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British Heart Foundation to Provide $1.7M for Genetic Screening of Familial Hypercholesterolaemia

NEW YORK (GenomeWeb) – The British Heart Foundation said today it is funding more than £1 million ($1.7 million) to a genetic testing program for familial hypercholesterolaemia, a condition that can shorten a patient's life by 20 to 30 years if left untreated.

The program being funded by BHF will pay for nurses to screen patients and their family members for the condition. It also will go toward extending such screening services to eight NHS Trusts across England and Scotland, BHF said.

If left undiagnosed FH can lead to cardiovascular disease and sudden death from a heart attack, BHF said, adding that among those diagnosed with the ailment, half of their siblings and half of their children will also have a gene associated with FH and be at risk for early heart disease. Early treatment of FH with statins, along with lifestyle changes and monitoring, can improve a patient's life expectancy to equal that of the general population.

Using a DNA blood test, an FH specialist nurse can identify whether an individual with a clinical diagnosis of FH carries a faulty gene for the ailment. Family members can then be referred for screening. On deadline it was unclear which test is being used for the screening.

BHF Medical Director Peter Weissberg said that the foundation has funded research into FH for more than 20 years, resulting in the identification of genetic underpinnings of the disease. Familial screening for the condition has also proven to be an effective preventative strategy against FH-associated death.

"What we need now is a nationwide, systematic process which will make sure any family in the UK at risk can be tested and help them fight back against FH," Weissberg said in a statement.

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