Mark Anderson, MD, PhD
Robert B. and Michelle M. Friend Endowed Chair in Diabetes Research
Professor of Medicine
Graduate programs: BMS
Dr. Anderson studies a human autoimmune syndrome called Autoimmune Polyglandular Syndrome Type 1 (APS1 or APECED), classically manifested by an autoimmune attack directed at multiple endocrine organs. This disease is inherited in a monogenic autosomal recessive fashion and the defective gene is called Aire (for autoimmune regulator). Aire knockout mice, like their human counterparts, develop an autoimmune disease that is targeted to multiple organs. He and others have determined that Aire plays an important role in immune tolerance by promoting the expression of many self proteins in specialized antigen presenting cells in the thymus called medullary epithelial cells.
Sergio E. Baranzini, PhD
Professor in Residence of Neurology
Graduate Program Membership: BMI
Dr. Baranzini’s research focuses on mechanisms underlying susceptibility to common diseases, prediction of therapeutic response, and innovative approaches to drug discovery. Through a combination of wet lab (genetic and immunological approaches) and computational methods, the Baranzini lab investigates combinations of DNA variants that confer susceptibility to diseases in the context of the biological pathways, gene networks, and regulatory influences. In particular, efforts to integrate multiple data domains to understand susceptibility and phenotype heterogeneity (including response to therapeutic drugs) in multiple sclerosis (MS) are underway. In addition, research about the influence of the microbiome in MS susceptibility and expressivity is ongoing.
Sharon Chung, MD
Assistant Professor of Medicine
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. Current projects focused on systemic lupus erythematosus (SLE) include genome-wide association studies, more focused investigations of the major histocompatilibity complex, and DNA methylation studies of specific disease manifestations. Her clinical interest is systemic vasculitis, and she directs the UCSF Vasculitis Clinic. Her research activities in vasculitis include genetic, epigenetic, and transcriptional studies of small vessel vasculitides.
Lindsey Criswell, MD, DSc
Jean S. Engleman Distinguished Professor in Rheumatology
Chief, Division of Rheumatology, Department of Medicine
Graduate Program Membership: BMS
Dr. Criswell’s research program is the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus erythematosus. Through genome wide association studies, they have contributed to the identification of over 30 risk genes, highlighting key biologic pathways responsible for disease onset and progression. Her lab is also devoting substantial effort to refining genotype-phenotype associations, such as the specificity of genetic associations for serologic or clinical subphenotypes, and to studies designed to better understand ethnic differences in disease risk and outcome. Lastly, they have initiated several epigenetic studies that focus on DNA methylation.
Stephen Hauser, MD
Professor and Chair, Department of Neurology
Dr. Hauser studies genetic susceptibility to multiple sclerosis. For more than 15 years, Dr. Hauser has led the Multiple Sclerosis Genetics Group, a consortium of investigators at multiple sites across the US. He collaborated on the formation of an international MS consortium and is now the leader of a large consortium project on the genetics of MS. His contributions include efforts to identify informative MS families for linkage studies, collaboration on linkage studies and linkage disequilibrium studies to map genes, and finally larger scale association studies, both candidate genes and genome-wide, to identify MS susceptibility loci.
Jill Hollenbach, PhD, MPH
Associate Professor of Neurology
Graduate Program Membership: BMI
Dr. Hollenbach’s research focuses on analysis of the human leukocyte antigen (HLA) and killer immunoglobulin-like receptor (KIR) immunogenetic systems. Beside their critical role in transplantation, over 100 infectious, autoimmune, cancer and pharmacological diseases are associated with variation of HLA and KIR. Her work spans the population genetics, evolution, and influence on health of these genes, with emphasis on their role in neurological disease. Her lab also develops software tools specifically designed for these data. Other projects include examination of alternative measures of self-reported ancestry with respect to genetics, and the relationship between patient-reported and clinician-defined disability in multiple sclerosis.
Wilson Liao, MD
Dr. Liao’s research group is engaged in identifying the genetic and environmental determinants of skin diseases, particularly psoriasis. His group has contributed to the identification of more than 20 psoriasis genes through genome-wide association studies and functional mapping. Dr. Liao is a dermatologist and co-directs the UCSF Psoriasis Center, where numerous translational research projects are ongoing. Current projects include the identification of additional novel psoriasis genes, analysis of skin transcriptome expression networks,and analyzing the role of diet and the microbiome in modulating psoriasis severity, systemic inflammation, and associated co-morbidities.
Jorge Oksenberg, PhD
G.A. Zimmermann Endowed Chair in Neurology
Professor of Neurology
Dr. Oksenberg’s research is focused on human immunogenetics and autoimmunity, and he is a leading investigator in the International Multiple Sclerosis Genetics Consortium. The availability of sensitive and high-capacity methods for analysis of gene variation and expression, combined with the implementation of algorithms that predict behaviors in complex biological circuits, provides an outstanding opportunity to facilitate progress in the integration of multiple data sources and functional interpretation of physiological and laboratory results. His goal is to illuminate fully the genetics of autoimmune demyelination.
Jennifer Puck, MD
Professor of Pediatrics
Medical Director, Pediatric Clinical Research Center
Graduate Program Membership: BMS, PSPG
A pioneer in human primary immunodeficiencies, Dr. Puck’s research contributions include identification of genes for X-linked severe combined immunodeficiency (XSCID) and autoimmune lymphoproliferative syndrome (ALPS) and definition of the disease and gene defects in STAT3 in hyper-IgE syndrome. She designed the first newborn screening test for severe combined immunodeficiency (SCID) based on measuring T cell receptor excision circles (TRECs) in DNA isolated from infant dried blood spots and is the Immunology Expert for California’s SCID Newborn Screening Program. She uses genomics, cellular immunology and model organisms to study the underlying causes of low T lymphocytes and new approaches to treatments.
Mark Seielstad, PhD
Professor of Laboratory Medicine, Epidemiology & Biostatistics, and of Global Health Sciences
Graduate Program Membership: BMI, BMS
Dr. Seielstad’s research bridges epidemiology and population genetics. The main goal is to identify human genetic variation altering the risk of complex diseases involving immunity (e.g., autoimmunity and susceptibility to infectious diseases) and metabolism (e.g., type 2 diabetes). This puts an emphasis on technologies such as SNP genotyping, and next-generation sequencing to reveal and characterize polymorphisms in genome-scale data. Much of this work is carried out in geographically diverse human populations, which are also the subject of anthropological investigations that seek to characterize the global distribution of genetic variation.
Marina Sirota, PhD
Associate Professor, Institute for Computational Health Sciences
Dr. Sirota is interested in developing computational methods in integrative biology and applying these approaches in the context of disease diagnostic and therapeutics. She has extensive background in bioinformatics and data integration in the context of drug repositioning, drug target identification, clinical and molecular data analysis. Dr. Sirota has a long standing interest in studying genetic architecture in complex disease as well as novel applications of next-generation sequencing techniques with a special focus on autoimmune disease.
Chun Jimmie Ye, PhD
Department of Epidemiology and Biostatistics
Department of Bioengineering and Therapeutic Sciences
Graduate Program Membership: BMI, BMS
The Ye lab is interested in how genetics and environment interact to affect molecular phenotypes. The general strategy is to couple high-throughput sequencing with population genetics to measure and model cellular response to environmental challenges across large patient cohorts. The lab develops experimental approaches that enable the collection of functional genomic data en masse and computational methods that translate the data into biological insights. The initial focus is to study human immune cells in healthy and diseased patients to understand host pathogen interactions and its role in autoimmunity.