BMS2042

Human genetics

(MED)

Dr K Bailey (Biological Sciences)

6 points + 3 lectures and 3 hours practical (or equivalent) per week + Second semester + Clayton + Prerequisites: BMS1062 + Prohibitions: GEN2041 and GEN2052

Synopsis: This subject 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.

Assessment: Examination: 50% + Continuous assessment: miniquizzes, laboratory reports and oral presentation: 35% + Essay: 15%