Latest News
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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 […]
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EuroNDD : registration & abstact submission open!
We are excited to officially launch the registration and abstract submission for the third edition of the EuroNDD meeting, the first European workshop for a multidisciplinary view on rare genetic neurodevelopmental disorders! Building on the success of previous editions, next year’s meeting will feature research presentations, panel discussions, and interactive workshops designed to encourage knowledge-sharing […]
Open Calls
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October 2, 2025
Characterizing ECHS1-Related Disorder, with particular interest in its Movement Disorder aspects (bi-allelic variants in ECHS1)
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September 26, 2025
Further delineation of the genotype-phenotype correlation of FRMD5-related disorders
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September 17, 2025
Clinical phenotypes and natural history of patients carrying a CASK gene variant
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September 17, 2025
Expanding the phenotypic and genotypic spectrum of TIMES syndrome, a LRRC8C-related disorder