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Science
CASE NOTES
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Tuesday 21:00-21:30
Repeat Wednesday 16:30
Dr Mark Porter gives listeners the low-down on what the medical profession does and doesn't know. Each week an expert in the studio tackles a particular topic and there are reports from around the UK on the health of the nation - and the NHS.
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LISTEN AGAINListen 30 min
Listen to 12 February
PRESENTER
DR MARK PORTER
Dr Mark Porter
PROGRAMME DETAILS
Tuesday 12 February 2008
Cystic Fibrosis

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Cystic Fibrosis

In this edition of Case Notes, Dr Mark Porter looks at cystic fibrosis, the most common genetically inherited life threatening disease in the UK.

His guest in the studio is Andrew Bush, Professor of Paediatric Respirology at the Royal Brompton Hospital, and Imperial College, London.

There are currently around 8,000 children and adults living with cystic fibrosis in the UK, but at least two million of us carry the faulty gene which causes it.

The average life expectancy of a person with cystic fibrosis is 31 - but better treatments mean that babies born now can expect to live longer.

All babies are now routinely screened for cystic fibrosis, but in the past it has been an easy condition to miss.

Mark meets Nick and Toni Callaghan; their son Harry was diagnosed with the disease at the age of three, raising the possibility that his younger brother Jack, who was just eight weeks old at the time, could have the condition too. He did.

Two years on and family life at the Callaghan’s revolves around keeping the boys healthy. They tell Mark how they manage.
 
Sophie Longton found out she suffered from cystic fibrosis at the age of eight.   Now a student at Manchester University, she shows Lesley Hilton how she manages her physiotherapy routine and medication without her parents' support, and explains how she manages to live a full life in spite of her condition.

It's possible that gene therapy could offer hope to cystic fibrosis sufferers.  Scientists hope to identify the faulty genes in a patient's lung and replace it with a correct one.  This should mean they switch to producing normal secretions, instead of the thick sticky phlegm seen in cystic fibrosis.

Professor Eric Alton heads up the work of UK Cystic Fibrosis Gene Therapy Consortium at the Royal Brompton.  He explains exactly how gene therapy works.

Next week: The Liver
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