From pQTL mapping to causal disease biology: Proteogenomics across tissues and ancestries
Date: Wednesday, October 21
Time: 12:15–1:15 PM
Location: 515AB
Speakers
João Paulo Santos Fadista
Bioinformatics Specialist
Cohort & Disease Informatics at Novo Nordisk
Cindy Lawley
Senior Director Global Population Health
Olink, part of Thermo Fisher Scientific
Description
Large-scale proteogenomics is creating new opportunities to connect genetic variation with protein regulation, disease mechanisms, and therapeutic hypotheses. This session will highlight recent population-scale pQTL research demonstrating how cis- and trans-regulatory effects can reveal the genetic architecture of the circulating proteome and help provide insights into tissues, pathways, complex traits, and disease (Mine et al., Cell, 2026). The session will then extend these concepts to causal disease mapping across tissues and ancestries. João Paulo Santos Fadista, Bioinformatics Specialist, Cohort & Disease Informatics at Novo Nordisk, will present an approach integrating Olink pQTL data from plasma, liver, muscle, and artery with multi-ancestry GWAS biobanks. Using Mendelian randomization and genetic colocalization, these complementary datasets can help identify proteins implicated in human disease and translate genetic associations into biologically and therapeutically relevant hypotheses.