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* Retrieved from Course syllabus BB2290 (Autumn 2021–)

Content and learning outcomes

Course contents

The role of the genome and the epigenome in medicine will be in focus, both in health and disease conditions. Current and upcoming technologies to analyse genetic and epigenomic features will be discussed. The impact of genome variation will be exemplified with cancer, rare and complex diseases. Strategies for diagnosis and treatment of the diseases are covered, such as gene and stem cell therapy. Diseases related to polymerization and structural changes of proteins such as Alzheimer's disease and prion conditions will also be addressed.

The following subjects will be covered during the course

Human Genome Organisation & Principles of Genetic Variation
Principles of Gene Regulation and Epigenetics
Disease-causing genetic variants
Single gene disorders
Multifactorial disorders
Genetic Approaches to Treating Disease, including gene and cell therapy

Intended learning outcomes

After completing the course, the students will be able to 

  • Describe genome variation types and regulatory mechanisms
  • Choose appropriate approaches and technologies for a given problem
  • Explain mechanisms related to cancer
  • Demonstrate critical reading skills in the context of scientific articles

For higher grades (>E), students should be able to 

  • Assess functional impact of genetic and epigenetic variants in health and disease
  • Judge, assess genetic treatment approaches in a given context
  • Summarise single and complex gene disorders
  • Examine current genetic approaches/technologies to detect, treat diseases
  • Examine role of genetic variation in drug response, metabolism

Course Disposition

No information inserted

Literature and preparations

Specific prerequisites

A bachelor's degree, corresponding to at least 180 ECTS credits, including at least a total of 20 ECTS Biotechnology 20 ECTS  Chemistry and 20 ECTS Mathematics or similar.

Recommended prerequisites

Introduction to biotechnology BB1010, Cellbiology BB1020, Biochemistry BB1100, Molecular biotechnology BB1060, Bioinformatics DD2396 and Applied gene technology BB2250.


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Examination and completion

If the course is discontinued, students may request to be examined during the following two academic years.

Grading scale

A, B, C, D, E, FX, F


  • LAB1 - Laboratory work, 1,0 hp, betygsskala: P, F
  • SEM1 - Project seminar, 2,0 hp, betygsskala: P, F
  • TEN2 - Written Exam, 4,5 hp, betygsskala: A, B, C, D, E, FX, F

Based on recommendation from KTH’s coordinator for disabilities, the examiner will decide how to adapt an examination for students with documented disability.

The examiner may apply another examination format when re-examining individual students.

Other requirements for final grade

Attendance to seminar work(s) is mandatory to pass the course.

Opportunity to complete the requirements via supplementary examination

No information inserted

Opportunity to raise an approved grade via renewed examination

No information inserted


Profile picture Pelin Sahlén

Ethical approach

  • All members of a group are responsible for the group's work.
  • In any assessment, every student shall honestly disclose any help received and sources used.
  • In an oral assessment, every student shall be able to present and answer questions about the entire assignment and solution.

Further information

Course web

Further information about the course can be found on the Course web at the link below. Information on the Course web will later be moved to this site.

Course web BB2290

Offered by

CBH/Gene Technology

Main field of study


Education cycle

Second cycle

Add-on studies

No information inserted

Supplementary information

Students are required to sign up at least two weeks in advance for examination.

The course is given provided at least seven students are admitted.