Upcoming Events
Latest News
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The Genetic Half-Hour – a two-year course of clinical genetics
Following the successful establishment of the seminar series with almost 500 participants from German-speaking countries, we are pleased to announce the international launch of the English edition of our course series: “Genetic Half-Hour – Comprehensive Course in Clinical Genetics.” This structured programme is designed as a two-year curriculum, based on the European specialist in human genetics and covering the […]
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Healthcare Transition guideline soon to be published!
We are very pleased to announce that the ITHACA guideline “Transition from children’s to adults’ healthcare for youth with (genetic) intellectual disabilities” has been accepted for publication in the Journal of Intellectual Disability Research. Developed by the Transition of Care consortium convened by the ERN-ITHACA Guideline Workgroup, this guideline represents an important step toward improving […]
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Virtual research Workshop on oct. 22: registration open!
We are pleased to invite you to the upcoming Research Workshop, organized by Marco tartaglia and Zeynep Tumer of the ERN-ITHACA Research Workgroup. This workshop will present 12 open calls for collaboration from the ERN and will discuss how to strengthen interactions and identify possible synergies. 🗓️ Date & Time: 22 October, 14:00-17:30📍 Location: Online […]
Open Calls
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December 5, 2025
Investigating the phenotypic and genotypic spectrum of SEC23A-related disorder
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December 1, 2025
FBXW7-MeTRI
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November 28, 2025
NAA15-Associated Disorder Beyond Childhood: Clinical Insights from Adult Patients
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November 26, 2025
Comprehensive genotypic and phenotypic characterization of NAV2 related disorder