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Alistair Pagnamenta  Dianne Newbury
Pagnamenta.jpg DianeNewburyDSC_0353002.JPG

 

Learning Outcomes:

By the end of this module you will be able to:

1.  Discuss the human genome structure and the properties of DNA 

2.  Critique genome architecture and its variation across human populations 

3.  Critically evaluate the regulation of gene expression, transcription and translation 

4.  Appraise and interpret variation in genome structure and sequence in the context of physiological function and disease 

5.  Discuss and analyse epigenetic modifications and imprinting and its role in disease 

6.  Correlate genetic markers to phenotype and interpret output of association studies both for dichotomous and quantitative traits 

7.  Understand the specifics of cancer genomics including the concepts of subclonality and clonal evolution, cancer predisposition, DNA damage response and signaling pathways

Indicative Content:

  • Architecture of the human genome and genetic variation within it 
  • 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. 1000 Genomes) 
  • Gene regulation: enhancers, promoters, transcription factors, silencers 
  • Epigenetics and imprinting 
  • Mutational mechanisms: how different types of DNA variants affect gene function or expression to cause disease; correlation of genotype with phenotype 
  • Concepts of heterogeneity and pleiotropy 
  • Modes of inheritance for clinical manifestation of human variation