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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August 4, 2023
PPP1R12A phenotype precision
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August 3, 2023
Epigenomic and phenotypic characterization of DEGCAGS syndrome
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August 3, 2023
ZNF462-associated phenotype
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August 3, 2023
Delineating the UGP2 related epileptic encephalopathy
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August 2, 2023
Delineating the phenotype of the BICRA related disorder
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August 2, 2023
Delineating the clinical phenotype of the SETD1B disorder
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August 1, 2023
Delineating AMFR related hereditary spastic paraplegia: a way to therapy?
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August 1, 2023
Delineating the phenotype of the ZMYM2-related neurodevelopmental disorder
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August 1, 2023
Clinical and genetic description of GINS2 related syndrome
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July 31, 2023
Delineating the phenotypic spectrum of Kaya-Barakat-Masson syndrome caused by YIF1B