Scientists discover pathways to liver disease

  • March 1, 2013
Scientists discover pathways to liver disease

Siddhartha Kar is lead author on a paper which identifies the genetic underpinnings of primary biliary cirrhosis.

An international team of scientists that included Gates Cambridge Scholar Siddhartha Kar has shed new light on the genetic underpinnings of the most common autoimmune disease of the liver, which causes scarring and cirrhosis and can require a liver transplant.

Primary biliary cirrhosis or PBC is a disease in which the body’s own immune defence system attacks the ducts that drain bile from the liver. It primarily affects women over the age of 40 years and is thought to affect 1 in 4,000 people. PBC has no known cure and existing treatments only slow the progression of the disease. Many advanced cases require a liver transplant.

The scientists’ findings will be published later this month in the journal Genes and Immunity from the Nature Publishing Group and could eventually open the way for new treatments targeting the causes of PBC.

Their study analysed genetic data from over 2,300 individuals, including nearly 1,000 patients diagnosed with primary biliary cirrhosis in Canada and Italy. The scientists compared those with and without the disease using a newly-developed statistical approach to identify molecular pathways that are associated with the risk of developing PBC. Two bio-molecular pathways were independently associated with the disease in the geographically distinct Canadian and Italian patient subgroups.

Siddhartha Kar [2012], who is lead author of the study and doing a PhD in Public Health and Primary Care, said: “Although these findings are preliminary, the identified
pathways expand our current understanding of PBC. They are promising candidates
for further exploration as potential targets for measures to prevent and treat this chronic autoimmune disorder.”

The paper is based on his master’s thesis at the University of Texas, Houston. His research was supervised by Professor Christopher I. Amos of Dartmouth College who is the senior author of the paper.

The study was supported by grants from the United States National Institutes of Health, Hypergenes – European Network for Genetic-Epidemiological Studies (co-funded under the European Commission’s Seventh Framework Programme), the Canadian Institutes for Health Research, the Ontario Research Fund, and the Canadian PBC Society.

More information

Picture credit: Terrortoma and Creative Commons

Latest News

Towards a dictionary of the human genome

Marie Brunet’s research focuses on the secrets still hidden in our genomes. She says that despite the fact that we live in an era where getting our genome sequenced is possible, we still don’t know the origin of two fifths of inherited diseases. That is because, as she says, the genome only currently maps the […]

Scholar recognised for research into misinformation

A Gates Cambridge Scholar has been shortlisted for a Women of the Future Award for her research into countering misinformation. Melisa Basol [2018] was shortlisted for the science category of the UK Awards which recognises “truly remarkable female scientists, forging new ground in research and scientific achievement”. There are 11 other categories and three special […]

Scholars join forces on anti-cancer drug

Two Gates Cambridge Scholars have joined forces to work on a drug candidate that has the potential to replace one of the most widely used cancer drugs around the world. Dr Anand Jeyasekharan [2004], who did his PhD in Oncology, and Dr Chandler Robinson [2009] who did an MBA at Cambridge, will collaborate on a […]

Making the experiences of imprisoned women activists visible

Growing up in a small town in Bengal, Jigisha Bhattacharya [2022] developed a particular sensitivity to marginalised groups and conflicts between different communities and identities from an early age.  It is this interest and her experience of political protests at university, combined with a longstanding curiosity about the links between politics and the arts, that […]