BMS2042

Human genetics ( 6 points, SCA Band 3, 0.125 EFTSL)

Leader: Dr Karen Bailey (Biological Sciences)

Offered:
Clayton Second semester 2006 (Day)

Synopsis: 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.

Objectives: 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.

Assessment: 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

Prerequisites: BMS1062

Prohibitions: GEN2041 and GEN2052