Latest News
-
Free Online Course on ORPHACodes for clinicians
Oslo University Hospital (OUS) launched a free e-learning course on ORPHAcodes in both Norwegian and English, marking an important step in sharing expertise on rare disorders nationally and internationally In this course, you will learn what ORPHAcodes are, the basics about the Orphanet classifications of rare diseases and the advantages of using ORPHAcodes. The target […]
-
Registration for the 2025 Curating the Clinical Genome conference is now open!
Registration for the 2025 Curating the Clinical Genome conference is now open! The 9th Curating the Clinical Genome conference is an event organised by Wellcome Connecting Science, and designed to unite the international clinical genomics and biodata communities. This Conference will foster discussions on best practices for the clinical use of genomic data, including variant interpretation, clinical utility, […]
-
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, […]
Open Calls
-
January 24, 2025
A cohort of patients with Acrodysostosis: Clinical and molecular characterization with Genotype-phenotype correlation
-
January 20, 2025
Better understanding of RELN monoallelic variants role in neurodevelopmental disorders
-
January 17, 2025
Investigating the pre- and postnatal phenotypic spectrum and prognosis of ARCN1-related disorder
-
January 16, 2025
Are bi-allelic inactivating variants of B4GALT5 responsible for a novel congenital disorder of glycosylation?