General provisions

Part of the Bachelor program in biomedicin

Entry requirements

35 credits of completed courses at the bachelor program in biomedicin from year 1 and Biochemistry, 7 credits (3KB030), Molecular Cell Biology, 15 credits (3MU123), Basic Statistics 3 credits (3ME067), Tissue Biology with Embryology, 15 credits (3MU122) or equivalent. 

Learning outcomes

The course intends to give basic theoretical knowledge and practical skills in the subject medical genetics.

KNOWLEDGE AND UNDERSTANDING

After completing the course, the students should be able to account for

• The composition and size of the human genome with regards to coding, non-coding and repeated genetic elements.
• The structure and function including basic mechanisms for DNA replication, mutagenesis, repair and recombination of the chromosomes.
• Mechanisms for how the expression of genes is regulated on transcription and translation level.
• How different genetic variants can influence gene expression and gene function.
• The underlying mechanisms of genetic diseases
• The inheritance of simple and complex characters/diseases in families and populations
• Different methods to analyse human karyotypes and identify different chromosome aberrations
• Different methods, that are used to study genetic variation, such as genotyping and sequencing
• How genetic markers can be used in forensic medicine.
• Different methods that are used to study gene expressions/gene activity
• Methods for gene identification based on linkage and association analysis
• How one carries out an analysis of an organism's on a genome-wide level, how to study the transcription pattern of individual genes or the transcription profiling of all genes, as well as how to study the epigenetic pattern.
• How genetic diseases are diagnosed and which genetic diagnostic analyses that are carried out in clinical genetics.
• Which factors that influence the frequency of a genetic variant in a population (population genetics, selection, genetic drift and adaptation).
• Basic mechanisms for genome evolution and how genetic model organisms are used in genetic research.
• How to perform functional analyses of genes and gen-variants
• The importance of, and the difference between, different genetic concepts and terms
• The difference between somatic and hereditary genetic variation
• Ethical issues in genetic research and diagnostics
• How genetic variation influences how we respond to treatments and medicationsThe importance of genetic variation in the development of cancer

SKILL AND ABILITIES

After completing the course, the students should be able to:

• Calculate the risk for repetition of a disease in a family
• Calculate allele and genotype frequencies by means of Hardy-Weinberg equation
• Determine if a genetic marker is linked to a disease in a family
• Determine if an allele is associated with a disease risk or with variation in a quantitative phenotype in a population
• Use bioinformatic databases to find information about genes, genomes and genetic diseases.
• Calculate the risk that unrelated individuals share the same genotype(s) by chance

JUDGEMENT AND APPROACH

Assemble and interpret experimental results and information from bioinformatic databases both orally and in writing. Identify and analyse ethical problems around genetic tests and gene manipulation. Search, compile, present and review information in relation to genetic tests and gene modifications critically.

Content

• Chromosomal structure, normal and deviant karyotypes.
• Monogenic and multifactorial inheritance.
• Methods for gene identification of simple and complex diseases/phenotypes.
• Population genetics and disease-risk calculation in families.
• Diagnostics in clinical genetics, screening of newborn as well as carriers.
• The composition and genetic variation of the human genome.
• Genome evolution, genetic model organisms and comparative genomics.
• Methods to analyse whole the structure and function of genome, large-scale analysis of DNA sequence and epigenetic variation as well as measurement of transcription and protein levels
• Methods to link a gene to a disease
• Mechanisms for regulation of gene expression.
• Use of genetic markers in forensic medicine.
• Ethical principles, processes and statements
• Pharmacogenetics and cancer genetics

A continuous evaluation of the course design is ongoing and may result in some changes in the structure and content of the courses.

Instruction

The teaching includes

• Lectures that are linked to the contents of the prescribed book and some lectures that give supplementary information to the book
• Compulsory seminars
• Compulsory individual work in bioinformatics that is presented in writing
• Compulsory forensic project that is presented orally and in writing.
• Compulsory assignment in family-analyses that is presented orally.Compulsory study of a scientific ethical issue ("scientific controversy"), that be presented orally.

Assessment

Passing the course requires that the student has:

• In an active way has participated in and presented the compulsory parts
• Passed written laboratory reports
• Passed individual written examination of the whole course