Dr. Nunzio Bottini
Nunzio Bottini, M.D., Ph.D, is a Professor of Medicine in the Division of Rheumatology, Allergy and Immunology at the University of California, San Diego. Dr. Bottini is interested in the genetics of autoimmune disease and the role of tyrosine phosphatases in signal transduction and in human disease.
Dr. Bottini received his M.D. in 1996 from the University of Rome, where he also obtained his Ph.D. and completed his internship and residency. He received postdoctoral research training in biochemistry and signal transduction at the Sanford Burnham Medical Prebys Medical Discovery Institute in La Jolla, and completed a clinical fellowship in Rheumatology at the University of California, San Diego. Dr. Bottini held appointments as an Assistant Professor of Medicine at the University of Rome, an Assistant Professor at the University of Southern California, and an Associate Professor at the La Jolla Institute for Allergy and Immunology. Dr. Bottini's laboratory is located within the Musculoskeletal Science Center within the UCSD Altman Clinical and Translational Research Institute.
Dr. Bottini serves on grant review panels for the NIH, the Rheumatology Research Foundation, and the Arthritis Foundation, and also serves as a reviewer for various scientific journals.
About the Lab
The Bottini laboratory studies the mechanism of action of signaling molecules encoded by human autoimmune disease-predisposing genes and also analyses signal transduction pathways in pathological specimens from patients. The goal is to dissect relevant intracellular pathways to design new methods for disease activity monitoring and to identify new treatment strategies. The laboratory specializes in the study of a family of signaling enzymes called protein tyrosine phosphatases, which regulates phosphorylation of proteins on tyrosine residues.
The first focus of the laboratory is on phosphatase genes that increase risk of autoimmune disease. Dr. Bottini was the first to report that a mutation in the PTPN22 gene, encoding a phosphatase, increases the risk of autoimmunity in humans. Currently PTPN22 is ranked as a major gene for rheumatoid arthritis, juvenile diabetes, and lupus. Dr. Bottini's laboratory is focused on understanding the mechanism of action and regulation of PTPN22 with the goal of developing personalized ways to treat disease in carries of autoimmune-predisposing gene variants.
A second focus of the laboratory is on studying biochemical signaling (focusing in particular on the role of phosphatases) in tissue resident cells in arthritis, scleroderma and other diseases. The goal is to develop ways to inhibit the disease promoting action of these cells to help control disease activity without depressing the ability of the immune system to fight against infectious and tumors.
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