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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December 12, 2025
Characterization of the clinical phenotype of the 2q31.2 – 2q32.3 deletion syndrome – Call for collaboration
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December 9, 2025
Call for patient: Clinical phenotypes and natural history of patients carrying a MAGEL2 gene variant
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December 8, 2025
Heterozygous de novo missense variants in PRKCE cause a neurodevelopmental disorder associated with a progeroid phenotype and congenital heart defects
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December 5, 2025
Investigating the phenotypic and genotypic spectrum of SEC23A-related disorder
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December 1, 2025
FBXW7-MeTRI
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November 28, 2025
NAA15-Associated Disorder Beyond Childhood: Clinical Insights from Adult Patients
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November 26, 2025
Comprehensive genotypic and phenotypic characterization of NAV2 related disorder
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November 21, 2025
Biallelic variants in CERS1 associated with Progressive Myoclonic Epilepsy type 8 (EPM8)
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November 17, 2025
Further clinical and molecular characterisation of individuals with biallelic PRRT2 variants
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November 17, 2025
Clinical, molecular and epigenetic exploration of Rahman Syndrome
