NBIK15014U Human Genetics
MSc Programme in Biology
MSc Programme in Biochemistry
The aim of the course is to give students a thorough understanding of pioneering and contemporary research in human genetics with emphasis on human genetic diseases.
The course is organised into the following topics:
- Approaches to the analysis of human monogenic disease
- Polygenic diseases
- Quantitative genetics
- Low penetrance alleles
- Genetic variation in humans
- Patterns of inheritance in humans
- Clinical genetics and genetic counselling
- Genome stability: fragile sites, translocations, chromosome fusions
- Strategies for constructing gene editing: Zinc finger nucleases (ZFNs), Transcription Activator-Like Effector Nucleases (TALENs), the CRISPR/Cas system, and engineered meganuclease re-engineered homing endonucleases.
- Strategies for performing transient gene knockdown: shRNA, RNAi, and morpholino oligonucleotides.
- Animal models and transgenesis
- Gene therapy
- Design of research projects and writing of research proposals
- Cancer Genomics
- Genome-wide association studies
- Personalized medicine based on genetic profiling
The organization and content of a research grant proposal will be taught, including typical evaluation criteria of funding agencies such as relevance and impact, originality and novelty, experimental design and contingency plans, and achievability (management plans, milestones, workplan).
- An in-depth understanding of the above topics and the experimental procedures required to study those topics
- Understanding of the organization and typical content of a research grant proposal
The student will be able to:
- read, understand and convey the reasoning and logic of scientific experiments that deals with human genetics
- design gene editing or knockdown constructs for manipulation of human cells
- identify unanswered questions within the field of human genetics
- write a research grant proposal to experimentally address unanswered questions within the field of human genetics.
- To be able to understand, evaluate and convey human genetic research.
- To design a research project
- To understand the essential elements of a research project proposal and to write a research grant proposal on a topic related to the topics covered by the course.
Primary literature. See Absalon.
- Theory exercises
- 7,5 ECTS
- Type of assessment
- Written assignment, 5 pages during the courseThe exam consists of a written assignment to produce a 5 page research grant proposal (max. 20.000 characters including spaces). The written assignment has to be handed in the last week of the course.
- All aids allowed
- Marking scale
- 7-point grading scale
- Censorship form
- No external censorship
Several internal examiners
A new written assignment must be handed in - see type of assessment.
Criteria for exam assesment
The exam will evaluate the ability to draw scientific conclusions on experimental data relating to human genetics taken from scientific publications and to write a research proposal to experimentally investigate a topic covered in the course.
The grade 12 is given for an excellent performance displaying a high level of command of all aspects of the relevant material, cf. the Learning Outcome of the course, with no or only a few minor weaknesses.