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Human Genetics

Focus Subject - Human Genetics

You have to choose the theoretical module and the practical module.

TM  Theoretical Module (12 CP)

Human Genetics

Prof. Dr. Bernhard Weber

PM  Practical Module (12 CP)

Human Genetics Prof. Dr. Bernhard Weber

Registration by 30th of June: Dr. Schulz (heidi.schulz@ur.de)

Application to the Human Genetics module - pdf!

TM Human Genetics


Detailed module description - pdf

Prof. Dr. Bernhard Weber

Module contents
Human Genetics I
Comprehensive basic information on modern topics of human genetics with a strong focus on genetic variation in health and disease:
  • Organization of the human genome, gene expression and gene regulation.
  • Causes of Mendelian diseases
  • Cancer genetics
  • Genetics of complex diseases (e.g. functionality of genetic polymorphisms, genome wide association studies, pathway analysis), population genetics, epigenetic mechanisms, pharmacogenetics.
  • Medical genetics including basic principles of genetic counseling and diagnostics.
  • Ethical, legal, and social issues related to genetic testing.
  • Principles of gene therapy (including genome editing) and application of induced pluripotent stem cell technology.
Human Genetics II
This course provides deeper understanding of the impact of molecular biology and genetics on modern medicine and the connection between basic research, medical knowledge and an improved patient management. The concepts will be accompanied by theoretical introductions followed by a guided experimental course.
  • Detailed analysis of human and molecular genetics with particular focus on the variability of the human genome and its impact on the phenotype.
  • Applications in diverse methodologies: linkage analysis, DNA sequencing according to Sanger, fragment analysis, next generation sequencing and DNA diagnostics, cytogenetics, bioinformatics and statistical genetics.
  • Use of model organisms in research and therapeutic approaches: human genetic diseases, individualized medicine, compound screening. Utility and limitations of such approaches.
Human Genetics Seminar
  • Presentation and discussion of a research based topic in the field of Human Genetics
Module components

1. Lectures

  • Humangenetik I
  • Humangenetik II

2. Human genetic literature seminar (for a (LSF 56121)

In the seminar a seminar presentation has to be held and registered in Flexnow as an ungraded study achievement (Studienleistung).

Module examination

30 min oral examination (graded)

PM Human Genetics


Detailed module description - pdf

Prof. Dr. Bernhard Weber (link to research group)

Module contents
  • Standard laboratory techniques in molecular biology and genetics; in-depth experimental applications including standard and advanced methodologies
  • Knowledge of and familiarization with public databases and software relevant to molecular genetics
  • Application of cell culture and animal model systems to address clinically relevant questions
  • Presentation and discussion of own data generated experimentally
  • Communication of scientific results (lectures, posters, protocols)
  • Overview of research areas in human genetics and advanced knowledge of experimental approaches in the field of molecular medical research
Module components

Laboratory course (6 weeks) with seminar: Human Genetics

Module examination

Portfolio examination (graded)

  1. Fakultät für Biologie und Vorklinische Medizin
  2. Studium