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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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
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May 5, 2025
Deep phenotyping and natural history of NDUFV1-related mitochondrial disorder
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April 14, 2025
ASH1L-Related Disorder
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April 7, 2025
Discovery of a BRD4-Related Disorder Episignature
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April 7, 2025
Recruitment of patients with de novo KANSL1 missense variants
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April 1, 2025
VPS35L biallelic variants in Ritscher-Schinzel syndrome call for patients
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April 1, 2025
Deep phenotyping and natural history of autosomalrecessive PRRT2-related disorder (bi-allelic variants in PRRT2)