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

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.

written examination (90 min., 70%), presentation (30%)
additionally ungraded: signed lab protocols