New gene scanning technology marks a major advance in disease research

July 7, 2005

07 Jul 2005 Medical News Today

Gene scanning techniques developed by Professor Ian Day and

colleagues at the University of Southampton are set to have a major

impact on healthcare in the future.

One of two gene mutation scanning techniques devised by Professor Day

and his team in the Human Genetics Division of the University's

School of Medicine has been successfully applied to search for rare

genetic mutations in the population at large.

Their method, called meltMADGE, which combines thermal ramp

electrophoresis with microplate array diagonal gel electrophoresis

(MADGE), enables significantly higher levels of scanning at a

fraction of the cost.

Using the Southampton technique a network of British medical

researchers from the Universities of Southampton, Bristol and

University College London, funded by the UK's Medical Research

Council, British Heart Foundation and Department of Health, studied a

gene which affects blood cholesterol levels. In analyses of nearly

10,000 middle-aged individuals, they found some rare mutations

associated with very high cholesterol, some with moderately high

cholesterol and some with no effect.

This is the first time that it has been possible to find out whether

there may be unknown rare genetic variations in the population which

may cause mild forms of a particular disease or feature in just one

or two individuals, or may even protect them against disease.

Professor Day commented: 'This development enables us to look at the

whole population and find rare and " special " individuals with gene

changes which may have either mild, moderate, severe or protective

disease effects, a bit like the medical equivalent of finding a

needle in a haystack.

'While this approach is currently at the research level, in the

future it could lead to a very personalised genetic profile of a

whole range of genes relevant to lifestyle, health and drug

prescribing, leading to more personalised medicine and screening.'

Professor Day's group is using combinations of meltMADGE and a second

technology called endo VII MADGE to explore variations in the whole

population of disease genes relevant to growth, obesity and

cardiovascular disease.

Cold Spring Harbor Laboratory

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