News

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 […]

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 […]

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 […]

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 […]

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? […]

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 […]

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 […]

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 […]

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 […]

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 […]