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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Oktober 14, 2026
16p13.3 duplication-triplication involving ATP6V0C
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Oktober 13, 2026
Clinical trial in adults with distal arthrogryposis type 5 – PIEZO2 gain of function variants.
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Oktober 13, 2026
Genotype-Phenotype correlation in BUB1-related disorders, natural history study and development of therapies
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Oktober 13, 2026
Characterising the adult phenotype and natural history of Sotos syndrome
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September 9, 2026
Expanding the phenotypic spectrum of biallelic GHSR variants
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September 7, 2026
Expanding the Phenotypic and Genotypic Spectrum of SALL2-Related Ocular Disorders
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September 4, 2026
PACS1-related disorder: diagnostic and management recommendations, core outcomes, and therapeutic trial readiness—an e-Delphi consensus
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September 2, 2026
Deep phenotyping and natural history of DHX9-related disorder
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August 31, 2026
Identification of SLC7A1 as a cause of recessive neurodevelopmental disorders
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August 28, 2026
Exploring the clinical heterogeneity and molecular variability of YWHAZ-related disorders
