Getting closer to the causes of primary biliary cirrhosis - breaking news from the TWH Liver Centre
The Toronto Western Hospital Liver Centre is pleased to announce a major breakthrough in our understanding of primary biliary cirrhosis (PBC), the classic autoimmune liver disease. In a close collaboration with genetics experts at Mount Sinai Hospital, also in Toronto, as well as collaborators across Canada and the US, we have published the first ever genome scan of PBC in the highly influential New England Journal of Medicine in May 2009. Indeed this is one of the first genome scans of note in liver disease per se. The paper was published on-line at the New England Journal of Medicine on May 20th 2009. To read it, click on http://content.nejm.org/cgi/content/full/NEJMoa0810440.
Dr Hirschfield and his colleagues outline new genes that are associated with the development of PBC. These genes play an important role in how the immune system works and it is now clear that subtle changes in their function are likely related to why patients develop this chronic biliary disease. The gene loci identified as important belong to the IL12 signaling axis, a pathway central to immune regulation. Commenting on the work, Gideon Hirschfield who runs the autoimmune liver disease service in Toronto said "We are really excited by these findings. For the first time ever we are closer to understanding why PBC begins, and how we might treat it better. We are very grateful to all the clinicians and patients from across Canada and America who have given DNA samples and to the PBC society who were critical in providing resources to collect the Canadian samples. We’re delighted that a Canadian led team is the first in the world to do this pivotal study, and hope this ushers in an era of even more collaboration as we try and work with DNA samples from many thousands of patients in the future to tease apart this enigmatic disease." Jenny Heathcote and Kathy Siminovitch initiated the study about 5 years ago. Jenny, well known to patients across the world as a leading authority in PBC said "These results point to why PBC develops and where new drugs should be targeted. I’m thrilled that the patients and doctors have worked so closely together to make this breakthrough, and that a pan-Canadian network of liver centres has so successfully worked together. This is just the start and we hope that our autoimmune liver disease clinic at the Toronto Western, as well as those across Canada, continue to be supported by patients and clinicians". The autoimmune liver disease service at the Liver Centre is a unique clinic that looks after patients with all types of autoimmune liver disease (primary biliary cirrhosis, autoimmune hepatitis, primary sclerosing cholangitis, autoimmune pancreatitis). Our aim is to continue developing this service so that large cohorts of patients can be collected to facilitate clinical research. Recruitment continues at full pace for this study, as there is still a lot more important work to do. Additionally we plan to concentrate a similar effort towards identifying genetic factors at play in patients with primary sclerosing cholangitis and autoimmune hepatitis. For more information, click here. Dr Hirschfield is always available for advice and can be contacted at aildtwh@gmail.com Grant support for this study was principally from the Canadian Institutes for Health Research as well as from the Canadian PBC society. |
