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 laboratory
specializes in the study of a family of signaling enzymes called protein
tyrosine phosphatases, which regulates phosphorylation of proteins on tyrosine
The first focus of the laboratory is on two
phosphatase genes (PTPN22 and PTPN2) that increase risk of autoimmune disease.
Dr. Bottini was the first to report that a mutation in the PTPN22 gene increases
the risk of autoimmunity in humans. Currently both PTPN22 and PTPN2 are ranked
as major genes for rheumatoid arthritis, juvenile diabetes, inflammatory bowel
disease, and lupus. 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 and scleroderma.
Bottini's laboratory is focused on understanding the mechanism of action and
regulation of phosphatases with the goal of developing ways to treat autoimmune
disease that are personalized and do not depress the ability of the immune
system to fight against infections and tumors.
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