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BMS2042 - Human genetics

6 points, SCA Band 3, 0.125 EFTSL

Undergraduate Faculty of Medicine, Nursing and Health Sciences

Leader: Dr Coral Warr (Biological Sciences) and Dr Heather Verkade (Biological Sciences)


Clayton Second semester 2007 (Day)


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; the roles of gene regulation and mutation in cancer; 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;

  1. be aware of the value of model organisms in human genetic studies;
  2. know how human genes and their functions are identified;
  3. be able to perform gene mapping analyses and understand the interaction of clinical genetics practice with molecular biological techniques;
  4. understand the relationship between cancer, gene and cell regulation, mutation and development;
  5. understand the significance of the Human Genome Project and the techniques and strategies involved;
  6. appreciate the ethical issues raised be modern human genetics practice; and
  7. 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.


Examination: 50%
Continuous assessment: mini-quizzes, laboratory reports and oral presentation: 35%
Essay: 15%

Contact hours

3 lectures and 3 hours practical (or equivalent) per week




Must be enrolled in course code 2230; 2341; 3356; 3528; 3804; or 3879.


GEN2041 and GEN2052