MABIOD4400 Genomic Analysis Course description

The course discusses theoretical and practical aspects of modern DNS technology applied to detect genetic variation in the human genome (DNS), including NGS (Next Generation Sequencing) methods. It focuses on normal variation and variation in connection to predisposition for diseases. The laboratory part comprises a practical introduction to PCR method, DNA sequence analysis, DNA fragment analysis, and quantitative PCR (qPCR, analysis of gene expression). The practical part includes exercises with basic bio informatics tools for the analysis of DNA, RNA, and amino acids sequence data. The bioinformatics part also provides an introduction to the analysis of NGS data, including with the aid of RStudio.

The course deals with nuclear medicine methods for diagnostics and treatment of diseases. Emphasis is placed on knowledge of radiation protection, and the medical areas of application of different types of ionising radiation. The course also focuses on nuclear medicine imaging and detection principles and on how radiopharmaceuticals are produced and prepared in a sterile manner in nuclear medicine units. Discussion and reflection on the ethical challenges associated with work in nuclear medicine units is also an integral part of the course.

Nuclear medicine methods belong to the category molecular imaging, while other methods in this category are covered by the course MABIO4700 Molecular Imaging.

After completing the course, the student is expected to have achieved the following learning outcomes defined in terms of knowledge, skills and competence

Knowledge

The student has

• in-depth knowledge of structural and molecular variation, such as sequence, length, and copy number variation, and mechanisms leading to genetic variation
• advanced knowledge of genetic variation that can lead to disease
• in-depth knowledge of screening methods that are used in medical genetics and high-throughput methods used for molecular genetic research
• advanced knowledge of the principles behind methods and their areas of application
• specialised insight into the areas of application for selected bioinformatics tools for DNA and RNA analyses.

Skills

The student is capable of

• carrying out independent basic analyses using the PCR technique, DNA sequencing, fragment analysis and qPCR
• independently assessing the suitability of methods and using this in the development of diagnostic methods
• understanding and interpreting quantitative qPCR results in an independent manner
• using basic bioinformatics tools in the development of methods and analysis of NGS data

Competence

The student is capable of

• familiarising him/herself with and taking a critical approach to new methods and apparatuses used in biomedicine (including NGS platforms), with a view to their areas of application, possibilities, and limitations

After completing the course, the student is expected to have achieved the following learning outcomes defined in terms of knowledge, skills and competence:

Knowledge

The student

• has in-depth knowledge of radioactive pharmaceuticals’ chemical, biological, and pharmacokinetic properties
• has advanced knowledge of the most common clinical examinations and therapies in nuclear medicine, and the relevance of these methods in relation to various diseases and disease mechanisms
• has advanced knowledge of nuclear medicine imaging and processing
• has in-depth knowledge of what characterises the different types of radiation
• has in-depth knowledge of the principles of quality control of nuclear medicine equipment and specimens
• has in-depth knowledge of preparation of radiopharmaceuticals
• is capable of describing applicable radiation protection provisions in the field of nuclear medicine

Skills

The student is capable of

• applying medical-technical equipment in nuclear medicine units
• mastering routine quality control of equipment and specimens
• mastering aseptic work techniques and knows how to protect him/herself and others against contamination and infection when preparing radiopharmaceuticals
• is capable of using safety equipment when handling radioactivity

Competence

The student is capable of

• familiarising him/herself with and taking a critical approach to new methods and apparatuses used in nuclear medicine with particular emphasis on their areas of application, possibilities, and limitations.

The following required coursework must be approved before the student can take the exam:

• minimum attendance of 80% at the laboratory course
• minimum attendance of 80% at seminars
• approx. three written laboratory reports in accordance with specified criteria

The following required coursework must be approved before the student can take the exam:

• minimum attendance of 80% at seminars and scheduled group work
• minimum attendance of 90 % at the laboratory course
• individual practical test, approx. 2 hours
• individual project assignment about a nuclear medicine topic, up to 6,000 words

Exam content: The learning outcomes

Exam form: Individual written exam, 4 hours

None

Grade scale A-F