This course will explore areas of human genetics that have been most influenced by technical advances over the last decade, such as human evolutionary genetics, disease diagnosis and cancer genetics. The human genome project and its potential spin-offs will be discussed, and students will be introduced to the human genetic databases. The course will also address the moral, ethical and legal issues surrounding the application of genetic technology to the diagnosis and treatment of genetic disease, as well as genetic testing and genetic counselling.

On satisfying the requirements of this course, students will have the knowledge and skills to access databases dealing with human inherited traits and diseases including OMIM (Online Mendelian Inheritance in Man) and understand explanatory information including chromosomal position, types of mutation, map position, and inheritance. Students will also have a good understanding of the sequence of genetic changes that occur in the development of cancer, and some of the specific mutations involved in the process of carcinogenesis. Students will also be able to draw and understand pedigrees and their significance in the field of genetic counselling. Specific expected learning outcomes include:

1. How to use and understand the National Institute of Health's OMIM website
2. Development of an understanding of the layout of the human karyotype and use appropriate nomenclature to describe positions of genetic markers on chromosomes
3. Familiarity with the processes of sex determination, and the evolution and phylogenetic affinities of the human sex chromosomes
4. An understanding of the role of imprinting and other epigenetic processes in normal inheritance and in human genetic disease
5. A general understanding of the duties and responsibilities of genetic counsellors, and other professionals involved in bridging the gap between geneticists and the general public
6. Recognition of the ethical and moral issues and dilemmas of using modern genetic techniques for screening and fertility treatment in humans

Assessment topics will include theory presented in lectures and data generated during lab practical sessions. A sliding scale permits students to designate how much weight is given to different items of assessment. Assessment is based on:

• Research essay on an area of human genetics of specific interest to the student allows specialisation in this rapidly-moving field, and allows students to develop research skills in navigating relevant literature, web sites and databases (25%-45%; LO 1-6)
• 3 take-home quizzes on lecture and practical material (10% each; LO 1-6)
• Final exam to assess students' understanding of the basic principles that underpin the field of human genetics (25%-45%; LO 1-6)

39 hours of lectures and 12 hours of practicals/tutorials

BIOL2151 or BIOL2161.