News
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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, […]
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ePAG
Rare Disease Day campaign in Romania
Since its beginning in 2008, Rare Disease Day has been instrumental for the rare disease in building our advocacy at national level and connection with an international rare disease community that is global and diverse – but united in purpose and action, and that has supported our policy actions nationally and internationally. By sharing our […]
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ERN-ITHACA Event
9th International Meeting on Rare Disorders of the RAS-MAPK Pathway
Dear colleagues, In the tradition of our biennial workshop held as a satellite to the ESHG conference, we are pleased to invite you once again to a face-to-face meeting in Berlin on 31 May and 1 June 2024. Main topics shall be: The organisers are in the process of compiling the programme. As for the […]
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EJP RD
Join the EJPRD MOOCs on rare diseases!
The European Joint Programme on Rare Diseases (EJPRD) has developed so far two MOOCs: · 1) From Lab to Clinic: Translational Research for Rare Diseases, developed by FFRD, EATRIS, Eurordis, EURO-NMD, and LUMC. It was launched in October 2022, and so far over 1500 participants enrolled the course.· 2) Diagnosing Rare Diseases: from the Clinic to research and […]
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ERN-ITHACA Event
ERN-ITHACA webinar 10 “Incidental and secondary findings from exome/genome sequencing : The views...
The issue of incidental data, which has always existed in genetics, is becoming exponential with the advent of genomic medicine. The issue of secondary data, involving an active search for variants in a list of so-called actionable genes, is very popular in the USA, whereas Europeans are urging caution. In this webinar, we would like to take […]
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ERN-ITHACA Event
New ERN ITHACA Webinar on Guidelines Methodology on November 7! Registration open.
ERN-ITHACA Webinar 9: ERN-ITHACA Guidelines from Start to Finish: An overview of the methodology. In this webinar, we present the ERN-ITHACA view on clinical practice guideline methodology. What does the guideline development process entail and how do we ensure that our guidelines are methodologically sound? What does the endorsement procedure for existing guidelines look like? […]
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Translational research for rare diseases MOOC: new facilitation window open until December 2
A new facilitation window of the MOOC From Lab to Clinic: Translational Research for Rare Diseases on October 9th, supported by the ERN-ITHACA is now open. This update will be available until December 2nd 2023.With expert guidance, explore drug discovery, clinical trials, regulatory approval, and challenges in this unique field. Gain insights from patients and experts, understand trial planning, design, […]
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The rare disease community comes together in calling on the EU & national...
We, the undersigned, representing the European Reference Networks (ERNs) and peopleliving with a rare disease across Europe, call on the EU institutions and EU Member States’governments to stand by the European Reference Networks and to uphold theircommitment to enable long-lasting impact in people’s lives and, fundamentally, give allpeople living with a rare or complex condition […]
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ERN-ITHACA Event
Multidisciplinary Fetal Diagnostics Winter School – apply now!
Content The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the […]