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Medical Genetics

Study Course Description

Course Description Statuss:Approved
Course Description Version:6.00
Study Course Accepted:28.07.2020
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, bmk@rsu.lv, +371 67061584
Study Course Planning
Full-Time - 1. Semester No.
Lectures (count)12Lecture Length (academic hours)2Total Contact Hours of Lectures24
Classes (count)12Class Length (academic hours)2Total Contact Hours of Classes24
Total Contact Hours48
Study course description
Preliminary Knowledge:
Molecular biology and genetics, human anatomy and physiology, physics and biochemistry.
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.
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
2Bayesian analysis for risk calculation of genetic pathology (video lecture).Lectures1.00auditorium
3Nonmendelian inheritance. Mitochondrial inheritance. Genome imprinting. Mosaicism.Lectures1.00auditorium
4Principle of genetic analysis (DNA marker, SNP, GWAS) and genetic testing (video lecture).Lectures1.00auditorium
5Risk calculation of autosomal dominant pathology by using Bayesian analysis.Classes1.00auditorium
6Reccurence risk prognosis in case of X-recessive pathology and autosomal recessive pathology.Classes1.00auditorium
7Bayesin theorem and its usage in medical genetics. Reccurence risk prognosis by using DNA markers.Classes1.00auditorium
8Colloquium No. 1.Classes1.00auditorium
9DNA extraction from buccal cells. Practical work.Classes1.00auditorium
10PCR, DNA amplification experiment.Classes1.00laboratory
11Analysis of individual results and determination of genotypes after RFLP analysis. Team work.Classes1.00auditorium
12Genetic aetiology of primary and secondary craniosynostosis. The role of FGFR genes in development of syndromic craniosynostosis.Lectures1.00auditorium
13Craniofacial and dental pathology in the case of chromosomal diseases (video lecture).Lectures1.00auditorium
14Monogenic and multifactorial model of the orofacial clefts. Genetic counselling in case of syndromic and nonsyndromic clefts.Lectures1.00auditorium
15Discussion and case study of craniofacial pathology and orofacial cleftsClasses1.00auditorium
16Colloquium No. 2.Classes1.00auditorium
17Genetic pathology of dental hard tissues. Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin dysplasia.Lectures1.00auditorium
18Amelogenesis imperfecta, Dentinogenesis imperfecta (anlysis of phenotypes, classification principles). Case studies.Classes1.00auditorium
19Teeth agenesis – heredity and genetics.Lectures1.00auditorium
20Orthodontics. Hereditary and geneticsLectures1.00auditorium
21Cancer genetics I. Basics of cancer, hereditary and sporadic cancerLectures1.00auditorium
22Cancer Genetics II. Head and neck tumour, odontogenic tumourLectures1.00auditorium
23Discussion and case study of cancer geneticsClasses1.00auditorium
24Colloquium No.3Classes1.00auditorium
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
Required Reading
1Peter D. Turnpenny, Sian Ellard. Emery’s elements of medical genetics. 2017. Philadelphia, PA: Elsevier/Churchill Livingstone.
Additional Reading
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.
Other Information Sources
1Emery's Elements of Medical Genetics http://www.rsu.lv/biblioteka/resursi/abonetie-e-resursi/ieteicamo-macibu-e-gramatu-saraksts
2OMIM (www.ncbi.nlm.nih.gov)
3http://estudijas. rsu.lv.  Medicīna 2. studiju gads Medicīniskā ģenētika