Mapping the regulatory wiring of the genome to discover genetic mechanisms of heart development and disease

Research

DNA regulatory elements in the human genome harbor thousands of genetic risk variants for common diseases and could reveal targets for therapeutics that aim to precisely tune cellular functions — if only we could map the complex regulatory wiring that connects 2 million regulatory elements with 21,000 genes in thousands of cell types in the human body.

We combine experimental and computational genomics, biochemistry, molecular biology, and human genetics to assemble regulatory maps of the human genome, uncover biological mechanisms of disease, and develop cures.

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Our Team

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Key Publications

  1. An encyclopedia of human enhancer–gene regulatory interactions

    Andreas Gschwind, Kristy Mualim, et al. Nature (2026)

  2. Rewriting regulatory DNA to dissect and reprogram gene expression

    Gabriella Martyn, Michael Montgomery, et al. Cell (2025)

  3. Convergence of coronary artery disease genes onto endothelial cell programs

    Gavin Schnitzler, Helen Kang, et al. Nature (2024)

  4. Compatibility rules of human enhancer and promoter sequences

    Drew Bergman, Ray Jones, et al. Nature (2022)

  5. Genome-wide enhancer maps link risk variants to disease genes

    Joe Nasser, Drew Bergman, Charlie Fulco, Philine Guckelberger, Ben Doughty, et al. Nature (2021)

  6. Activity-by-Contact model of enhancer regulation from thousands of CRISPR perturbations

    Charlie Fulco, Joe Nasser, et al. Nature Genetics (2019)

  7. Systematic mapping of functional enhancer-promoter connections with CRISPR interference

    Charlie Fulco et al. Science (2016)

  8. Local regulation of gene expression by lncRNA promoters, transcription, and splicing

    Jesse Engreitz et al. Nature (2016)

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We gratefully acknowledge support from:

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