Latest News
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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 […]
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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 […]
Open Calls
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September 2, 2026
Deep phenotyping and natural history of DHX9-related disorder
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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
