This course focusses on new discoveries in areas of importance to our understanding of human behaviour, evolution and disease.  The course covers the basic principles that underpin the field of human genetics.  We will explore processes of gene mapping and sequencing that comprise the human genome, and the enormous databases that are being generated from this research. The course also places a strong emphasis on the moral, ethical and legal issues surrounding the application of genetic technology to the diagnosis, treatment and eradication of genetic disease; these issues will be addressed in the context of genetic testing and genetic counselling.

 On satisfying the requirements of this course, students will have the knowledge and skills to:

1. be proficient in navigating relevant leterature, web sites and databases for research into human genetics.

2. describe the layout of the human karyotype and the karyological nomenclature used to describe chromosomal rearrangements and the locations of chromosomal markers in chromosomes.

3. explain the behaviour and evolution of the human chromosomes and their involvement in the determination of sex

4. explain the importance of model species to our investigation of basic principles in human genetics.

5. explain the mechanisms of epigenetic inheritance and the role of imprinting in normal inheritance and in human genetic disease, including cancer

6. explain how modern molecular techniques can be used in the diagnosis and treatment of cancer and inherited disease

7. describe and appreciate the duties, responsibilities and challenges facing professionals whose role is bridging the gap between geneticists and the general public

8. identify and analyse the ethical issues and dilemmas raised by modern genetic techniques used for screening and fertility treatment in humans

Assessment will examine proficiency in individual research, understanding of the theory and laboratory work. A sliding scale permits students to focus on areas of interest by designating the weight to be assigned to different items of assessment.

• Research essay (3500 word) on the current state of knowledge and recent advances in an area of human genetics of specific interest to the student (25 % to 45 %) (LO1, 2-6 depending on topic)
• Three short assignments on lecture and practical material (10 % each) (LO1, 2-6 depending on practical, 7,8)
• Final examination to assess students’ understanding (25 % to 45 %) (LO2-8)

Two to three lectures per week, practicals and tutorials; total workload 55-60 contact hours in semester.

BIOL2151 required, BIOL2161 is strongly recommended. Incompatible with BIOL2152