My research interests focus on the role of the human epigenetic machinery in human homeostasis. Specifically, I am studying fundamental properties of genes encoding for chromatin modifiers, such as their expression patterns, their tolerance to variation, and their links to specific disease phenotypes. Additionally, I am working on Kabuki syndrome, one of the Mendelian disorders of the epigenetic machinery, where my focus is on characterizing the epigenomic aberrations that occur downstream of the genetic defect and give rise to the disorder.
Broadly, I am interested in population genetics and how genetic and genomic information is used. My current research involves analysing structural variation in Hirschsprung Disease, a neurodevelopmental birth defect.
My research interests lie at the intersection of host-pathogen dynamics, genetic epidemiology, and the immune response to infectious diseases. I hope to utilize genomic data at both the host and pathogen level to study human susceptibility or resistance to certain infectious diseases.
I am interested in how genetics affects complex human diseases on its own and by gene-environment interaction. I am particularly interested in studying epigenetics as the intermediate layer between genes and environment. Also, I have an interest in early life exposures, especially how it may impact disease onset later in life through genetic, epigenetic or other mechanisms.
Entered Program: 2013
My research interests focuses on the role of the mitochondrial genome in the etiology of cardiovascular disease – particularly sudden cardiac death (SCD). Recent research in the Arking lab has shown mitochondrial DNA copy number (mtDNA-CN) to be associated with SCD as well as prevalent frailty and all-cause mortality. I am interested in elucidating the control mechanisms and genetics determinants for mtDNA-CN and how these factors may contribute to disease onset later in life.
The focus of my research is on variation in mitochondrial DNA, including mtDNA copy number, heteroplasmy, and inherited genetic variation. I have been investigating the association of this variation with epigenetic modifications, specifically methylation, and the effect of this variation on physical function and aging-related disease (such as phenotypes associated with reduced mtDNA copy number).
My research interests focus on autism spectrum disorder, related neurodevelopmental and neuropsychiatric disorders (NDD/NPD), and other complex human disease phenotypes such as coronary artery disease (CAD). Broadly, I’m interested in a richer understanding of the genotype to phenotype spectrum in complex traits and disease. How do common genetic variants coalesce and contribute to phenotypic variation? What is the interplay between genotype and phenotype in driving disease risk for specific subgroups of individuals? What can we learn from understanding the differences between genotype and phenotype with respect to predicting risk for complex disease? To this end, I aim to elucidate the functional role of common, polygenic variation discovered through GWAS of CAD and NDD/NPD by integrating different omics datasets that measure molecular phenotypes including ChIP-Seq, ATAC-Seq, and RNA-Seq, along with polygenic risk scores that capture genotypic risk for these disorders.
My research interest is to understand the genetic contribution on the diversity of the human immune response, with a particular focus on gene regulation. Integrating this functional information into genetic population studies may offers insights into the mechanism of complex diseases.