.
Medical Genetics
Study Course Description
Course Description Statuss:Approved
Course Description Version:1.00
Study Course Accepted:04.03.2024 16:25:29
| Study Course Information | |||||||||
| Course Code: | BUMK_073 | LQF level: | Level 7 | ||||||
| Credit Points: | 2.00 | ECTS: | 3.00 | ||||||
| Branch of Science: | Clinical Medicine; Medical Genetics | Target Audience: | Medicine | ||||||
| Study Course Supervisor | |||||||||
| Course Supervisor: | Miki Nakazawa (Miklasevica) | ||||||||
| Study Course Implementer | |||||||||
| Structural Unit: | Department of Biology and Microbiology | ||||||||
| The Head of Structural Unit: | |||||||||
| Contacts: | Riga, 16 Dzirciema Street, bmk rsu[pnkts]lv, +371 67061584 | ||||||||
| Study Course Planning | |||||||||
| Full-Time - Semester No.1 | |||||||||
| Lectures (count) | 12 | Lecture Length (academic hours) | 2 | Total Contact Hours of Lectures | 24 | ||||
| Classes (count) | 12 | Class Length (academic hours) | 2 | Total Contact Hours of Classes | 24 | ||||
| Total Contact Hours | 48 | ||||||||
| 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. | Topic | Type of Implementation | Number | Venue | |||||
| 1 | The subject of medical genetics. Bias in transmission genetic pathology from standard pattern of inheritance. | Lectures | 1.00 | auditorium | |||||
| 2 | Bayesian analysis for risk calculation of genetic pathology (video lecture). | Lectures | 1.00 | auditorium | |||||
| 3 | Nonmendelian inheritance. Mitochondrial inheritance. Genome imprinting. Mosaicism. | Lectures | 1.00 | auditorium | |||||
| 4 | Principle of genetic analysis (DNA marker, SNP, GWAS) and genetic testing (video lecture). | Lectures | 1.00 | auditorium | |||||
| 5 | Risk calculation of autosomal dominant pathology by using Bayesian analysis. | Classes | 1.00 | auditorium | |||||
| 6 | Reccurence risk prognosis in case of X-recessive pathology and autosomal recessive pathology. | Classes | 1.00 | auditorium | |||||
| 7 | Bayesin theorem and its usage in medical genetics. Reccurence risk prognosis by using DNA markers. | Classes | 1.00 | auditorium | |||||
| 8 | Colloquium No. 1. | Classes | 1.00 | auditorium | |||||
| 9 | DNA extraction from buccal cells. Practical work. | Classes | 1.00 | auditorium | |||||
| 10 | PCR, DNA amplification experiment. | Classes | 1.00 | laboratory | |||||
| 11 | Analysis of individual results and determination of genotypes after RFLP analysis. Team work. | Classes | 1.00 | auditorium | |||||
| 12 | Genetic aetiology of primary and secondary craniosynostosis. The role of FGFR genes in development of syndromic craniosynostosis. | Lectures | 1.00 | auditorium | |||||
| 13 | Craniofacial and dental pathology in the case of chromosomal diseases (video lecture). | Lectures | 1.00 | auditorium | |||||
| 14 | Monogenic and multifactorial model of the orofacial clefts. Genetic counselling in case of syndromic and nonsyndromic clefts. | Lectures | 1.00 | auditorium | |||||
| 15 | Discussion and case study of craniofacial pathology and orofacial clefts | Classes | 1.00 | auditorium | |||||
| 16 | Colloquium No. 2. | Classes | 1.00 | auditorium | |||||
| 17 | Genetic pathology of dental hard tissues. Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin dysplasia. | Lectures | 1.00 | auditorium | |||||
| 18 | Amelogenesis imperfecta, Dentinogenesis imperfecta (anlysis of phenotypes, classification principles). Case studies. | Classes | 1.00 | auditorium | |||||
| 19 | Teeth agenesis – heredity and genetics. | Lectures | 1.00 | auditorium | |||||
| 20 | Orthodontics. Hereditary and genetics | Lectures | 1.00 | auditorium | |||||
| 21 | Cancer genetics I. Basics of cancer, hereditary and sporadic cancer | Lectures | 1.00 | auditorium | |||||
| 22 | Cancer Genetics II. Head and neck tumour, odontogenic tumour | Lectures | 1.00 | auditorium | |||||
| 23 | Discussion and case study of cancer genetics | Classes | 1.00 | auditorium | |||||
| 24 | Colloquium No.3 | Classes | 1.00 | auditorium | |||||
| 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. 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. | ||||||||
| 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 | |||||||||
| 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. | ||||||||
