Clinical Genetics
Study Course Implementer
Residency Speciality
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About Study Course
Objective
Learning Outcomes
Knowledge
1.As a result of the study course, the student acquires knowledge about the most important genetic testing methods, is able to name and describe the role of genetic testing in the diagnosis of immunopathologies, formulate indications for genetic testing.
Skills
1.The student is able to identify patients with immunopathology who require genetic testing and is able to analyse the results of genetic testing and apply them to the diagnosis of immune diseases.
Competences
1.The student is competent to refer patients with various immunopathologies for genetic testing, to justify the need for such testing and is competent to apply the results of genetic testing to the diagnosis of immune diseases.
Assessment
Individual work
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Title
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% from total grade
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Grade
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1.
Individual work |
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-
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Independent preparation of papers on seminar topics.
Independent study of literature.
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Examination
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Title
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% from total grade
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Grade
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|---|---|---|
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1.
Examination |
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-
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Successful presentation of papers at seminars.
An open discussion on topics of clinical genetics.
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Study Course Theme Plan
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Seminar
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Modality
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Location
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Topics
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Genetic testing methods
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Seminar
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Modality
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Location
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-
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Topics
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Genetic testing of patients with primary immunodeficiencies
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Seminar
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Modality
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Location
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Topics
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Genetic testing in case of rare diseases
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Bibliography
Required Reading
K.L. Jones, M.C. Jones, M. Del Campo. Smith’s recognizable patterns of human malformation: expert consult – online and print. 8th Ed. Elsevier, 2021
H.V. Firth, J.A. Hurst. Oxford Desk Reference: Clinical Genetics and Genomics (Oxford Desk Reference Series). 2nd Ed. Oxford University Press, 2017