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Medical Genomics

Module description

We now live in an age where sequencing and annotating whole genomes is a reality. The key challenge now centres on the accurate and efficient interpretation of this data, so we can improve our understanding and management of human health and disease. In this module we will focus on exploring the advancements that are being made regarding interpretation of this genomic data, with particular emphasis to medical scenarios. You will gain practical hands-on experience of using the data available, learn how it is generated and how it can be used for patients’ benefit.

This is a core module for students on the BSc Medical Sciences (Human Genomics) pathway.

You should have completed CSC2004 Medical Genetics in order to take this module.

This is an optional module for final year students of BSc Biological Sciences and BSc Medical Sciences.

Module aims - intentions of the module

This module aims to cover the expanding field of human genomics from a medical perspective. We aim to make you aware of the technological advancements that are resulting in the increasing use of genomics in various fields of medicine. We aim to teach you how to utilise genome browsers and databases to interpret genetic variation and understand molecular mechanisms of disease. We aim to engage you in scientific discussion with your peers and our world-leading genomics researchers to inspire and educate you as to the promises and challenges in medical genomics.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

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

• 1. Define a genome, and discuss how it is composed and how it evolved
• 2. Compare and contrast technologies for genome sequencing and manipulation
• 3. Evaluate broad strategies for identifying genetic causes of disease
• 4. Access and manipulate publicly-available genomic data resources
• 5. Explain in detail the role of coding and non-coding DNA in human health and disease
• 6. Understand the role of epigenetic modifications in a clinical context

ILO: Discipline-specific skills

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

• 7. Analyse genetic data in a systematic way including pre-processing, variant prioritisation, results summary and reporting
• 8. Evaluate approaches to our understanding of genetics with reference to primary literature, reviews and research articles

ILO: Personal and key skills

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

• 9. Collect and interpret appropriate data, drawing on a range of sources, with limited guidance
• 10. Devise and sustain, with little guidance, a logical and reasoned argument with sound, convincing conclusions
• 11. Communicate effectively arguments, evidence and conclusions using written means in a manner appropriate to the intended audience
• 12. Manage time effectively and work independently

Syllabus plan

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

You will cover a new topic each week. A case study, video or research article will form the focus of each topic. Each week will start with a 1 hour tutorial with an academic expert, for which students will have undertaken some preparative reading and exercises. The tutorial will explore the issues in depth and generate a series of discussion points. There will also be a 2 hour workshop every week, where students will learn how to analyse genomic data. The workshops will also provide practical experience of interpreting publicly-available genomic data.

Tutorial topics are likely to include:

• Genome composition
• Whole genome sequencing
• Genetic variation
• Mechanisms of human genetic disease
• Clinical genomics
• The non-coding genome
• The mitochondrial genome
• Epigenetics
• Complex disease genomics
• Genetic approaches to therapy
• Journal club

  Workshop Sessions are likely to include:

• Genome browsers
• Making a genetic diagnosis
• Genomics in healthcare
• Non-coding genome analysis
• Epigenetic variation

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

Strachan T. and Lucassen (2022) Genetics and Genomics in Medicine . CRC Press

Strachan T. and Read A. (2019) Human Molecular Genetics . CRC Press

Indicative learning resources - Web based and electronic resources

UCSC genome browser http://genome.ucsc.edu/

Online Mendelian Inheritance in Man http://www.omim.org/

DECIPHER - https://www.deciphergenomics.org

Indicative learning resources - Other resources

None

Key words search

Genomics, Genetics, Epigenetics, Bioinformatics.