Diagnosing Rare Diseases: from the Clinic to Research and back
Foundation for Rare Diseases
  • Start Date: 01 May, 2023
  • 5 weeks
  • Study Content: Videos


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

Course Fee: Free
Certificate Cost: See Fees and Eligibility

Course Description

This course is made available through the eLearnAfrica and FutureLearn partnership.

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









ITHACA logo ERN GENTURIS logo

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.


Certificate cost may vary. You will be redirected to the host page for cost and payment options.

Foundation for Rare Diseases

This university is part of the partnership between eLearnAfrica and FutureLearn.

This institution is available on eLearnAfrica through partnership with FutureLearn.

You may be able to download course materials after enrolling in this course. If not, all of the necessary course materials provided by the course instructor will be available on the provider's course page.
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