BMS3010 : Genetics and Human Disease
- Offered for Year: 2019/20
- Module Leader(s): Professor Julie Irving
- Lecturer: Professor Derek Mann, Professor Quentin Anstee, Professor John Loughlin, Professor Heather Cordell, Dr Catherine Meplan, Dr Daryl Shanley, Dr Oliver Russell, Dr Debra Bevitt, Dr Felicity May, Dr Lindi Chen, Professor Mark Walker
- Owning School: Biomedical, Nutritional and Sports Scien
- Teaching Location: Newcastle City Campus
Semester 1 Credit Value:
•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 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 provide an understanding of the genetic basis of common human diseases with particular examples: Autoimmune Diseases: (including: Insulin Dependent Diabetes Mellitus; Rheumatoid Arthritis; Autoimmune liver disease & Systemic Lupus Erythematosus), Infectious Diseases: (including Hepatitis C virus, HIV-AIDS & Malaria), Cancer: Breast Cancer; 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
•Immunogenetics and pharmacogenetics
•Knowledge of key examples of complex diseases.
•Social and Ethical issues arising from the study of complex diseases.
|Scheduled Learning And Teaching Activities||Lecture||21||1:00||21:00||N/A|
|Scheduled Learning And Teaching Activities||Small group teaching||2||1:00||2:00||Seminar|
|Guided Independent Study||Independent study||177||1:00||177:00||Independent study|
Jointly Taught With
|BGM3061||Genetic 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.
The format of resits will be determined by the Board of Examiners
|Written Examination||120||2||A||80||Unseen examination (2 essays from a choice of 4)|
|BGM3061||Genetic variation in common disease||1||N/A|
|Written exercise||1||M||20||Timed Essay (1 Hour)|
Assessment Rationale And Relationship
The examination provides evidence of knowledge and understanding of the topics. The timed essay tests the discipline knowledge and writing skills under time constrained conditions.
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.