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
-
March 2, 2023
Delineating the clinical and molecular spectrum of METTL5 recessive disorder
-
March 2, 2023
Clinical and genetic delineation of autosomal dominant and recessive forms of ACTL6B-related disorders
-
March 1, 2023
Phenotype of individuals with bi-allelic variants in FRRS1L
-
February 7, 2023
Mild forms of tubulinopathies
-
January 27, 2023
XRCC4-related Microcephalic Dwarfism
-
January 19, 2023
Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by mono- and biallelic KDM5A pathogenic variants
-
January 17, 2023
Delineating the phenotype associated with 5q31 duplications involving PURA
-
January 10, 2023
Menke-Hennekam syndrome
-
November 23, 2022
Clinical and molecular description of Townes Brocks
-
October 26, 2022
Genotype-phenotype characterization of YWHAG-related disorders