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The University of Southampton

Developing gene mapping tools to predict risk

University of Southampton research into the genetic causes of diseases has led to gene mapping techniques and applications benefiting patients worldwide. Our work has improved prediction, diagnosis and treatment for common diseases with a complex genetic basis such as age-related blindness, and provided cost-effective strategies for genotyping DNA samples relevant to humans and animal species. Our work also underpins industry development of individual genetic risk profiling.

Research Challenge

With the race to find the genetic causes of diseases gathering pace the focus has shifted from diseases caused by rare single gene mutations to more common diseases with a complex genetic basis affecting millions of people, such as breast cancer and Type 2 diabetes.


Research at the University of Southampton has centred on developing gene mapping techniques which enable the identification of specific chromosome sections where the causes of diseases lie.

Our Solution

Our researchers firstly proved the principle of fine-mapping genes before developing models for mapping more ‘common’ diseases. Following this we went on to quantify the advantages of case-control versus family-based gene mapping strategies.

Early findings informed the design of a project to construct genome-wide screening panels and, working in collaboration, our research underpinned the commercial development of these panels for cattle.

The many applications of case-control based association carried out by our research team include identification of significant metabolic genes in large birth cohorts and genes causing age-related blindness.

What was the impact?

Southampton’s research has had substantial impact in translational medicine, contributing new ways to predict disease and diagnose and treat patients.

Our body of work has enabled creation of new cost-effective technologies, commercialisation of livestock genomes and development of the personal genomics industry.

The impact of an individual’s genetic makeup is now quantified as risk to develop age-related blindness, which will have significant bearing on the 20% of the population at risk of the disease. At least five commercial genetic testing kits are available with clinical trials of genetic therapy underway.

gene mapping to reduce risk
Genetic maps

Key Publications

List of all staff members in
Staff MemberPrimary Position
Andrew R CollinsProfessor of Genetic Epidemiology and Bioinformatics
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