BMS3010 : Genetics of Common Disease

  • Offered for Year: 2015/16
  • Module Leader(s): Dr Peter Donaldson
  • Owning School: Biomedical Sciences
Semester 1 Credit Value: 20
ECTS Credits: 10.0


•To consider the principle that nearly all human disease has a genetic component.

•To consider the principle that common disease do not fit into simple Mendelian patterns of inheritance but fall into the category of disease genetists term “complex disease”.

•To consider how the genetic (heritable) component of a complex disease (CD) can be assessed and how genes responsible for CD can be identified.

•To explain how knowledge of the genetics of CD is/and will be used in: diagnosis, patient management (determining prognosis and selection of optimal therapy) and in the development of new therapies.

•To consider the relationship between inherited variation in the genes that regulate the human immune response (especially the major histocompatibility complex) and disease risk.

•To consider the role of inherited variation in the genes and drug metabolism (pharmacogenetics).

•To explain how knowledge of disease genetics informs the debate about disease pathogenesis.

•To provide an understanding of the genetic basis of common human diseases with particular examples: Hirschprung’s Disease, Inflammatory Bowel Disease (Ulcerative Colitis and Crohn’s disease), Autoimmune Diseases: (including: Insulin Dependent Diabetes Mellitus; Rheumatoid Arthritis; Autoimmune liver disease & Systemic Lupus Erythematosus), Infectious Diseases: (including Hepatitis C virus, HIV-AIDS, TB, Leprosy & Malaria), Cancer: Breast Cancer.

•To consider 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
•Immunogenetics and 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 ActivitiesLecture241:0024:00N/A
Scheduled Learning And Teaching ActivitiesSmall group teaching21:002:00Tutorial
Scheduled Learning And Teaching ActivitiesSmall group teaching21:002:00Seminar
Guided Independent StudyIndependent study1721:00172:00Independent study
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 students understanding of key principles on which the taught material is based and basic numeracy. The seminars provide 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 Examination1202A80Unseen examination (2 essays from a choice of 6)
Other Assessment
Description Semester When Set Percentage Comment
Written exercise1M20Critique of current primary literature (1000 words)
Assessment Rationale And Relationship

The examination provides evidence of knowledge and understanding of the topics. The critique of a scientific paper tests the analytical and research skills of the students.

FMS Schools offering Semester One modules available as ‘Study Abroad’ will, where required, provide an alternative assessment time for examinations that take place after the Christmas vacation. Coursework with submissions dates after the Christmas vacation will either be submitted at an earlier date or at the same time remotely.

The form of assessment will not vary from the original.

Reading Lists


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