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
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March 11, 2022
Clinical and molecular characterization of a novel AXTN1-related neurodevelopmental syndrome
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February 16, 2022
Expanding the phenotypic spectrum of the ZNF292
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February 7, 2022
SCA2 in children
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February 6, 2022
Functional studies of variants in RBM10
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February 5, 2022
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant
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November 1, 2021
Clinical and functional characterization of GRIA-related disorders: translating genetic diagnostics into personalized treatment
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October 25, 2021
Biallelic variants in BUD23 (WBSCR22) and TRMT112
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October 18, 2021
SMARCC2-related developmental delay, genotype-phenotype correlations
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October 7, 2021
Biallelic mutations of ERLIN1
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October 4, 2021
Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants