News
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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 […]
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ERN-ITHACA Event
ERN-ITHACA Research Workshop: December 9, Dublin – Save the date!
The ERN-ITHACA Board Meeting will take place on 8-9 December 2023 in Dublin, after the Patient Board Meeting on December 7, and this year we have decided to dedicate a full day (9 December) to the Research Workshop. The Research Workshop will conclude the Board Meeting with a cocktail farewell. The programme will be finalised […]
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First international conference on DDX3X syndrome – October 20
The DDX3X Commission of the Xtraordinaire association is pleased to announce that the first international conference on DDX3X syndrome will be held in Paris on 20 October 2023, followed by a families meeting on Saturday 21 October. The aim of the conference is to bring together doctors, families, researchers and all professionals in the field of care or educational support, […]
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ERN-ITHACA New Epags Call
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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Manchester Dysmorphology Conference 2023 – abstract submission until May 31!
The Manchester Dysmorphology Conference welcomes professionals working in the field of dysmorphology or congenital malformations, or developmental disorders. The first Conference was organized in 1984 by Professor Dian Donnai. Over the years, this biennial conference has brought experts within the field of genomic syndromology together from around the globe, to share knowledge and ideas which further […]
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EJP RD
EJP RD: 6th Research Mobility Fellowship call is open until November 18th
The programme aims to support PhD students, postdocs and medical doctors in training to undertake scientific visits to foster specialised research training outside their country of residence. The exchange can be carried out (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between […]