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 […]
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ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School – Save the date!
This year, the winter school will take place on December 4th, at the Imagine Institute in Paris. The winter school will also be followed by the SOFFOET Best of Meeting, on December 5th. This year, the program of the winter school will be focused on skeletal dysplasias. The winter school is open to 60 participants […]
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EPNS Congress 8-12 July 2025 – Save the date/abstracts welcome
Welcome to the 16th Congress of the European Paediatric Neurology Society (EPNS) where we classify our field into A for Acute, B for Brain, Health & Science and C for Chronic. We invite you to be part of this unique ABC format to learn, teach, meet, network and exchange ideas on an international stage. Learn more about the stimulating programme and SUBMIT your ABSTRACT (closes 15 January 2025): https://epns-congress.com/ Any […]
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Registrations to the 2025 European exam of genetics (ECMGG) now open!
The European Certificate in Medical Genetics and Genomics (ECMGG) is the geneticsexam at the European level, that ITHACA is a partner of. It is a joint development of the UEMS Section of Medical Genetics (UEMS-SMG) and the Branch of Medical Genetics and Genomics of the European Board of Medical Genetics (EBMG-BMGG), and has the support […]
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Launch of the European Rare Diseases Resarch Alliance (ERDERA)
The European Rare Diseases Research Alliance (ERDERA) has just kicked off this September, with an estimated budget of 380 million euros and the aim of improving the lives of 30 million rare disease patients in Europe and beyond. The European Rare Diseases Research Alliance (ERDERA) has been set up to build on the advancements made […]
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15th Annual Introductory Course on Skeletal Dysplasias: save the date!
15th Annual Introductory Course on Skeletal Dysplasias – June 30th to July 4th 2025 – Medical Genetics Unit AUSL IRCCS Arcispedale S Maria Nuova, Reggio Emilia, Italy Organizers: Sheila Unger, Andrea Superti-Furga, Livia Garavelli The Course is intended to provide an introduction to the basic clinical and radiographic diagnostics and clinical management of skeletal dysplasias. […]
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Bridging Gaps: ERN ITHACA and SATB2 Europe Visit the Center for Technologies of...
In a step towards fostering collaboration in the realm of rare diseases, the Center for Technologies of Gene and Cell Therapy (CTGCT), at the Kemijski Inštitut, welcomed on September 19, 2024 Anne Hugon, project manager for the European Reference Network ITHACA, and Erika Stariha, president and co-founder of SATB2 Europe. We tried to bring our expertise and […]
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Don’t miss the ERN ITHACA and its ERNs friends at the 15th European...
The 15thEuropean Epilepsy Congress organised by the International League Against Epilepsy (ILAE),will take place in Rome on September 7th-11th at the La Nuvola Convention Centre. It’s a pleasure to announce that ERN-ITHACA, along with the other 4 Neurological ERNs: EPICARE, ERN-RND, MetabERN and EURO-NMD, will have a booth at the congress. We’re excited to share […]
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International Symposium Rare Disease Day 2024
We have the pleasure to announce the International Symposium Rare Diseases Day 2024 „We are the 300 million – we are all fighters!”, organized on the occasion of the Rare Disease Day by Regional Specialized Children’s Hospital in Olsztyn and the University of Warmia and Mazury in Olsztyn under auspices of Eurocordis (rarediseaseday.org). The meeting will […]
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8th EPNS Research Meeting
With an aim to enhance research in Paediatric Neurology, this meeting organised by the European Paedriatric Neurology Society (EPNS) brings together leaders in the field, active researchers and young fellows who are interested to join or to set up research projects. It is a forum for researchers in Paediatric Neurology, where they present their work, […]