Upcoming Events
Latest News
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Dysmorphology Summer 2026
We are pleased to announce the 2026 international “Dysmorphology Summer”, which will take place on August 20–22, 2026 in Palanga, Lithuania. This annual meeting has deep traditions of bringing together clinical geneticists, medical geneticists, neonatologists, and other specialists working with rare diseases and syndromology. Participants review challenging diagnostic dilemmas, and explore the latest advances in diagnostic and treatment possibilities in an open and friendly […]
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HLM4RARE : a new plan of action for rare diseases
In December 2025, HLM RARE 2025 brought together EU policymakers, ERNs, patient organisations, researchers and industry leaders in Brussels to advance a stronger European ecosystem for rare and complex diseases. A key milestone was the launch of the Declaration on a European Innovation and Care Ecosystem for Rare and Complex Diseases, a political commitment structured […]
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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 […]
Open Calls
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March 3, 2026
Call for patients with autosomal dominant STT3A-CDG: expanding the clinical spectrum
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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
