The overarching aim of the Genomic Hepatobiology Laboratory is to investigate the genetic predisposition to chronic liver diseases. The current emphasis of our research program is to better understand the genetic susceptibility to Primary Biliary Cirrhosis (PBC) and Primary Sclerosing Cholangitis (PSC). PBC and PSC are chronic, progressive cholestatic liver diseases that contribute to hepatic failure and shorten patient life expectancy.
PBC and PSC are likely caused by immune-mediated damage of cholangiocytes -the epithelial cells that line the bile ducts- in a genetically predisposed individual as a reaction to probable environmental insult(s). Yet, the putative genetic loci and the proposed environmental elements(s) involved in PBC and PSC susceptibility have not been elucidated, thus, preventing the development of novel therapies.
We employ a genetic epidemiology approach to shed light on the underpinning mechanisms of these two enigmatic hepatic diseases. Our experimental approach is to create comprehensive, research resources of PBC and PSC probands including a family registry. As a correlate, for each disease we are also recruiting well-matched, clinic-based controls. This research resource is linked to a genomic DNA/cell lines and serum/plasma bio-specimens repository. Our lab uses these unique research resources and state-of-the art experimental methods to systematically investigate the genetic and environmental components, which predispose to PBC and PSC.
The laboratory is supported by NIH grants, the Palumbo Foundation and the Mayo Clinic.