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Supporting Research - improving the understanding of causes of sudden death

Papworth Hospital NHS Trust, Cambridge

The programme SADS UK is funding is focused on understanding the genetic, molecular and physiological basis of abnormalities in the heart rhythm which can lead to sudden death.

Improved treatment of coronary disease has decreased mortality from heart attacks with positive effects on human health. However in the wake of these impressive impacts more patients are presenting with heart rhythm disturbances (cardiac arrhythmias) with one manifestation being the recognition of more cases of sudden cardiac death, including unexplained deaths striking down young healthy people.

Electrogram fractionation: Research question: How good is electrogram fractionation at predicting those patients with hypertrophic cardiomyopathy who are likely to suffer from Sudden Cardiac Death? These studies are followed by a multi-centre trial to see if this technique can be used to predict Sudden Cardiac Death in patients with dilated cardiomyopathy.

The Institute of Medical Genetics, University Hospital of Wales, Cardiff

SADS UK fund research into the care and management of families affected by Sudden Arrhythmic Death Syndrome (SADS) in order to facilitate a co-ordinated approach to managing on-going care and support of families. Thorough assessment of families due to the possible hereditary nature of these conditions is crucial. The Institute of Medical Genetics, clinical genetic services, has a strong role to play in the long-term care of families affected by SADS

Oxford Genetics Knowledge Park, The John Radcliffe Hospital, Oxford

In 2004 SADS UK held a national conference in partnership with the Oxford Genetics Knowledge Park, Cardiac Arrhythmias, Research and Therapy; a holistic approach. Oxford Genetics Knowledge Park research into Sudden Cardiac Death Syndromes (cardiomyopathy and the Long QT Syndrome) and they have some of the most up to date facilities in the country for genetic testing.

Genetic testing is available for a variety of single gene disorders. Families with a particular genetic condition can be referred to their nearest NHS Regional Genetics Centre where genetic counselling and testing can be offered. Testing is now also available for the more complex single gene disorders. It is important to bear in mind that complex diseases arise from multiple genetic and environmental factors.

The genes currently tested account for approx 65-70% of cases.  Although additional causative genes are known these are not routinely tested due to the limitations of current technology.  Oxford GKP are exploring whether next generation sequencing could improve the sudden cardiac death (SCD) testing currently offered in the NHS so that more families with these conditions can be offered genetic testing and cascade screening.

In addition to providing information about the risk of a genetic disease, genetics has the potential to allow doctors to select the treatments which will be most effective for a given patient and produce minimal side effects. This application of genetics to drug therapy is called pharmacogenetics


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