BMS3010 : Genetics and Human Disease
- Offered for Year: 2024/25
- Module Leader(s): Professor Julie Irving
- Co-Module Leader: Professor James Allan
- Lecturer: Dr Sarah Rice, Professor Heather Cordell, Dr Catherine Meplan, Dr Laura Maringele, Dr Oliver Russell, Professor Deborah Henderson, Professor Ian Hickson, Dr Lindi Chen, Dr Louise Reynard, Professor Quentin Anstee
- Owning School: Biomedical, Nutritional and Sports Scien
- Teaching Location: Newcastle City Campus
- Capacity limit: 85 student places
Semesters
Your programme is made up of credits, the total differs on programme to programme.
| Semester 1 Credit Value: | 20 |
| ECTS Credits: | 10.0 |
| European Credit Transfer System | |
Aims
•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 Activities | Lecture | 20 | 1:00 | 20:00 | PIP |
| Scheduled Learning And Teaching Activities | Small group teaching | 2 | 1:00 | 2:00 | PIP - seminar |
| Guided Independent Study | Independent study | 178 | 1:00 | 178:00 | Writing up lecture notes, revision and general reading |
| Total | 200:00 |
Jointly Taught With
| Code | Title |
|---|---|
| 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.
Assessment Methods
The format of resits will be determined by the Board of Examiners
Exams
| Description | Length | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|---|
| Written Examination | 120 | 2 | A | 70 | Invigilated exam 2 out of 4 essays |
Exam Pairings
| Module Code | Module Title | Semester | Comment |
|---|---|---|---|
| Genetic variation in common disease | 2 | N/A |
Other Assessment
| Description | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|
| Written exercise | 1 | M | 30 | 2 hour invigilated Paper Interpretation Exercise. Max 10 questions. |
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 Winter vacation. Coursework with submission dates after the Winter vacation will either be submitted at an earlier date or at the same time remotely. The assessment format will not normally vary from the original to ensure learning outcomes are met. Any changes to the original format must meet module learning outcomes and be approved by the school.
Reading Lists
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- BMS3010's Timetable