Skip to main content


BGM3061 : Genetic variation in common disease

  • Offered for Year: 2020/21
  • Module Leader(s): Professor Julie Irving
  • Lecturer: Professor Mark Walker, Professor Quentin Anstee, Professor Heather Cordell, Dr Daryl Shanley, Professor John Loughlin, Dr Catherine Meplan
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus
Semester 1 Credit Value: 10
ECTS Credits: 5.0


The module aims to use expertise in common human disease (eg., type II diabetes, osteoarthritis, non-alcoholic fatty liver disease and diseases associated with ageing) to;
•       explore the principle that nearly all human disease has a genetic component and that several common diseases do not fit into simple Mendelian patterns of inheritance but fall into the category of disease genetics termed “complex disease”.
•       consider how the genetic (heritable) component of a complex disease (CD) can be assessed and how genes responsible for CD can be identified and this knowledge used in diagnosis and patient management.
•       consider the role of inherited variation in genes and drug responses (pharmacogenetics).
•       consider how knowledge of disease genetics informs the debate about disease pathogenesis and the social and ethical issues that can arise from the genome project and from the use and misuse of genetics and genetic information.

Outline Of Syllabus

The module covers the following broad issues:

• Definition of complex diseases
• How to identify and assess the heritable component of a complex disease
• Selecting and applying different research strategies
• Linkage versus association analysis
• Pharmacogenetics
• Data Interpretation
• Knowledge of key examples of complex diseases.
• Social and Ethical issues arising from the study of complex diseases

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Scheduled Learning And Teaching ActivitiesLecture111:0011:00Primary method for knowledge transfer
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00Seminar
Guided Independent StudyIndependent study881:0088:00N/A
Jointly Taught With
Code Title
BMS3010Genetics and Human Disease
Teaching Rationale And Relationship

This is an undergraduate module based on an area of research excellence within the University. The module is mostly based on lectures with open discussion of key concepts. The learning outcomes are predominantly knowledge based with key skills in critical evaluation and written communication of that knowledge being assessed. In addition there is assessment of data interpretation which will test the student’s understanding of key principles on which the taught material is based and basic numeracy. The seminar provides the students with an opportunity to have a broad based discussion of some of the major issues in medical science in the presence of their peers.

Assessment Methods

The format of resits will be determined by the Board of Examiners

Description Length Semester When Set Percentage Comment
Written Examination602A80One essay question to be answered from a choice of two.
Exam Pairings
Module Code Module Title Semester Comment
BMS3010Genetics and Human Disease1N/A
Other Assessment
Description Semester When Set Percentage Comment
Essay1M20Timed Essay 1 hour in length
Assessment Rationale And Relationship

The examination tests evidence of knowledge and understanding of the topics. The timed essay tests the discipline knowledge and writing skills under time constrained conditions and as preparation for the final examination.

Reading Lists