Latest News
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ERN-ITHACA Event
ERN-ITHACA In-Depth Webinar #19 Rho-GTPase in intellectual disability and neurodevelopmental disorders
This new ITHACA webinar will focus on elucidating neurodevelopmental disorders caused by deleterious variants in the human RAC1 and RAC3 genes, including intellectual disability, autism spectrum disorders and epilepsy. These genes encode proteins that are crucial for brain development by regulating cell signaling pathways involved in neuronal migration, differentiation and synaptic function. In this webinar, […]
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ERNs Evaluation Results Report: Kudos to ERNs!
Results of the evaluation of ERNs were just published by the European Commission. To write this report, 24 interviews with ERN coordination teams and ePAGs advocacies, as well as audits of almost 200 HCPs were conducted by a team of 179 independant evaluators. Additional information, suggestions and comments were also collected through online questionnaires sent […]
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Rare Genetic Conditions Photo Exhibition at the Santa Maria ITHACA Center: check out...
Last November 15th, the Service of Medical Genetics that belongs to Unidade Local de Saúde Santa Maria, in Lisbon, Portugal, celebrated its 25th anniversary. The celebration included a lecture given by guest speaker Prof. Sofia Douzgou Houge and the vernissage of a photography exhibition. This photography exhibition entitled “25 years, 25 faces – Rewriting the […]
Open Calls
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January 17, 2025
Investigating the pre- and postnatal phenotypic spectrum and prognosis of ARCN1-related disorder
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January 16, 2025
Are bi-allelic inactivating variants of B4GALT5 responsible for a novel congenital disorder of glycosylation?
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January 13, 2025
Further clinical and genetic delineation of autosomal recessive NTNG2-associated neurodevelopmental disorder
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January 13, 2025
Autoimmune diseases in RASopathies – Associations and possible biomarkers