BMS2042 - Human Genetics

General Unit Information

Genetics lab class

This unit introduces the basic genetic principles underlying modern human genetics. Topics include the identification, characterisation and mapping of human genes; the value of model organisms; the significance of the Human Genome Project; how genes function and how genetic malfunction can lead to genetic disease; how an understanding of such diseases at the molecular level may assist in diagnosis, prevention and therapy; be able to identify patterns of inheritance and gene interactions; genetic counselling and ways of calculating risk of recurrence of a genetic disease; ethical issues relevant to human genetics. Practicals include an introduction to molecular and cytogenetic techniques.


This unit will provide students with an understanding of human genetics as it relates to both biomedical research and clinical practice. On completion students will

  • Be aware of the value of model organisms in human genetic studies
  • Know how human genes and their functions are identified
  • Be able to perform gene mapping analyses and understand the interaction of clinical genetics practice with molecular biological techniques
  • Understand the relationship between cancer, gene and cell regulation, mutation and development
  • Understand the significance of the Human Genome Project and the techniques and strategies involved
  • Appreciate the ethical issues raised be modern human genetics practice
  • Develop skills in the analysis and presentation of data and scientific ideas as well as skills in problem solving and self-directed learning Students will have the background to undertake more advanced studies in genetics at third year level.

Specific Unit Information

NameA/Prof Francine Marques, 

Office location18 Inn (Bld 17) Rm-G30E,    
NameDr Hendrika Duivenvoorden

Office Location25 Rainforest (Bld 18)  Rm - 117
Laboratory Coordinator
NameDr Rosemarie Herbert
Technical coordinator
NameMary Angelopoulos
Office location18 Inn (Bld 17) Rm-337
PrescribedConcepts of Genetics, Klug & Cummings, Pearson,  12th Edition.
Program for 2021
University Handbook Entry

BMS2042 - Synopsis, Assessment & Prerequisites

ScheduleBMS2042 -  Lecture & Laboratory Schedule for  2021
Important links
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