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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July 25, 2023
CARS2-associated neurodevelopmental disorder with epileptic encephalopathy and a complex movement disorder.
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July 21, 2023
Prenatal and postnatal phenotype spectrum for KIF4A variants
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July 21, 2023
BRAT1-associated neurodevelopmental disorder
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July 21, 2023
Clinical and genetic delineation of autosomal recessive UFSP2-related developmental and epileptic-dyskinetic encephalopathy
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July 10, 2023
ACBD6-associated neurodevelopmental syndrome with progressive complex movement disorders
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July 7, 2023
Pathogenic heterozygous variants of GSK3B
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July 6, 2023
Clinical and genetic delineation of recessive RBL2-related neurodevelopmental syndrome
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July 6, 2023
Refining phenotypes in females and males presenting with RNF113A-related X-linked trichothiodystrophy
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July 5, 2023
CHD3 related syndrome investigation and molecular description
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July 4, 2023
Clinical and genetic characterization of SLC9A1 and CHP1-related ataxia