The problem

Alcohol-related liver disease, is the most common cause of liver cirrhosis, liver cancer and liver related-death in Europe. The burden is particularly borne among working adults with a peak age of deaths occurring individuals in their late 40s early 50s. Despite these findings, alcohol-related liver disease is an under-researched condition with only 5% of all clinical trials in the field of liver diseases registered in ClinicalTrials.gov, and just 5% of all publications in the same research area.

The approach

My research focuses on severe forms of alcohol-related liver disease including severe alcohol-related hepatitis, liver cirrhosis and hepatocellular carcinoma. My group aims to better understand the pathogenesis of alcohol-related liver disease and identify at-risk patients using genome-wide association studies (GWAS), single-cell genomics and machine learning methods.

Main discoveries and innovations

We showed that host genetic variations in genes involved in lipid turnover (e.g., PNPLA3, TM6SF2) impact the development of alcohol-related cirrhosis. More recently, our team performed the first GWAS in alcohol-related hepatocellular carcinoma identifying variants in the WNT3A-WNT9A region as a novel susceptibility locus and also confirmed the association of genetic variants in PNPLA3, TM6SF2, and HSD17B13.