The Role of new genes in Familial Ascending Aortic Aneurysm

We know from our work in the Sonalee Laboratory that we have achieved a high yield of mutations using our dHPLC Wave machine to analyse the Marfan syndrome gene. The yield at present is 97%, however, 3% of the families refuse to yield their genetic secrets! These families have drawn attention to the fact that there are other genes involved and the first 38 such genes have been identified.

We are at present seeking funding to analyse a group of families with ascending aortic aneurysm who have not demonstrated mutations in the known genes. A pilot study of such families funded by the British Heart Foundation (BHF) and the Marfan Trust has discovered 2 new genes, which are being reported.

We need to establish what contribution this new gene makes in the UK population.

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