VARIANTS TO MECHANISMS

Population and Mendelian genetics approaches have identified thousands of genomic regions associated with disease. We use these as our unbiased window into disease biology. In spite of their unique nature, for only a small percentage of variants do we have a defined mechanism. Our goal is to identify functional variants which mediate risk, link them to their gene targets, and understand the phenotypic consequences of these changes.

To accomplish these goals, we employ a wide range of technical and analytic approaches. These include but are not limited to: genome-wide and local approaches to evaluate variant function and chromatin folding, targeted editing of functional regions in model systems using CRISPR-mediated methodologies, and characterization of phenotypes at the molecular and physiological level. In short, we aim to leave our preconceptions of disease pathology at the door and go where the loci take us.

Recent publications for our Variant to Mechanism program: 

  • Yu M, Georges A, Tucker NR, et al. Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse. Circ Genom Precis Med (2019) PMID: 31112420

  • Tucker NR, Dolmatova EV et al. Diminished PRRX1 Expression is Associated with Increased Risk of Atrial Fibrillation and Shortening of the Cardiac Action Potential. Circ Cardiovasc Genet. (2017) PMID: 28974514

 

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