Calls for Collaboration
To promote collaboration between researchers, the ERN-ITHACA Research Workgroup has created this virtual plaform of calls for collaborative clinical research on developmental disorders.
These calls typically aim to rapidly build up consistent clinical series for rare monogenic disorders, in order to better delineate the clinical spectrum and natural history of recently identified entities in the field of ITHACA. The calls will be disseminated to the mailing list of ITHACA with regular reminders, and posted below.
ITHACA Team will follow up the success of the call during the year that follows its publication. Any publication issued from this call should acknowledge ITHACA. Consult this page to see how to aknowledge ERN-ITHACA in your publication
Download here the template to submit your call by email to the coordination team
If you would like to receive our next calls for collaboration as well as regular recaps of our latest calls, please subscribe to the ERN-ITHACA Newsletter
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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
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February 12, 2026
Deep phenotyping and natural history of ACBD5-related disorder
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February 2, 2026
Characterising the clinical spectrum and biomarker profiles in OGT-CDG
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January 22, 2026
Deep pheno-genotyping and natural history of autosomal dominant NPTX1-related disorder
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January 21, 2026
Epigenomic and phenotypic characterization of ZBTB7A syndrome
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January 21, 2026
Autosomal Recessive FERRY3-related neurodevelopmental disorder with autism
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January 20, 2026
Clinical and genetic delineation of recessive FAM177A1-related neurodevelopmental disorder
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January 13, 2026
Expanding the Clinical and Genetic Spectrum of WWOX: Call for Collaborative Cases
