Latest News
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EuroNDD 2026: save the date!
We are excited to announce the third edition of the EuroNDD meeting, the first European workshop for a multidisciplinary view on rare genetic neurodevelopmental disorders, organised by the ERN-ITHACA! Building on the success of previous editions, next year’s meeting will feature cutting-edge research presentations, panel discussions, and interactive sessions designed to encourage knowledge-sharing and interdisciplinary cooperation. […]
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2025 call for ePAGs application now open!
European Patient Advocacy Groups (ePAGs) are essentiels to ERNs. Their mission is to be the voice of patients and their families in all the different projects carried out by ITHACA. Within our network, ePAGs and specialists, whether doctors or researchers, work hand in hand towards the same goal: improving the lives of those with rare […]
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First Global and Fifth International Symposium Rare Disease Day 2025 – 8 March...
On behalf of the organizers, we are pleased to invite you to participate in the First Global and Fifth International Symposium Rare Diseases Day 2025 „ More than you can imagine – more than you can dream of!” organized on the occasion of the Rare Disease Day by Regional Specialized Children’s Hospital in Olsztyn and […]
Open Calls
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April 1, 2025
VPS35L biallelic variants in Ritscher-Schinzel syndrome call for patients
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April 1, 2025
Deep phenotyping and natural history of autosomalrecessive PRRT2-related disorder (bi-allelic variants in PRRT2)
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March 27, 2025
Defining the Phenotypic Spectrum and Developmental Trajectories in Individuals with LMBRD2 Variants
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March 21, 2025
Characterization of overgrowth syndromes dues to pathogenic variants in genes NPR2, NPR3, FGFR3 or chromosomal translocations with breakpoint in 2q37.1