Certificate of Achievement

Mary Templeman Hogg - O'Rourke

has completed the following course:

Diagnosing Rare Diseases: from the Clinic to Research and back

Foundation for Rare Diseases and European Joint Programme on Rare Diseases

This online course focused on the diagnosis of rare diseases of genetic origin. The course covered topics from clinics to research: specific challenges raised by rare diseases, clinical diagnosis pathways, genetic testing, data sharing, human genome variability, clinical reassessment, most recent diagnostics tools and techniques as well as international research collaborations. The course also explored the impact of having or lacking a diagnosis as well as building links with other disciplines.

5 weeks, 3 hours per week


European Joint Programme on Rare Diseases - WP16 Online Academic Course Coordinator

Foundation for Rare Diseases


Learning outcomes

  • 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


  • 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.

Issued on 4th May 2022

The person named on this certificate has completed the activities in the transcript above. For more information about Certificates of Achievement and the effort required to become eligible, visit futurelearn.com/proof-of-learning/certificate-of-achievement.

This certificate represents proof of learning. It is not a formal qualification, degree, or part of a degree.

Free online course:

Diagnosing Rare Diseases: from the Clinic to Research and back

Foundation for Rare Diseases