Veidlapa Nr. M-3 (8)
Study Course Description
Medical Genetics
Course Code
BUMK_065
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
6.00
Target Audience
Medicine
LQF
Level 7
Study Type And Form
Full-Time
Study Course Implementer
Course Supervisor
Edvīns Miklaševičs
Structure Unit Manager
Juta Kroiča
Structural Unit
Department of Biology and Microbiology
Contacts
Riga, 16 Dzirciema Street, bmk@rsu.lv, +371 67061584
About Study Course
Objective
To promote the acquisition of knowledge of the role of genetic processes in health preservation and disease development; to help to understand the role of science in the development of medicine and to develop the necessary skills for application of this knowledge in medical practice.
Preliminary Knowledge
Molecular biology and genetics, human anatomy and physiology, physics and biochemistry.
Learning Outcomes
Knowledge
1.On successful completion of the course, students will be able to recognize and characterize main types of human heritable pathologies, their inheritance; explain laws of inheritance of human traits; characterize heritable and sporadic mutations and clarify their role in human pathologies; explain interaction between genetic and environmental factors and its importance in developing multifactorial traits.
Skills
1.Upon completion of the study course, students will be able to analyse and calculate risk of heritable diseases, recognize most common heritable pathologies.
Competences
1.Upon combining theoretical knowledge and practical skills, the students will be able to implement them in a unified integrative diagnostic activity. Students will be able to attribute the impairment of gene defects to the pathology of the body as a whole. They will understand the role of heredity in the aetiology of diseases.
Assessment
Individual work
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Title
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% from total grade
|
Grade
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|---|---|---|
|
1.
Individual work |
-
|
-
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|
Individual work with the lecture and practical classes materials, recommended literature, according to the topics of lectures and practical classes. Analysis of scientific publications to acquire deeper understanding of the study course topics (if necessary). Preparation for regular pre-class tests. Tasks related to risk calculation for monogenic disorders and karyotype analysis. Problem sets are in e-studies. Preparation for Upon completion the study course, fill in the study course evaluation questionnaire.
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Examination
|
Title
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% from total grade
|
Grade
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|---|---|---|
|
1.
Examination |
-
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10 points
|
|
Regular attendance of and active participation in practical classes; weekly tests; colloquium following the topic to test theoretical knowledge and practical skills. At the end of 3rd semester: exam that includes two theoretical questions and problem-solving tasks (risk calculation in medical genetics). The knowledge of medical genetics and practical application of this knowledge are tested. Students have the opportunity to demonstrate their understanding of important genetic regularities and their relationship to human pathology. At the end of the study course: an examination consisting of two theoretical questions on the genetic causes of human pathology (based on the topics discussed in the 4th semester). Students are eligible to receive a cumulative grade, thus, are exempt from taking the final exam. The final cumulative grade is calculated taking into account grades received for colloquia (90%) and results of pre-class tests (10%). Each unjustly missed practical class reduces final cumulative grade by 10%. |
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Study Course Theme Plan
FULL-TIME
Part 1
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Lecture
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Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
|
2
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Topics
|
Subject of Medical Genetics.Endogenic and exogenic causes of mutations.
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-
Lecture
|
Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
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2
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Topics
|
X - linked disorders. Holandric inheritance.
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-
Class/Seminar
|
Modality
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Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
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2
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Topics
|
Mendel’s laws. Problem solving: monoyhybrid, diyhybrid, polyhybrid crosses.
|
-
Lecture
|
Modality
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Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Autosomal recessive disorders. Population genetics.
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-
Class/Seminar
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Modality
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Location
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Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Chromosome abnormalities and their consequences.
|
-
Class/Seminar
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
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Topics
|
Risk calculation in cases of simple autosomal dominant and autosomal recessive pathologies.
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-
Class/Seminar
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Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Imprinting. Multifactorial traits in humans.
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-
Lecture
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Chromosome abnormalities and their consequences. Autosomal disorders.
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-
Class/Seminar
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
X-linked disorders.
|
-
Lecture
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Mitochondrial type of inheritance. Multifactorial traits in humans.
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-
Class/Seminar
|
Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
|
2
|
Topics
|
Colloquium II.
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-
Lecture
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Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
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2
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Topics
|
Mendel’s laws. Autosomal dominant disorders.
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-
Class/Seminar
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Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
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2
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Topics
|
Colloquium I.
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-
Class/Seminar
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Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
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2
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Topics
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Gene linkage. Risk calculation using DNA markers.
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-
Class/Seminar
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Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
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Topics
|
Bayesian method in medical genetics. Autosomal dominant disorders.
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-
Lecture
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Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
|
2
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Topics
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Epigenetics. Imprinting.
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Total ECTS (Creditpoints):
3.00
Contact hours:
32 Academic Hours
Final Examination:
Test (Semester)
Part 2
-
Lecture
|
Modality
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Location
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Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Cancer genetics I.
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-
Lecture
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Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
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2
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Topics
|
Cancer genetics II.
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-
Class/Seminar
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Modality
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Location
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Contact hours
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|---|---|---|
|
On site
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Auditorium
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2
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Topics
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Cancer genetics.
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-
Lecture
|
Modality
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Location
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Contact hours
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|---|---|---|
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On site
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Auditorium
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2
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Topics
|
Disorders of sexual development I.
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-
Lecture
|
Modality
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Location
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Contact hours
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|---|---|---|
|
On site
|
Auditorium
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2
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Topics
|
Disorders of sexual development II.
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-
Class/Seminar
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Disorders of sexual development.
|
-
Lecture
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of neuromuscular disorders.
|
-
Lecture
|
Modality
|
Location
|
Contact hours
|
|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Pharmacogenetics.
|
-
Lecture
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of neurological disorders.
|
-
Class/Seminar
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of neuromuscular disorders. Pharmacogenetics. Personalsed medicine.
|
-
Lecture
|
Modality
|
Location
|
Contact hours
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|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of mental and behavioural disorders.
|
-
Class/Seminar
|
Modality
|
Location
|
Contact hours
|
|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of neurological disorders. Genetics of mental and behavioural disorders.
|
-
Lecture
|
Modality
|
Location
|
Contact hours
|
|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of cardiovascular disorders.
|
-
Lecture
|
Modality
|
Location
|
Contact hours
|
|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of metabolic disorders.
|
-
Class/Seminar
|
Modality
|
Location
|
Contact hours
|
|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Genetics of cardiovascular and metabolic disorders.
|
-
Class/Seminar
|
Modality
|
Location
|
Contact hours
|
|---|---|---|
|
On site
|
Auditorium
|
2
|
Topics
|
Colloquium III.
|
Total ECTS (Creditpoints):
3.00
Contact hours:
32 Academic Hours
Final Examination:
Exam
Bibliography
Required Reading
1.
Jorde L., Corey J., Bamshad M., 2020. Medical genetics. 6th edition, Mosby.Suitable for English stream
2.
Schaefer G., Thompson, Jr. J.N. eds., 2017. Medical Genetics: An Integrated Approach. McGraw Hill. (Access Medicine).Suitable for English stream
Additional Reading
1.
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. 7th Edition. 2018.Suitable for English stream
2.
Vogel and Motulsky's Human Genetics. Problems and Approaches. The 4th edition, Springer, 2010.Suitable for English stream
Other Information Sources
1.
New England Journal of MedicineSuitable for English stream
2.
Online Mendelian Inheritance in MenSuitable for English stream