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

Provost wins top Royal Society award

Gates Cambridge Provost Professor Barry Everitt has been selected for the Royal Society’s premier award in the biological sciences. Professor Barry Everitt FMedSci FRS has been awarded the Croonian Medal and Lecture 2021 for his research on the application of his findings on brain mechanisms of motivation to important societal issues, such as drug addiction. […]

Addressing energy injustice in the Global South

A new framework which uses artificial intelligence to analyse textual data on energy use and behaviour could help policymakers develop a deeper understanding of energy injustices in the Global South. The study, Grounded reality meets machine learning: A deep-narrative analysis framework for energy policy research, was led by Gates Cambridge Scholar Ramit Debnath [2018] and is published in the journal Energy Research […]

Scholar wins top German prize for PhD thesis

A Gates Cambridge Scholar has won a prestigious international award for her PhD dissertation on the relationship between offshore finance and state power. Dr Andrea Binder was named winner of the Körber Foundation’s German Dissertation Award 2020 for social sciences. The prize, one of the most highly endowed for young researchers from Germany, honours excellent PhD research which […]

Developing a farm for impact model

Shadrack Frimpong has not yet started his PhD, but already his and his team’s work has earned him awards from the Queen, the Clinton Foundation and the Muhammad Ali Foundation. The awards are for their outstanding work in creating a potential new development model for rural crop-growing communities starting from Shadrack’s own village in Ghana. […]