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Javier Martin

Spanish National Research Council

Javier Martin


My research group is interested in elucidating the genetic variants involved in the development of various systemic autoimmune diseases, such as scleroderma, giant cell arteritis and rheumatoid arthritis, among others. We have managed to contribute considerably to the current knowledge of the etiology of these pathologies and my group led the first complete genome association study (GWAS) in scleroderma (Radstake et al., Nat Genet, 2010), where we identified that the HLA, IRF5, STAT4 and CD217 were the main genese responsible for the development of the scleroderma.

Currently, our research group leads two fascinating large-scale genetic studies involving a large number of European and North American countries. The first of the projects aims to decipher the genetic basis of giant cell arteritis, a systemic vasculitis that can present very serious complications such as blindness or stroke, through large-scale genetic studies. The second major project in which we are involved is to carry out a large GWAS study in systemic sclerosis that will allow us to comprehensively understand the genetic basis of this disease.