RESEARCH

VARIANTS TO MECHANISMS

Of the thousands of genetics association loci for human traits and diseases, for only a few do we have mechanistic understanding for how the variants confer their effects. We attack this problem at three levels: Identify the functional variants, link association loci to their target gene(s), and evaluate the effect of gene perturbation on cellular biology and physiology. We approach these questions both at the genome scale and on a locus by locus basis.

LOW INPUT 'OMICS FOR CARDIOVASCULAR HEALTH

Comparative studies at the transcriptomic and epigenomic level have long been conducted at the tissue level, where differences in cell composition may obscure important changes in particular cell types. We actively employ and develop methods for assaying the transcriptome and epigenome for cardiovascular tissue.

UNIQUE MODELS OF CARDIOVASCULAR FUNCTION

Human physiology only allows for a limited range in cardiovascular function with activity outside of this range quickly descending into pathology. We actively pursue an understanding of molecular events associated with extreme physiological adaptations in the animal kingdom, with work ranging from de novo genome/transcriptome construction to metabolic profiling to single cell sequencing. Our ultimate goal is to translate these findings to improve outcomes in humans.