Veidlapa Nr. M-3 (8)
Study Course Description
Diagnostics of Genetic Diseases
Course Code
RLA_011
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
4.05
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Jeļena Storoženko
Residency Speciality
Speciality
Laboratory doctor
Supervisor of Medical Speciality
Jeļena Storoženko
Contacts
-
About Study Course
Objective
To prepare laboratory doctors capable of performing diagnostics of genetic diseases and knowing basic principles of treatment. To use modern genetic examination methods for diagnostics and differential diagnostics of diseases. To use clinical, biochemical and cytogenetic methods in clinical genetics. To apply examination algorithms and to interpret the results. To master internal and external quality control methods in laboratory diagnostics of genetic diseases.
Learning Outcomes
Knowledge
1.- to describe possibilities of using clinical and biochemical methods in clinical genetics; - to describe possibilities of using cytogenetic methods in clinical genetics; - to characterise the procedure of examination of elevated genetic risk pregnant women; - to evaluate advantages of different groups of diagnostic methods; - to describe principles of selective screening of genetic pathologies; - to be familiar with the operation of the congenital anomaly register in Latvia.
Skills
1.- to prepare samples for genetic examination; - to perform methods of obtaining chromosomes in prenatal diagnostics; - to perform methods of obtaining chromosomes in postnatal diagnostics; - to evaluate indications for, methods used in genetic biochemical examinations and obtained results; - to perform biochemical screening for foetus’s Down syndrome, trisomy 13 and 18, using PAAP-A and b-HGT markers.
Competences
1.To perform a genetic examination of human biological material: to master medical genetic consulting principles, to be able to use congenital anomaly screening tests; to be able to use the procedure of examination of elevated genetic risk pregnant women for diagnostics of foetus’s congenital development anomalies. To use examination algorithm for diagnostics of genetic diseases and to recommend further examination activity to clinicians.
Assessment
Individual work
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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.
Individual work |
-
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-
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Preparation of a presentation about the application of latest methods in laboratory diagnostics of genetic diseases.
In-depth research: Use of molecular diagnostic methods in clinical genetics.
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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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Assessment of knowledge – written answers to questions at the end of the study course.
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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|---|---|---|
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On site
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Auditorium
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Topics
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Laboratory diagnostics of genetic diseases. Application of clinical and biochemical methods in clinical genetics
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Seminar
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Modality
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Location
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|---|---|---|
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On site
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Auditorium
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Topics
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Application of cytogenetic methods in clinical genetics, possibilities of application of molecular cytogenetics and sequencing methods
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Total ECTS (Creditpoints):
4.05
Number of Residency Seminars:
2
Length (weeks):
4
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
Medical Genetics. 5th Edition, Ed: Lynn B. Jorde, John C. Carey, Michael J. 2016
2.
Henry's Clinical Diagnosis and Management by Laboratory Methods. 23rd Edition, 2017
3.
Roy E. Weiss, Samuel Refetoff. Genetic Diagnosis of Endocrine Disorders. 2nd Edition, 2015
4.
BRS Biochemistry, Molecular Biology, and Genetics (Board Review Series). 7th Edition. Ed: by Michael A. Lieberman, Dr. Rick Rice. 2020
Additional Reading
1.
European Journal of Medical Genetics. Editor in Chief: Alain Verloes
2.
Manual of Molecular and Clinical Laboratory Immunology. 8th Edition, Ed: Barbara Detrick, Robert G. Hamilton, John L. Schmitz. 2016
3.
Molecular Genetics and Metabolism
4.
Is the official journal of the Society for Inherited Metabolic Disorders
5.
Oxford Handbook of Clinical and Laboratory Investigation. Edited by Drew Provan. Oxford University Press, 2018