The overarching aim of the Genomic Hepatobiology Laboratory of Konstantinos N. Lazaridis, M.D., at Mayo Clinic is to investigate the genetic predisposition to chronic liver diseases. The current emphasis 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.
The lab employs a genetic epidemiology approach to shed light on the underpinning mechanisms of these two enigmatic hepatic diseases. The experimental approach is to create comprehensive research resources of PBC and PSC probands, including a family registry. As a correlate, for each disease the lab is also recruiting well-matched, clinic-based controls. This research resource is linked to genomic DNA and cell lines, as well as a serum and plasma biospecimens repository. The lab uses these unique resources and state-of-the-art experimental methods to systematically investigate the genetic and environmental components that predispose individuals to PBC and PSC.
The Genomic Hepatobiology Laboratory is supported by National Institutes of Health grants, the Palumbo Family Foundation and Mayo Clinic.