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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November 19, 2024
Characterization of the clinical phenotype of the 8q12 microduplication syndrome
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November 19, 2024
Further delineation of the De Santo Shinawi Syndrome phenotype using a series of individuals carrying a pathogenic variant of the WAC gene
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November 19, 2024
ETF1 variants / neurodevelopment
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November 12, 2024
Delineating the clinical and molecular spectrum of FOXP4 syndrome
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November 12, 2024
Deep phenotyping of the neurodevelopmental syndrome associated with ZFHX3 loss of function variants
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November 4, 2024
Extra-renal manifestations of MAPKBP1-associated disease
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November 4, 2024
Delineating the phenotypic spectrum of maternal uniparental disomy of chromosome 20 (UPD(20)mat)
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November 4, 2024
Clinical, molecular and functional characterization of USP20 variants in protein-protein interacting domains
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November 4, 2024
Mowatt-Wilson fetal cohort (ZEB2)
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November 4, 2024
Phenotypic and genetic characterization, with emphasis on functional studies of G protein-coupled receptor pathway genes in patients with neurodevelopmental disorders