Molecular and medical genetics

Aim

Knowledge and understanding

After completing the course, the student is expected to be able to:

• Explain the different types of interactions between genes.
• Describe and discuss variation and selection in a population and in an organism.
• Describe how genetic stability is preserved in human.
• Discuss the causes and the consequences of genetic instability.
• Describe current developments in genetic technology that are relevant for human diseases.

Skills and abilities

After completing the course, the student is expected to be able to:

• Identify genetic predispositions and clonal evolution
• Analyze genetic screenings for the discovery and characterization of biological pathways and/or mutations.
• Design genetic experiments to investigate a biological mechanism, a gene, or a drug of interest.
• Design and perform experiments to study mammalian cells transformation.
• Evaluate and discuss new theories in the field of medical genetics.
• Analyze, evaluate, and present experimental results.

Judgement and approach

After completing the course, the student is expected to be able to:

• Argue the ethical and sustainability aspects within the medical application of genetics.
• Reflect on the ethical aspects of genetic research.

Content

This course covers advanced concepts of molecular genetics with application to human health. Based on the groundbreaking historical experiments that have been essential for understanding how genetics regulates cellular life, the course will cover the main theoretical principles of genetics and their application in medicine:

• Model organisms and genetic screening.
• Advanced principles of genetics: gene complementation, reversion, genetic suppression, synthetic lethality, epistatic interactions, uniparental disomy, loss of heterozygosity and clonal selection.
• Germline and somatic genome stability.
• Cause and consequences of genome instability.
• Human genetics: pedigree analysis, genetic predisposition, pathological variants.
• Gene therapy: problems, progresses and halts.
• Ethics and sustainability of genetic screenings and gene therapy in patients.