Research News

August 2010

RCSI Researchers make Breakthrough in Understanding Gender Gap in Cystic Fibrosis

The CFAI welcomes results from a recent study, published in the American Journal of Respiratory and Critical Care Medicine, which found that oestrogen limits the lung's ability to respond to infection. The research was carried out by scientists at the Royal College of Surgeons in Ireland (RCSI) and Beaumont Hospital. Oestrogen was found to prevent the release of a chemical signal (IL-8) that triggers the influx of white blood cells (neutrophils) into the lungs to fight the infection when cells are attacked by bacteria.

Dr Sanjay Chotirmall, joint lead author of the study commented, "Our research may contribute towards narrowing the gender gap in CF by identifying new potential targets for treatment, such as stabilisation of oestrogen levels, or more aggressively employing preventative strategies against infection during the one week of the four week menstrual cycle where oestrogen levels are at their highest. Our ultimate aim would be improving the quality of life and survival rate for female sufferers of CF."

"The reduced response to infection combined with a greater likelihood of acquiring an infection in the first place, both caused by high oestrogen levels, goes a long way towards explaining how females with CF have more aggressive disease, particularly with the onset of puberty," Dr Chotirmall continued. It is hoped that the findings from this research study will lead to new treatments for the disease. The study was funded by the Higher Education Authority PRTLI Cycle 4, through a Molecular Medicine Ireland Clinician-Scientist Fellowship Programme.

September 2009

New Discovery Could Benefit Cystic Fibrosis Patients with Liver Disease

Health Research Board funded researchers have had a key role discovering a gene variant that makes people with cystic fibrosis (CF) five times more likely to develop liver cirrhosis and other liver complications than patients who carry the normal version of the gene. "We are really excited about this breakthrough," says Dr Marion Rowland, principal Irish researcher on the study from UCD Medical School and the Children's Research Centre, Crumlin. "About five per cent of CF patients develop liver disease that is so severe it requires a liver transplant. This discovery could lead to earlier detection and diagnosis of cystic fibrosis liver disease which would result better treatment options for the patients affected by the disease," she explains.

"By teaming up with other organisations in Canada and North America, we were able to compile the largest ever number of samples from CF patients with liver disease in order to test our theory that genes other than CFTR affect the development of liver disease in CF patients," she explains. The study was initially conducted among 124 CF patients with severe liver disease and 843 CF patients without liver disease. The team then examined the variants among five genes that are thought to be associated with liver disease. They discovered that more CF patients with liver disease had a gene variant called Zallele, than those CF patients who did not, indicating that this gene has a role to play in the development of liver disease. In order to confirm the results they repeated the same test with a different group of 136 CF patients with liver disease and 1088 patients who did not. Their finding was the same, verifying their original findings.

"Further research will be required before we can definitively identify those who are at risk," says Prof Billy Bourke, UCD Medical School and Our Lady's Hospital for Sick Children (OLHSC), Crumlin. "But this is a really important discovery which provides clear direction for where we need to focus our next research effort. Ultimately we want to provide early diagnosis and save lives."

"Without participation of patients and their consultants, Dr Charlie Gallagher in St Vincent's, Hospital and Dr Gerry Canny in OLHSC, this work would not have happened," says Dr Rowland. This study was funded in part by the Health Research Board in conjunction with the Children's Medical and Research Foundation under the umbrella of Irish Charities Group for Research in Rare Diseases. International funding to support the research also came from the International Institutes of Health in America and Genome Canada.

The international study is published in the Journal of the American Medical Association (JAMA).