MEDC0085 The genetics and epigenetics of diseases

Module Title

Precision medicine has three essential attributes:

1)            A mechanistic understanding of the aetiology and pathogenesis of disease. 

2)            The ability to detect (diagnose in the clinical laboratory) specific causal factors.

3)            The ability to specifically treat the underlying cause(s)

The module will cover these three attributes.

Genetic and epigenetic diseases covering the different modes of inheritance and de novo mutations with their molecular mechanisms. Mendelian autosomal recessive, autosomal dominant, X-linked, mitochondrial, polygenic and epigenetics. Examples in infectious diseases and cancer. Link to diabetes will be covered in later modules.

Syllabus

• Principles and techniques
• Modes of inheritance
• Diagnostics, omics and phenotyping.

Learning Outcome

• Have acquired a knowledge base of the main principles underpinning Mendelian genetic inheritance of disease, such as the effect of specific mutations.
• Understand the basis of epigenetics and how it impacts on gene function.

• Be able to utilise the taught information on genetics and epigenetics to understand disease mechanisms.

• To utilise this knowledge of disease mechanisms to understand how modern medicines can be chosen in a logical patient-specific way.