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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October 2, 2025
Characterizing ECHS1-Related Disorder, with particular interest in its Movement Disorder aspects (bi-allelic variants in ECHS1)
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September 26, 2025
Further delineation of the genotype-phenotype correlation of FRMD5-related disorders
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September 17, 2025
Clinical phenotypes and natural history of patients carrying a CASK gene variant
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September 17, 2025
Expanding the phenotypic and genotypic spectrum of TIMES syndrome, a LRRC8C-related disorder
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September 16, 2025
Expanding the phenotypic and genotypic spectrum of 12p11 deletion
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July 10, 2025
ZMYND11-related disorder: clinical phenotype and DNA methylation profiling
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July 7, 2025
ZNF699-related syndrome: symptoms, mechanisms, and episignature: an extended cohort collection
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July 7, 2025
The genetic and clinical spectrum of the LINS1-related neurodevelopmental disorder
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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