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? […]