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Functional genetics in primary sclerosing cholangitis

T.H. Karlsen
T.H. Karlsen

Group leader Senior Scientist Tom Hemming Karlsen, MD, PhD

Research background

The etiology of Primary Sclerosing Cholangitis (PSC) is not known. Genetic factors are likely to play an important role in disease development, as shown by an increased risk of disease in first degree relatives of patients with PSC. By studying disease genes and their function, the mechanisms by which PSC develop and eventually may be treated can be defined. This has been the basis for the first 3-year work package in the functional genetics group at the Norwegian PSC Research Center (2008-2011). Since 80% of the patients with PSC also have ulcerative colitis (UC), both diseases are studied in parallel. Alongside the genetic studies, targeted biobanking and establishing of new laboratory methods (required for the subsequent "translational" work packages) have been performed (see figure). Several milestones have been accomplished and the studies performed so far have revealed a surprising large overlap of PSC genes with various autoimmune diseases. The primary bile duct injury in PSC is thus likely to be "autoimmune", but infectious and toxic (i.e. bile) factors may also play a role. 

 

 
Figure: An overview of the strategy of the functional genetics group. The “ideal” plan (upper panel) with three subsequent 3-year work packages in reality means that activities need to overlap. The main message is that a shift from genetic studies to functional and clinical applications is intended and ongoing. Likely, most of the “pure” genetic studies in the first work-package will be completed late 2011 and early 2012. Output from the activity is evident from the publication lists.  

For more details, please see "About our research".


  

Organizational context:

Norwegian PSC Research Center

International PSC Study Group Home Page
 


 
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