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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April 29, 2026
Clinical phenotype and underlying episignature in patients with EZH2/EED deletions
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April 24, 2026
YTHDF3-related neurodevelopmental disorder
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April 23, 2026
Epigenomic and phenotypic characterization of the MED25-related syndrome (also known as Basel-Vanagaite-Smirin- Yosef Syndrome)
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April 14, 2026
Deep pheno-genotyping and natural history of autosomal recessive DARS2-related mitochondrial disorder
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April 14, 2026
De novo DICER1 Variants Associated with a Developmental Delay Phenotype
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April 9, 2026
Toward a better understanding of the phenotypic spectrum associated with heterozygous SP9 variants
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April 1, 2026
Phenotypic spectrum in Mosaic Variegated Aneuploidy syndromes (MVAs)
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March 30, 2026
Exploring genotype-phenotype correlation in RARS2-related disease
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March 26, 2026
Variants in OGA/MGEA5 gene linked with intellectual disability and epilepsy
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March 25, 2026
Pheno-genotypic characterisation of UQCRQ-related mitochondrial disorder
