EJP RD MOOC "Diagnosing Rare Diseases: from the Clinic to Research and back"

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.

Keywords: Rare Diseases & Research


Additional information

Target audience: PhD students, postdoctoral researchers, Researchers, healthcare professionals, Patient Advocates , rare disease patients representatives

Resource type: e-learning

Scientific topics: Rare diseases