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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January 8, 2024
Deep phenotyping and natural history of AFG2A (SPATA5) and AFG2B (SPATA5L1) disorders
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January 5, 2024
PTPN11-related SHORT syndrome
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January 3, 2024
EPG5-related disorders
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January 2, 2024
Neurocognitive profile and correlations in patients with primary microcephaly and ophtalmological impairment due to KIF11, KIF14, PLK4, TUBGCP4, TUBGCP6 or RBBP8
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November 29, 2023
Electroclinical phenotypes associated with PIGU gene
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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