gsw080 Genetic Diagnostics: from chromosomal aberrations to gene mutations (Vollständige Modulbeschreibung)

Enrolment in Master´s programme Molecular Biomedicine

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.

Competencies:
++ 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

The module focuses on genome- and gene mutations, cyto- and molecular genetics, human syndromes and diseases caused by different chromosomal aberrations.

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

Exercises:
chromosomal stainings, microscopy, karyotyping, identification of chromosomal aberrations, identification of gene mutations

Principles of Clinical Cytogenetics by Steven L. Gersen, Martha B. Keagle

https://uol.de/genetik-gehirnfehlbildungen/forschungsschwerpunkte/

The number of participants for the practical part of this module is limited to 10. If there are more students registered than places available, max. 10 person, w/out any exeptations
Students which are enrolled in Master´s programme Molecular Biomedicine will be preferred.

written examination (90 min., 70%), presentation (30%)
ungraded, but mandatory to take the exam