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 association and sequencing technologies that are driving unprecedented discoveries relating to the genetic basis of human disease. We will cover topics including:

• · animals models for human genetic diseases
• · the genetic basis of Mendelian disorders
• · genomic technologies and personalised medicine
• · genetic testing and counselling
• · the genetic basis of complex traits
• · cancer genetics
• · immunogenetics
• · epigenetics

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

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

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

3. describe the latest advances in genomic technologies and their application to personalised medicine

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

5. describe the genetic strategies permitting the immune system to respond to a diverse range of pathogens

6. describe the approaches used to identify the genetic basis of complex traits

7. describe the major types of mechanisms involved in regulating gene expression

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, 2-7 depending on topic)
• Three short assignments on lecture and practical material (10 % each) (LO1, 2-7 depending on practical)
• Final examination to assess students’ understanding (25 % to 45 %) (LO2-7)

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

BIOL2161 required, BIOL2151 is strongly recommended. Incompatible with BIOL2152

BIOL2151 is strongly recommended.