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.

Scientific topics: Rare diseases

Keywords: Rare Diseases & Research

Resource type: e-learning

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

Difficulty level: Intermediate

EJP RD MOOC "Diagnosing Rare Diseases: from the Clinic to Research and back" https://tess.elixir-europe.org/materials/ejp-rd-mooc-diagnosing-rare-diseases-from-the-clinic-to-research-and-back Discover the role of research, clinical investigation and data sharing in diagnosing rare diseases. This course offers an exploration of key questions around rare disease diagnostic research and issues today, as well as insights into patient experiences. Rare diseases Rare Diseases & Research PhD students postdoctoral researchers Researchers healthcare professionals Patient Advocates rare disease patients representatives