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. Consult this page to see how to aknowledge ERN-ITHACA in your publication
Download here the template to submit your call by email to the coordination team
If you would like to receive our next calls for collaboration as well as regular recaps of our latest calls, please subscribe to the ERN-ITHACA Newsletter
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August 21, 2026
Deep phenotyping of FLVCR1-related neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (NEDMISH) and retinopathy-sensory neuropathy syndrome (RETSNS)
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August 19, 2026
Expanding the Clinical and Functional Spectrum of COA8-Related Mitochondrial Disorders
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August 18, 2026
Delineation of RUNX1T1-Related Disorder with a Recognizable Facial Gestalt
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August 17, 2026
Characterising recessive AIMP2-Associated Hypomyelinating Leukodystrophy
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August 16, 2026
Clinical and Molecular Characterization of CTR9-related Neurodevelopmental Disorder
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August 15, 2026
PSAT1-related disorders: an international clinical cohort
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August 14, 2026
Expanding the Clinical and Molecular Spectrum of NSRP1-Related Neurodevelopmental Disorder (NEDSSBA)
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August 13, 2026
Mosaic RASopathies — Syndromic Forms
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August 13, 2026
Defining the BCAS3 microdeletion disorder
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August 6, 2026
Comparison of Phenotypic and Genotypic Findings in Patients with Pathogenic, Likely Pathogenic, or Clinically Significant TBL1XR1 Variants
