgsociety]

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
🔗 https://t.co/jgi0gJqZLc

[EURORDIS-Rare Diseases Europe @eurordis]

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! 👇
🌟 https://t.co/PwHeNlhNnG

[Oliver Varhelyi @OliverVarhelyi]

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

[EURORDIS-Rare Diseases Europe @eurordis]

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: https://t.co/Hppr9lOynL

[Tika Tkemaladze @TikaTkemaladze]

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!
https://t.co/zl0pIlmLBo

[ERDERA @ERDERA_org]

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: https://t.co/g32SAtlhRD (open until mid-July)
📄 More: https://t.co/V3B80kzFUg @eurordis

[ERDERA @ERDERA_org]

📣 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 https://t.co/VSxkddTSn3

[EpiCARE @EpiCARE_ERN]

@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!

[eshg_young @eshg_young]

🧬Submit your abstract for the 2025 Eurodysmorpho in Vilnius 16th-19th Sept 2025🗓️The new deadline for abstract submission is Friday 6th June 2025 ⏰(https://t.co/gfi297uSzD) Registration fee 30€. Presentation of a clinical case necessary to participate
@eshg_young @ERNIthaca

[ERN-ITHACA @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!
https://t.co/PCDhi4ZzVp

[ERN-ITHACA @ERNIthaca]

We are here at the @eshgsociety 2025 in Milan! Join us in the booth 550! #ESHG #ERN

[ERN-ITHACA @ERNIthaca]

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!

[ERDERA @ERDERA_org]

📣 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 https://t.co/VSxkddTSn3

[ERDERA @ERDERA_org]

🚨 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 👉 https://t.co/k0qBD3eeSQ
📣 Spread the word and help us find the right talent! #Jobs #RareDiseases

[ERN-ITHACA @ERNIthaca]

🧬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: https://t.co/6pkT4as0fz

[ERN-ITHACA @ERNIthaca]

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
https://t.co/qo778cixsP