Latest News
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Sign up now: Multidisciplinary Fetal Diagnostics Winter School 2026
The Winter School on Fetal Diagnosis aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case […]
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Online ITHACA Clinic – 23 Oct
The ITHACA Clinic is a multidisciplinary forum that brings together clinicians, molecular geneticists, and researchers on the CPMS platform to provide expert recommendations on challenging cases. Beyond a standard consultation, this is an opportunity to leverage the collective intelligence of our network to achieve significant medical impact. Date: 23 October | 15:00-16:30Venue: CPMS PlatformRegistration form: […]
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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 […]
Open Calls
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September 9, 2026
Expanding the phenotypic spectrum of biallelic GHSR variants
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September 7, 2026
Expanding the Phenotypic and Genotypic Spectrum of SALL2-Related Ocular Disorders
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September 4, 2026
PACS1-related disorder: diagnostic and management recommendations, core outcomes, and therapeutic trial readiness—an e-Delphi consensus
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September 2, 2026
Deep phenotyping and natural history of DHX9-related disorder
