Top level navigation

Breadcrumb to current page

Main content

Press Release

Press release

New discovery could benefit Cystic Fibrosis patients with liver disease

22 September 2009

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.

Cystic fibrosis is the most common fatal genetic illness among young Irish people. It affects 1100 people, but it is still a rare disease. Patients with the illness have defects in a particular gene called CFTR. This defect cause the lungs, intestines and pancreas to become clogged with mucus, resulting in breathing problems and other difficulties.

'Without the Health Research Board funding targeting rare diseases we would not have been in a position to contribute in such a significant way to this international study', says Dr Rowland. 'While the Health Research Board provide funding for research conducted primarily in Ireland, it recognises that those investigating rare disorders, may need to participate in projects that are led predominantly and perhaps even fully outside of Ireland'.

'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 Vincents, Hospital and Dr Gerary 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). More details on the article itself can be found at the link below this article.


For more information contact:
Gillian Markey, Communications Manager
Health Research Board
m 00353 87 2288514
t 00353 1 2345103
e gmarkey(at) 

Search the HRB website

Other information and links