Medisinsk genetikk

The course will give an overview of mechanisms for development of genetic diseases. Topics include different patterns of inheritance, like dominant, recessive, autosomal and sex linked inheritance. Genetic diseases will be classified in single-gene, chromosomal and multifactorial disorders. It will be discussed how identification of genes and variants in the genome, including gene mapping, make it possible to understand how variation can lead to disease.

Knowledge

The candidate can

• point out central examples of monogenic, polygenic and chromosomal disorders
• demonstrate good knowledge about early developmental genetics including gastrulation
• outline genetic and biochemical mechanisms of some central monogenic disorders
• demonstrate a strong background in mechanisms underlying numerical and structural chromosomal aberrations and principles mediating chromosomal disease
• explain principles for methods of genetic diagnosis, i.e. gene tests and cytogenetic methods
• outline central principles and examples of both sporadic and hereditary cancers
• understand and explain principles and methods for gene mapping
• outline what genetic counselling is, and how it is regulated in different countries

Skills

The candidate can

• discriminate between different patterns of mendelian inheritance of monogenic diseases
• predict correct nomenclature for gene and chromosomal variants
• decide why and when it is necessary to give genetic counselling
• perform risk assessment and calculate risk of being a mutation carrier
• calculate frequencies of genetic variants at the population level

Competence

The candidate can use the knowledge and skills to

• decide in which types of genetic diseases the different genetic diagnostic methods are used
• discuss bioethical issues in medical genetics in an international environment
• discuss and orally present scientific papers within the field of medical genetics

Lectures, student presentations, exercises and alternative methods for teaching and learning like Team based Learning (TBL). All teaching activities and the exam will be in English.