Within five years an effective treatment for a condition that causes apparently healthy young people to die suddenly from cardiac arrest will be available, it has been predicted.
Typically, the unexpected cardiac arrest might occur to a teenage boy playing a football match, according to Prof William Brammar of Leicester University. The cause is a genetically-inherited condition known as LQT syndrome.
It may be regarded as a rare genetic disorder, but any major hospital is likely to see several such deaths every year, he told the international academic symposium on genetics at Trinity College Dublin.
The condition relates to a defective mechanism for conveying sodium through a special channel in the wall of heart muscle cells. Genetic defects known as mutations cause the channel to operate incorrectly. This, in turn, leads to a lack of synchrony in heart beat and "catastrophic breakdown in the heart's pacemaker functions".
Ironically, though a patient appeared to be perfectly healthy, this syndrome could be easily diagnosed, he said. Resulting defects are immediately detectable in an electrocardiogram, a recording of electrical impulses that immediately precede heart contraction.
A great deal is known about how "ion channels" work and scientists have identified three of the four genes whose activity is linked to the defect. Already, some pharmaceutical companies were looking at compounds that would assist the operation of channels, and help a sodium channel to close once opened, the direct cause of the problem. He expected an effective treatment to emerge within five years.
Sir Walter Bodmer of the Imperial Cancer Research Fund and Oxford University said the genes responsible for the second-most common form of cancer after lung cancer had been identified through impressive advances in genetic research in recent years.
This had increased the chances of preventing colorectal cancer or securing earlier diagnosis of it with more effective treatment. It causes 20,000 deaths in Britain a year, and in many instances is inherited.
Early forms of the cancer appear in the form of bulges known as polyps on the colon's surface which multiply rapidly prior to becoming tumours. His research team, with others, had identified the key trigger in the early biochemical pathway towards cancer.
Prof Bodmer envisaged this research being used to provide genetic counselling for those with a familial link with the cancer. There was a case for some population screening for the cancer.
