Not currently offered
Course code



10 units


6000 level

Course handbook


Provides a medium to follow and build on the concepts introduced in Molecular Epidemiology (EPID6440). Where molecular epidemiology assumes that a genetic determinant of disease is present, and has a candidate gene or marker to test, genetic epidemiology seeks to quantitate genetic contribution to disease, estimate the number of genes involved and isolate them.


Not currently offered.

Learning outcomes

On successful completion of the course students will be able to:

1. To familiarise the student with the basic research methods in genetic epidemiology, and

2. To develop an appreciation of the advantages, disadvantages and sources of bias of these basic research methods.


Module 1: Understanding the Disease Part 1: Is there a genetic component? Methods of addressing whether a disease clusters, and whether that clustering is due to genetic effects. Covers lambda, adoption studies, twin studies, migration studies, admixture, and heritability analysis.
Module 2: Understanding the Disease Part 2: How many genes are involved? What is the best genetic model to explain the genetic effects? Covers classical and complex segregation analysis.
Module 3: Gene Discovery Part 1: Linkage and Mendelian Disease. What region of the genome is involved? Covers linkage analysis, pedigrees, and LOD scores for Mendelian disease.
Module 4: Gene Discovery Part 2: Model-free methods and complex disease. What region of the genome is involved? Covers designs for complex disease including concordant and discordant sib pairs, trios, parametric and nonparametric LOD scores, model-free methods and Transmission dysequilibrium test.
Module 5: Gene Discovery Part 3: Quantitative trait loci: What region of the genome is involved? Includes extensions of the above methods for complex traits measured on a continuous scale.
Module 6 - Gene Discover Part 4: Fine mapping. Narrowing down region of the genome with the gene of interest.
Module 7 - Gene Characterisation: Genes at the population level. Once a gene has been identified, its contribution to disease causation at a population level has to be assessed. Designs for this include variations of the case-control and cohort designs. Gene-environment interactions can also be addressed using specific designs, e.g. case-only, countermatching and co-twin design

Assumed knowledge

EPID6440 Molecular Epidemiology

Assessment items

Written Assignment: Essays / Written Assignments