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Diagnosing Rare Diseases: from the Clinic to Research and back

European Joint Programme on Rare Diseases (EJP RD) and Foundation for Rare Diseases (FFRD) via FutureLearn


Learn about rare diseases diagnosis, genetic testing and diagnostic research

Around 30 million people in Europe are living with a rare genetic disease (a disease that affects less than 1 in 2,000 people).

This course offers an exploration of key questions around rare disease diagnostic research and issues today, as well as insights into patient experiences.

Learn about rare genetic disease diagnosis and testing

Over the last two decades, a lot of progress has been made in diagnosing rare genetic diseases.

You will discover more about the progress made through diagnostic research, as well as the types of genetic tests available for rare diseases, and the impact of having a diagnosis – or lacking a diagnosis – on patients’ lives.

You’ll explore key issues relating to rare genetic diseases and undertake your own internet-based investigation into several diagnostic research topics.

Understand the impact of technology in diagnostic research

Technology plays a significant role in diagnosing rare diseases.

As part of this course, you’ll explore technological advances in medical research and rare disease diagnosis, and discover the importance of data sharing, as well as the role of technology in the context of understanding the human genome.

Gain insights into patients’ experiences of rare genetic disease

This course also offers you the opportunity to gain insight into the lives of patients living with a rare genetic disease.

Guest lecturers from the field of rare diseases will also discuss their current research projects and share information from their direct work with patients.

Course image © 2020, Silvestre Cuinat

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.

This MOOC has been developed through funding from the EJP RD project.

The European Joint Programme on Rare Diseases is an initiative that has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement N825575.


  • Introduction to the course
    • Welcome and Introduction
    • What is a rare disease?
    • Are all rare genetic diseases inherited?
    • Challenges met when diagnosing rare diseases
    • What do we call a diagnostic odyssey?
    • The place of patients groups and organisations
    • Why is it so important to put a name to a disease?
    • Test your knowledge
  • What is the clinical diagnostic pathway for rare diseases patients?
    • Welcome and Introduction
    • How is a first genetic consultation held?
    • Consenting to genetic testing - practical, ethical and research issues
    • Medical diagnosis and genetic diagnosis: degree of evidence and challenges
    • Diagnosing rare diseases in Europe - collaborations and realities
    • Test your knowledge
  • Diving into analysis and interpretation of genetic results
    • Welcome and Introduction
    • What are the available tests to diagnose a rare disease?
    • Genetic testing in practice
    • How NGS techniques have been a game-changer in clinical genetic services?
    • Explanation of the human genome variability and the challenges met when interpreting data
    • What are prediction tools?
    • Basic principles of bioinformatics and biological analysis
    • Multidisciplinarity is the key
    • Reporting results to patients
    • Test your knowledge
  • What are the research steps to reach a diagnosis?
    • Welcome and Introduction
    • Specific research challenges of cases without diagnosis
    • Reclassification of Variants of Uncertain Significance
    • Family co-segregation
    • What is clinical and functional reassessment?
    • How to overcome negative exomes?
    • Importance of international collaborations
    • Test your knowledge
  • What's next after the search for a diagnosis?
    • Welcome and Introduction
    • How basic pathophysiological research can improve a diagnosis?
    • Towards multifactorial inheritance
    • Next Generation Sequencing: from Diagnosis to Prevention
    • Why are rare diseases registries and databases especially important?
    • How Social Sciences can help better understand challenges surrounding rare disease diagnosis?
    • Next Generation Sequencing in medical practice: can we afford it?
    • Wrap up and next steps

Taught by

Roseline Favresse


4.9 rating at FutureLearn based on 46 ratings

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