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gsw080 - Genetic Diagnostics: from chromosomal aberrations to gene mutations (Complete module description)
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Module label Genetic Diagnostics: from chromosomal aberrations to gene mutations
Module code gsw080
Credit points 6.0 KP
Workload 180 h
Institute directory Department of Human Medicine
Applicability of the module
  • Master's Programme Molecular Biomedicine (Master) > Clinical Modules
Responsible persons
Owczarek-Lipska, Marta (Module responsibility)
Owczarek-Lipska, Marta (Authorized examiners)
Enrolment in Master´s programme Molecular Biomedicine
Skills to be acquired in this module
Goals of the Module:
to expand the knowledge about classical cytogenetics and molecular genetics as well as modern cyto- and molecular genetics technics applied in clinical diagnostics and research.

++ deepened biological and clinical expertise (cytogenetics and molecular genetics)
++ deepened knowledge of biological working methods and clinical diagnostics (classical cyto- and molecular genetics laboratory methods)
++ data analysis skills
  + interdisciplinary thinking
++ critical and analytical thinking
  + independent searching and knowledge of scientific literature
++ ability to perform independent biological research
  + data presentation and discussion (written and spoken)
  + team work
  + project and time management
Module contents
The module focuses on genome- and gene mutations, cyto- and molecular genetics, human syndromes and diseases caused by different chromosomal aberrations.

essentials of classical cytogenetics and molecular genetics, classification of mutations, genetics syndromes/diseases, introduction to the genetic diagnostic laboratory techniques

chromosomal stainings, microscopy, karyotyping, identification of chromosomal aberrations, identification of gene mutations
Reader's advisory
Principles of Clinical Cytogenetics by Steven L. Gersen, Martha B. Keagle
Language of instruction English
Duration (semesters) 1 Semester
Module frequency Second half of the winter semester
Module capacity 10
Reference text
The number of participants for the practical part of this module is limited to 10. If there are more students registered than places available, lots will be drawn.
Students which are enrolled in Master´s programme Molecular Biomedicine will be preferred.
Modullevel / module level MM (Mastermodul / Master module)
Modulart / typ of module Wahlpflicht / Elective
Lehr-/Lernform / Teaching/Learning method Lecture, Seminar and Exercise
Vorkenntnisse / Previous knowledge basic knowledge of genetics and cell biology
Course type Comment SWS Frequency Workload of compulsory attendance
1 WiSe 14
1 WiSe 14
Practical training
2 WiSe 28
Total time of attendance for the module 56 h
Examination Time of examination Type of examination
Final exam of module
written examination (90 min., 70%), presentation (30%)
additionally ungraded: signed lab protocols