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 31, 2026
Identification of SLC7A1 as a cause of recessive neurodevelopmental disorders
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August 28, 2026
Exploring the clinical heterogeneity and molecular variability of YWHAZ-related disorders
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August 27, 2026
Identification of RNPS1 as a cause of a dominant skeletal-neurodevelopmental malformation syndrome
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August 26, 2026
Expanding the phenotypic spectrum of CAMK2B-related disorder
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August 25, 2026
Defining the phenotypic spectrum of RAB1A-related disorders
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August 24, 2026
TRAPPC6A/TRAPPC6B neurodevelopmental disorders: functional and epigenomic investigation
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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
