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 16, 2025
Are bi-allelic inactivating variants of B4GALT5 responsible for a novel congenital disorder of glycosylation?
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January 13, 2025
Further clinical and genetic delineation of autosomal recessive NTNG2-associated neurodevelopmental disorder
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January 13, 2025
Autoimmune diseases in RASopathies – Associations and possible biomarkers
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January 9, 2025
Fetal segmental/focal overgrowth related to variants in the PI3K/AKT/MTOR pathway
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January 9, 2025
Understanding PIG´opathies (GPI-anchoring disorders of glycosylation)
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January 6, 2025
Understanding KCNH1-related disorders: translating genetic diagnostics into personalized treatment
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January 6, 2025
Prenatal and post natal phenotype of bi-allelic loss-of-function KIF21A alterations.
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January 2, 2025
Delineation of adult phenotype of Cornelia de Lange syndrome patients
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January 2, 2025
Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by monoallelic RHEB pathogenic variants
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December 16, 2024
Patients with homozygous or compound heterozygous variants identified in the IRS-1 gene