Gregersen’s team recently identified a polymorphism in TNIP1 that is strongly associated with myasthenia gravis, an autoimmune disorder that affects the neuromuscular junction, causing weakness in patients. In addition to associations with systemic lupus erythematosus and rheumatoid arthritis, Dr. This gene is known to control signaling pathways that are critical to the immune response, and alterations in this gene can lead to autoimmunity in animals. Together, these observations suggest that the CSK variant increases susceptibility to lupus by affecting multiple aspects of B lymphocyte development and activation. Furthermore, his team was able to demonstrate the disease associated CSK risk variant actually affects the proportions of developing B lymphocytes in human umbilical cord blood. Strikingly, the CSK risk variant is associated with an increased ‘activation state’ of B lymphocytes in human blood. Gregersen’s team recently demonstrated that variants in CSK are associated with systemic lupus erthematosus1. These studies include work on the following genes: CSK (c-Src tyrosine kinase)Ĭsk interacts with another protein, PTPN22, the gene that is known for associating strongly with multiple autoimmune diseases. Several of these genes for autoimmunity are potential targets of new drugs that may be able to modify activation thresholds, in order to either enhance or reduce aspects of the immune response. Gregersen is pursuing functional studies of a number of newly defined risk genes for autoimmunity, particularly genes that regulate the thresholds for activation of the immune system. At least 46 genetic regions have been identified for rheumatoid arthritis, but it is likely that many more remain to be discovered. Gregersen’s ongoing studies in the laboratory include international collaborative efforts to achieve a comprehensive description of the genetics of autoimmune diseases, with a particular focus on rheumatoid arthritis and systemic lupus erythematosus. ![]() He has longstanding interests related to the genetics of absolute pitch and synesthesia, as well as studies of immunological aspects of autism.ĭr. In addition, he has spearheaded the development of a robotic biorepository and informatics resources to support these studies, including a large normal control registry with a view toward understanding genotype-phenotype relationships in both normal and disease populations. The prestigious Crafoord prize is an annual science prize established in 1980 by Holger Crafoord, a Swedish Industrialist. Gregersen with the Crafoord prize for his genetic research in rheumatoid arthritis. On May 2, 2013, the Royal Swedish Academy of Sciences presented Dr. ![]() Gregersen, MD, has been working in the area of genetics for over two decades and led several major international consortia to study the genetics of rheumatoid arthritis, systemic lupus, myasthenia gravis, myositis and other autoimmune disorders. Originally trained as a rheumatologist, Peter K.
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