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The University of Southampton
Courses

BIOL1027 The Human Genome and Disease

Module Overview

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.

Aims and Objectives

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

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

Syllabus

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.

Learning and Teaching

Teaching and learning methods

Lectures and independent study

TypeHours
Independent Study126
Lecture24
Total study time150

Resources & Reading list

Tom Strachan and Andrew Read (2011). Human Molecular Genetics. 

Assessment

Summative

MethodPercentage contribution
Final Exam  (2 hours) 100%

Referral

MethodPercentage contribution
Final Exam  (2 hours) 100%
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