We are The Genomic Decryption Lab at MMRI, an interdisciplinary laboratory based in the foothills of the Adirondack Mountains in Utica, NY. We use human genetics and ambitious technological approaches to increase our understanding of human health, with a focus on the cardiovascular system.
What are the unexpected genes and pathways associated with human disease? Through which cell types do these genes act? How can we comprehensively assess variants of unknown significance to aid in clinical interpretation? These questions and more underlie our research mission. They take us to odd model systems, challenging molecular and analytic approaches, and rapid implementation of technological advances.
VARIANTS TO MECHANISMS
Population genetics have identified thousands of genomic regions associated with disease. We use these as an unbiased window into disease biology. Our goal is to identify functional variants, link them to their gene targets, and understand the phenotypic consequences.
LOW INPUT 'OMICS FOR HUMAN HEALTH
Our group has pioneered the implementation of low input transcriptomics for human cardiac tissues. We continue to implement low input technologies for spatial resolution of molecular events, epigenomic regulation, and gene expression.
UNIQUE MODELS OF CARDIOVASCULAR FUNCTION
The human species only contains so much variability in physiological function, but the animal kingdom provides unique adaptations that might be considered pathology in human. We partner with species experts to understand how these adaptations lead to their unique physiology at the molecular level.