Genomics, Proteomics and Bioinformatics in Disease and Diagnostics - BM and TM


Content, progress and pedagogy of the module

After attending this course, the student is expected to:

This course should give an in-depth understanding of molecular basis of life. Furthermore the role of genes and genomes in disease development in principally all organs of the body is a big part of this course. The most important methods in molecular diagnostics are discussed. The course encompasses basic bioinformatics tools needed in a modern biomedical laboratory.

The course spans the following topics:

1. Genomics and proteomics in diagnostics and disease:

  • Regulation of gene expression
  • Post-translation protein modifications and fibrillation
  • Epigenetics
  • Molecular cloning
  • Mutations and DNA repair
  • Modern diagnostic methods

2. Bioinformatics:

  • Biological Databases
  • Alignments and Phylogeny
  • Gene expression and Structural Analysis of genes and gene products

Learning objectives


  • Explain organization of genes and genomes in eukaryotes, particularly in human.
  • Explain all levels at which expression of genes is regulated and what consequences it has for the disease pathophysiology as well as potential in diagnostics


  • Apply basic molecular methods in diagnostic laboratory
  • Evaluate a choice of diagnostic method
  • Choose appropriate databases, algorithms and parameters in a bioinformatics analysis


  • Combine the theoretical knowledge about genes and genomes with the ability to perform laboratory experiments in order to design a diagnostic or analytical protocol
  • Evaluate the obtained results based on the theoretical knowledge within pathophysiology and molecular medicine
  • Solve and evaluate complex analytical issues e.g. design of new diagnostic tools, evaluation of scientific articles at the highest international level; integrating knowledge from the previous semesters with the current course.
  • Analyse molecular data such as DNA sequences, mRNA, proteins using bioinformatics

Type of instruction

The course is developed as a series of lectures with exercises, mini projects and practical laboratory exercises.



Name of examGenomics, Proteomics and Bioinformatics in Disease and Diagnostics
Type of exam
Written exam
AssessmentPassed/Not Passed
Type of gradingInternal examination
Criteria of assessmentThe criteria of assessment are stated in the Examination Policies and Procedures

Additional information

Please contact the  programme student counsellors if you consider applying to the education and you have questions.

Please consult the Moodle page for your semester and contact the semester coordinator if you have academic questions, or the study secretary if you have administrative questions.

All other enquiries may be directed to Helene Nørgaard, secretary of the Study Board.

Facts about the module

Danish titleGenomik, proteomik og bioinformatik i sygdom og diagnostik - BM og TM
Module codeMEDMS13K1_2
Module typeCourse
Duration1 semester
Language of instructionEnglish
Location of the lectureCampus Aalborg
Responsible for the module


Study BoardStudy Board of Medicine
DepartmentDepartment of Clinical Medicine
FacultyThe Faculty of Medicine