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Diagnosing Rare Diseases: from the Clinic to Research and back

Discover the role of research, clinical investigation and data sharing in diagnosing rare diseases.

1,252 enrolled on this course

Diagnosing Rare Diseases: from the Clinic to Research and back

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

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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 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.

When would you like to start?

Start straight away and learn at your own pace. If the course hasn’t started yet you’ll see the future date listed below.

  • Available now

What will you achieve?

By the end of the course, you‘ll be able to...

  • Explain the main modes of genetic inheritance
  • Describe what a rare disease is and its impact above the medical sphere
  • Understand how rare diseases are diagnosed in a medical setting
  • Explain the impact of having or lacking a diagnosis for rare diseases patients and families
  • Describe what a diagnostic odyssey is
  • Evaluate which genetic tests are most suitable for a given clinical scenario
  • Identify appropriate applications of NGS technologies to some specific clinical scenarios within a diagnostic and a research setting
  • Understand what Variants of Uncertain Significance (VUS) and clinical reassessment are
  • Describe how the field of rare diseases diagnosis has developed over the past decade
  • Explore some bioinformatics and prediction tools and their utility in diagnosing rare diseases
  • Reflect on some ethical, personal and social challenges that arise when diagnosing rare diseases

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.

Who will you learn with?

I am a geneticist specialized in cancer predispositions. I am the head of the Clinical Unit of the Genetic Department of Institut Curie in Paris, France. I have a Ph.D in cancer genetics.

MD-PhD in Medical Genetics Head of FHU TRANSLAD project (translational medicine in developmental disorders (DD) Head of the AnDDI-Rares network for DD Head of the teaching and training of ERN ITHACA

Regional Coordinator at the Foundation for Rare Diseases in France, in charge of EU programs. I am coordinating the Online Academic Course within the European Joint Programme on Rare Diseases.

Who developed the course?

Foundation for Rare Diseases

The Foundation for Rare Diseases is coordinating a series of courses on rare diseases research topics within the context of the European Joint Programme on Rare Diseases. The first course will address research issues related to diagnosis in the rare diseases context.

European Joint Programme on Rare Diseases

The European Joint Programme on Rare Diseases (EJP RD) brings over 130 institutions (including all 24 ERNs) from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.

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