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
-
June 20, 2023
Further expansion of phenotypic spectrum of individuals with bi-allelic variants in CCDC82
-
June 13, 2023
Further delineation of SCAF4-associated NDDs
-
June 13, 2023
Fetal form of Tonne-Kalscheuer syndrome (TOKAS) associated with variants in RLIM
-
June 13, 2023
Refinement of the clinical and radiological phenotype of patients carrying bi allelic pathogenic MED23 variants
-
May 22, 2023
LRRC8A de novo variant
-
May 17, 2023
SETD5 prenatal phenotype: a review
-
May 17, 2023
Further expansion of the MAP4K4-related phenotype
-
May 12, 2023
Expanding the phenotype of PBX1 syndrome
-
May 12, 2023
Urinary glucotetrasaccharides elevation in IHPRF1 patients due to homozygous or compound heterozygous deleterious variants in NALCN gene
-
May 12, 2023
Functional testing of UBE2O variants