Human genetics/Scientific studies in medical research

Module code


Abbreviated title


Module components

Lectures, practical, seminar


Semesters 2 + 3

(Scientific studies = semester 2, Human genetics = semester 3)

Module coordinator/


E. Hütten

Human Genetics (Human Genetics), IfE (Scientific studies)


Human genetics:  A. Caliebe (Human Genetics)

Scientific studies: W. Lieb (IfE); B. Wittig (guest lecturer)

Contact hours

Lecture Human genetics 2 CH     Practical Human genetics 1 CH

Lecture Scientific studies 1 CH     Seminar Scientific studies 1 CH








Total: 150 h

Lecture Human genetics: 60 h
Attendance time 26 h, preparation 8 h, revision 18 h
Practical Human genetics: 30 h
Attendance time 14 h, preparation 6 h, revision 10 h

Lecture Scientific studies: 30 h

Attendance time 14 h, preparation 4 h, revision 12 h

Seminar Scientific studies: 30 h

Attendance time 14 h, preparation 16 h

Credit points

5 (lecture Human genetics 2 CP, practical 1 CP; lecture Scientific studies 1 CP, seminar 1 CP)



Expected outcome

Knowledge: Students

- are familiar with the essential characteristics of monogenic, polygenic and multifactorial inheritance

- are familiar with common numerical and structural chromosomal aberrations and can describe the respective clinical manifestations

- have a basic understanding of prenatal genetic diagnostics, epigenetic causes for disease development and somatic genetics

- are familiar with the legal requirements regarding the execution of genetic tests

- are familiar with general principles of genetic counselling and have a basic understanding of the guidelines for genetic testing

-can explain the most important features of evidence-based medicine

- are familiar with the various forms of scientific studies and can summarise them (aspects of design, execution, evaluation and interpretation, areas of application)

- can explain the concept, structure and applications of biobanking

- are familiar with the main principles of interpreting scientific studies and can explain them

- are familiar with common statistics software.

Skills: Students

- can develop family trees and define respective underlying inheritance patterns

- can calculate disease risks

- are able to select a suitable type of scientific study for a specific scientific question

- can apply relevant statistics software

- know how to apply data security and ethical standards to studies and biobanks.

Competences: Students

- can interpret simple molecular-genetic and molecular cyto-genetic analyses

- can assess the relevance of clinical studies for medical research and take the complexity of studies adequately into account when analysing their results

- can evaluate studies with regard to their validity for the question at hand.


Human genetics: Cytogenetic, molecular-genetic and molecular-cytogenetic techniques; formal genetics; prenatal genetic diagnostics, epigenetics, somatic genetics, principles of human genetics, legal provisions for genetic counselling and genetic testing.

Scientific studies: Design of and areas of applications for scientific studies and examples (clinical studies, epidemiological studies, biobanks); field reports; basics of study designing, execution and analysis; biobanks (biosample acquisition, organisational structure, technologies, sustainability; national/ international examples); data security aspects in biobanks and clinical studies; ethical aspects (e.g. rights and information of study participants); Good Clinical Practice.

Module evaluation/



Written test for each practical unit (3-4), all tests count in equal parts to form an accumulated grade (Human genetics) [compound exam]

Oral presentation (Scientific studies) [individual exam]

Weight of exam parts for final grade: 50% each

Media used

PPT presentations, textbooks, scientific papers, internet data bases, example experiments.


Human Genetics

Read A, Donnai D, New Clinical Genetics (Scion Publishing 4th edition, 2020)

Strachan T, Read AP, Human Molecular Genetics (Taylor and Francis, 5th edition 2018)

Scientific studies

Current original publications and review articles