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April 30, 2010

Genomics News
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» Cascade testing programme for Familial Hypercholesterolaemia initiated across Wales

A cascade testing programme for Familial Hypercholesterolaemia (FH), supported by the British Heart Foundation (BHF) and the Welsh Assembly Government (WAG), is being rolled-out across Wales. The initiative, which was announced by Health Minister Edwina Hart in August 2009, will aim to prevent premature coronary heart disease by diagnosing and treating individuals with FH.

It is estimated that up to 6,000 people in Wales have FH but as many as 4,800 may be unaware they have the potentially life-threatening condition. FH is an inherited condition which causes high levels of cholesterol from birth, and if untreated, leads to coronary heart disease and heart attacks in young adults.

The cascade testing programme will involve health professionals undertaking the screening of family members of those who have been confirmed with having FH after being tested for high cholesterol or heart disease. With lifestyle changes and medication, people with FH can reduce their risk of developing coronary heart disease.

The service is hosted by Cardiff and Vale University Health Board and the recruitment for five new posts (three clinical nurse specialists and two genetic counsellors) to support the programme is now underway. For more information go to the NHS jobs website

To read real life stories from patients, family members and specialist healthcare professionals about how FH can affect everyday lives go to the Telling Stories website and search for familial hypercholesterolaemia.

August 28, 2009

Genomics News
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» ‘Just Growing Pains’: TV documentary on the genetic condition Marfan syndrome

A short documentary called ‘Just Growing Pains’ will be shown on TV over the coming weeks, which follows the lives of families with the genetic condition Marfan syndrome.

The syndrome is an inherited disorder of the body’s connective tissue which affects the heart, eyes and skeleton in painful, disabling and even mortal ways.

The programme will be broadcast on the Community channel (Sky 539/Virgin TV 233/Freeview 87) on September 15th at 9pm.

For more information on Marfan syndrome, go to the Marfan Trust website.