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

Knowledge and understanding

On completion of the course, the student shall demonstrate the ability to:

• describe the structure and function of the human genome, epigenome and transcriptome.
• describe genetic, epigenetic and associated biochemical defects in important human diseases.

Competence and skills

On completion of the course, the student shall demonstrate the ability to:

• theoretically formulate and process scientific questions and laboratory techniques within genomics and epigenomics.
• account for and evaluate current theories, methods and techniques within the research field and also practically apply some of them

Judgement and approach

On completion of the course, the student shall demonstrate the ability to:

• account for and evaluate current theories, methods and techniques within the research field both orally and in writing.

Content

The course will provide an insight into the strategies and applications of genomic and epigenomic analyses of the human genome, their 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. Bioinformatics and computational data analyses will be applied.

Genomic structure and variation will be covered, as well as population genetics and current international projects in genomics. The identification of genetic causes of human diseases will be discussed, together with genetic epidemiology. The human transcriptome, its regulation, biogenesis and function will be discussed. Comparative genomics will illustrate the genetic evolution, and the use of model organisms in understanding human diseases.

Epigenetic mechanisms affecting chromatin structure, such as modification of histones and DNA, non-coding RNAs and the nuclear architecture are covered in the course. Their implication in biological processes and human disease will be presented.

Translational genomics will be illustrated regarding diagnosis and treatment of different diseases, and its impact on public health and personalised medicine.

Instruction

All lectures, mandatory seminars, laboratory and computer exercises, and other theoretical and practical elements such as problem-oriented exercises and presentations related to current research fields are provided in English.

Assessment

Modes of assessment

• The course concludes with a written examination. There is also continuous assessment of compulsory course components.

Exceptions to modes of assessment

• 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.

Requirements for a passing grade

• To achieve a passing grade for the course, the student requires a passing grade for the written exam and practical exercises plus a pass for active participation in all compulsory course elements.