I’ve been involved in research and studying the genetics of lupus and related autoimmune diseases. My research interests are:
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.
MD: National University (s.beheshti) of Tehran, Tehran, Iran, 1989.
Certification: USMLE certified, 1996.
Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. 2023; 28:437-448.
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biology. 2022; 23.
Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery. Nature Communications. 2022; 13.
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. Genome Medicine. 2022; 14.
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. Obesity Research. 2022; 30:2477-2488.
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits. Nature Communications. 2022; 13.
Multiancestral polygenic risk score for pediatric asthma. Journal of Allergy and Clinical Immunology. 2022; 150:1086-1096.
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. Genetics in Medicine. 2022; 24:2123-2133.
Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1. Frontiers in Genetics. 2022; 13.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. American Journal of Human Genetics. 2022; 109:1366-1387.