Mayo Clinic's Genomic and Exposomic Hepatobiology Lab studies the genetic epidemiology and pathogenic mechanisms of the cholestatic liver diseases primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC). Current research projects include:
- Genomics of PBC and PSC. This long, ongoing study continues to dissect the genetic predisposition to PBC and PSC using array- and sequencing-based genotyping methodologies. This project has already identified numerous genes potentially contributing to the development of PBC and PSC, as well as existing drugs that might be good candidates for treatment of these diseases. Future findings will continue to provide novel insights into PBC and PSC.
- The exposome and metabolome of PBC and PSC. This study seeks to determine whether environmental exposures and downstream impacts on metabolic processes contribute to disease pathogenesis in PBC and PSC. The lab's team uses cutting-edge, ultrahigh-resolution mass spectroscopy platforms. The findings of this study will provide a new appreciation of similarities and differences of disease pathogeneses in PBC and PSC.
- Peripheral immunity in PBC and PSC. This study aims to describe immune alterations in patients with PBC or PSC by evaluating peripheral immune cell type composition — immunome — using mass cytometry and activation state — methylome, transcriptome and proteome — using sequencing and proximity extension-based methods. Individual and combinatorial approaches to analyzing the resulting data will provide valuable insight regarding immune mechanisms contributing to these diseases.
- Gut microbial composition and dynamics in PBC and PSC. This study aims to characterize disease-associated differences in gut microbial dynamics of patients with PBC and PSC using next-generation sequencing of stool bacteria and fungi coupled with ultrahigh-resolution mass spectroscopy to evaluate the stool exposome and microbiome. This study will provide new insights into the link between gut health and the inflammatory nature of these diseases.
- The PBC and PSC scientific community resources. These resources serve to coordinate and disseminate data generated by our large-scale, omics-based experiments, along with residual biospecimens, to collaborators within the greater PBC and PSC scientific community. The availability of these resources helps to quicken the pace of cholestatic disease research and facilitate the pursuit of complex multiomics analyses using artificial intelligence and machine-learning approaches.