.
Medical Genetics
Study Course Description
Course Description Statuss:Approved
Course Description Version:7.00
Study Course Accepted:28.03.2022 10:11:50
| Study Course Information | |||||||||
| Course Code: | BUMK_065 | LQF level: | Level 7 | ||||||
| Credit Points: | 4.00 | ECTS: | 6.00 | ||||||
| Branch of Science: | Clinical Medicine; Medical Genetics | Target Audience: | Medicine | ||||||
| Study Course Supervisor | |||||||||
| Course Supervisor: | Edvīns Miklaševičs | ||||||||
| 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) | 7 | Lecture Length (academic hours) | 2 | Total Contact Hours of Lectures | 14 | ||||
| Classes (count) | 9 | Class Length (academic hours) | 2 | Total Contact Hours of Classes | 18 | ||||
| Total Contact Hours | 32 | ||||||||
| Full-Time - Semester No.2 | |||||||||
| Lectures (count) | 10 | Lecture Length (academic hours) | 2 | Total Contact Hours of Lectures | 20 | ||||
| Classes (count) | 6 | Class Length (academic hours) | 2 | Total Contact Hours of Classes | 12 | ||||
| Total Contact Hours | 32 | ||||||||
| Study course description | |||||||||
| Preliminary Knowledge: | Molecular biology and genetics, human anatomy and physiology, physics and biochemistry. | ||||||||
| Objective: | To promote the acquisition of knowledge of the role of genetic processes in health preservation and disease development; to help to understand the role of science in the development of medicine and to develop the necessary skills for application of this knowledge in medical practice. | ||||||||
| Topic Layout (Full-Time) | |||||||||
| No. | Topic | Type of Implementation | Number | Venue | |||||
| 1 | Subject of Medical Genetics.Endogenic and exogenic causes of mutations. | Lectures | 1.00 | auditorium | |||||
| 2 | Mendel’s laws. Autosomal dominant disorders. | Lectures | 1.00 | auditorium | |||||
| 3 | Mendel’s laws. Problem solving: monoyhybrid, diyhybrid, polyhybrid crosses. | Classes | 1.00 | auditorium | |||||
| 4 | Autosomal recessive disorders. Population genetics. | Lectures | 1.00 | auditorium | |||||
| 5 | X - linked disorders. Holandric inheritance. | Lectures | 1.00 | auditorium | |||||
| 6 | Risk calculation in cases of simple autosomal dominant and autosomal recessive pathologies. | Classes | 1.00 | auditorium | |||||
| 7 | Epigenetics. Imprinting. | Lectures | 1.00 | auditorium | |||||
| 8 | Bayesian method in medical genetics. Autosomal dominant disorders. | Classes | 1.00 | auditorium | |||||
| 9 | Chromosome abnormalities and their consequences. Autosomal disorders. | Lectures | 1.00 | auditorium | |||||
| 10 | X-linked disorders. | Classes | 1.00 | auditorium | |||||
| 11 | Mitochondrial type of inheritance. Multifactorial traits in humans. | Lectures | 1.00 | auditorium | |||||
| 12 | Colloquium I. | Classes | 1.00 | auditorium | |||||
| 13 | Gene linkage. Risk calculation using DNA markers. | Classes | 1.00 | auditorium | |||||
| 14 | Chromosome abnormalities and their consequences. | Classes | 1.00 | auditorium | |||||
| 15 | Imprinting. Multifactorial traits in humans. | Classes | 1.00 | auditorium | |||||
| 16 | Colloquium II. | Classes | 1.00 | auditorium | |||||
| 17 | Cancer genetics I. | Lectures | 1.00 | auditorium | |||||
| 18 | Cancer genetics II. | Lectures | 1.00 | auditorium | |||||
| 19 | Cancer genetics. | Classes | 1.00 | auditorium | |||||
| 20 | Disorders of sexual development I. | Lectures | 1.00 | auditorium | |||||
| 21 | Disorders of sexual development II. | Lectures | 1.00 | auditorium | |||||
| 22 | Disorders of sexual development. | Classes | 1.00 | auditorium | |||||
| 23 | Genetics of neuromuscular disorders. | Lectures | 1.00 | auditorium | |||||
| 24 | Pharmacogenetics. | Lectures | 1.00 | auditorium | |||||
| 25 | Genetics of neurological disorders. | Lectures | 1.00 | auditorium | |||||
| 26 | Genetics of neuromuscular disorders. Pharmacogenetics. Personalsed medicine. | Classes | 1.00 | auditorium | |||||
| 27 | Genetics of mental and behavioural disorders. | Lectures | 1.00 | auditorium | |||||
| 28 | Genetics of neurological disorders. Genetics of mental and behavioural disorders. | Classes | 1.00 | auditorium | |||||
| 29 | Genetics of cardiovascular disorders. | Lectures | 1.00 | auditorium | |||||
| 30 | Genetics of metabolic disorders. | Lectures | 1.00 | auditorium | |||||
| 31 | Genetics of cardiovascular and metabolic disorders. | Classes | 1.00 | auditorium | |||||
| 32 | Colloquium III. | Classes | 1.00 | auditorium | |||||
| Assessment | |||||||||
| Unaided Work: | Individual work with the lecture and practical classes materials, recommended literature, according to the topics of lectures and practical classes. Analysis of scientific publications to acquire deeper understanding of the study course topics (if necessary). Preparation for regular pre-class tests. Tasks related to risk calculation for monogenic disorders and karyotype analysis. Problem sets are in e-studies. Preparation for Upon completion the study course, fill in the study course evaluation questionnaire. | ||||||||
| Assessment Criteria: | Regular attendance of and active participation in practical classes; weekly tests; colloquium following the topic to test theoretical knowledge and practical skills. At the end of 3rd semester: exam that includes two theoretical questions and problem-solving tasks (risk calculation in medical genetics). The knowledge of medical genetics and practical application of this knowledge are tested. Students have the opportunity to demonstrate their understanding of important genetic regularities and their relationship to human pathology. At the end of the study course: an examination consisting of two theoretical questions on the genetic causes of human pathology (based on the topics discussed in the 4th semester). Students are eligible to receive a cumulative grade, thus, are exempt from taking the final exam. The final cumulative grade is calculated taking into account grades received for colloquia (90%) and results of pre-class tests (10%). Each unjustly missed practical class reduces final cumulative grade by 10%. | ||||||||
| Final Examination (Full-Time): | Exam | ||||||||
| Final Examination (Part-Time): | |||||||||
| Learning Outcomes | |||||||||
| Knowledge: | On successful completion of the course, students will be able to recognize 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 between genetic and environmental factors and its importance in developing multifactorial traits. | ||||||||
| Skills: | Upon completion of the study course, students will be able to analyse and calculate risk of heritable diseases, recognize most common heritable pathologies. | ||||||||
| Competencies: | Upon combining theoretical knowledge and practical skills, the students will be able to implement them in a unified integrative diagnostic activity. Students will be able to attribute the impairment of gene defects to the pathology of the body as a whole. They will understand the role of heredity in the aetiology of diseases. | ||||||||
| Bibliography | |||||||||
| No. | Reference | ||||||||
| Required Reading | |||||||||
| 1 | Jorde L., Corey J., Bamshad M., 2020. Medical genetics. The 6th edition, Mosby. | ||||||||
| 2 | Schaefer G., Thompson, Jr. J.N. eds., 2017. Medical Genetics: An Integrated Approach. McGraw Hill. (Access Medicine). | ||||||||
| Additional Reading | |||||||||
| 1 | Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. 7th Edition. 2018. | ||||||||
| 2 | Vogel and Motulsky's Human Genetics. Problems and Approaches. The 4th edition, Springer, 2010. | ||||||||
| Other Information Sources | |||||||||
| 1 | New England Journal of Medicine | ||||||||
| 2 | Online Mendelian Inheritance in Men | ||||||||
