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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.

2,720 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



  • Week 1

    Introduction to the course

    • Welcome and Introduction

      You will learn what a rare genetic disease is and what are the main inheritance patterns of rare genetic diseases. You will also get introduced to what a medical diagnosis and a genetic diagnosis are.

    • What is a rare disease?

      Rare diseases are diseases which affect a small number of people compared to the general population. Specific issues are raised in relation to their rarity.

    • Are all rare genetic diseases inherited?

      About 70%-80% of rare diseases are of genetic origin. In the remaining 20 to 30%, a rare disease can be caused by factors in the environment such as drug exposure or infections or be due to autoimmunity and are not inherited.

    • Challenges met when diagnosing rare diseases

      The notion of diagnosis in medicine may seem difficult to grasp and the ease of diagnosis varies from one individual to another.

    • What do we call a diagnostic odyssey?

      A diagnostic odyssey is a term which has come to be used to refer to the period from the onset of the first symptoms to the date of a definite diagnosis.

    • The place of patients groups and organisations

      Patients organizations and groups are essential in the diagnostic process and odyssey of many rare diseases patients around the world.

    • Why is it so important to put a name to a disease?

      Putting a name to a disease is a fundamental step in the journey of the patient and his/her relatives. It enables to clarify the prognosis and the progression of the disease and also to implement the appropriate care.

    • Test your knowledge

      What have you learnt and understood this week? Test your knowledge with a multiple choice quizz and reflect on the week's content.

  • Week 2

    What is the clinical diagnostic pathway for rare diseases patients?

    • Welcome and Introduction

      In this week, you will learn how a genetic consultation is held, what is the degree of evidence of a medical diagnosis as well as what are the advantages and limitations of a medical diagnosis.

    • How is a first genetic consultation held?

      In this first part, you will learn how a first genetic consultation is prepared and run. The first genetic consultation is the initial step of the geneticist’s investigation.

    • Consenting to genetic testing - practical, ethical and research issues

      In most European countries, a genetic test is subject to a written informed consent containing quite similar information from one European country to another.

    • Medical diagnosis and genetic diagnosis: degree of evidence and challenges

      As you have seen in week 1, three main diagnostic situations (obvious, probable, unknown) can be found in genetics that we are recapitulating and detailing further this week.

    • Diagnosing rare diseases in Europe - collaborations and realities

      Over 30 million Europeans are concerned by a rare disease. How does the EU meets the challenge? Are there differences in addressing the challenge from on EU country to another?

    • Test your knowledge

      What have you learnt and understood this week? Test your knowledge with this quiz! Take also the opportunity to reflect on the week.

  • Week 3

    Diving into analysis and interpretation of genetic results

    • Welcome and Introduction

      From prescribing of a genetic test to reporting the results of a genetic test: what happens? what are the challenges met?

    • What are the available tests to diagnose a rare disease?

      You will learn about the tests available in a medical setting to diagnose a rare disease (presumably of genetic origin). You will see the challenges, performance, advantages and disadvantages raised by each of them.

    • Genetic testing in practice

      We will now see more concretely how it works in the genetics clinics practice.

    • How NGS techniques have been a game-changer in clinical genetic services?

      You will now learn about how NGS techniques have been game changers when diagnosing a genetic rare disease.

    • Explanation of the human genome variability and the challenges met when interpreting data

      The human genome has not had as much time to accumulate genetic variation as have the vast majority of species on earth. Nonetheless, there is considerable genetic variation in our species.

    • What are prediction tools?

      The variants and regions of the human genome can be annotated with tens of data sources.

    • Basic principles of bioinformatics and biological analysis

      You will now get introduced to the basic principles of bioinformatics and biological analysis of databases to support the genetic analysis.

    • Multidisciplinarity is the key

      In this item, you will learn how multidisciplinary approaches are essential and rapidly developing in the genetic diagnosis of rare diseases, namely in the context of European Reference Networks (ERN).

    • Reporting results to patients

      You will now learn about five different situations that can be met in the clinical diagnostic practice when reporting the results to the patients.

    • Test your knowledge

      What have you learnt and understood this week? Test your knowledge with this quiz! Take some time to reflect on the week as well.

  • Week 4

    What are the research steps to reach a diagnosis?

    • Welcome and Introduction

      When a diagnosis could not be found after state of the art clinical diagnostic tests and process: what research can offer to finally reach a diagnosis for undiagnosed patients?

    • Specific research challenges of cases without diagnosis

      Not finding a diagnosis in a clinical setting should lead to the development of research activities. Those will differ depending if a Variant of Uncertain Significance (VUS) has been identified or not.

    • Reclassification of Variants of Uncertain Significance

      We will explain why researchers should reassess gene tests results to declassify and/or reclassify variants.

    • Family co-segregation

      Understand and exercise around family co-segregation

    • What is clinical and functional reassessment?

      Clinical reassessment can have a role to play in different situations and can lead to the prescription of complementary investigations.

    • How to overcome negative exomes?

      How new research techniques and perspectives can overcome negative exomes.

    • Importance of international collaborations

      International collaborations and initiatives are key to tackle undiagnosed rare diseases.

    • Test your knowledge

      Time to assess what you have understood this week and to reflect on the topics of the week.

  • Week 5

    What's next after the search for a diagnosis?

    • Welcome and Introduction

      Welcome to the last week of this course! This week opens the reflection to related-research fields that would help grasp both the challenges and the opportunities when diagnosing rare diseases from other perspectives.

    • How basic pathophysiological research can improve a diagnosis?

      Basic research in medicine refers to the study of fundamental knowledge and to the understanding of biological mechanisms and processes that underlie illness and health.

    • Towards multifactorial inheritance

      Towards multifactorial inheritance: How the estimation of risks and assessing the potential role of the environment can contribute to diagnostic evaluation?

    • Next Generation Sequencing: from Diagnosis to Prevention

      Sequencing individual genomes can help detect numerous variants that may be relevant for many applications, including preventive medicine.

    • Why are rare diseases registries and databases especially important?

      To initiate clinical trials or to conduct natural history studies in rare diseases, a sufficient number of patients is often difficult to find.

    • How Social Sciences can help better understand challenges surrounding rare disease diagnosis?

      Social sciences make a significant contribution to our capacity to both understand health problems and challenges beyond medical issues. They also offer interesting avenues to explore in order to offer novel solutions.

    • Next Generation Sequencing in medical practice: can we afford it?

      NGS technologies have emerged as important alternatives to the traditional diagnostic pathway, especially with drastic cost reduction of those techniques. What does it entail from an health-economics perspective?

    • Wrap up and next steps

      A few take home messages and some information on additional training on rare diseases.

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

Learning on this course

You can take this self-guided course and learn at your own pace. On every step of the course you can meet other learners, share your ideas and join in with active discussions in the comments.

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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