The research area that I’m most interested in is juvenile idiopathic arthritis (JIA). I’m especially drawn to understanding the genetic risk for JIA and JIA-uveitis. I enjoy pursuing genetics research that will help us understand disease heterogeneity and medication responses. I also concentrate on exploring possible environmental effects that may cause the development of juvenile idiopathic arthritis, including viruses.
My colleagues and I are attempting to identify genetic variants associated with disease, such as juvenile idiopathic arthritis. For instance, when a child arrives in the clinic, there is no evidence-based approach to figure out which patient will have a positive outcome or respond to a specific medicine. Eye disease (uveitis) is a serious comorbid disease in JIA that can cause vision loss or blindness. There is no method for determining which children could develop eye disease in the future — and we hope to change this.
As a pediatric disease, there are insights gained from delineating disease phenotype relative to adult disease, which has a 10-fold greater incidence and some shared disease pathology. Uncovering these associations may enable the translation of clinical trial results for children. Our genetic research defined genetic variants associated with disease, which are rarely found in the genes themselves.
Therefore, our research looks to determine the role for genetic variants in disease. JIA genetic research requires a collaborative method for an effective cohort size. We have several decades of collaborations with our rheumatology colleagues at the Cincinnati Children’s Hospital Medical Center, the national Childhood Arthritis Rheumatology Research Alliance and pediatric rheumatologists and geneticists in the United Kingdom.
To follow our path as leaders in the JIA genetics field, we stay nimble toward modernizations and the collaborations that the Center for Autoimmune Genomics and Etiology (CAGE) offers and are concentrated on overcoming obstacles in accepting the systems that have evaded this sector over the last 30 years.
The most impressive discoveries in our lab include publishing papers unfolding JIA risk variants and pursue mining these databases. Along with investigators from Harvard, we published review articles that concentrated on the heterogeneity of JIA and their association with adult types of arthritis.
We received funding from the National Institutes of Health (NIH) for the PROMOTE study. We hope to detect genetic variation that will predict a patient’s response to methotrexate and the genetic variation associated with methotrexate metabolite levels. We assume this research will be the basis for a tool that helps providers choose the best treatment for rapid and effective therapy of JIA.
I was led to my research interests when I worked on predicaments associated with understanding the immunology of JIA during my post-doctorate work in molecular genetics at the College of Medicine at the University of Cincinnati in the early 1990s. These successes resulted in me becoming a faculty member in the Division of Rheumatology at the Cincinnati Children’s Hospital Medical Center in 1994. My studies in JIA have been sustained over the last 25 years. They have been part of significant advancements in understanding the human genome and support Cincinnati Children’s Hospital's investment in CAGE.
One of my achievements has been successfully leading an NIH-funded P30 Rheumatic Diseases Resource and Core Center for almost 20 years. This work supports the rheumatic disease research community by delivering specialized core services in function genomics, cell phenotyping, biobanking and bioinformatics, along with funding pilot projects and providing educational prospects.
In addition, my laboratory’s experience in biobanking has stretched to the national Childhood Arthritis and Rheumatology Research Alliance (CARRA) community. In 2017, the tissue repository received formal recognition as the “US CARRA Biorepository.”
I have more than 30 years of experience in the field of genomics. I first started working at the Cincinnati Children’s Hospital in 1994. My research has been published in multiple journals, such as Current Opinion in Rheumatology, Lupus Science and Medicine, Arthritis and Rheumatology and Nature Communications.
Molecular basis of juvenile rheumatoid arthritis; large-scale integrative analysis of gene expression, polymorphism and other genomic data with clinical data
Professor, UC Department of Pediatrics