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.
Download here the template to submit your call by email to the coordination team
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November 28, 2023
Deep phenotyping and natural history of WARS2-related disorder (particularly dystonia-parkinsonism)
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November 27, 2023
Characterization of NFUFA9-related mitochondrialdisorder
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November 23, 2023
INTS11-associated neurodevelopmental disorder
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November 22, 2023
Clinical, molecular and functional characterization of CLCN3-associated neurodevelopmental disorder
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November 16, 2023
Delineation of phenotypes and genotypes related to DPYSL genes family
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November 10, 2023
Phenotypic characterization of a WBP11-related pseudo-VATER syndome
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October 17, 2023
Coffin-Lowry syndrome in female patients: neurodevelopmental and malformative phenotype
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October 11, 2023
GABPB1 gene in intellectual disability
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October 9, 2023
Neurodevelopmental phenotypes associated to HSF2 deleterious variation
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October 6, 2023
Further clinical and genetic characterization of the KDM2B-related disorder