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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October 7, 2021
Biallelic mutations of ERLIN1
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October 4, 2021
Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants
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October 1, 2021
SPOP-related Neurodevelopmental Disorders
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September 27, 2021
Geleophysic and acromicric dysplasias: study of the natural history
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September 23, 2021
Consortium for treating Kosaki syndrome
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September 21, 2021
Long-term cardiological manifestations in patients with mutations in the SKI gene
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September 20, 2021
SF1 variants in neurodevelopmental disorders
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September 6, 2021
KDM4B gene: clinical phenotype and methylation signature
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August 30, 2021
Defining Myhre syndrome in Adulthood
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August 17, 2021
Mild phenotype of EEF1A2 variants