Human Genetics has undergone a tremendous expansion in recent years, in no small measure due to a wide- ranging technological revolution. Results from this research are having a dramatic impact across a range of disciplines, including medicine, biology, anthropology and forensics.

This module introduces the basic principles underlying modern human genetics research through a combination of lectures presenting theoretical principles, practical exercises allowing you to apply these principles, and more research-focused lectures providing illustrative case-studies.

The aim of this module is to introduce you to the approaches currently used identify genetic factors in health and disease. You will become familiar with concepts and methods such as complex traits, population studies, Genome-Wide Association Studies (GWAS) and high through-put genome analysis.

Case studies will include the genetic basis of cancer, selected cardiovascular and psychiatric disorders, as well as genetic predisposition/resistance to infectious diseases. Four practical sessions provide some hands-on exposure to the methodology presented in the lectures.

Learning Objectives

The aim of the module is to provide a broad understanding of modern human genetics, including in its historical and ethical dimensions. Specifically, students will be provided with the necessary material and tools to develop a deep understanding of the following aspects of human genetics.

History of human genetics
	Understanding the human genome
	Global human genetic variation and its geographic apportionment
	The genetic basis of Mendelian disorders The genetic basis of Complex Disorders
	Human genetic variation in health and disease Predicting phenotypes from human genomic data Ethics of human genetics and genetic diagnostics
Indicative lecture topics – based on module content in 2021/22

Genes, genomes and phenotypes Linkage Mapping
	Rare diseases and personalised medicine
	Association Studies
	Human population Structure Psychiatric diseases
	Cancer Genetics
	Insights from Ancient DNA Genetics of Infectious Diseases
	Microbiomes in Health and Disease
Please note, the computer practicals for this module will be run remotely (online). The lectures will be in person.