The Human Genome and Disease

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

• Describe how genetic variation can cause disease and explain how the molecular pathology connects genotype to phenotype
• Explain the meaning of the term ‘epigenome’ and describe epigenetic factors that regulate gene expression
• Describe the biodiversity and function of the gut microbiome and how disruption of these can contribute to human health and disease
• Describe the molecular principles of genetic variation and the functional implications
• Describe genetic approaches to the treatment of disease and the contribution of genetics to the development of therapies
• Describe different patterns of Mendelian inheritance and how family history of disease can be investigated and recorded using pedigrees
• Describe how model organisms can be genetically manipulated to model disease and investigate gene function
• Describe how the human genome is organised and how it has been shaped by evolution

The module covers several major topics in genetics including the molecular principles of genetic variation, different patterns of Mendelian inheritance, epigenetics and genetic evolution within a disease setting. The module will introduce how model organisms can be genetically manipulated to model disease and investigate gene function. Genetic approaches to the development of therapies will be considered.

Lectures and independent study

Summative

This is how we’ll formally assess what you have learned in this module.

Referral

This is how we’ll assess you if you don’t meet the criteria to pass this module.