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Lecturer(s)
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Srovnal Josef, doc. MUDr. Ph.D.
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Procházka Martin, prof. MUDr. Ph.D.
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Curtisová Václava, MUDr.
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Course content
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Examples of specific diseases will be used to demonstrate the most common diagnostic strategies. The students will learn about the possibilities of use of the European portal Orphanet, of the world-wide database of heritable diseases OMIM, about the most prominent databases of genetic variants HUGO, ClinVar, about the European association of rare disease patients Eurordis and its Czech national branch ČAVO. The course will include persentation / discussion with selected patients who live with their rare disease.
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Learning activities and teaching methods
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Monologic Lecture(Interpretation, Training), Dialogic Lecture (Discussion, Dialog, Brainstorming), Demonstration, Activating (Simulations, Games, Dramatization)
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Learning outcomes
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To demonstrate on examples from genetic clinic the specific characteristics of care of rare diseases. Rare diseases are characterized - 1) by the difficulties and sometimes long timespan of the diagnostic process, 2) by the interdisciplinarity of highly specialized care, 3) patients with rare diseases have a specific motivation to exchange information and experience and to collaborate in all aspects of care.
The students will learn that besides proper diagnostics and therapy, medicine of rare diseases includes a wide range of further aspects - all that can be described as "complex care". The patients have a substantial role: their needs and possibilities to share with their peers information about their disease as well as their motivation to participate in development of diagnostics and care of their disease are important for their understanding of their disease and for rational planning of their lives.
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Prerequisites
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Basic understanding of the diagnostic process (at least on the level of Internal or Paediatric Propaedeutics), basic skills with information retrieval from the Internet (as e.g. Medline), basic knowledge of inheritance mechanisms.
LGE/VA012
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Assessment methods and criteria
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Dialog, Seminar Work
Active participation.
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Recommended literature
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Nussbaum R. L., McInnes R. R., Willard H. F. (2016). Thompson & Thompson Genetics in Medicine. Philadelphia, PA: Elsevier.
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Tobias E.S., Connor M., Ferguson--Smith M. (2011). Essential medical genetics. Chichester: Wiley-Blackwell.
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