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Fundamentals in Human Genetics and Genomics

Module description

This is the first module in the Masters programme; it aims to provide you with an introduction to the key areas of cell biology, genomics, human genetics and genetic variation. It will prepare you to understand disease genetics and how genomic medicine can be utilised to elucidate disease mechanisms and biology. This module will serve as a foundation for those wishing to advance their careers within the NHS in genomic medicine.

Module aims - intentions of the module

This module will provide a clear understanding of the structure and variations in genetic material covering basic genetics and genomics. The first section 'Genome Biology’ will review the role of DNA, RNA and proteins in the cell and the relationship between them, then explore the architecture of the human genome, the functional units embedded in it (enhancers, promoters, introns, exons, untranslated regions) and aspects of gene regulation and epigenetics. The second section ‘Genomic Variation’ will then cover DNA sequence variation – including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs) and chromosomal aneuploidies – and how variation arises and is structured across the genome, explaining the principles of linkage disequilibrium and its extent in human populations. We will also review fundamental concepts in genomic medicine, including modes of inheritance, imprinting, pleiotropy and heterogeneity. 

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

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

• 1. Explain core elements of genome architecture, including the properties of DNA and chromatin structure
• 2. Critically evaluate the regulation of gene expression, transcription and translation
• 3. Interpret variation in genome structure and sequence in the context of physiological function and disease, and across human populations
• 4. Describe the correlation between genotype and phenotype

ILO: Discipline-specific skills

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

• 5. Discuss the range of variation in the genome and its role in disease
• 6. Identify the range, purposes, benefits and potential risks of sharing, integrating and aggregating genomic data and clinical information.
• 7. Critically evaluate the use of genomic data in personalised medicine.

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:

• Architecture of the human genome and genetic variation within it.
• Centre dogma, understanding the relationship between DNA, RNA and proteins
• Gene regulation: enhancers, promoters, transcription factors, silencers.
• DNA sequence variation, type and frequency, e.g. single nucleotide variants, small insertions and deletions, copy number variation, rearrangements and tandem repeats.
• How variation arises and its extent in populations (e.g. ‘HapMap Project’, 1000 genomes project, ExAC/gnomAD).
• Introduction to linkage, linkage disequilibrium and Hardy-Weinberg equilibrium
• Mutational mechanisms: how different types of DNA variants affect gene function or expression to cause disease
• Correlation of genotype with phenotype.
• Epigenetics and imprinting.
• Concepts of heterogeneity and pleiotropy.
• Basic understanding of and familiarisation with genome browsers
• Modes of inheritance for clinical manifestation of human 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

In the event of you failing a module, you will be given a chance to resubmit the failed components that led to the overall module failure. This will normally be within six weeks of the overall module result being known, except in the case of written and/or practical examinations which may take longer to reschedule. The module result will then be capped at 50.

Indicative learning resources - Basic reading

• Read, A. and Donnai, D. (2015). New clinical genetics. Bloxham, Oxfordshire: Scion.
• Turnpenny, P. and Ellard, S. (2012). Emery's elements of medical genetics. Philadelphia: Elsevier/Churchill Livingstone. (electronic access through University of Exeter library)
• Strachan, T., Read, A. and Strachan, T. (2011). Human molecular genetics 4 . New York: Garland Science.
• Strachan, T., Goodship, J. and Chinnery, P. (2015). Genetics and genomics in medicine. New York: Garland Science.

Indicative learning resources - Web based and electronic resources

Henry Stewart Talks – Introduction to Human Genetics:

https://hstalks.com/playlist/281/introduction-to-human-genetics/?biosci

Key words search

Genomics, human genetics, genetic variation, inheritance, mutation