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Updated in [May 30th, 2023]
By taking this course, you will gain a better understanding of the progress made in rare diseases diagnosis, the types of genetic tests available, the impact of having a diagnosis on patients’ lives, and the role of technology in the context of understanding the human genome. You will also gain insights into patients’ experiences of rare genetic diseases and learn from guest lecturers from the field of rare diseases. Possible development paths in career or education include medical research, genetic counseling, and healthcare. Related learning suggestions include courses on medical genetics, genomics, and bioinformatics.
Course Syllabus
Introduction to the course
Welcome and IntroductionWhat is the clinical diagnostic pathway for rare diseases patients?
What is a rare disease?Diving into analysis and interpretation of genetic results
Are all rare genetic diseases inherited?What are the research steps to reach a diagnosis?
Challenges met when diagnosing rare diseasesWhat's next after the search for a diagnosis?
What do we call a diagnostic odyssey?
