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.
