Veidlapa Nr. M-3 (8)
Study Course Description
Medical Genetics
Course Code
BUMK_073
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
3.00
Target Audience
Medicine
LQF
Level 7
Study Type And Form
Full-Time
Study Course Implementer
Course Supervisor
Miki Nakazawa (Miklasevica)
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 about the role of genetic processes in maintaining health and the development of diseases, to help understand the role of science in the development of medicine, to develop the necessary skills in the use of this knowledge in medical practice.
Preliminary Knowledge
Molecular biology and genetics, human anatomy and physiology, physics and biochemistry.
Learning Outcomes
Knowledge
1.Upon successful completion of the course students will be able to identify and characterize main types of human genetic abnormalities, their characteristics and inheritance laws, to outline the characteristics of human inheritance patterns, to distinguish between heritable and sporadic mutations, to explain the interaction between genotype and the external environmental factors and its importance in human multifactorial pathology.
Skills
1.Students will be able to analyse and calculate the risk of genetic abnormalities for offspring, to identify the most common genetic abnormalities and interpret DNA diagnostic results.
Competences
1.Upon combination of theoretical knowledge and practical skills, students will be able to apply them in a single integrative work. Students will be able to relate genetic disorders to pathology of human body in general. Students will understand the role of heredity in disease aetiology.
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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Within the framework of the course students work both individually and in groups. Students have to prepare presentations according to the course topics, perform an analysis of scientific publications and write a summary of particular topic.
In order to evaluate the quality of the study course as a whole, the student must fill out the study course evaluation questionnaire on the Student Portal.
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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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• Regular attendance of and active participation in practical classes, quality of weekly tests, timely submitted project works of good quality;
• Colloquium at the end of the topic – assessment of theoretical knowledge and practical skills;
• At the end of the course – a written exam consisting of theoretical questions (multiple choice questions) and tasks in medical genetics. Students’ knowledge about medical genetics and abilities of practical application of the knowledge is tested. Students have an opportunity to demonstrate an understanding of significant genetic correlations and their relation to human pathology.
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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
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2
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Topics
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The subject of medical genetics. Bias in transmission genetic pathology from standard pattern of inheritance.
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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
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Bayesian analysis for risk calculation of genetic pathology (video lecture).
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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
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Nonmendelian inheritance. Mitochondrial inheritance. Genome imprinting. Mosaicism.
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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
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Principle of genetic analysis (DNA marker, SNP, GWAS) and genetic testing (video lecture).
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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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Risk calculation of autosomal dominant pathology by using Bayesian analysis.
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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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Reccurence risk prognosis in case of X-recessive pathology and autosomal recessive pathology.
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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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Bayesin theorem and its usage in medical genetics.
Reccurence risk prognosis by using DNA markers.
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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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Colloquium No. 1.
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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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DNA extraction from buccal cells. Practical work.
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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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Laboratory
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2
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Topics
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PCR, DNA amplification experiment.
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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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Analysis of individual results and determination of genotypes after RFLP analysis. Team work.
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-
Unaided Work
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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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Other
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0
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Topics
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Analysis of individual results and determination of genotypes after RFLP analysis. Team work.
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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
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Genetic aetiology of primary and secondary craniosynostosis. The role of FGFR genes in development of syndromic craniosynostosis.
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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
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Craniofacial and dental pathology in the case of chromosomal diseases (video lecture).
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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
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Monogenic and multifactorial model of the orofacial clefts. Genetic counselling in case of syndromic and nonsyndromic clefts.
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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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Discussion and case study of craniofacial pathology and orofacial clefts
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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 No. 2.
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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
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Genetic pathology of dental hard tissues. Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin dysplasia.
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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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Amelogenesis imperfecta, Dentinogenesis imperfecta (anlysis of phenotypes, classification principles). Case studies.
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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
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Teeth agenesis – heredity and genetics.
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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
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Orthodontics. Hereditary and genetics
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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
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Cancer genetics I. Basics of cancer, hereditary and sporadic cancer
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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
|
Cancer Genetics II. Head and neck tumour, odontogenic tumour
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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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Discussion and case study of cancer 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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|---|---|---|
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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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Colloquium No.3
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Total ECTS (Creditpoints):
3.00
Contact hours:
48 Academic Hours
Final Examination:
Exam (Written)
Bibliography
Required Reading
1.
Peter D. Turnpenny, Sian Ellard. Emery’s elements of medical genetics and grnomics. 2022. Philadelphia, PA: Elsevier/Churchill Livingstone.
Additional Reading
1.
Agnès Bloch-Zupan, Heddie O. Sedano, Crispian Scully. Dento/oro/craniofacial anomalies and genetics. 2012. Amsterdam [etc.]: Elsevier.
2.
Mark P. Mooney, Michael I. Siegel. 2002. Understanding craniofacial anomalies: the etiopathogenesis of craniosynostoses and facial clefting. New York: Wiley-Liss.
Other Information Sources
1.
Emery's Elements of Medical Genetics
2.
OMIM
3.
Medicīna, 2. studiju gads, Medicīniskā ģenētika - rsu.lv.