Medical Genetics
| Module title | Medical Genetics |
|---|---|
| Module code | CSC2004 |
| Academic year | 2025/6 |
| Credits | 15 |
| Module staff | Dr Sawsan Khuri (Convenor) Dr Tom Laver (Convenor) |
| Duration: Term | 1 | 2 | 3 |
|---|---|---|---|
| Duration: Weeks | 11 |
| Number students taking module (anticipated) | 80 |
|---|
Module description
In this module you will learn that genetics influences all aspects of growth, reproduction, and health. You will appreciate gene inheritance, regulation, and the impact of genetic factors and epigenetic variations is crucial for studying human development and genetic diseases. Molecular pathways altered by genetic variants help identify biomarkers for disease monitoring and treatment development. For example, BRCA1/BRCA2 mutations significantly increase breast cancer risk, with some variants more common in specific ethnic groups. Additionally, some MODY patients can switch from insulin to oral medication. You will also explore the synergy between genomic research and clinical genetics, ethical considerations, and patient perspectives, highlighting the importance of genetic diseases in healthcare. This module provides the foundation from which you may progress to higher modules in Pharmacogenomics and New Therapeutic Targets in Cancer.
Module aims - intentions of the module
Medical genetics begins with scientific research, which translates through clinical practice to touch the lives of patients and families with genetic disease on a daily basis. This module aims to provide a lens through which to view the core aspects of this multidisciplinary subject, describing how and why genetics is important in the development, diagnosis and treatment of disease. You will learn how genetic material is inherited and regulated, which will enable you to understand how genetic variants lead to disease, or to susceptibility to complex diseases and the role of environmental influences. Genetic research and disease interventions often raise challenging ethical questions and considerations, which you will also explore. Overall, the module links clinical genetics practice with internationally leading research strengths at Exeter, to provide a holistic, integrated view of medical genetics from the scientific, clinical and patient perspectives. Assessments will take the form of a case report on a medical genetics disease from integrated perspectives and a short answer question exam.
Graduate attributes:as part of this module, you will develop the key employability skills of communication skills problem-solving and group working skills.
The module aligns with sustainable development goals (SDGs) SDG 3 (Good Health and Wellbeing) ensuring knowledge into physiology and healthy lives along with SDG 1 (No Poverty) and SDG 10 (Reduced Inequalities).
Intended Learning Outcomes (ILOs)
ILO: Module-specific skills
On successfully completing the module you will be able to...
- 1. Explain various types of inheritance and their cellular and molecular basis.
- 2. Describe gene regulation and its impact on disease.
- 3. Discuss the relative contributions of genetics and the environment to disease susceptibility in humans.
- 4. Recognise the role of ethics in the interactions between scientists, clinicians and patients in the context of medical genetics.
ILO: Discipline-specific skills
On successfully completing the module you will be able to...
- 5. Critically appraise molecular, cellular and ethical aspects of current research in human genetics by reference to the literature
ILO: Personal and key skills
On successfully completing the module you will be able to...
- 6. Communicate ideas, principles and theories effectively by written and verbal means to specialist and lay audience
Syllabus plan
Whilst the module’s precise content may vary from year to year, an example of an overall structure is as follows. The module will cover the following topics with reference to the scientist, clinician and patient perspectives:
- Topic 1: Forms of inherited disease (monogenic, polygenic, acquired, imprinted, and epigenetic)
- Topic 2: Cellular and molecular basis of inheritance (genes, genomes, replication, variation)
- Topic 3: Ethical issues and genetic counselling in clinical medical genetics
- Topic 4: Gene expression and regulation (transcription, mRNA processing, non-coding RNA regulation, epigenetics)
- Topic 5: Complex disease and polygenic inheritance (genome-wide association studies, gene-environment interactions)
Topics will be explored by expert-delivered lectures to explain the science, and interactive Arena sessions which involve interviews or facilitated discussions between students, scientists, clinicians and where possible, patients. You will have the opportunity to work together in facilitated sessions where members of the group work actively and collaboratively from a trigger case for each topic to identify concepts for guided independent study. Finally, a Resources workshop will include a Q&A session and an introduction to online databases and resources that are used by genetics researchers and clinical geneticists.
In short, the lectures will give you the facts, the facilitated sessions give you an opportunity to explore those facts in more depth, the Arena allows you to see genetics in the clinic, and the Resources workshops provide an opportunity to check and consolidate your learnings, and explore resources used in the real world that will also be needed for your summative assessments.
This module has been designed for in-person, blended or online learning. Delivery of the sessions could therefore take place in classrooms or online via videos and MS Teams.
Accessibility Statement:
As part of this module you will undertake workshop sessions that are of 2 hrs in duration. Breaks are possible, and students are able to leave the teaching space for short periods. These workshop sessions will be undertaken in pairs or small groups, with students contributing to associated group discussions.
Learning activities and teaching methods (given in hours of study time)
| Scheduled Learning and Teaching Activities | Guided independent study | Placement / study abroad |
|---|---|---|
| 40 | 110 | 0 |
Details of learning activities and teaching methods
| Category | Hours of study time | Description |
|---|---|---|
| Scheduled learning and teaching activities | 6 | Overview Lectures to cover core concepts of each topic, plus a wrap up Lecture. |
| Scheduled learning and teaching activities | 10 | Arena-style multidisciplinary and interactive sessions to allow Patient, Scientist and Clinicians perspective on each topic. |
| Scheduled learning and teaching activities | 12 | Facilitated sessions to explore specific topics for advanced study. |
| Scheduled learning and teaching activities | 12 | Interactive workshop to cover databases and other resources relevant to medical genetics. |
| Guided Independent Study | 70 | Guided independent study to research learning objectives. |
| Guided Independent Study | 20 | Working on formative and summative coursework assessments. |
| Guided Independent Study | 20 | Exam preparation |
Formative assessment
| Form of assessment | Size of the assessment (eg length / duration) | ILOs assessed | Feedback method |
|---|---|---|---|
| Lecturer and facilitator feedback on learnings | Engagement, i.e., attendance and participation in shared discussions during Arena, facilitated sessions and workshops. | 1-6 | Verbal |
| Written summary of chosen case report | 500 words | 1-6 | Written, peer and facilitator feedback |
Summative assessment (% of credit)
| Coursework | Written exams | Practical exams |
|---|---|---|
| 60 | 40 | 0 |
Details of summative assessment
| Form of assessment | % of credit | Size of the assessment (eg length / duration) | ILOs assessed | Feedback method |
|---|---|---|---|---|
| Coursework, a case report on a medical genetics disease from integrated perspectives. | 60 | 2000 words | 1-6 | Written |
| Short Answer Question tests | 40 | Five short quizzes across the term, expected to take 20 minutes each | 1-4 | Written |
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 |
|---|---|---|---|
| Coursework, a case report on a medical genetics disease from integrated perspectives. (60%) | Coursework, a case report on a medical genetics disease from integrated perspectives. (2000 words) | 1-6 | Ref/Def period |
| SAQ tests (40%) | SAQ exam (75 minutes) | 1-4 | Ref/Def period |
Re-assessment notes
Referred coursework is on the same topic.
Deferral – if you miss an assessment for certificated reasons that are approved by the Mitigation Committee, you will normally be either deferred in the assessment or an extension may be granted. If deferred, the format and timing of the re-assessment for each of the summative assessments is detailed in the table above ('Details of re-assessment'). The mark given for a deferred assessment will not be capped and will be treated as it would be if it were your first attempt at the assessment.
Referral - if you have failed the module (i.e. a final overall module mark of less than 40%) and the module cannot be condoned, you will be required to complete a re-assessment for each of the failed components on the module. The format and timing of the re-assessment for each of the summative assessments is detailed in the table above ('Details of re-assessment'). If you pass the module following re-assessment, your module mark will be capped at 40%.
Indicative learning resources - Basic reading
- ‘Emery’s elements of Medical Genetics’ (2017) Peter Turnpenny and Sian Ellard
- ‘Genetics and Genomics in Medicine’ (2023) by Tom Strachan, Judith Goodship and Patrick Chinnery (ISBN-13: 978-0815344803)
Indicative learning resources - Web based and electronic resources
- Module ELE page containing formative quizzes and access to on-line learning resources – PubMed
Indicative learning resources - Other resources
Medical genetics databases, review articles and primary research publications
| Credit value | 15 |
|---|---|
| Module ECTS | 7.5 |
| Module pre-requisites | BIO2089 Molecular Biology of the Gene and BIO1334 Genetics. |
| Module co-requisites | None |
| NQF level (module) | 5 |
| Available as distance learning? | No |
| Origin date | 19/08/2014 |
| Last revision date | 29/01/2025 |
