Genetics

Course guarantor:

Eduard Kočárek

Lecturer:

Eduard Kočárek

Tutor:

Eduard Kočárek

Supervisor:

Department of Circuit Theory

Synopsis:

The subject provides students of technical dsciplines with basic information about genetics with an emphasis on modern genetic disciplines and knowledge that is closely related to the issue of medical electronics and especially bioinformatics. The focus is on the organization and function of the human genome, including its possible pathologically significant changes and the techniques used to determine them. Students will also learn basic information about clinical genetics, genetic counseling, genetic testing, as well as their possible ethical and legal issues. The conclusion of the course also deals with original and modern approaches enabling targeted editing of the genome, especially the so-called gene therapy. Although the majority of the curriculum is oriented towards the human organism, knowledge about the genetics of other living systems - especially prokaryotes and viruses - is part of the teaching.

Requirements:

Lectures are not obligatory, but their attendance is recommended.

The final exams will take place during the winter semester exam period. The first term takes place in the form of a written test, the other terms are oral.

During the exam the student must not use any information sources or electronic aids (cell phones, tablets, smart watch, calculators etc.).

Consultation hours are possible after negotiation with the teacher - e-mail: eduard.kocarek@lfmotol.cuni.cz

The materials listed below are recommended for self-study. However, in no case can we recommend Internet resources such as the Czech or Slovak wikipedia, „wikiskripta“, etc.

Syllabus of lectures:

1. Introduction to genetics, important milestones in the history of genetics, structure and function of information biomacromolecules, central dogma of molecular biology, DNA replication, transcription and translation, genetic code

2. Genetics and bioinformatics, genetic laboratory and basic tools of molecular genetics

3. Genome, transcriptome, exome, proteome; genomics; human genome, types of sequences contained in it, human genome project, human gene and its structure, regulation of gene expression in humans, epigenetics

4. Types of mutations and their origin, DNA polymorphisms; molecular basis of genetically conditioned diseases.

5. Eukaryotic and prokaryotic cell and their genome. Non-cellular organisms: viruses, viroids and prions, their nature and significance

6. Basics of cytogenetics; structure and types of chromosomes, human karyotype, numerical and structural aberrations of chromosomes. Cytogenetic examinations and their importance, use of image analysis in cytogenetics

7. Cell cycle, its regulation and possible disorders.

8. Principles of oncogenetics; tumor cell and its origin; tumor classification; oncogenes, tumor suppressor and mutator genes, chromosome changes in tumors, hereditary malignancies.

9. Meiosis and its importance; gene linkage, crossing over

10. Genetics in prenatal and reproductive medicine, techniques, ethical and legal issues

11. Types of inheritance, monogenic and multifactorial diseases, genetic counseling, its basic tasks and ethical problems, informatics in genetic counseling

12. Gene therapy: possibilities and principles, CRISPR-Cas genome editor

Syllabus of tutorials:

The course has no exercise.

Study Objective:

Study materials:

[1] Presentations from classes (available on the MOODLE)

[2] Passarge, Eberhart: Color Atlas of Genetics. Thieme Publishers, 2017

[3] PRITCHARD, Dorian, KORF, Bruce: Medical Genetics at a Glance. 3rd edition, Wiley-Blackwell, 2016

Note:

Further information:

https://moodle.fel.cvut.cz/courses/BAB31GEN

Time-table for winter semester 2024/2025:

	06:00–08:0008:00–10:0010:00–12:0012:00–14:0014:00–16:0016:00–18:0018:00–20:0020:00–22:0022:00–24:00
Mon
Tue
Wed
Thu	roomT2:C3-54 Kočárek E. 16:15–17:45 (lecture parallel1) Dejvice T2:C3-54
Fri

Time-table for summer semester 2024/2025:

Time-table is not available yet

The course is a part of the following study plans:

• Medical electronics and bioinformatics (compulsory course in the program)