Latest News
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10th International Meeting on Rare Disorders of the RAS-MAPK Pathway
The 10th International Meeting on Rare Disorders of the RAS-MAPK Pathway will take place in Rome on 12–13 October 2026. Registration and abstract submission are open now via the meeting website:https://ern-ithaca.eu/events/rasopathie/ Main topics: As in the previous meetings, the organisers will ask selected experts to present their research, but we also welcome the submission of abstracts on your research topic […]
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Second Online ITHACA Clinic
We are pleased to invite you to the second online ITHACA Clinic, scheduled for 3rd July from 12:00 to 13:30 CET on the CPMS 2.0 platform, chaired by Adela Chirita-Emandi and Sofia Douzgou Houge.The ITHACA Clinic is a multidisciplinary forum bringing together clinicians, molecular geneticists, and researchers to provide expert recommendations on challenging cases. Beyond […]
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ERDERA Webinar: “The ERDERA Diagnostic Research Workstream – An Overview”
ERDERA invites the ERN community to an introductory webinar on “The ERDERA Diagnostic Research Workstream – An Overview”, taking place on Thursday, 28 May 2026, from 13:00 to 14:00 CEST. Presented by Holm Graessner, this opening session will explain what the ERDERA Diagnostic Research Workstream does, how it is organised, and how clinicians, researchers and […]
Open Calls
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July 3, 2026
International registry of CACNA1A variants for genetic modifiers identification
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June 30, 2026
ERDERA Clinical Trial Call and MRSEI : Identification of Clinical Centres and Patient Cohorts for ASO Trial in Rare Neurodevelopmental Disorders
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June 29, 2026
Biallelic ERI2 variants: an international cohort for a candidate neurodevelopmental disorder
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June 29, 2026
Deep phenotyping and natural history of ACOX1-related disorder
