Modiwl MSE-4086:
Human Genetics & Genomics
Human Genetics & Genomics 2023-24
MSE-4086
2023-24
North Wales Medical School
Module - Semester 1 & 2
15 credits
Module Organiser:
David Pryce
Overview
- Architecture of the human genome and genetic variation within it_x000D_
- DNA sequence variation, type and frequency e.g. single nucleotide variants, small insertions and deletions, copy number variation, rearrangements and tandem repeats_x000D_
- How variation arises and its extent in populations (e.g. HapMap)x000D
- Gene regulation: enhancers, promoters, transcription factors, silencers_x000D_
- Epigenetics and imprinting_x000D_
- Mutational mechanisms: how different types of DNA variants affect gene function or expression to cause disease; correlation of genotype with phenotype_x000D_
- Concepts of heterogeneity and pleiotropy_x000D_
- Modes of inheritance for clinical manifestation of human variation_x000D_
- Legislation, Codes of Practise, Caldicott Guardian and Information Commissioner_x000D_
- Patient identifiable data and information, relationship between data and information_x000D_
- Information system risks to patient safety, electronic and paper copies, safe havens, encryption, secondary uses of data, audit and research_x000D_
- Secure information exchange between professionals_x000D_
- Sharing and communication with patients and careers, consent_x000D_
- Handling requests for information about patients /clients_x000D_ x000D x000D x000D
Learning Outcomes
- Appraise and interpret variation in genome structure and sequence in the context of physiological function and disease_x000D_
- Correlate genetic markers to phenotype and interpret output of association studies both for dichotomous and quantitative traits_x000D_
- Critically evaluate the regulation of gene expression, transcription and translation_x000D_
- Critique genome architecture and its variation across human populations_x000D_
- Discuss and analyse epigenetic modifications and imprinting and its role in disease_x000D_
- 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_x000D_
- Discuss the human genome structure and the properties of DNA
- Identify the range, purposes, benefits and potential risks of sharing, integrating and aggregating clinical data and information._x000D_
Assessment type
Summative
Description
Report
Weighting
35%
Assessment type
Summative
Description
Essay or coursework
Weighting
65%