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 12, 2023
Urinary glucotetrasaccharides elevation in IHPRF1 patients due to homozygous or compound heterozygous deleterious variants in NALCN gene
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May 12, 2023
Functional testing of UBE2O variants
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May 12, 2023
Pathogenic variants in PUS7 are responsible for IDDABS but could also be related to Tsukahara syndrome
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May 12, 2023
Parent-reported functional abilities in patients with FOXP1 syndrome
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May 2, 2023
CEP76 bi-allelic variants
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May 2, 2023
Recessive variants in SLC19A1
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May 2, 2023
Further expansion of the ACTL6A-related phenotype
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April 27, 2023
Vitamin D and calcium metabolism in adults with Williams-Beuren syndrome
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April 27, 2023
Clinical characterization of gnathodiaphyseal dysplasia related to heterozygous mutation of ANO5 gene
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March 15, 2023
Expanding the phenotype of patients with bi-allelic variants in SCAPER