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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June 27, 2025
Further description of the phenotypic spectrum of Diphthamide Deficiency Syndrome 2
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June 25, 2025
Further delineation of PPP2CA-related, HOUGE-JANSSENS SYNDROME 3
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June 16, 2025
VAMP2-related SNAREopathies: from mechanism to therapeutic approach
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June 16, 2025
Towards a better understanding of the clinical and molecularspectrum of familial Rubinstein-Taybi syndrome
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June 16, 2025
DSCAM monoallelic variants in Neurodevelopmental Disorders
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June 10, 2025
KAT6A Fetal Cohort – Arboleda-Tham Syndrome
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May 22, 2025
FEM1C-Related Disorders
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May 20, 2025
Protein losing enteropathy (PLE) in Myhre syndrome
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May 19, 2025
Understanding the clinical and molecular variability of SMARCA4-related disorder
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May 13, 2025
Exploring the clinical and molecular variability of RATARS