I am primarily interested in methods for and applications of DNA methylation (DNAm), particularly as applied to Autism Spectrum Disorder (ASD). My work has focused on parsing technical and biological signal from the Illumina 450K Array, specifically in the characterization of multimodal distributions of DNAm signal. I have also worked on understanding the role of SNPs and haplotypes in DNAm (and as applied to ASD), and the extent of blood-brain DNAm concordance in ASD.
My primary interests are in genetics of pancreatic cancer and their interactions with environmental risk factors including smoking and alcohol. My dissertation is aimed to understand the genetic connections between chronic pancreatitis, diabetes and pancreatic cancer. I am also working on exome array and exome sequencing data of eye diseases and infectious diseases, conducing linkage and association analysis in population and family-based cohorts.
My research interests include questions of basic biology such as effects of person-to-person variability of histone marks and other biological processes, as well as more clinical concerns such as factors of host susceptibility to disease. I am also engaged in the characterization of technologies used to answer these questions.
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).
Johanna is an MD-Gem fellow in the Human Genetics program at Johns Hopkins School of Medicine. In our lab, Johanna has helped to pioneer and optimize the use of single cell RNA-Seq technologies and is involved in projects as diverse as neuronal subtype characterization in combination with retrograde labeling, single cell RNA-Seq characterization of somatic mosaic variation in primary patient cells, and iPSC modeling of neurogenic disorders. Her current project involves characterization of the genotype-phenotype relationship for neurogenesis defects in several disorders of the epigenetic machinery.