Fundamentals in Human Genetics and Genomics
| Module title | Fundamentals in Human Genetics and Genomics |
|---|---|
| Module code | HPDM082A |
| Academic year | 2025/6 |
| Credits | 15 |
| Module staff | Dr Jon Locke (Convenor) |
| Duration: Term | 1 | 2 | 3 |
|---|---|---|---|
| Duration: Weeks | 8 | 0 | 0 |
| Number students taking module (anticipated) | 50 |
|---|
Module description
This module will start by covering the fundamentals of nucleic acid structure and function, including changes during the cell cycle. Following this you will learn the fundamentals of gene expression and its relationship to the architecture of genes and the genome. Next you will be introduced to the fundamentals of genomic variation, including the various ways in which it can be classified and its frequency. Lastly you will use what you have learnt to enable interpretation of genotype and/or phenotype information for prediction of disease risk, presentation and/or mechanisms.
Module aims - intentions of the module
This module aims for you to gain a fundamental understanding of DNA structure, function, and variation, and recognise its importance to human health and disease. This module will prepare you for further modules in genomic medicine that enable a deeper exploration of how genomic information can be used to improve healthcare, medicine, and our biological understanding of human diseases.
Intended Learning Outcomes (ILOs)
ILO: Module-specific skills
On successfully completing the module you will be able to...
- 1. Describe the structure and function of nucleic acids and chromosomes, including during the cell cycle
- 2. Discuss the process of gene expression in humans and its relationship to the architecture of genes and the genome
ILO: Discipline-specific skills
On successfully completing the module you will be able to...
- 3. Discuss the classification and frequency of variation present in human genomes
- 4. Analyse genotype and/or phenotype information to infer disease mechanisms and predict disease risk and presentation
ILO: Personal and key skills
On successfully completing the module you will be able to...
- 5. Communicate accurately and effectively with peers, tutors, and the public.
- 6. Learning independently as part of a commitment to continuing professional development.
Syllabus plan
Whilst the module's precise content may vary from year to year, an example of an overall structure is as follows:
- Structure and function of nucleic acids and chromosomes
- The cell cycle, mitosis, meiosis, and recombination
- Gene and genome structure and expression
- Classification and frequency of genetic variation
- How genetic variation causes disease
- Correlation of genotype with phenotype
Learning activities and teaching methods (given in hours of study time)
| Scheduled Learning and Teaching Activities | Guided independent study | Placement / study abroad |
|---|---|---|
| 18 | 132 | 0 |
Details of learning activities and teaching methods
| Category | Hours of study time | Description |
|---|---|---|
| Scheduled Learning and teaching activities | 18 | Lectures and workshops (on-campus or online) |
| Guided independent study | 10 | Tutor guided online discussion forum |
| Guided independent study | 10 | Online quizzes and feedback |
| Guided independent study | 30 | Preparing for exam |
| Guided independent study | 82 | Independent guided literature research |
Formative assessment
| Form of assessment | Size of the assessment (eg length / duration) | ILOs assessed | Feedback method |
|---|---|---|---|
| Online quizzes | Weekly | 1-6 | Written |
| Short Answer Question (SAQ) exam | 2 hours | 1-6 | Written |
Summative assessment (% of credit)
| Coursework | Written exams | Practical exams |
|---|---|---|
| 5 | 95 | 0 |
Details of summative assessment
| Form of assessment | % of credit | Size of the assessment (eg length / duration) | ILOs assessed | Feedback method |
|---|---|---|---|---|
| Contribution to online discussion forum | 5 | 5 substantive posts | 1-6 | Written |
| Short Answer Question (SAQ) Exam | 95 | 2 hours | 1-6 | Written |
| 0 | ||||
| 0 | ||||
| 0 | ||||
| 0 |
Details of re-assessment (where required by referral or deferral)
| Original form of assessment | Form of re-assessment | ILOs re-assessed | Timescale for re-assessment |
|---|---|---|---|
| Contribution to online discussion forum | Contribution to online discussion forum | 1-6 | Typically, within ten weeks of the result |
| Short Answer Question (SAQ) Exam | Short Answer Question (SAQ) Exam | 1-6 | Typically, within ten weeks of the result |
Re-assessment notes
Please refer to the TQA section on Referral/Deferral: https://as.exeter.ac.uk/academic-policy-standards/tqa-manual/aph/consequenceoffailure/
Indicative learning resources - Basic reading
Textbooks (all available electronically through University of Exeter library):
- Strachan, T. and Lucassen, A. (2023) Genetics and Genomics in Medicine. Boca Raton, FL: CRC Press.
- Turnpenny, P.D., Ellard, S. and Cleaver, R. (2021) Emery's Elements of Medical Genetics and Genomics. Philadelphia, PA: Elsevier.
- Strachan, T. and Read, A.P. (2019) Human Molecular Genetics. Boca Raton, FL: CRC Press.
Relevant papers will be included within each section of the module
Indicative learning resources - Web based and electronic resources
- ELE2 – https://vle.exeter.ac.uk/course/view.php?id=9120
- Web based and electronic resources:
- Henry Stewart Talks – Introduction to Human Genetics: https://hstalks.com/playlist/281/introduction-to-human-genetics/?biosci
| Credit value | 15 |
|---|---|
| Module ECTS | 7.5 |
| Module pre-requisites | None |
| Module co-requisites | None |
| NQF level (module) | 7 |
| Available as distance learning? | Yes |
| Origin date | 01/12/2015 |
| Last revision date | 23/05/2024 |
