Mapping the Missing Link: Bridging the Gap Between Human Genetics and Disease Biology Through Small Molecule Biomarker Discovery

Genome-wide association studies (GWAS) have been transformative in elucidating the genetic landscape of human disease, defining hundreds of common and rare genetic variants that contribute to the development of disease. The challenge to date, however, lies in understanding the biological mechanisms that underlie these genetic associations and identification of key targets for therapeutic intervention. Circulating small molecule biomarkers provide an opportunity to bridge the gap between large-scale genetics data and biological understanding.

In this session, Dr. Mohit Jain discusses how small molecule biomarkers can provide the missing link between genetics data and high-quality understanding of mechanisms of disease, informing on biological processes linking genetic variants and disease; providing read outs of genetic targeting; and allowing for discovery of new biological targets.