Kies de Nederlandse taal
Course module: BMB453007
Human Disease Genetics
Course info
Course codeBMB453007
ECTS Credits1.5
Category / LevelM (Master)
Course typeCourse
Language of instructionEnglish
Offered byFaculty of Medicine; Graduate School of Life Sciences; Cancer, Stem Cells and Development Biology;
Contact persondr. G.W. van Haaften
Telephone+31 88 7568603
Contactperson for the course
dr. G.W. van Haaften
Other courses by this lecturer
Teaching period
MASTER  (20/08/2018 to 17/08/2019)
Teaching period in which the course begins
Time slot-: Not in use
Study mode
RemarkPlease register online on the CS&D website: CS&D students have priority until 3 weeks before start
Course application processadministratie onderwijsinstituut
Enrolling through OSIRISNo
Enrolment open to students taking subsidiary coursesNo
Waiting listNo
Course placement processadministratie onderwijsinstituut
At the end of the course the student:
  1. knows the field of disease genetics research;
  2. knows the state-of-the-art strategies and techniques used in disease genetics research;
  3. knows the possibilities offered in the field of disease genetics research;
  4. is able to participate in scientific discussions;
  5. is able to analyse presentations of other scientist;
  6. is able to design a valid complex genetics study.
Period (from – till): 20 May 2019 - 24 May 2019

Koeleman B.P.C.
Bakker de, P.I.W.
Haaften van, G;
Kloosterman, W.

all from UMCU, Afdeling medische Genetica

Description of content
Most human diseases have, in part, a genetic basis. For monogenic diseases, a single DNA mutation is sufficient to cause disease, whereas a large number of DNA variants are likely to play a role for increasing one’s susceptibility to multifactorial diseases. The search for genetic variants causing monogenic diseases, such as cystic fibrosis, forms of deafness and blindness, Huntington’s disease etc., has been going on for decades, but pinpointing the genetic basis for multifactorial diseases has been unsuccessful until recently. Multifactorial diseases, such as diabetes, rheumatoid arthritis, coronary artery disease and many more, affect millions of people around the globe, and have attracted increasing scientific attention over the past ten years or so. New technological developments have made it possible to interrogate large numbers of individuals and to detect genetic risk factors with modest effect sizes that are predicted to underlie these complex diseases. These new approaches (specifically, next-generation sequencing) are now also routinely applied for research in the context of monogenic diseases (where the root causes have not yet been identified) and for diagnostics and patient care.
In this course, we will introduce the approaches taken to discover genetic variants related to disease with an emphasis on the genetic architectures for monogenic and multifactorial diseases. We will present an overview of the various technologies currently available. We will discuss the (population genetic) theory behind genetic disease studies and illustrate results for specific diseases. Exercises will give the student hands-on experience in the design and analysis of genetic disease studies.
Literature/study material used
Various papers, to be handed out.
Please register online on the CS&D website: CS&D students have priority in registration until 3 weeks before the start of the course.
Maximum capacity is 30.

Mandatory for students in Master’s programme

Optional for students in other GSLS Master’s programme:

Prerequisite knowledge
Bsc BMW / Biology
Entry requirements
Prerequisite knowledge
You are urged to first attend the course ¿ Introduction to Bioinformatics for Molecular Biologists¿ before taking this course.
Required materials
Instructional formats
Computer practical

Core lecture





Final result
Test weight100
Minimum grade-

Kies de Nederlandse taal