Overview
My primary research interest is understanding how the genome is regulated. The human genome contains approximately 25,000 genes, which are encoded in ~2% of the genome. The overarching goal of my research program is to identify and characterize how these genes are turned on and off in different cell types, tissues, development states, environmental responses, diseases, and individuals. By understanding where all gene regulatory elements are located, how they work to regulate gene expression, and how non-coding variants within these regions affect function, my research program can address a number of important basic and clinical questions.
Current Duke Appointments & Affiliations
Minnie Geller Distinguished Professor of Research in Genetics
·
2026 - Present
Pediatrics, Medical Genetics,
Pediatrics
Professor in Pediatrics
·
2020 - Present
Pediatrics, Medical Genetics,
Pediatrics
Associate Professor in Molecular Genetics and Microbiology
·
2015 - Present
Molecular Genetics and Microbiology,
Basic Science Departments
Affiliate of the Duke Regeneration Center
·
2021 - Present
Duke Regeneration Center,
Basic Science Departments
Recent Scholarly Works
Massively parallel assessment of gene regulatory activity at human cortical-structure-associated variants.
Journal article Nat Neurosci · September 23, 2026 Genetic association studies have identified hundreds of largely noncoding loci associated with interindividual differences in the structure of the human cortex, although the specific functional variants contributing to these phenotypes are unknown. Here we ... Full text Link to item CiteHigh-throughput characterization of transcription factors that modulate UV damage formation and repair at single-nucleotide resolution.
Journal article Nat Commun · July 10, 2026 Genomic studies revealed elevated DNA damage and mutation rates at transcription factor (TF) binding sites in UV-linked cancers. While TFs can promote UV-induced mutagenesis by altering both damage formation and repair, these mechanisms have not been syste ... Full text Link to item CiteCell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.
Journal article Genet Med Open · 2026 PURPOSE: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing. Here, we aimed to be ... Full text Link to item CiteRecent Grants
Computational Biology and Bioinformatics Training Grant
Inst. Training Prgm or CMEMentor · Awarded by National Institutes of Health · 2026 - 2031Genetics and Genomics Training Grant
Inst. Training Prgm or CMEMentor · Awarded by National Institutes of Health · 2026 - 2031Leveraging novel mouse models to investigate toxic metal exposures on brain aging and Alzheimer's disease
ResearchPrincipal Investigator · Awarded by Boston University · 2024 - 2029View All Grants
Education
University of Michigan, Ann Arbor ·
2001
Ph.D.