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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December 16, 2024
Patients with homozygous or compound heterozygous variants identified in the IRS-1 gene
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December 16, 2024
Verheij syndrome (PUF60) : fetal cohort
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December 16, 2024
Characterization of the clinical phenotype of the 9q34.11 microduplication syndrome
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December 16, 2024
Prenatal and postnatal phenotype spectrum for FTO variants