Genetics and Epigenetics

Sharon Chung, MD

The central goal of Dr. Chung's research program is to discover genetic and epigenetic factors that influence autoimmune disease susceptibility and its manifestations, in order to identify biologic pathways involved in disease pathogenesis and potential targets for therapeutic intervention. Dr. Chung’s research and clinical program focuses on the study of vasculitis, a group of life-threatening diseases caused by inflammation of the blood vessels. As the director of the UCSF Vasculitis Clinic, she works with other UCSF specialists to provide expert care in diagnosing and treating these rare and intensively complex diseases. The UCSF Vasculitis Clinic is a member of the Vasculitis Clinical Research Consortium (VCRC), and the clinic participates in ongoing VCRC studies. Dr. Chung also leads state-of-the-art genetic and epigenetic research studies, and collaborates with national and international research networks, to help identify the biologic mechanisms that lead to vasculitis in order to develop less toxic treatments and more informative diagnostic tests. In addition, Dr. Chung is also involved in the studies that aim to define the genetic and epigenetic basis for systemic lupus erythematosus (SLE) and its specific disease manifestations.

Lindsey Criswell, MD, MPH, DSc, UCSF Vice Chancellor for Research

The focus of my research program is the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). My research unit has devoted substantial effort to the performance of genome wide association (GWA) and other genetics studies, which have led to the identification of over 30 genes that contribute to risk and outcome of these disorders. This work has also highlighted key biologic pathways responsible for disease onset and progression, which can inform more basic research to define the mechanism of these genetic associations. Given the heterogeneity of these disorders, we are also devoting substantial effort to the refinement of genotype-phenotype associations, such as the specificity of genetic associations for serologic or clinical subphenotypes. Several genes we have been studying, including STAT4 and TNFAIP3, are also of interest due to emerging evidence supporting their association with multiple autoimmune disorders and phenotypes. Given the strong association of the major histocompatibility complex (MHC) region with multiple autoimmune disorders, we are performing fine mapping studies of this region in order to further define the complex genetic associations of this region with SLE, RA and related phenotypes. We are also pursuing studies designed to better understand ethnic differences in autoimmune disease risk and outcome. Lastly, we have initiated several recent studies that seek to define the contribution of epigenetic factors, particularly DNA methylation patterns, to autoimmune disease risk and outcome.

Cristina Lanata, MD

Dr. Lanata’s research focuses on characterizing disease heterogeneity of Systemic Lupus Erythematosus (SLE) by utilizing translational population-based studies, with an emphasis in vulnerable populations. By leveraging genetics, epigenetics and transcriptomics, her goal is to able to sub-type SLE patients into distinct groups that can be targeted, therefore contributing to personalized medicine in SLE. She is especially interested in the prognostic implications of DNA methylation changes in SLE heterogeneity and outcomes and in investigating the role of early life events (such as in-utero exposures and resultant effects on DNA methylation) that could lead to SLE and disease heterogeneity.