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BGM3061 : Genetic variation in common disease

  • Offered for Year: 2024/25
  • Module Leader(s): Professor James Allan
  • Co-Module Leader: Professor Julie Irving
  • Lecturer: Dr Catherine Meplan, Dr Sarra Ryan, Professor Quentin Anstee, Professor Heather Cordell, Dr Daryl Shanley, Dr Sarah Rice
  • 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:

• Terminologies and concepts used in the study of complex diseases (this will serve as a refresher for the BGM
students, who are advised to attend regardless)
• 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 ActivitiesLecture111:0011:00In person
Scheduled Learning And Teaching ActivitiesSmall group teaching21:002:00In person - Seminar
Guided Independent StudyIndependent study187:0087:00Writing 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 Examination602A701 hour invigilated exam (1 essay from a choice of 2)
Exam Pairings
Module Code Module Title Semester Comment
Genetics and Human Disease2The invigilated exam for BMS3010 is a 2 hour examination (2 essays from a choice of 4)
Other Assessment
Description Semester When Set Percentage Comment
Essay1M302 hour invigilated Paper Interpretation Exercise (PIE). The PIE is delivered and examined simultaneously with BMS3010. Max 10 questions.
Assessment Rationale And Relationship

The invigilated exam 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.

Research paper to be provided online 5-7 days in advance of 2 hour invigilated closed book on-campus assessment. The research paper will also be provided together with the questions during the invigilated in-course assessment.

Reading Lists