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Genetics - opis przedmiotu

Informacje ogólne
Nazwa przedmiotu Genetics
Kod przedmiotu 12.0-WL-LekAM-GenE- 22
Wydział Wydział Lekarski i Nauk o Zdrowiu
Kierunek WLiNZ - oferta ERASMUS / Lekarski
Profil -
Rodzaj studiów jednolite magisterskie sześcioletnie
Semestr rozpoczęcia semestr zimowy 2023/2024
Informacje o przedmiocie
Semestr 4
Liczba punktów ECTS do zdobycia 5
Typ przedmiotu obowiązkowy
Język nauczania polski
Sylabus opracował
  • dr hab. n. med. Tomasz Huzarski, prof. UZ
Formy zajęć
Forma zajęć Liczba godzin w semestrze (stacjonarne) Liczba godzin w tygodniu (stacjonarne) Liczba godzin w semestrze (niestacjonarne) Liczba godzin w tygodniu (niestacjonarne) Forma zaliczenia
Wykład 30 2 - - Zaliczenie na ocenę
Laboratorium 30 2 - - Zaliczenie na ocenę

Cel przedmiotu

The aim of the course is to understand the mechanisms of inheritance, etiology and symptomatology as well as the principles of medical procedure in hereditary diseases.

The student learns the possibilities and indications for genetic counseling, cytogenetic tests, molecular tests and prenatal diagnostics, both in the case of rare genetic diseases, reproductive failures and common diseases, including cancer.

The student learns the genetic denomination, the principles of creating, describing and interpreting pedigrees, describing and interpreting the results of genetic tests, learns the principles of diagnosing genetic diseases.

The student learns about genetic terminology, the principles of creating, describing and interpreting genetic lineage, describing and interpreting the results of genetic tests, learning the principles of diagnosing genetic diseases. The student learns the rules of collecting a genetic interview, giving genetic counseling, and developing the result of genetic counseling The student learns about the legal foundations and ethical principles related to genetic diagnosis and counseling.

Wymagania wstępne

Knowledge of anatomy, physiology, pathophysiology, biochemistry and molecular biology.

Zakres tematyczny

  1. Fundamentals of the structure, function and organization of human genetic material.
  2. Fundamentals of mutagenesis, types of mutations and their impact on human disease.
  3. Chromosomal aberrations and their influence on human diseases.
  4. Autosomal dominant and recessive inheritance - on the example of selected diseases.
  5. Sex-linked inheritance, disorders of sex determination.
  6. Multifactorial inheritance, complex diseases
  7. Other types of inheritance; mitochondrial, genomic imprinting, repeat expansion- on the examples of selected human diseases.
  8. Genetic factors in the etiology of diseases of particular systems.
  9. Genetics of neoplastic diseases - selected issues.
  10. Neurogenetics - selected issues.
  11. Immunogenetics - selected issues
  12. Principles of collecting, securing, storing and isolating material for cytogenetic and molecular tests.
  13. Diagnostic methods of classical and molecular cytogenetics.
  14. Diagnostic methods in molecular genetics
  15. Diagnostic methods in molecular genetics
  16. NGS technology and its impact on the development of genetic diagnostics of human diseases
  17. The role of genetics in the development of personalized medicine - selected issues
  18. Genetic counseling in rare diseases
  19. Genetic counseling in common diseases on the example of hereditary cancer syndrome.
  20. Counseling and rules of prenatal genetic screening tests.
  21. Principles of creating, describing and interpreting the genetic lineage
  22. Principles of preparing and interpreting the results of genetic and cytogenetic tests
  23. Online genetic databases and their application in clinical practice
  24. Directions of development of clinical genetics; gene therapy trials, genetic vaccines, personalized medicine
  25. Ethical and legal aspects of genetic research
  26. Protection and processing of genetic data

Metody kształcenia

The lecture is conducted for the entire year.

Laboratories for groups of 8-10 students include practical applications of DNA analysis and cytogenetics.

Practical classes conducted at the genetic clinic during patient admissions, and the possibility of presenting clinical cases.

Individual work of the student with the teacher during the preparation of a presentation presenting a selected problem in the field of clinical genetics

Efekty uczenia się i metody weryfikacji osiągania efektów uczenia się

Opis efektu Symbole efektów Metody weryfikacji Forma zajęć

Warunki zaliczenia

Lecture - credit in the form of a multiple-choice test (after semester IV), written test. The test consists of 60 questions, to pass a minimum of 60% correct answers is required. For each fully correct answer (all correct answers marked and no incorrect answer marked) the student receives 1 point. There is no point or part of it for selecting only some of the correct answers in a given question or for selecting a correct and incorrect answer at the same time.

Test grading scale: 60-67% satisfactory (3); 68-76% satisfactory plus (3+); 77-85% good (4); 86-94% good plus (4+), 95-100% very good (5)

If the student does not obtain the required minimum 60%, the improvement is made orally - 5 open questions.

The student is allowed to take the test on when pass the laboratory.

Laboratory – to get credit, the following conditions are required:

- active presence at all laboratory classes,  obtaining positive grades from tasks in the laboratory program.

- preparation and delivery of a 15-minute presentation on clinical genetics. The presentation must be previously approved in terms of content by the educator.

The assessment covers: verification of knowledge in the field of preparation for the laboratory and after completed thematic blocks. Possible forms of checking knowledge: oral, written - colloquium, case study, report, presentation.

Rules for grading laboratory classes: part 1: arithmetic mean of grades for individual tasks during laboratories, it is required to pass all tasks with a minimum grade of satisfactory - arithmetic mean of grades for tasks in part 1 is 50% of the final laboratory grade. Part 2 - evaluation for a 15-minute presentation on clinical genetics. When assessing the presentation, the following elements are taken into account: selection and definition of a clinical problem, selection of source literature, selection of issues to be discussed, form of presentation, use of time for the presentation, the ability to define final conclusions. The mark for the presentation is 50% of the final laboratory mark.

Class attendance: attendance at all classes is compulsory. Any possible absence must be excused. In the case of 1-2 excused absences, specific activities should be done with another group after prior arrangement with the teacher. If it is not possible to make up for specific classes with another group, it is necessary to pass an individual credit for a given scope of material during an individual consultation agreed with the tutor. Over two absences, it is required to repeat the entire thematic block. Due to the form of the classes, it is not possible to change laboratory groups independently without the consent of the teacher. The final grade for the subject is the arithmetic mean of all forms provided for the completion of the subject. The results of the arithmetic mean are determined in accordance with the principle: mean 3.25 is the final grade of 3.5; mean 3.75 is the final score of 4.0; mean of 4.25 is the final score of 4.5; mean 4.75 is the final score of 5.0. Disputes not included in the description are subject to resolution by the course coordinator

Literatura podstawowa

  1. Jode, Carey, Bamshad (red, pol. wyd. Kałużewski B) Genetyka Medyczna. Elsevier Urban&Partner Wrocław 2014.
  2. Jerzy Bal, Genetyka medyczna i molekularna. PWN 2017
  3. Monografia pod redakcją Jana Lubińskiego. Genetyka kliniczna nowotworów  2018 http://www.genetyka.com/wp-content/uploads/2019/02/Genetyka-Kliniczna-Nowotworów-2018.pdf

Further reading

  1. Tobias E, Connor M, Ferguson-Smith M. (red. pol. wyd. Latos – Bieleńska A) Genetyka medyczna. Wyd. Lekarskie PZWL Warszawa 2011.
  2. Passarge E. Genetyka; Ilustrowany przewodnik. Wyd. Lekarskie PZWL Warszawa 2004.
  3. Dziecko z zespołem wad wrodzonych. Diagnostyka dysmorfologiczna. L. Korniszewski. PZWL 2005.

Literatura uzupełniająca

Uwagi


Zmodyfikowane przez dr Justyna Mazurek-Popczyk (ostatnia modyfikacja: 24-05-2023 18:56)