Entry requirements

180 credits in biology, bio-/medicine, biotechnology, pharmaceutical biosciences, medical science or equivalent education giving relevant knowledge in cell biology, genetics biochemistry and molecular biology. Proficiency in English equivalent to the Swedish upper secondary course English 6.

Learning outcomes

The course aims to provide an in-depth knowledge of genomics, epigenomics and comparative genomics, the current research and methods as well as its importance in human disease.

After completing the course, the student should be able to

• describe the structure and function of the human genome, epigenome and transcriptome
• describe genetic, epigenetic and associated biochemical defects in important human diseases
• theoretically formulate and process scientific questions and laboratory techniques
• account for and evaluate current theories, methods and techniques within the research field and also practically apply some of them
• compile, critically analyse and evaluate research results and present these both orally and in writing

Content

The course will provide an insight into the applications, strategies and implications of genomic and epigenomic analysis of the human genome, its impact on human diseases and translation into clinical tools. Current opinions and research findings, as well as methods and technologies, will be conveyed and discussed throughout the course. Applications of bioinformatics and computational data analysis will be illustrated.

Genomic structure and variation will be covered as well as population genetics, discussing the HapMap and 1000 genomes projects. The identification of genetic causes and their associations to human diseases will be treated together with genetic epidemiology. The human transcriptome, its regulation, biogenesis and function will be treated. Comparative genomics will illustrate the genetic evolution of man and the use of animal or other model organisms in understanding human diseases.

Epigenomics comprise an in-depth account of the epigenetic mechanisms affecting chromatin structures such as modification of histones and DNA, non-coding RNAs and nuclear structure and their importance in different fundamental biological processes, as shown e.g. in the ENCODE project. Translational genomics will be illustrated by pharmacogenomics/epigenomics, its application in drug therapies of different disease and its impact on public health and personalised medicine.

Instruction

Instruction is provided in English in the form of lectures and mandatory seminars, laboratory exercises, computer

practicals and other theoretical and practical exercises such as problem-oriented exercises and presentations related to current research fields.

Assessment

Modules: Theory 6 credits; Laboratory sessions 3 credits; Literature assignments 3 credits; Seminars 3 credits

The module laboratory sessions require completed laboratory practicals. The module literature assignments are presented in written form. The theoretical module and seminars require active participation. One written examination is given at the end of the course. To pass the requirements of the curriculum, all assigned tasks must be completed.

If there are special reasons for doing so, an examiner may make an exception from the method of assessment indicated and allow a student to be assessed by another method. An example of special reasons might be a certificate regarding special pedagogical support from the University's disability coordinator.