Research Interests
My research focuses on how trisomy 21 alters human biology and drives the distinct health outcomes of people with Down syndrome (DS). I use genomic and multi-omic approaches, including transcriptomics, single-cell profiling, proteomics, and metabolomics, in human cohorts and in cellular and mouse models to define the molecular consequences of chromosome 21 gene dosage and identify candidate therapeutic targets. A central part of my work is building resources that make data and samples widely available to the DS research community. I serve as one of the Principal Investigators of the DS-Biorepository and of the NIH INCLUDE Data Coordinating Center, which hosts the Experimental Models of Down Syndrome (EMODS) portal. I also lead the Trisomy 21 Model Atlas, an open resource that characterizes trisomy 21 effects across mouse and human iPSC models. My earlier work on transcriptional regulation by CDK8, p53, and HIF1A in hypoxia and cancer continues to shape my interest in gene regulation and cellular stress responses.