Learning outcomes

After the course, the students will have received knowledge and understanding of the composition and concept of the human genome, genetic mechanisms and also the mechanisms and diagnostics of genetic diseases.

On completion of the course the students are expected to be able to:

Explain the composition of the human genome and basic mechanisms for DNA replication, mutagenesis, repair and recombination

Analyse genetic variation in populations and calculate genetic risk

Account for mechanisms causing genetic diseases and explain the link between genetic alteration and disease

Explain monogenic and multifactorial inheritance and identify inheritance patterns for monogenic diseases

Explain a number of laboratory technologies and motivate their use (PCR, arrays for expression analysis and genotyping, sequencing)

Apply basic methods for genetic mapping of a disease and explain the concepts of linkage and association analysis Explain the key concepts allele, genotype and haplotype and apply family analysis to draw conclusions about the inheritance of a disease

Content

DNA structure and function, genetic variation, the human genome

Monogenic and multifactorial inheritance

Cell division and chromosomes

Population genetics and risk estimation

Cancer genetics

Genetic testing, screening of newborn and carriers

Family analysis to trace disease associated alleles

Identification of genetic causes of disease

Professional training

Instruction

The course comprises compulsory seminars based on the course literature, orientating lectures, a compulsory assignment in family analysis that is presented orally and in writing and a compulsory article study that is presented orally and in writing and professional training

Assessment

For a Pass grade in the course, the requirements are that all compulsory parts as well as the final examination must be passed