Human Molecular Genetics
Level of Study
Semester of Instruction
Note: Course will only be arranged if at least 10 students sign up for the course.
Max 30 students.
Place of Instruction
Laboratory building / BB-building, Haukeland University Hospital.
Objectives and Content
The course is aimed at giving the student a theoretical overview of basic concepts in human
The course will include activities that will familiarise the student with basic study design in human molecular genetics. The course will include discussions on modern genetics and ethical issues.
After completion of the course the student should be able to:
- Explain and place into context problems from human genetics
- Explain basic concepts in genetics: mutation /polymorphisms, heredity, Mendelian genetics, complex genetics.
- Plan and conduct simple experiments.
- Critically interpret and evaluate the results.
- Interpret articles in genetics of Mendelian diseases and complex diseases.
Required Previous Knowledge
Fundamental knowledge of molecular biology.
The student must also be familiar with basic concepts of molecular biology such as replication,
transcription, translation, meiosis, mitosis, gene structure (exon/intron, splicing).
The student must also be familiar with basic methods such as polymerase chain reaction (PCR)
Recommended Previous Knowledge
Basic knowledge in statistics.
Teaching Methods and Extent of Organized Teaching
The course will consist of 2 parts.
The first part will cover basic knowledge
- Lectures to cover aspects of basic concepts (mutation and polymorphisms, Mendelian genetics, complex genetics, population genetics).
- Learning activities for designing and carrying association studies and sequencing studies.
The second part will cover more advanced topics in human genetic research and clinical genetics
- Lecture: clinical genetics and genetic counselling, personalized genomes.
- Research seminars.
- Learning activities: Ethical issues in genetics and genetic architecture of diseases.
Forms of Assessment
Exam consists of 2 parts:
1. basic knowledge acquisition tested with written exam (possibly digital),
2. litterature oral presentation. Both parts must be passed to pass the course.