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 4, 2023
Clinical, genetic and neuroimaging features of biallelic NOTCH3 disorders
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June 28, 2023
Further delineation of RPL26-associated malformations
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June 28, 2023
TMEM53-associated phenotype
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June 20, 2023
MTOR delineation and episignature
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June 20, 2023
SETD1A delineation and episignature
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June 20, 2023
Further expansion of phenotypic spectrum of individuals with bi-allelic variants in CCDC82
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June 13, 2023
Further delineation of SCAF4-associated NDDs
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June 13, 2023
Fetal form of Tonne-Kalscheuer syndrome (TOKAS) associated with variants in RLIM
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June 13, 2023
Refinement of the clinical and radiological phenotype of patients carrying bi allelic pathogenic MED23 variants
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May 22, 2023
LRRC8A de novo variant