Developmental Genetics and Genregulation
Reference DHBIOM00000029
Taught in Majors List Master of Biomedical Sciences
Theory (A) 30.0
Exercises (B) 0.0
Training and projects (C) 0.0
Studytime (D) 180.0
Studypoints (E) 6
Credit contract? Access is determined after successful competences assessment
Examination contract? Access is determined after successful competences assessment
Credit contract mandatory if Exam contract? Course included in exam contract
Retake possible in case of permanent evaluation? Yes
Teaching Language Dutch
Lecturer Elfride De Baere
Department GE02
Key Words

Genetic control of embryonic development, growth factors, transcription factors, signal-transduction pathways, congenital malformation syndromes, causal genetic defects, genomewide techniques, model systems, functional genomics, epigenetics.

Position of the Course

The embryonic development of a human individual is a complex process, in which genetic, epigenetic and environmental factors are involved. Both environmental and genetic factors determine the development of a cluster of undifferentiated cells (resulting from the zygote) over a period of 12 weeks in a human embryo. In this course, the genetic control of these developmental processes, as well as defects of this control leading to human congenital malformation syndromes, are emphasized.
This course mainly involves state-of-the-art research papers that provide important insights into the role of diverse classes of developmental genes, growth factors, transcription factors, signal-transduction pathways, gene regulation, and epigenetic factors in human developmental processes. The course is focused on findings of genetic research in a wide variety of human congenital malformation syndromes and in transgene/knockout mice and other model systems. Aspects of functional genomics and epigenetics in relation to developmental genetics are covered.


In this course following topics are covered:

1. Families of developmental genes

2. Genetic defects in congenital malformation syndromes

3. Techniques for detection of genetic defects in human disease

4. Animal models in relation to congenital malformation syndromes

5. Research strategies for the study of developmental disorders (a.o. ciliopathies, RAS-MAPK pathway, skeletal anomalies, congenital heart defects, fibroblast growth factors, eye disorders).

6. Functional genomics (gene regulation, miRNA, CNC, ENCODE)

7. Epigenetics (imprinting, methylation)

Starting Competences

Having successfully completed the courses Embryology and organogenesis, Human genetics, Developmental biology, Molecular biology I, Molecular biology II and Human pathogenesis from the bachelor program biomedical sciences, or having acquired the relevant ending objectives by other means.

Final Competences

  • To have insights into normal and aberrant genetic control of human developmental processes.
  • Being able to formulate a concept on a congenital malformation syndrome or a human developmental anomaly.
  • To be able to verify a personally formulated concept via the relevant scientific literature.

Teaching and Learning Material

Dutch syllabus, scientific papers (english), slides available on Minerva (NL, ENG).


  • State-of-the-art articles

Course Content-Related Study Coaching

Interactive support during courses, and via e-mail and Minerva.

Teaching Methods

Classroom lectures

Evaluation Moments

Evaluation during examination period

Evaluation Methods

During examination period: written closed-book exam

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