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This subject focuses on several key areas in contemporary human genetics: mutation in humans and its molecular basis; polymorphisms; selection and its consequences; gene mapping; strategies for identifying genes which cause human disease; the molecular basis of genetic diseases; genetics of cancer and ageing; the Human Genome Project and its applications; screening for genetic diseases; genetic counselling, human cytogenetics and gene environment interactions. Ethical issues will be discussed in context in various sections of the course.
Intended learning outcomes
Upon completion of the subject, students should have: appreciated the importance of genes in influencing human health, disease and evolution; recognised ways in which environmental factors may modify the effects of genes; understood the basic techniques and concepts of molecular genetics and human genomics which permit findings at the DNA level to be related to phenotype; appreciated the ethical issues raised by the application of molecular techniques to human variation; developed skills in use and application of methods of gene mapping and linkage in humans.
Completion of this subject is expected to enhance the generic skills of a student in: the ability to read relevant literature and be able to interpret this in order to answer detailed questions on both theory and methodology; the ability to understand how new scientific data relevant to the human condition is acquired and applied to old and new problems in society; an appreciation for how modern knowledge in human biology is relevant to an understanding of our past and future; the ability to use information technology to acquire relevant knowledge; the ability to think clearly about the application of scientific principles to the consideration of ethical issues.
Last updated: 5 June 2022