Rare Genetic Diseases: Research and Diagnosis – Online Course – Fut
Develop your understanding of rare genetic diseases and their diagnosis, and discover more about the role of technology in medical research with this free course.
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.
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.
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
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