LEARN: MOOC Diagnosing Rare Diseases

MOOC Diagnosing Rare Disease

Now open! A facilitation window for the MOOC Diagnosing Rare Diseases: from the Clinic to Research and back is open from Monday, May 12, until Friday, July 4.
You can access the course here.

During this period, experts and mentors will be available online to answer participants’ questions and stimulate insightful discussions throughout the course.

This free online course, developed within the European Joint Programme on Rare Diseases (EJP RD), was co-created by ERN ITHACA, ERN GENTURIS, EURORDIS, and the Fondation Maladies Rares.

The MOOC explores key topics in the diagnosis of rare genetic diseases, including:

  • The diagnostic process and types of genetic tests available
  • Differences in patient pathways for rare genetic diseases
  • Technological advances in diagnostic research
  • The importance of collaborative studies and data sharing
  • The impact of having (or lacking) a diagnosis on patients’ lives
  • The contribution of physiopathological and social science approaches in rare disease diagnostics
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