Genome-scale multi-OMICS in primary sclerosing cholangitis and cholangiocarcinoma for personalized medicine

Scandinavia is the part of the world where primary sclerosing cholangitis (PSC) is most frequent. The etiology is unknown which limits the development of targeted therapy. There is a very high risk of developing cholangiocarcinoma (CCA). The disease progression to liver failure of CCA is highly unpredictable.

PSC is a unique model to understand the development of CCA that otherwise is so rare that longitudinal studies are impossible. There is no predictor, medical treatment, early diagnostic tool, or good animal model for PSC/CCA.

It is an urgent need to the uncover the biology underlining the heterogeneity of the disease to increase the precision and efficiency of patient’s management. The purpose of this proposal is to join clinical and basic expertise in the study of these two severe diseases.

We aim to define the in-depth biological heterogeneity of PSC and CCA, and to uncover new disease entities suitable for targeted diagnosis, and management.

We will tackle this challenge using a combination of genome-scale molecular and biological methods and state-of-art multidimensional analysis.

We aim to perform the first genome-wide methylation and genome-scale autoantibody profiling in PSC and CCA as well as a multi-OMIC integration of large-scale metabolomic, molecular and inflammatory mediators.

To achieve these aims, we possess both bioinformatic expertise and one of the world-largest PSC/CCA cohorts and biobank built over the last 20-years.