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Supervisor
Edvīns Miklaševičs

Study Course Description

Course Description Statuss:Approved
Course Description Version:5.00
Study Course Accepted:21.08.2018
Study Course Information
Course Code:BUMK_048LQF level:Level 7
Credit Points:3.00ECTS:4.50
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, 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)6Lecture Length (academic hours)2Total Contact Hours of Lectures12
Classes (number)4Class Length (academic hours)2Total Contact Hours of Classes8
Total Contact Hours20
Study course description
Preliminary Knowledge:
Molecular biology, human anatomy and physiology, physics, biochemistry
Objective:
To acquire basic knowledge in medical genetics and skills in analyzing risks of heritable diseases.
Topic Layout (Full-Time)
No.TopicType of ImplementationNumberVenue
1Introduction. Pedigree drawing. Laws of probabilities in medical genetics.Classes1.00auditorium
2The subject of medical genetics. Endogenous and exogenous causes of mutations.Lectures1.00auditorium
3Mendel’s laws. Problem solving: monoyhybrid-, diyhybrid,polyhybrid crosses.Classes1.00auditorium
4Mendel’s laws. Autosomal dominant disorders.Lectures1.00auditorium
5Classification and incidence of different types of human genetic pathology. Mendelian inheritance of human disorders.Classes1.00auditorium
6Autosomal recessive disorders. Population genetics.Lectures1.00auditorium
7X - linked disorders. Holandric inheritance.Lectures1.00auditorium
8X - linked disorders. Holandric inheritance.Classes1.00auditorium
9EpigeneticsLectures1.00auditorium
10Bayesian method in medical genetics. Autosomal dominant disorders.Classes1.00auditorium
11Chromosome abnormalities and their consequences.Lectures1.00auditorium
12X-linked disorders. Holandric, sex-limited and sex-influenced disorders.Classes1.00auditorium
13Difficulties in genetic counselling.Classes1.00auditorium
14C o l l o q u i u m IClasses1.00auditorium
15Multifactorial type of inheritance. Multifactorial traits in humans.Lectures1.00auditorium
16Imprinting.Classes1.00auditorium
17Gene linkage. Risk calculation using DNA markers.Classes1.00auditorium
18Chromosome abnormalities and their consequences.Classes1.00auditorium
19Multifactorial disorders.Classes1.00auditorium
20C o l l o q u i u m I IClasses1.00auditorium
21Mitochondrial diseases. Multifactorial disorders.Lectures1.00auditorium
22Mitochondrial diseases. Multifactorial disorders.Classes1.00auditorium
23Multifactorial disorders. Part IILectures1.00auditorium
24Multifactorial disordersClasses1.00auditorium
25Cancer Genetics. Part ILectures1.00auditorium
26Horizontal gene transfer. Gene therapy.Lectures1.00auditorium
27Cancer Genetics. Part IILectures1.00auditorium
28Cancer Genetics.Classes1.00auditorium
29Pharmacogenetics.Lectures1.00auditorium
30Pharmacogenetics.Personalized medicine.Classes1.00auditorium
Assessment
Unaided Work:
Students will work in small groups or individualy.
Assessment Criteria:
- regular attendace of practical classes, weekly tests; - colloquiums to test theoretical knowledge and skills; - final test, which includes two theoretical questions and problems (risk calculation).
Final Examination (Full-Time):Exam
Final Examination (Part-Time):
Learning Outcomes
Knowledge:Students will be able to recognoze 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 betwqeen genetic and environmental factors and its importance in developing multifactorial traits.
Skills:Students will be able to analyze and calculate risk of heritable diseases, recognize most common heritable npathologies.
Competencies:Combined theoretical knowledge and aquired skill will provide students knowledge about disease etiology.
Bibliography
No.Reference
1Jorde L., Carey J., Bamshad M., White R. Medical Genetics. Third Edition. – Mosby; 2003, 363 p.
1Emery and Rimoin'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 (www.nejm.org)
2OMIM (www.ncbi.nlm.nih.gov)
3http://estudijas. rsu.lv.  Medicīna 2. studiju gads Medicīniskā ģenētika