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 5, 2024
Clinical and molecular characterization of PAK1 missense variations
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August 5, 2024
RYR2-catecholaminergic polymorphic ventricular tachycardia (CPVT) and neurodevelopmental disorders
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July 9, 2024
Genetics of aventriculy
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June 19, 2024
SCNM1 and ciliopathies
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June 19, 2024
Biallelic variants in TM2D3
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June 19, 2024
Expanding the clinical categories of CHAMP1-related disorders
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June 19, 2024
GTF3C3-related neurodevelopmental disorders
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May 16, 2024
The ADNP-related disorder spectrum: expanding the neurophysiologic and epileptic phenotype
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May 15, 2024
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May 15, 2024
Ring chromosome 22 and risk for NF2-related tumours