Veidlapa Nr. M-3 (8)
Study Course Description
Genetics
Course Code
RAD_013
Branch of Science
Clinical medicine
ECTS
12.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Juris Ērenpreiss
Residency Speciality
Speciality
Andrologist
Supervisor of Medical Speciality
Juris Ērenpreiss
Contacts
-
About Study Course
Objective
To ensure acquisition and improvement of theoretical knowledge and practical skills in genetics in accordance with the requirements of the specialty of physician-andrologist in order to prepare the doctor for certification in the additional specialty of andrologist.
Learning Outcomes
Knowledge
1.Recognises genetic pathologies affecting male reproductive function: Kallmann syndrome, cystic fibrosis, etc. Has good knowledge of the diagnosis, strategy, treatment thereof. Can assess the risk of transmission to offspring. Has good knowledge of karyotype changes affecting male reproductive function (Klinefelter syndrome, translocations, etc.). Can assess the risk of transmission to offspring. Evaluates the indications for performing various genetic methods in reproductive medicine (karyotyping, FISH and other methods), the impact of the results thereof on reproductive strategies and treatment. Explains preimplantation genetic screening and preimplantation genetic diagnosis (PGS, PGD) in male and female infertility. Explains the treatment strategy for relevant genetic pathologies. Has good knowledge of Y-chromosome microdeletions, relationship thereof with sperm quality, indications for detection, the impact of the result on the choice of treatment method.
Skills
1.Performs DNA extraction from blood samples. Performs detection of Y-chromosome microdeletions by PCR method. Performs karyotype determination in blood samples. Performs detection of CFTR gene mutations. Uses the PGT-A method.
Competences
1.Has good knowledge of genetic pathologies affecting reproductive function. Diagnoses genetic causes of infertility, performs genetic counselling in cases of genetic pathology related to reproductive health and family planning. Able to evaluate the risk of genetic transmission in cases of genetic pathologies, especially in medical fertilisation procedures, and recommend the optimal strategy.
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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Getting acquainted with the recommended reading. Preparation of a presentation on the novelties of diagnosis and treatment of a current genetic-andrological pathology.
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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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Practical work – 90% (diagnosis and treatment of andrological patients with genetic pathologies). Final examination: oral exam (analysis of 3 clinical cases) – 10%.
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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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-
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-
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Topics
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Karyotype changes affecting male reproductive function (Klinefelter syndrome, XX male syndrome, XYY syndrome, translocations, etc.). Diagnosis, strategy.
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Y-chromosome microdeletions, congenital aplasia of vas deferens (CBAVD), and other common genetic pathologies associated with male infertility. Monogenic and polygenic diseases that cause infertility. Diagnosis, strategy, treatment.
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Other genetic pathologies affecting male reproductive function: Kallmann syndrome, Prader-Labhart-Willi syndrome, types of hermaphroditism, androgen insensitivity syndrome (partial, complete), Reifenstein syndrome, etc.
Monogenic and polygenic diseases that cause infertility. Diagnosis, strategy, treatment.
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Seminar
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Modality
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Location
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|---|---|---|
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-
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Topics
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DNA extraction methods, Y-chromosome microdeletion detection methods, karyotyping. Indications for use. The role of genetic testing in the diagnosis and differential diagnosis of azoospermia and the prediction of the outcome of testicular biopsy (TESE).
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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FISH, CMA and PGT-a/sr/m methods, application thereof in infertility diagnosis and treatment, and reproductive strategies. Preimplantation genetic screening and preimplantation genetic diagnosis.
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Genetic counselling in case of infertility, treatment strategy for relevant genetic pathologies.
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Total ECTS (Creditpoints):
12.00
Number of Residency Seminars:
6
Length (weeks):
9
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
McKinlay Gardner, R. J., Amor, D. J. 2018. Chromosome Abnormalities and Genetic Counseling. 5th edition. Oxford University press (pieļaujams izmantot arī iepriekšējo izdevumu)
Additional Reading
1.
American Urology Association. Guidelines
2.
European Society of Human Reproduction and Embryology
3.
British Urology Researchers in Surgical Training (BURST)
4.
American Society of Andrology
5.
Canadian Fertility and Andrology Society
6.
American Society for Reproductive Medicine
7.
American College of Obstetricians and Gynecologists