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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March 21, 2025
Characterization of overgrowth syndromes dues to pathogenic variants in genes NPR2, NPR3, FGFR3 or chromosomal translocations with breakpoint in 2q37.1
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March 17, 2025
Defining the Phenotypic Spectrum and Developmental Trajectories in Individuals with NPAS3 Variants
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March 14, 2025
Exploring the phenotypic spectrum of patients with germline RRAGC variants
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March 5, 2025
Further clinical and genetic delineation of autosomal recessive FAR1-associated neurodevelopmental disorder
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March 5, 2025
Clinical, molecular and functional characterisation of the KLC4-related disorder
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February 25, 2025
2p16.1p15 microdeletion
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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