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Studiju programma
Supervisor
Miki Nakazawa-Miklaševiča

Study Course Description

Course Description Statuss:Approved
Course Description Version:5.00
Study Course Accepted:24.04.2020
Study Course Information
Course Code:BUMK_016LQF level:Level 7
Credit Points:3.00ECTS:4.50
Branch of Science:Medicine; Medical GeneticsTarget Audience:Medicine
Study Course Supervisor
Course Supervisor:Miki Nakazawa-Miklaševiča
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)12Lecture Length (academic hours)2Total Contact Hours of Lectures24
Classes (number)13Class Length (academic hours)2Total Contact Hours of Classes26
Total Contact Hours50
Study course description
Preliminary Knowledge:
Objective:
Topic Layout (Full-Time)
No.TopicType of ImplementationNumberVenue
1The subject of medical genetics. Bias in transmission genetic pathology from standard pattern of inheritance.Lectures1.00auditorium
2Nonmendelian inheritance. Mitochondrial inheritance. Genome imprinting. Mosaicism.Lectures1.00auditorium
Classes1.00other
3Genetic aetiology of primary and secondary craniosynostosis. The role of FGFR genes in development of syndromic craniosynostosis.Lectures1.00auditorium
4Amelogenesis imperfecta, Dentinogenesis imperfecta (anlysis of phenotypes, classification principles). Case studies.Classes1.00auditorium
5Classification of craniosynostosis, disscusion genotype/phenotype correlation in case of fibroblast growth factor receptors (FGFR) mutations.Classes1.00auditorium
6Genetic pathology of dental hard tissues. Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin dysplasia.Lectures1.00auditorium
7Monogenic and multifactorial model of the orofacial clefts. Genetic counselling in case of syndromic and nonsyndromic clefts.Lectures1.00auditorium
8Reccurence risk prognosis in case of X-recessive pathology considering biochemical test results.Classes1.00auditorium
9Analysis of factors that can change standard inheritance of monogenic pathology.Classes1.00auditorium
10Genetic model of haemoglobinoses and metabolic diseases. Genetics of diabetes (video lecture).Lectures1.00auditorium
11Craniofacial and dental pathology in the case of chromosomal diseases (video lecture).Lectures1.00auditorium
12Test I.Classes1.00auditorium
13DNA diagnosis; application in medicine. In vitro amplification of genomic DNA.Classes1.00auditorium
14PCR product analysis with restriction fragment length polymorphism (RFLP).Classes1.00laboratory
15Principles of diagnostics genetic pathology (video lecture).Lectures1.00auditorium
16Recombinant DNA, use of recombinant DNA molecules in medicine. Gene therapy. Stem cell technology.Lectures1.00auditorium
17Analysis of individual results and determination of genotypes after RFLP analysis. Team work.Classes1.00auditorium
18Consultation of genetic pathology, treatment, ethical issues (lecture-seminar).Lectures1.00auditorium
19Ecological genetics. Pharmacogenetics. Influence of environment during embryonic life. Terathogenesis.Lectures1.00auditorium
20Bayesin theorem and its usage in medical genetics. Reccurence risk prognosis in case of autosomal pathology.Classes1.00auditorium
21Reccurence risk prognosis in case of autosomal recessive pathology.Classes1.00auditorium
22Cancerogenetics. Mendelisn and non-mendelian cancers.Lectures1.00auditorium
23Analysis of scientific paper. Students report.Classes1.00other
24Classification and incidence of different types of human genetic pathology. Mendelian inheritance of human disorders. Laws of proba-bilities in medical genetics.Classes1.00auditorium
Assessment
Unaided Work:
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.
Assessment Criteria:
• 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.
Final Examination (Full-Time):Exam (Written)
Final Examination (Part-Time):
Learning Outcomes
Knowledge: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: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.
Competencies: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.
Bibliography
No.Reference
1Peter D. Turnpenny, Sian Ellard. Emery’s elements of medical genetics. 2017. Philadelphia, PA: Elsevier/Churchill Livingstone.
1Agnès Bloch-Zupan, Heddie O. Sedano, Crispian Scully. Dento/oro/craniofacial anomalies and genetics. 2012. Amsterdam [etc.]: Elsevier.
2Mark P. Mooney, Michael I. Siegel. 2002. Understanding craniofacial anomalies: the etiopathogenesis of craniosynostoses and facial clefting. New York: Wiley-Liss.
1Emery's Elements of Medical Genetics http://www.rsu.lv/biblioteka/resursi/abonetie-e-resursi/iet…
2OMIM (www.ncbi.nlm.nih.gov)
3http://estudijas. rsu.lv.  Medicīna 2. studiju gads Medicīniskā ģenētika