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BGM3061 : Genetic variation in common disease

  • Offered for Year: 2023/24
  • Module Leader(s): Professor James Allan
  • Lecturer: Professor John Loughlin, Dr Catherine Meplan, Professor Julie Irving, Dr Sarra Ryan, Professor Quentin Anstee, Professor Heather Cordell, Dr Daryl Shanley
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus

Your programme is made up of credits, the total differs on programme to programme.

Semester 1 Credit Value: 10
ECTS Credits: 5.0
European Credit Transfer System


The module aims to use expertise in common human disease (e.g osteoarthritis, non-alcoholic fatty liver disease, leukaemia 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 ActivitiesLecture101:0010:00In person
Scheduled Learning And Teaching ActivitiesSmall group teaching21:002:00In person - Seminar
Guided Independent StudyIndependent study188:0088:00Writing up lecture notes, revision and general reading.
Jointly Taught With
Code Title
BGM3056Evolution and Genomics
BGM3058Integrated Genetics
BMS3010Genetics and Human Disease
BGM3062Genetics of Development and its Disorders
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 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 Examination602A70Invigilated (1 essay from a choice of 2)
Exam Pairings
Module Code Module Title Semester Comment
Genetics and Human Disease2N/A
Other Assessment
Description Semester When Set Percentage Comment
Essay1M30Paper Interpretation Exercise (PIE). 8hr online (remote) with a max word count of 1000. The PIE is delivered and examined simultaneously with BMS3010.
Assessment Rationale And Relationship

The open book essay provides evidence of key writing skills that allow knowledge and understanding of the topics to be demonstrated along with the ability to integrate this within the context of published material.

The paper interpretation exercise tests the understanding of research literature, discipline knowledge, data analyses, methodologies and critical appraisal abilities.

Reading Lists