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 22, 2024
Clinical characterisation of individuals with pathogenic variants in WDR13 gene
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January 19, 2024
LYST-related Chediak-Higashi-Syndrome
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January 18, 2024
Expanding the clinical and molecular spectrum of DPF2-associated Coffin-Siris syndrome type 7
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January 16, 2024
DNA methylation profile of Mowat-Wilson syndrome: a study on individuals with atypical presentation or uncertain genotypic correlation
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January 15, 2024
WDR45-related neurodegeneration with brain iron accumulation
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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