Diagnosing Rare Diseases: from the Clinic to the Research and back

The French Foundation for Rare Diseases (FFRD) has codeveloped, in collaboration with European Reference Networks Genturis and Ithaca, in the context of the European Joint Programme for Rare Diseases EJPRD a MOOC (Massive Open Online Course) completely free named “Diagnosing Rare Diseases: from the Clinic to the Research and back”.

The third session will start next Monday April, 18th andis now open for enrollment:


Here below the topics covered:

·         The diagnostic process and the types of genetic tests available for rare diseases

·         The differences in rare genetic diseases patient pathways

·         Technological advances for diagnostic research

·         The role of collaborative studies and data sharing in rare diseases diagnosis

·         The impact of having a diagnosis or lacking a diagnosis on patients’ lives

·         The role and place of physiopathology approaches as well as social sciences research in the context of rare diseases diagnosis.

·         Learners will gain insight into patients’ experiences, will discuss key issues relating to this topic and will also have the possibility to undertake their own internet-based investigations.

The course is designed for individuals with a keen interest in diagnostic research and rare diseases.