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Epigenetics in Human Health and Diseases

Module description

This module is available either via blended learning with contact days on-campus, or as fully distance learning via our online platform. There may be some variation in scheduled teaching and learning activities depending on your mode of study. 

The field of epigenetics (the regulation of gene expression without change in the DNA sequence) provides a mechanism for the interaction of the genome with environmental exposures. This module will provide you with a solid foundation in understanding a) the role of the epigenome in health and disease and b) how the epigenome changes with age and in response to a plethora of environmental and psychosocial factors. In addition, you will explore the relationship between the genome and the epigenome in the context of human disease, thus providing you with a foundation to advance your knowledge in genomic medicine. During this module, you will hear from experts in the field of complex diseases epigenetics-providing a bespoke research-inspired, enquiry-led learning experience.

Module aims - intentions of the module

This module will provide an in-depth understanding of the structure (e.g. DNA methylation, histone modification and chromatin remodelling), function (regulation of gene transcription) of the epigenome and its relationship to the genome.  Covering basic epigenetics principles, it will prepare you to understand the role of epigenetic variation in health and disease and how epigenomic information can facilitate discovery of underlying disease mechanisms. The malleable nature of the epigenome in response to aging and environmental factors will be critically evaluated and potential pitfalls in current epigenetic research will be discussed.  The next part of the module will focus on how the field of epigenomics is currently applied in the diagnosis, treatment and monitoring of certain cancers (e.g. prostate cancer). The final part of the module will compare and contrast the different genomic technologies and bioinformatics techniques used to interrogate the epigenome in the context of human health and disease.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

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

• 1. Explain in detail the structure and function of the human epigenome.
• 2. Understand and interpret epigenomic variation in the context of human disease.
• 3. Critically evaluate the influence of ageing and environmental factors on the human epigenome.
• 4. Discuss and evaluate how the field of epigenomics is currently applied in the diagnosis, treatment and monitoring of certain cancers.
• 5. Compare and contrast the different genomic technologies and bioinformatics techniques used to interrogate the epigenome and its role in human health and disease.

ILO: Discipline-specific skills

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

• 6. Describe and evaluate the role of epigenetic research in progressing our understanding of both rare and common human disease (e.g. imprinting disorders, brain disorders and cancer).
• 7. Explain an Epigenetics in Human Health and Diseases summarise key challenges in epigenetic research and its application to human disease.

ILO: Personal and key skills

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

• 8. Critically reflect on personal practice and make connections between known and unknown areas, to allow for personal development, adaptation and change.
• 9. Respond to innovation and new technologies and be able to evaluate these in the context of best practice and the need for improved service delivery and/or improved research performance.
• 10. Communicate accurately and effectively with peers, tutors and the public.

Syllabus plan

Whilst the module's precise content may vary from year to year, an example of an overall structure is as follows:

• The epigenome - the biology concerto in our cells:

  • Epigenetic modifications (DNA methylation, histone modification, chromatin remodelling, non-coding RNAs).

  • Cellular maintenance of the epigenome.

  • Epigenetic control of gene expression.

  • Epigenetics and development.

  • X inactivation and genomic imprinting.

• Exploring the relationship between the genome and the epigenome:

  • Epimutations.

  • Methylation quantitative trait loci (mQTL).

• Epigenomic plasticity – how aging and environmental factors can alter the epigenome:

  • Epigenetics and ageing.

  • Epigenetics and the environment.

• Epigenetic variation (special focus on DNA methylation) in human health and disease:

  • Monozygotic twins – same genome, different epigenome.

  • Epigenetics and brain disorders.

• The seven plagues of epigenetic epidemiology.

• Controlling for confounders in epigenetic research.

• Cancer epigenetics :

  • Epigenetic biomarkers in cancer.

  • The emergence of epigenetic therapeutics in cancer treatment.

• Interrogating the epigenome – experimental techniques and bioinformatics research tools.

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

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

Indicative learning resources - Basic reading

• Allis, C., Caparros, M., Jenuwein, T. and Reinberg, D. (2015). Epigenetics. Cold Spring Harbour Press

• Mill, J. and Heijmans, B. (2013). From promises to practical strategies in epigenetic epidemiology. Nat Rev Genet, 14(8), pp.585-594.

• Murphy, T. and Mill, J. (2014). Epigenetics in health and disease: heralding the EWAS era. The Lancet, 383(9933), pp.1952-1954.

ELE: http://vle.exeter.ac.uk/course/view.php?id=6151

Indicative learning resources - Web based and electronic resources

Nature Video - Epigenome: The symphony in your cells.

http://www.nature.com/news/epigenome-the-symphony-in-your-cells-1.16955

Key words search

Epigenetics, epigenome, DNA methylation, histone modifications