Academic Leads: Prof. Ferenc Mueller and Dr. Richard Tuxworth

Credits: 15

Attendance: Teaching delivered as a five-day block (Monday-Friday, 09:30-17:30)

Module dates: 12-16th March 2018

Learning hours: 150 hours – teaching and private study

This module will provide clear understanding of the structure and variations in genetic material. Covering basic genetics and genomics, it will prepare participants to understand the role of genetics in disease and how genomic information can be utilised to elucidate disease mechanisms and biology.

The first section ‘Genome Structure & Sequence variation’ will review the architecture of the human genome and the functional units embedded in it, for example enhancers, promoters, coding exons, untranslated regions, etc. It will then cover DNA sequence variation (e.g. single nucleotide variants (SNVs), insertions and deletions, copy number variants (CNVs) and how variation is structured across the genome, explaining the principles of linkage disequilibrium and its extent in human populations (HapMapproject).

The next part ‘Biology of Genomes’ will cover in more detail aspects of gene regulation (enhancers, promoters, transcription factors, silencers) and chromatin structure (histone modifications; DNase-I hypersensitive sites, open chromatin). It will then discuss genetic control of functional elements introducing the basic principles of quantitative trait loci (QTL) analyses.

By the end of the module students should be able to:

  • Discuss the human genome structure and the properties of DNA
  • Critique genome architecture and its variation across human populations
  • Critically evaluate the regulation of gene expression, transcription and translation
  • Appraise and interpret variation in genome structure and sequence in the context of physiological function and disease
  • Discuss and analyse epigenetic modifications and imprinting and its role in disease
  • Correlate genetic markers to phenotype and interpret output of association studies both for dichotomous and quantitative traits
  • Discuss and justify the ethical and governance frameworks in place within the NHS and how they apply to medical genomics including patient safety, data sharing and confidentiality
  • Identify the range, purposes, benefits and potential risks of sharing, integrating and aggregating clinical data and information
  • Describe and evaluate the purpose, structures, use and storage of health records

Assessment: The module will be assessed via an extended (3000 word) essay and an exam made up of short-answer questions (essay submission date and exam, typically around five-six weeks after the teaching)