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Cystic fibrosis: Queen's University Belfast advance gives hope to Rachael and all those with the condition

Campaigning dad hails cystic fibrosis breakthrough by scientists at Queen's in Belfast

By Victoria O'Hara

Published 14/05/2016

Liam McHugh with daughter Rachel
Liam McHugh with daughter Rachel

The father of young woman with cystic fibrosis (CF) who has raised almost £120,000 to help find a cure says a discovery at Queen's University could bring hope for thousands of people battling the disease.

Liam McHugh, who has run 15 marathons to help raise awareness of the genetic condition and vital funds for charity, was speaking after a team of scientists found a new molecule that has the potential to prolong the life of people with the condition.

Sufferers often die before they reach 40 as mucus from the disease clogs their lungs and airways, risking progressively damaging infections. The breakthrough could mean a future treatment reduces the amount of mucus, making breathing easier.

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Cystic fibrosis: Queen's University Belfast scientists discover molecule that could prolong life of those with the condition  

CF is caused by a faulty gene, and as a result the lungs and digestive system become clogged up by the secretions.

The Cystic Fibrosis Trust-funded work involved a team from Queen's working alongside colleagues at the Royal College of Surgeons in Ireland and the University of North Carolina.

The important advance could reduce the frequency of infections by targeting antiviral drugs at the epithelial sodium channel (ENaC), which controls reabsorption of sodium in the lungs, kidneys and other organs.

Dr Lorraine Martin from the School of Pharmacy at Queen's said: "This is an important finding which could provide a novel therapeutic opportunity relevant to all individuals with CF, as the targeting of ENaC is independent of their underlying CF mutation.

"This strategy could prevent the significant lung damage that results from chronic cycles of infection and inflammation, with potential impact on quality of life as well as life expectancy.

"This is a further example of Queen's research advancing knowledge and changing lives."

Ed Owen, chief executive at the Cystic Fibrosis Trust, said: "Research is the biggest area of investment for us and it's wonderful to see projects like this making such positive progress in our fight for a life unlimited."

Liam (55), from Castlederg, has been supporting the search for a cure since his daughter Rachael was diagnosed when she was six weeks old. "We didn't know much about it, only that there was a young fella who lived close by that died the same week Rachael was diagnosed," he explained.

"He was 16, so for us it was just like a death in the family.

"It was off to the Royal Victoria Hospital to learn how to live, cope and deal with cystic fibrosis. We were taught how to do the physiotherapy for her.

"To look at Rachael, she is a gorgeous young girl, you couldn't tell. But her digestive system doesn't work and she has to take at least 50 tablets every day. But she has not let it beat her. She is doing a PhD and in two years will be Dr Rachael McHugh.

"She lives life as full as she can. It has been a way of life since she was born and she tries not to let it get her down. She is a battler."

He added: "This is such good news and hearing it gives people hope. There is such good work being done. Anything that is a step closer to a possible cure has to be welcomed."

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