Ahead of ’65 Roses Day’, Cystic Fibrosis Day, on Friday April 12th, CMRF Crumlin announced it is funding €293,579 into new Cystic Fibrosis research in Ireland. CMRF Crumlin provides vital funding to Crumlin hospital and the National Children’s Research Centre. 1 in 19 people in Ireland are carriers of the CF gene. 30 new cases of cystic fibrosis are diagnosed in children every year in Ireland. Ireland has the highest rate of CF in the world. Ireland also has the highest rate of families with more than one child with CF. CF is a genetic condition which has a negative impact on multiple body functions including breathing, digestion and even reproduction.

“Cystic fibrosis is caused by mutations in this one gene called CFTR (Cystic fibrosis transmembrane conductance regulator) which is a chloride channel.” Dr. Judith Coppinger at the NCRC said, “Mutations in these chloride channel disrupt the water and salt balance in cells and because of this dehydrated space, patients have this buildup of mucus in the lungs. Then the lungs of the CF patients can’t clear away the bacteria, so they have a lot of bacterial infections. It’s a progressive disease. It’s not that severe generally when the children are more junior. Over time there is increased inflammation and increased bacterial infections. Eventually some of these inflammatory cells like neutrophils will release proteins which will damage the lung architecture, the lung wall. Ten years ago, the average lifespan of someone with CF was 30 years. Today, because of medical research and drugs, it’s closer to 40 years depending on the individual. Most people who die of CF die of respiratory failure or respiratory depression because there’s so much damage to their lung wall.

“Right now CF research is focusing on trying to correct the CFTR deficiency early on in children. Clinical trials are now aiming to improve lung function and correcting the mutation in different populations of CF children.”

When speaking about why she wanted to research this area, Dr. Coppinger said it was for three reasons – firstly, because she had a family friend who had two children with CF, secondly because of Ireland’s high gene carrier rate, and thirdly because of the effect of the disease on the children and their families – “You don’t express the CF gene unless you have two copies, one from each of your parents. CF dramatically effects a young patient’s day-to-day life. They have to take an awful lot of different medications. It’s not just their lung that’s disrupted. It’s also problems with their pancreas. It’s quite a grueling schedule. They have to take enzymes to help them break down their food. They’re often on antibiotics and anti-inflammatories. They have to do a lot of physio, a lot of exercise. Even without any major illnesses, they come into hospitals for fairly regular checkups. It’s quite demanding on their families.”

Dr. Coppinger is working in collaboration with Professor Paul McNally and his clinical team, with the CF database at the NCRC called SHIELD (The Study of Host Immunity and Early Lung Disease). SHIELD is an ambitious, long term translational research programme studying different clinical samples from children with CF at different age groups.

“One of the main areas we are looking at right now is researching small little vesicles called exosomes.” Dr. Coppinger explains. “We’re looking at these exosomes that are secreted by the cells, particularly cystic fibrosis cells from the lung. What we do is we isolate these little vesicles from both the fluid in the lungs and from the blood of individuals with CF. We’ve been studying them to try to find out a number of different things – is there more of these vesicles in CF patients than there would be in controls? Do they have any function? Do they activate the white blood cells around them in the airway space? Are these little vesicles markers of the disease? Do more develop as the disease progresses? What kind of little molecules, proteins, are in them? That’s one area we’ve been looking at.”

Dr. Coppinger said that while research has greatly improved the treatment of CF over the past 10 years, her biggest motivator is trying to find better treatments, and someday a cure – “Treatment has greatly improved life expectancy for people with CF, but it’s not cured yet. It’s just a question of trying to slow down, freeze or improve the illness as early as possible and getting children early on. We want to try and identify children that could respond to therapy early on because then they don’t get the damage in the lung that will just cause the eventual problems in CF. The idea is if you could treat them very early on, you correct it very early on. We want to use these vesicles as markers to identify which of these children will respond to treatment. Early treatments could increase their lifespan another 10, 20 years. That’s the goal.

“We’ve made quite a lot of progress in terms of these vesicles and they’re very novel in CF. We have discovered that there’s much more of them in CF patients than in control patients. We’ve discovered they have an actual function that they activate neutrophils from the blood of children with CF.

“The funding for CF research is very important because without research, we will never find a cure and we will never make progress on treating this illness. CF can be an extraordinary burden on a child and on their family. Even with improvements, I think it’s a very difficult disease, and the lifespan is still way shorter than it should be. I hope that my research will answer more of our questions, and hopefully these will help piece together the scientific puzzle which will help us treat this illness.”

“We rely heavily on public fundraisers and donations.” Fiona O’Malley, Head of Communications at CMRF Crumlin, said. “Without this support, we wouldn’t be able to provide vital funding into paediatric research, like this research into Cystic Fibrosis. We’re so appreciative of anyone who fundraises for us, because every sick child deserves every chance!”

 

CMRF Crumlin is providing vital funding into Cystic Fibrosis in Ireland, by funding grants at the National Children’s Research Centre (NCRC). To donate to CMRF Crumlin, please go to https://cmrf.org/donate