Computer technology to find genes that cause malformations

Location: Clinical and Molecular Genetics Department, Institute of Child Health, London, the School of Computing Science, Middlesex University and Department of Biomedical Sciences, University of Edinburgh.
Amount: £70,913
Status: Research completed
Start Date: 1st March 2003
Finish Date: 28th February 2005
Grantholder: Dr C D Evans, PhD, Professor J B L Bard and Dr M Bitner-Glindzicz
Research worker: Dr I Bradford

1 in 40 babies is born with a malformation. Many problems, such as those with the eyes or cleft lip and palate, have a partly genetic cause. Research programmes are generating vast quantities of data but a more effective method is needed to link this information and reveal correlations that can help locate or identify important genes.

This project involves trying to link up databases of genetic abnormalities with information from the Human Genome Project to try to predict which genes might be responsible for malformations. The system will be made freely available to researchers via the World Wide Web. These cutting edge computer techniques should help to identify the faulty genes likely to cause these conditions. In turn, this will facilitate diagnosis of these disorders and improve the advice that can be given to families on whether future generations are likely to be affected. Identifying the genes causing the problems can also be the first step towards finding new treatments.

Left: at three and six months baby Samuel had operations to repair a single cleft in his lip and a double gap in his palate. Right: Samuel fit and well celebrating his second birthday.

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