Skip to main content
Supervisor
Edvīns Miklaševičs

Study Course Description

Course Description Statuss:Approved
Course Description Version:3.00
Study Course Accepted:28.02.2020
Study Course Information
Course Code:BUMK_065LQF level:Level 7
Credit Points:4.00ECTS:6.00
Branch of Science:Medicine; Medical GeneticsTarget Audience:Medicine
Study Course Supervisor
Course Supervisor:Edvīns Miklaševičs
Study Course Implementer
Structural Unit:Department of Biology and Microbiology
The Head of Structural Unit:Juta Kroiča
Contacts:Rīga, Dzirciema iela 16, bmkatrsu[pnkts]lv, +371 67061584
Study Course Planning
Full-Time - 1. Semester No.
Lectures (number)7Lecture Length (academic hours)2Total Contact Hours of Lectures14
Classes (number)13Class Length (academic hours)2Total Contact Hours of Classes26
Total Contact Hours40
Lectures (number)12Lecture Length (academic hours)2Total Contact Hours of Lectures24
Classes (number)8Class Length (academic hours)2Total Contact Hours of Classes16
Total Contact Hours40
Study course description
Preliminary Knowledge:
Molecular biology and genetics, human anatomy and physiology, physics and biochemistry.
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.
Topic Layout (Full-Time)
No.TopicType of ImplementationNumberVenue
1The subject and history of medical genetics. Pedigree drawing. Laws of probability in medical genetics.Classes1.00auditorium
2The subject of medical genetics. Variation. Endogenous and exogenous causes of mutations.Lectures1.00auditorium
3Mendel’s laws. Autosomal dominant disorders.Lectures1.00auditorium
4Mendel’s laws. Problem solving: monoyhybrid, diyhybrid, polyhybrid crosses.Classes1.00auditorium
5Autosomal recessive disorders. Population genetics.Lectures1.00auditorium
6The importance of Mendel’s laws in medical genetics. Pedigree analysis.Classes1.00auditorium
7X - linked disorders. Holandric inheritance.Lectures1.00auditorium
8Risk calculation in cases of simple autosomal dominant and autosomal recessive pathologies.Classes1.00auditorium
9Epigenetics. Imprinting.Lectures1.00auditorium
10Bayesian method in medical genetics. Autosomal dominant disorders.Classes1.00auditorium
11Chromosome abnormalities and their consequences. Autosomal disorders.Lectures1.00auditorium
12X-linked disorders.Classes1.00auditorium
13Mitochondrial type of inheritance. Multifactorial traits in humans.Lectures1.00auditorium
14Factors hampering genetic counselling in monogenic disorders.Classes1.00auditorium
15Colloquium I.Classes1.00auditorium
16Imprinting.Classes1.00auditorium
17Gene linkage. Risk calculation using DNA markers.Classes1.00auditorium
18Chromosome abnormalities and their consequences.Classes1.00auditorium
19Multifactorial traits in humans.Classes1.00auditorium
20Colloquium II.Classes1.00auditorium
21Cancer genetics I.Lectures1.00auditorium
22Cancer genetics II.Lectures1.00auditorium
23Cancer genetics.Classes1.00auditorium
24Disorders of sexual development I.Lectures1.00auditorium
25Disorders of sexual development II.Lectures1.00auditorium
26Disorders of sexual development.Classes1.00auditorium
27Genetics of neuromuscular disorders.Lectures1.00auditorium
28Pharmacogenetics.Lectures1.00auditorium
29Personalised medicine.Classes1.00auditorium
30Colloquium III.Classes1.00auditorium
31Genetics of neurological disorders.Lectures1.00auditorium
32Genetics of human behaviour and addiction.Lectures1.00auditorium
33Genetics of neurological disorders.Classes1.00auditorium
34Genetics of mental and behavioural disorders I.Lectures1.00auditorium
35Genetics of mental and behavioral disorders II.Lectures1.00auditorium
36Genetics of mental and behavioural disorders.Classes1.00auditorium
37Genetics of cardiovascular disorders.Lectures1.00auditorium
38Genetics of metabolic disorders.Lectures1.00auditorium
39Genetics of cardiovascular and metabolic disorders.Classes1.00auditorium
40Colloquium IV.Classes1.00auditorium
Assessment
Unaided Work:
Tasks related to risk calculation for monogenic disorders and karyotype analysis. Problem sets are in e-studies.
Assessment Criteria:
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: a written test 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).
Final Examination (Full-Time):Exam
Final Examination (Part-Time):
Learning Outcomes
Knowledge: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:Upon completion of the study course, students will be able to analyse and calculate risk of heritable diseases, recognize most common heritable pathologies.
Competencies: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.
Bibliography
No.Reference
1Jorde L., Corey J., Bamshad M., White R. Medical genetics. The 3rd edition, Mosby, 2003.
1Emery and Riomoin's Principles and Practice of Medical Genetics. The 6th edition. Elsevier, 2013
2Vogel and Motulsky's Human Genetics. Problems and Approaches. The 4th edition, Springer, 2010.
1New England Journal of Medicine
2Online Mendelian Inheritance in Men