In the framework of the European Joint Programme on Rare Diseases (EJP RD), the Rare Disease Foundation, ERN Ithaca and ERN Genturis have co-developed the MOOC « Diagnosing Rare Diseases: from the Clinic to Research and back« .
This course will be conducted in English only.
Session 3 of the MOOC will start on 18 April 2022 and will remain open for 7 weeks, but it is already possible to register by clicking here.
What topics will be covered?
- The diagnostic process and types of genetic tests available for rare diseases,
- Differences in patient pathways for rare genetic diseases,
- Technological advances in diagnostic research,
- The role of collaborative studies and data sharing in the diagnosis of rare diseases,
- The impact of the existence or absence of a diagnosis on patients’ lives,
- The role and place of pathophysiological approaches and social science research in the context of rare disease diagnosis,
- Learners will gain insight into patients’ experiences, discuss key issues related to this topic and also have the opportunity to undertake their own internet research.
This course is intended for people interested in diagnostic research and rare diseases.
Primarily aimed at medical students and PhD/post-doctoral students in biomedical sciences, it will also be of interest to representatives of patient organisations, health professionals or paramedics who wish to learn more about rare disease diagnostics.