Upcoming Events
Latest News
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ITHACA Research Workshop
The ITHACA Research Workgroup is pleased to announce its first 2026 workshop, dedicated to open collaborative calls, that Ill be held on May 12, from 2:00 to 5:00 PM. This session will provide an opportunity to present and discuss ongoing research projects and foster collaboration. Participants who wish to present their research (10–15 minutes) are […]
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International Symposium Rare Diseases Day 2026 “Your hardest times will become your strength...
We are delighted to announce the Second Global and Sixth International Symposium Rare Disease Day 2026, held in recognition of Rare Disease Day and Sleep Awareness Month. The event is organized by the Regional Specialized Children’s Hospital in Olsztyn and the University of Warmia and Mazury in Olsztyn, under the auspices of EURORDIS (rarediseaseday.org) and […]
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ERN ITHACA Patient Avisory Board elected its 2026 new steering committee!
Last February 4, all the ERN ITHACA patient associations came togeter to elect the 2026-2027 ITHACA Steering Committee. Thank you and congratulations to Dorica, Tanja, Sue and Daniele on their re-election, and a warm welcome to Zhana, Sergios and Rui as they join the Steering Committee! We look forward to the work ahead and to […]
Open Calls
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February 25, 2026
PPP3R1 variants and phenotype
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February 16, 2026
Phenotype and Genotype associated to RAB39B variant
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February 16, 2026
Clinical Spectrum and Genotype-Phenotype Correlations in RIT1-Noonan Syndrome
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February 13, 2026
New variations in the ATP2B2 gene: genotype-phenotype correlation in deafness, neurodevelopmental disorders, and epilepsy