I’ve been involved in research and studying the genetics of lupus and related autoimmune diseases. My research interests are:
- Population genetics, including the Genome Wide Association Studies (GWAS)
- Polygenic risk score estimation (PRS) for a wide variety of different phenotypes
- Secondary pathway and functional enrichment assessments
- The Phenom Wide (PheWAS) process meant to increase the knowledge surrounding the pleotropic properties of the typical and rare variants
My primary research goal is to identify the genetic weaknesses of complex and rare disorders. I work to provide more insights into disease mechanisms and what therapeutic discoveries can be used for translational medicine in diverse populations. In addition, my colleagues and I focus on polygenic risk estimation of various conditions for each patient.
I am mostly interested in determining the genomic loci that function in the pediatric population since there’s a chance for early preventive procedures and long-term implementation of a therapy plan.
My early work in family linkage studies led to my current genetics research. Over the last two decades, I focused on researching the genetics of lupus and other complicated genetic conditions, with more than 35 peer-reviewed publications. My first project concentrated on parametric and non-parametric family linkage examinations for systemic lupus erythematous (SLE). This study quickly expanded to whole-genome genotyping, sequencing and imputation.
Some of our most notable findings include the discovery and validation of multiple SLE risk loci and other complicated conditions, including non-alcoholic fatty liver disease, obesity, autoimmune hepatitis and pleotropic impacts of previously known variants for other correlated diseases using the PheWAS approach.
In terms of the recognitions I have achieved throughout my career, I became the key investigator of the eMERGE (electronic MEdical Records and GEnomics) network. This is a National Human Genome Research Institute (NHGRI)-funded consortium of multiple major biorepositories throughout the United States that has been in operation since 2011.
I have more than 20 years of experience in the genetics field, and I first started working at the Cincinnati Children’s Hospital Medical Center in 2011. My research has been published in various journals, including World Journal of Surgery, Journal of Clinical Endocrinology and Metabolism, BMC Medicine, Genetic Epidemiology and Nature Communications.