Specialization
Focus of research
Heritable cardiovascular disorders are a significant cause of sudden death and heart failure in the young. Over the past decade, genome-wide association studies have highlighted the significant role of common noncoding genomic variation (NGV) in disease risk. As whole genome sequencing expands, knowledge of low-frequency, disease-associated NGV will also increase. Now, there is an urgent need to translate these genetic insights into a deep biological understanding of disease mechanisms. My research aims to bridge the growing gap between genetics and pathophysiology by investigating the hypothesis that noncoding regulatory DNA drives cell states. I postulate that shifts in states caused by NGV lead to changes in organ function, and ultimately disease. This work will enable me to establish a comprehensive framework that can be applied to other inherited diseases. I will achieve my goal by leveraging in vivo-, ex vivo- and tissue culture techniques with cutting-edge transcriptomic and epigenomic profiling technology.