Human Genetics

This unit introduces students to concepts and methods in human genetics with a major focus on disease. Advances in human genetics in the last decade have had a major impact on medical science from early diagnosis through to targeted therapies. Fundamental genetic principles will be explored including genome structure, gene regulation, genetic heterogeneity and inheritance. Students will apply their knowledge to the understanding of the molecular mechanisms, diagnosis and screening of both monogenetic and multifactorial disorders.

Learning Outcomes

On successful completion of this unit, students will be able to:

1. Analyse the structure of the human genome and determine the function of its various components;
2. Interpret the molecular processes involved in gene expression, including epigenetics;
3. Articulate the nature of mutations and how genetic instability contributes to mutation;
4. Evaluate molecular defects involved in disease states at the chromosomal or individual gene level;
5. Assess methods used to detect mutations and diagnose genetic diseases.