PHPS40880 Intro to Genetic Epidemiology

Academic Year 2022/2023

The aim of this module is to give an introduction to genetic epidemiology, in terms of the principles of genetics and to genetic epidemiologic study design, with particular reference to case studies in the field of human medical genetics. The concepts underlying the heritability of traits and measurement of heritability will be covered. The biological and epidemiological principles underlying study designs for the mapping of genes will be explained, with particular emphasis on the genetic architecture of disease: common-disease/common variant, and rare disease / rare variant models will be explored. The role and mechanisms of gene-environment interactions in health and disease, and complex genetic architecture encompassing genetic heterogeneity and epistasis will be explored with reference to case studies from the literature.

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Curricular information is subject to change

Learning Outcomes:

On completion of this module students will be able to:
• Understand the fundamental genetic and epidemiological principles of this field, and demonstrate knowledge and application of the study designs particular to this field
• Distinguish from primary literature the range of possible genetic architectures which underlie a trait or a disease
• Use a wide variety of phenotype, genetic sequence, genetic variant, and clinical genetic databases
• Identify potential confounders of associations between genes and traits or diseases
• Appreciate the role and possible mechanisms by which genetic and environmental risk factors can interact to increase risk of disease

Student Effort Hours: 
Student Effort Type Hours
Specified Learning Activities


Autonomous Student Learning








Approaches to Teaching and Learning:
This module consists of an online distance course in genetic epidemiology for human genetic researchers. The predominant modes of delivery are short video segments and guided and self-directed reading. Active learning is encouraged through formative asynchronous group discussions online, formative guided exercises and formative self-assessments with feedback. Cumulatively the students work towards a final summatively assessed literature review, drawing together all the strands they have learned over the trimester. 
Requirements, Exclusions and Recommendations

Not applicable to this module.

Module Requisites and Incompatibles
Not applicable to this module.
Assessment Strategy  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade
Project: A practical exercise in navigating online genetic databases and resources. Varies over the Trimester n/a Standard conversion grade scale 40% No


Assignment: An essay review of the extant literature, bringing in all elements learning during the course of the trimester. Coursework (End of Trimester) n/a Standard conversion grade scale 40% No


Carry forward of passed components
Remediation Type Remediation Timing
Repeat Within Two Trimesters
Please see Student Jargon Buster for more information about remediation types and timing. 
Feedback Strategy/Strategies

• Feedback individually to students, on an activity or draft prior to summative assessment

How will my Feedback be Delivered?

Draft assignment feedback will be given, on request from the student.