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BMS3010 : Genetics and Human Disease

  • Offered for Year: 2023/24
  • Module Leader(s): Professor Julie Irving
  • Lecturer: Professor Quentin Anstee, Professor Derek Mann, Dr Catherine Meplan, Professor John Loughlin, Professor Heather Cordell, Professor Deborah Henderson, Dr Daryl Shanley, Dr Oliver Russell, Professor James Allan, Dr Felicity May
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus
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 diseases do not fit into simple Mendelian patterns of inheritance but fall into the category of disease geneticists 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 evolutionary 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 genes and drug response (pharmacogenetics).

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

•To explain the role of mitochondrial DNA mutation and epigenetics in human disease.

•To consider the role of genetics in congenital disease.

•To provide an understanding of the genetic basis of common human diseases with particular examples: Autoimmune Diseases: (including:Osteo Arthritis; Autoimmune liver disease & Systemic Lupus Erythematosus), , Cancer (including Breast Cancer; and Leukaemia)and those associated with ageing.

•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
•       Evolutionary immunogenetics and pharmacogenetics
•       Epigenetics
•       Mitochondrial genetics
•       Genetics of development
•       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 ActivitiesLecture201:0020:00PIP
Scheduled Learning And Teaching ActivitiesSmall group teaching21:002:00PIP - seminar
Guided Independent StudyIndependent study1781:00178:00Writing up lecture notes, revision and general reading
Jointly Taught With
Code Title
BGM3061Genetic variation in common 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 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 Examination1202A70Invigilated exam 2 out of 4 essays
Exam Pairings
Module Code Module Title Semester Comment
BGM3061Genetic variation in common disease2N/A
Other Assessment
Description Semester When Set Percentage Comment
Written exercise1M30Paper Interpretation Exercise maximum 1000 words. Recommended completion time 2 hours, given 8 hours to submit online.
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.

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.

Reading Lists