Duration
14h Th
Number of credits
| Bachelor in biomedicine | 2 crédits | |||
| Bachelor in medicine | 2 crédits |
Lecturer
Substitute(s)
Language(s) of instruction
French language
Organisation and examination
Teaching in the second semester
Schedule
Units courses prerequisite and corequisite
Prerequisite or corequisite units are presented within each program
Learning unit contents
The course presents the bases and principles of modern genetics and its medical applications. It will discuss fundamental principles of the genetic aspects of hereditary diseases and complex hereditary characters. Specific clinical descriptions will be dealt with during the various pathology courses and the Genetic counseling (2nd doctorat). The diagnostic and therapeutic perspectives are also presented. The course allows the students to understand the functioning of the genome using many examples from experimental and human genetics and to understand the scientific bases of 21st century genetics.
Course chapters
1. Gene transmission and hereditary pathologies
2. Epigenetic transmission
3. Mitochondrial heredity and mitochondria-related pathologies
4. Gene interactions
5. Genomics, genetic mapping and identification of pathogenic genes
6. Continuous variation phenotypes and genes responsible for quantitative traits
7. Genetic mutations
8. Demographic genetics
9. Pharmacogenetics
10. Cancer genetics
11. Genetic engineering
Learning outcomes of the learning unit
- Understand the hereditary transmission of monogenic genetic diseases
- Understand epigenetic transmission mechanisms. Define the parental print and understand its mechanism
- Understand the genetic particularities of mitochondrial diseases. Define the threshold effect and age-related evolution.
- Understand and define the complementation, epistasis and suppression phenomena
- Understand genetic mapping methods
- Define and understand the RFLP, minisatellite, microsatellite, and SNPs markers.
- Explain how some of the genes responsible for hereditary diseases were identified.
- Explain the threshold concept for complex pathologies and the techniques which allow to identify the responsible genes
- Define the various types of mutations and their functional impacts. Explain the triplet repeat expansion mechanism in some diseases.
- Explain the influence of the mutation rate and medical interventions on the incidence of hereditary pathologies.
- Understand the different mechanisms by which genetics influence the action of drugs.
- Understand the main categories of the genes which are responsible for cancers and the genetic mechanisms which modify their activity. Explain genetic instability and clonal evolution of cancers. Understand the transmission of the main cancer-predisposition syndromes.
- Understand the advantages of genetically-engineered recombinant proteins in a therapeutic perspective.
Prerequisite knowledge and skills
A good knowledge of general genetics and molecular biology (quadrimesters 2 and 3) is necessary. These prerequisites are briefly refreshed during the course.
Planned learning activities and teaching methods
Mode of delivery (face to face, distance learning, hybrid learning)
15 hours, 2nd semester
Recommended or required readings
- Analyse Génétique Moderne by Griffiths, Gelbart, Miller and Lewontin, De Boeck Université
- Génétique Moleculaire Humaine by Strachan and Read, Flammarion (Médecine Sciences).
Any session :
- In-person
written exam ( multiple-choice questionnaire, open-ended questions )
- Remote
written exam ( multiple-choice questionnaire, open-ended questions )
- If evaluation in "hybrid"
preferred in-person
Additional information:
Written exam in June with multiple-choice and open very short-answer questions.
Second exam session: same modality: multiple-choice and open very short-answer questions.
Work placement(s)
Organisational remarks and main changes to the course
Contacts
Main lecturer
Bours Vincent, Professeur
CHU B35
Telephone: 04-3668145
E-mail: vbours@ulg.ac.be
Secretary:
Carlino Michelle
Telephone: 04-3668145
E-mail: genetique.humaine@chuliege.be