We decode how inherited variation reshapes the smooth muscle, endothelial and fibroblast cells of human arteries — and how those changes cause coronary artery disease, the world's leading cause of death.
Hover a cell type to find it in the plaque
Each coronary artery disease locus is a clue. We trace it through the regulatory genome to a causal gene, to the cell state it controls, and finally to the biology of the plaque.
Pinpointing the variants, enhancers and genes that carry coronary artery disease risk.
How smooth muscle cells change identity in plaque — and which transitions protect or harm.
Cataloguing the cells of every major arterial bed, and the enhancers that define them.
CRISPRi Perturb-seq and TAP-seq screens of CAD genes and enhancers, in human cells and in vivo — shared through IGVF.
A dense single-cell RNA + ATAC timecourse of mouse atherosclerosis traces smooth muscle cells as they transition into fibromyocyte and chondromyocyte states, identifies TCF21 and TEAD1 as regulators of these trajectories, and shows that CAD genetic risk concentrates in transitional SMC states.
A single-cell and spatial atlas of eight human arterial beds reveals segment-specific smooth muscle, fibroblast and endothelial programs that reflect embryonic origin, and maps vascular disease GWAS signals onto these cell populations.
Smooth muscle cells in plaque express immunogenic double-stranded RNA. SMC ADAR1 editing keeps the RNA sensor MDA5 in check; losing it triggers an interferon response, larger plaques and calcification, linking a CAD-associated RNA-editing pathway to vascular disease.
Single-cell chromatin accessibility and gene expression across three vascular sites show that enhancer landscapes retain developmental origin, and ChromBPNet deep-learning models predict cell type– and site-specific effects of disease variants.
Genome-scale CRISPRi screens of CAD GWAS enhancers in human coronary artery smooth muscle cells link noncoding risk loci to target genes and shared gene programs, including ancestry- and sex-specific enhancer effects at 9p21.3.
With the Lavine and Stitziel labs: modulated, FAP-expressing smooth muscle cells can be selectively targeted to modify atherosclerotic disease.
William G. Irwin Professor of Cardiovascular Medicine
Director of Research, Division of Cardiovascular Medicine
Three decades of genetic studies of vascular disease — from multi-ethnic GWAS of coronary artery disease to single-cell mechanisms in the vessel wall. Dr. Quertermous has trained more than 30 alumni now leading labs and programs at Stanford, Columbia, Yale, UNC, UVA, Kobe, Kyoto and beyond.
Meet the team →With five other Stanford labs, decoding how cardiovascular GWAS variants affect genome function and disease.
Learn more →CZI Human Cell AtlasSeed Network · Human vasculatureSingle-cell transcriptomic and epigenomic features of human arterial segments, released openly on CELLxGENE.
Learn more →ATHENA NetworkAtherosclerosis Targets from Human gEnetics and functional geNomic ApproachesA transatlantic collaborative laboratory (Stanford, Cambridge, Karolinska, Helsinki, WashU) to validate causal atherosclerosis genes.
Learn more →We welcome postdoctoral fellows, physician-scientists, graduate and undergraduate students who want to combine experimental and computational genomics to understand vascular disease.
