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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September 30, 2024
Wide Phenotypic and Allelic Continuum of STUB1-Related Disorders: Characterization of the Severe End of the Spectrum Exhibiting a Recessive Neurodevelopmental Syndrome
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September 25, 2024
Genotype-first analysis of SCN1A and SCN2A
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September 25, 2024
Genotype-first analysis of SCN3B
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September 25, 2024
Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency in Neurodevelopmental Disorder with Epilepsy
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September 25, 2024
RARB Natural History Study
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September 18, 2024
Clinical characterization of patients with a four-fold gain of the region 16p11.2
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September 18, 2024
ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy
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September 18, 2024
DYNC1H1–related disorders
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September 18, 2024
Adult phenotype of Wiedemann-Steiner syndrome (>15y)
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August 7, 2024
ATP6V0A1-variants in children or adults: epilepsy, neurodevelopmental and neurodegenerative phenotypes