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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March 5, 2024
Clinical and functional studies of SNUPN-related disorders
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March 5, 2024
Clinical, molecular and functional characterization of MSMO1 deficiency
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March 1, 2024
Characterisation of patients with de novo variants in RBBP4 gene: description of a new NuRDopathy
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March 1, 2024
Somatic mutations and tissue methylation pattern on patients with neural tube defects
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February 27, 2024
New variants of ACVRL1 in Galen aneuvrysmal malformations
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February 12, 2024
Epilepsy and other neurological signs (hemiplegic migraine) in patients with ZTTK syndrome
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February 7, 2024
SNX14-related spinocerebellar ataxia
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February 7, 2024
HCFC1 associated phenotypes and X-inactivation pattern
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February 7, 2024
Biallelic missense variants in CSMD2 are associated with a neurodevelopmental disease and epilepsy
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February 7, 2024
Clinical characterization the spectrum associated with bi-allelic variants in ACACA gene and biochemical evaluation