News
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Abstract Submission is now OPEN for the 27th SSBP Research Symposium4th-6th September 2025Amsterdam,...
The SSBP is delighted to advise that Abstract Submission is now OPEN for our 27th SSBP International Research Symposium in Amsterdam, the Netherlands, with the theme “Towards Personalised Care for Rare Genetic Disorders”. The Conference will be held 4-6th September 2025, with the Educational Day on the 4th September and the Research Symposium 5-6th September […]
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EuroNDD 2026: save the date!
We are excited to announce the third edition of the EuroNDD meeting, the first European workshop for a multidisciplinary view on rare genetic neurodevelopmental disorders, organised by the ERN-ITHACA! Building on the success of previous editions, next year’s meeting will feature cutting-edge research presentations, panel discussions, and interactive sessions designed to encourage knowledge-sharing and interdisciplinary cooperation. […]
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2025 call for new ePAGs application now open!
European Patient Advocacy Groups (ePAGs) are essentiels to ERNs. Their mission is to be the voice of patients and their families in all the different projects carried out by ITHACA. Within our network, ePAGs and specialists, whether doctors or researchers, work hand in hand towards the same goal: improving the lives of those with rare […]
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First Global and Fifth International Symposium Rare Disease Day 2025 – 8 March...
On behalf of the organizers, we are pleased to invite you to participate in the First Global and Fifth International Symposium Rare Diseases Day 2025 „ More than you can imagine – more than you can dream of!” organized on the occasion of the Rare Disease Day by Regional Specialized Children’s Hospital in Olsztyn and […]
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EC publication of a booklet on ERNs success stories
The European Commission has just published a special ERN booklet to promote European Reference Networks. This document provides an overview of the 24 networks and showcase their achievements into the rare diseases field. For its writing, each ERN was asked to share three success stories to show how our networks concretly and conclusively impact patient […]
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New clinical guidelines for the diagnosis and management of spinal dysraphism in children...
We are excited to announce the release of the new clinical guidelines for the diagnosis and management of spinal dysraphism in children and adolescents, with a strong focus on urological health! 🩺💧 These groundbreaking guidelines address key challenges in the care of children with spinal dysraphism, ensuring a holistic approach to: ✅ Early identification of […]
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Program of the 15th Annual Skeletal Dysplasia Course now out!
This Course is intended to provide an introduction to the basic clinical and radiographic diagnostics and clinical management of skeletal dysplasias. Preference will be given to pediatricians, clinical geneticists and radiologists planning to develop a clinical diagnostic activity in the field of genetic skeletal diseases. The number of participants is limited to 20. The official […]
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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 […]
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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, […]
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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 […]