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Medical Genetics

Module description

Genetics influences both risk and outcome of disease. An understanding of how our genes are regulated, and how mutations, genetic variation or epigenetic alterations may contribute to this is of pivotal importance. Identification of mutations that affect gene activity may lead to treatment changes or provide biomarkers for monitoring disease progression; for example, risk of breast cancer is greatly increased by inheritance of a mutated BRCA1 gene, whereas identification of a mutation in patients with maturity-onset diabetes of the young (MODY) allows patients to transfer from insulin treatment onto tablets and allows genetic testing for at-risk family members. 

This is a core module for students studying BSc (Hons) Medical Sciences (Human Genomics). You are required to have completed BIO1334 Genetics or BIO1341 Biochemistry and Genetics in order to take this module. It is an optional module for other students of BSc Medical Sciences and Biological Sciences.

Module aims - intentions of the module

This module aims to give you an insight into how and why genetics is important in the diagnosis and treatment of disease, and allows you to understand the role of genetics in elucidating biological processes. You will focus first on the basics of how genetic material is replicated and curated. Secondly, you will learn how sequence changes can lead to genetic disease, or to susceptibility to complex diseases. Following this, you will concentrate on the molecular mechanisms by which genes are regulated and the contribution of the environment, and finally you will explore some of the ethical issues that surround modern medicine in the genomic era. The module will link with clinical practice and research strengths at CMH to build on fundamental molecular biology knowledge in order to understand inheritance patterns, genetic risk and non-inherited genetic disease and provide a holistic view of medical genetics from the science, clinical and patient perspectives.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

On successfully completing the module you will be able to...

• 1. Describe in some detail and discuss the cellular and molecular basis of inheritance
• 2. Explain the differences between acquired, monogenic, polygenic and epigenetic disease
• 3. Explain the different mechanisms by which genes are regulated in humans
• 4. Discuss the contribution of genetics and environment to disease processes in humans
• 5. Show awareness of, and discuss the ethical issues in modern genetics
• 6. Discuss with examples the importance of interaction between patients, scientists and clinicians

ILO: Discipline-specific skills

On successfully completing the module you will be able to...

• 7. Demonstrate knowledge in Molecular and Clinical Genetics by written and verbal means
• 8. Describe essential facts and theory in depth for a sub-discipline of medical sciences
• 9. Critically appraise molecular, cellular and ethical aspects of current research in human genomics by reference to the literature

ILO: Personal and key skills

On successfully completing the module you will be able to...

• 10. Communicate ideas, principles and theories effectively by written and verbal means to specialist and lay audience
• 11. Develop, with some guidance, a logical and reasoned argument with valid conclusions
• 12. Evaluate and properly manage information derived from the scientific literature, textbooks and the internet.

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: Cellular and molecular basis of inheritance (cell division, mutation, DNA replication and repair), Topic 2: Forms of inherited disease (acquired, imprinted, monogenic, polygenic and epigenetic),

Topic 3: Gene expression and regulation (transcription, mRNA processing, non-coding RNA regulation, epigenetics)

Topic 4: Complex disease and polygenic inheritance (polygenic inheritance, gene; environment interactions)

Topic 5: Genetic counselling and ethical issues in modern genetics.

Topics will be explored by expert-delivered lectures,either in person or online, and interactive ‘Arena’ sessions which involve recorded interviews or facilitated discussions between students, scientists, clinicians and where possible, patients, in relation to each topic. You will work together in facilitated structured small group learning (SSGL) sessions (approximately 10 per group) where members of the group work actively and collaboratively from a trigger case for each topic to identify concepts for guided independent study. The trigger case will not be linked to the Arena case, but will share concepts. Finally, a Resources session will take the form of an interactive large group Q&A session using mobile or other online polling techniques to highlight areas in need of further exploration, and include an introduction to online tools and resources that reinforce the learnings and will be needed for the assessments. This module is assessed through an engagement grade (10%), an SAQ open book exam (45%) and a 1500 word case study essay (45%). 

In short, the lectures will give you the facts, the SSGLs give you an opportunity to explore those facts in more depth, the Arena allows you to see genetics in the clinic, and the resources sessions provide an opportunity to check and consolidate your learnings,  and gain context and resources that will be needed for both the exam and the essay summative assessments. 

This module has been designed for in person, blended or online learning. We will make use of flexible delivery options, including classroom, videos, whiteboard apps and MS Teams, as dictated by circumstances.

Learning activities and teaching methods (given in hours of study time)

Details of learning activities and teaching methods

Formative assessment

Summative assessment (% of credit)

Details of summative assessment

Details of re-assessment (where required by referral or deferral)

Re-assessment notes

Referred case reports are on the same topic.

Re-assessment of Engagement in SSGLs and resources sessions will only be needed if a student misses 7 or more sessions, and will be through written answers of three questions on each session missed that will be set by the module leads and assessed by the facilitators.

Please also refer to the TQA section on general Referral/Deferral guidelines: http://as.exeter.ac.uk/academic-policy-standards/tqa-manual/aph/consequenceoffailure/

Indicative learning resources - Basic reading

      These textbooks are all available electronically through the University Library 

• The gene : from genetics to postgenomics / Hans-Jörg Rheinberger and Staffan Müller-Wille ; translated by Adam Bostanci ; revised and expanded by the authors
• Medical and Health Genomics/ edited by Dhavendra Kumar, Stylianos Antonarakis
• Essentials of Medical Genomics/ By Stuart M. Brown, John G. Hay, Harry Ostrer
• ‘Emery’s elements of Medical Genetics’ by Turnpenny and Ellard (ISBN: 9780702029172)

ELE – College to provide hyperlink to appropriate pages

Indicative learning resources - Web based and electronic resources

Cochrane reviews: http://www.cochrane.org/cochrane-reviews

Pubmed/MedLine: http://www.ncbi.nlm.nih.gov/pubmed

Indicative learning resources - Other resources

Review articles and primary research publications

Key words search

Medical Genetics, Human genetic disease, Disease mechanisms, Gene regulation, Cancer, Ethical issues.