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
-
November 10, 2023
Phenotypic characterization of a WBP11-related pseudo-VATER syndome
-
October 17, 2023
Coffin-Lowry syndrome in female patients: neurodevelopmental and malformative phenotype
-
October 11, 2023
GABPB1 gene in intellectual disability
-
October 9, 2023
Neurodevelopmental phenotypes associated to HSF2 deleterious variation
-
October 6, 2023
Further clinical and genetic characterization of the KDM2B-related disorder
-
September 28, 2023
Expanding the spectrum of the BCAS3-related disorder
-
September 26, 2023
Further clinical and imaging characterisation of ZC4H2 related disorder
-
September 21, 2023
Clinical features of SIGMAR1-related disorder
-
September 20, 2023
Biallelic variants in ACER3 cause infantile and childhood-onset neurodegeneration
-
September 20, 2023
Mitochondrial Complex I deficiency associated with biallelic NDUFA13 variants lead to Leigh syndrome