ERN-ITHACA (@ernithaca) 's Twitter Profile
ERN-ITHACA

@ernithaca

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

ID: 909768231082250240

linkhttp://ern-ithaca.eu calendar_today18-09-2017 13:17:03

1,1K Tweet

1,1K Followers

371 Following

EURORDIS-Rare Diseases Europe (@eurordis) 's Twitter Profile Photo

In a recent episode of “10 Minutes With”, Victoria Hedley NCL_RareDisease, highlighted the importance of integrating ERNs into national healthcare systems. JARDIN Joint Action is a 3-year endeavour to do just that! 🤔 But what exactly is JARDIN?👇 Learn more: go.eurordis.org/10MW

ChristianRadmayr (@radmayr) 's Twitter Profile Photo

Proud to present our new #guidelines on #spinabifida mgmt in children and adolescents at #EAU25 on behalf of all involved in the development process: European Association of Urology (EAU) ESPU ERN eUROGEN ERN-ITHACA IFSBH. A truly collaborative endeavor. This will hopefully set a new standard of care.

Proud to present our new #guidelines on #spinabifida mgmt in children and adolescents at #EAU25 on behalf of all involved in the development process: <a href="/Uroweb/">European Association of Urology (EAU)</a> <a href="/ESPUorg/">ESPU</a> <a href="/ERN_eUROGEN/">ERN eUROGEN</a> <a href="/ERNIthaca/">ERN-ITHACA</a> <a href="/ifsbh/">IFSBH</a>. A truly collaborative endeavor. This will hopefully set a new standard of care.
ERN-ITHACA (@ernithaca) 's Twitter Profile Photo

📢We're thrilled to announce the 3rd edition of our EuroNDD meeting! We offer this unique workshop to serve as an important forum for researchers, clinicians, and patient advocates to connect, exchange ideas, and drive progress in the field of rare NDDs. Spread the word! #EuroNDD

📢We're thrilled to announce the 3rd edition of our EuroNDD meeting!
We offer this unique workshop to serve as an important forum for researchers, clinicians, and patient advocates to connect, exchange ideas, and drive progress in the field of rare NDDs. Spread the word! #EuroNDD
Wellcome Connecting Science Learning and Training (@eventswcs) 's Twitter Profile Photo

The abstract deadline for Curating the Clinical Genome is approaching! #CCG2025 Submit by 15 April⏰ Present your research to leaders working in the clinical #genomics and #biodata communities, and build your professional profile.🧬 📅11 - 13 June 📎 bit.ly/4fb77QI

The abstract deadline for Curating the Clinical Genome is approaching! #CCG2025

Submit by 15 April⏰

Present your research to leaders working in the clinical #genomics and #biodata communities, and build your professional profile.🧬

📅11 - 13 June
📎 bit.ly/4fb77QI
ERDERA (@erdera_org) 's Twitter Profile Photo

How can knowledge graphs inform us on the complex networks involved in rare diseases? 🤔 Join the #ERDERA Rare Disease Maps Workshop. 👉 📅 6–7 May | 15:00–17:00 CEST 🔗 Register day 1: loom.ly/FbDXOYM 🔗 Register day 2: loom.ly/6g90KSk

How can knowledge graphs inform us on the complex networks involved in rare diseases? 🤔 Join the #ERDERA Rare Disease Maps Workshop. 👉 
📅 6–7 May | 15:00–17:00 CEST
🔗 Register day 1: loom.ly/FbDXOYM
🔗 Register day 2: loom.ly/6g90KSk
Siddharth Banka (@smbanka) 's Twitter Profile Photo

First organised by Prof. Dian Donnai in 1984, the MDC is now a leading biennial international event for experts in 🧬 #Dysmorphology #CongenitalMalformations #NeurodevelopmentalDisorders #GenomicMedicine #RareConditions Looking forward to welcoming friends from around the 🌍

First organised by Prof. Dian Donnai in 1984, the MDC is now a leading  biennial international event for experts in 🧬 #Dysmorphology #CongenitalMalformations
#NeurodevelopmentalDisorders
#GenomicMedicine #RareConditions
Looking forward to welcoming friends from around the 🌍
Elfride De Baere (@elfridedebaere) 's Twitter Profile Photo

It's official! ✨Abstract submissions now open for #ASHG25 🧬 Share your latest research in human genetics and genomics on a world-class stage 🗓️ Deadline: June 9, 2025, at 5 PM U.S. ET 🔗 Submit here: lnkd.in/e3Sjqw2x #humangenetics #genomics #ASHG

It's official! ✨Abstract submissions now open for #ASHG25

🧬 Share your latest research in human genetics and genomics on a world-class stage
🗓️ Deadline: June 9, 2025, at 5 PM U.S. ET
🔗 Submit here: lnkd.in/e3Sjqw2x

#humangenetics
#genomics
#ASHG
ERN-ITHACA (@ernithaca) 's Twitter Profile Photo

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-g…

ERN-ITHACA (@ernithaca) 's Twitter Profile Photo

🧬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…

ERDERA (@erdera_org) 's Twitter Profile Photo

🚨 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

ERDERA (@erdera_org) 's Twitter Profile Photo

📣 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

📣 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 &amp; boost your knowledge in #RareDiseases 🔗 More at loom.ly/88Of0Ps
ERN-ITHACA (@ernithaca) 's Twitter Profile Photo

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 European Society of Human Genetics (ESHG) Congress🧬where we'll be sharing a booth with ern euro_nmd, ERN EYEs and Genturis. See you there!

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 <a href="/eshgsociety/">European Society of Human Genetics (ESHG)</a>  Congress🧬where we'll be sharing a booth with <a href="/euro_nmd/">ern euro_nmd</a>, ERN EYEs and Genturis. See you there!
ERN-ITHACA (@ernithaca) 's Twitter Profile Photo

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…

eshg_young (@eshg_young) 's Twitter Profile Photo

🧬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 ERN-ITHACA

🧬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
<a href="/eshg_young/">eshg_young</a> <a href="/ERNIthaca/">ERN-ITHACA</a>
ERDERA (@erdera_org) 's Twitter Profile Photo

📣 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

📣 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 &amp; boost your knowledge in #RareDiseases 🔗 More at loom.ly/88Of0Ps
ERDERA (@erdera_org) 's Twitter Profile Photo

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-Rare Diseases Europe

Make your voice heard!🗣️ #ERDERA  has launched a survey to explore how #RareDisease patients can contribute to EU-funded research. 
🔐 Confidential &amp; created with patients
🔗 Take the survey: shorturl.at/ePVuL (open until mid-July)
📄 More: shorturl.at/c03db <a href="/eurordis/">EURORDIS-Rare Diseases Europe</a>
Tika Tkemaladze (@tikatkemaladze) 's Twitter Profile Photo

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…

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…