The University of Texas Health Science Center at Texas
McGovern Medical School
Department of Internal Medicine, Division of Rheumatology

My research is focused on the pathogenesis of the autoimmune disease systemic sclerosis (SSc), commonly referred to as scleroderma.  The UTHealth Houston Division of Rheumatology has built an infrastructure for SSc research over three decades, including blood samples from >3,000 unique SSc patients and >1,000 healthy controls, a longitudinal SSc cohort of >450 patients, pipelines for generation and analyses of molecular and clinical data, and mouse and cellular models for various aspects of SSc pathogenesis.  Our division has led and continues to lead studies identifying genetic susceptibility loci and patterns of dysregulated gene expression in SSc, laying a foundation for novel, hypothesis-driven research on underlying disease mechanisms.  In my NIH Career Development Award (K08), I am investigating the mechanistic basis by which a genetic variant in the coding region of DNASE1L3 (doxyribonuclease 1-like 3) increases SSc susceptibility.  Utilizing a mouse model in which autoimmunity spontaneously develops, primary immune cells and plasma samples from SSc patients, and in vitro enzymatic assays, I am elucidating the biochemical and immunologic consequences of the DNASE1L3 genetic variant that underlie its association with SSc.  An additional focus of my research is dysregulated skin gene expression in SSc.  We have found that skin gene expression in SSc is dynamic, with prominent inflammatory and fibrotic gene expression patterns early in the disease course that tend to diminish over time.  We have recently developed the expertise to generate and analyze single cell RNA-Sequencing of skin samples, which will provide a rich data source for hypothesis generation in future research.

PubMed

McGovern Medical School Faculty

Education & Training

MD/PhD - UT Southwestern Medical Center at Dallas - 2013