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Medical Genetics

Module description

Genetics influences every aspect of our growth, reproduction and health. A deep understanding of how our genes are inherited and regulated, and how genetic variants or epigenetic factors affect gene function, is crucial for understanding normal human development, and the basis of genetic diseases. Knowing how molecular pathways function and are altered by genetic variants is important to identify molecular biomarkers to monitor disease onset and progression, and define new therapies to treat disease. For example, research studies have detailed how breast cancer risk is greatly increased by the inheritance of specific BRCA1 and/or BRCA2 variants, and how some of these variants are more common in certain ethnic groups. Research has also shown that some patients with maturity-onset diabetes of the young (MODY) may transfer from insulin injections onto sulphonylurea tablets taken orally. Thus medical genetics, as practiced today, involves close scientific, clinical and patient interaction. In this module you will explore how genomic research and clinical genetic services work in close synergy to deliver modern diagnostic and clinical genetics services, and discuss some of the ethical challenges and considerations as well as patient perspectives associated with this increasingly important discipline. Genetic diseases are individually rare but in total 1 in 15 people have a rare diseases, making them vital to understand.

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 interdisciplinary 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.

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:

1. Topic 1: Forms of inherited disease (monogenic, polygenic, acquired, imprinted, and epigenetic)
2. Topic 2: Cellular and molecular basis of inheritance (genes, genomes, replication, variation)
3. Topic 3: Ethical issues and genetic counselling in clinical medical genetics
4. Topic 4: Gene expression and regulation (transcription, mRNA processing, non-coding RNA regulation, epigenetics)
5. 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. 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 coursework is on the same topic.

Re-assessment of Engagement will only be needed if a student misses over 50% of the sessions.

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

• ‘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

ELE – 

MedlinePlus: Genetics

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

Indicative learning resources - Other resources

Medical genetics databases, review articles and primary research publications

Key words search

Medical genetics, Human genetic disease, Disease mechanisms, Gene regulation, Inherited disease, Ethical issues.