Learning outcomes

The student will receive knowledge of the composition of the human genome if genetic mechanisms and about the genesis mechanisms and diagnostics of genetic diseases. The student is expected on completion of the course: - Be able to explain connection between disease and genetic changes. - To on the basis of a clinical description be able to explain how it it goes to identify a genetic reason for a disease (the disease to gen). - Be able to describe and apply a number of techniques for genetic mapping of a disease (genetic and physical maps, connection - and association analyses, microsatellites and SNP-markers). - Be able to describe and use a number of techniques for the analysis of the structure of genes and function (large-scale DNA-sequencing, DNA chips, advanced PCR techniques, phage-display, yeast-two-hybrid system and knock-in and knock-out analyses). - Be able to use bioinformatic tools and justify and explain the choice of method.

Content

Genetic mekanisker and reasons for genetic disease. Techniques for the analysis of the structure and function of genes and for genetic mapping. Research problems: the disease to gen.

Instruction

The teaching comprises lectures, group exercises, web-based assignments and laboratory sessions.

Assessment

To receive a passed on the course, all compulsory parts and a passed examination are required. In order to be examined the student must have fullfilled the compulsory parts of the course. Possibility to supplement failed laboratory course can be given at the earliest at next course and only in case of a vacancy. Students who have not passed the examination have the right to take the examination 4 additional times (= total 5 examinations). If special circumstances apply, the programme committee can admit additional examination. Every time the student participates in an examination counts, i.e. also submission of a so called blank exam. Submission of so called blank exam is counted as an examination.