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
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February 19, 2025
Deep phenotyping and natural history of less characterised dopamine synthesis disorders
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February 19, 2025
PI4K2A related disorders
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February 11, 2025
Prenatal presentation of an RMRP-related disorder
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February 11, 2025
CCDC78-related disorders: defining genotype-phenotype correlation
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February 11, 2025
Understanding CWF19L1-related disorders
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February 11, 2025
Understanding AP1S2-related disorders
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January 24, 2025
A cohort of patients with Acrodysostosis: Clinical and molecular characterization with Genotype-phenotype correlation
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January 20, 2025
Better understanding of RELN monoallelic variants role in neurodevelopmental disorders
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January 17, 2025
Investigating the pre- and postnatal phenotypic spectrum and prognosis of ARCN1-related disorder
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January 16, 2025
Are bi-allelic inactivating variants of B4GALT5 responsible for a novel congenital disorder of glycosylation?