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

The European Joint Programme on Rare Diseases has launched an online academic education course on rare diseases research topics. The development of the courses is coordinated by the Foundation for Rare Diseases, one of the EJP RD partners.

The first MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” is now open for enrollment.

You can register for free here. The MOOC will start on April 26th.

It has been co-developed by representatives from ERN Ithaca (Prof Laurence Faivre, Dijon University Hospital), ERN Genturis (Dr Chrystelle Colas, Curie Institute) and Foundation for Rare Diseases (Roseline Favresse). Dedicated support and enlightened advice was also provided all along the development by Eurordis (Dr Virginie Bros-Facer)

More information here

Duration: 5 weeks

Weekly study: 3 hours

Who is the course for?

This course is designed for individuals with a keen interest in diagnostic research and rare diseases. While primarily designed for medical students and PhD/post-doc students in biomedical sciences, it will also be of interest to Patients Advocacy Organisations’ representatives, Healthcare professionals or paramedics who want to further their knowledge of rare diseases diagnosis.

What topics will you cover?

  • 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 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.