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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May 10, 2024
Clinical description and possible treatment of Warburg-Cinotti syndrome, caused by activating mutations of DDR
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May 7, 2024
Clinical phenotype and genotypic spectrum of MYMX-related Carey-Fineman-Ziter syndrome
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May 3, 2024
BCDS Natural History
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April 24, 2024
Clinical, EEG and genetic characterization of SETD5-related epilepsy
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April 22, 2024
CIZ1 neurodevelopmental disoders
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April 17, 2024
TBX1 associated phenotypes
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March 11, 2024
Clinical and genetic characterization of the MET-related Arthrogryposis – Call for collaboration
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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