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

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 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.

• 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