Javier Martin, MD, PhD, is currently Professor at Institute of Parasitology and Biomedicine, a center located in Granada, that belongs to the Spanish National Research Council. The scientific interest of his group is focused on the genetic basis of autoimmune diseases, mainly those with a rheumatologic component, specifically systemic sclerosis (SSc). Our main objective is to identify genetic factors that influence susceptibility and/or severity to these pathologies, which on one hand will help us to know the pathophysiological mechanisms that underlie the development of these diseases and on the other can allow us to develop new and more specific diagnostic tools and therapeutic targets. Our most noteworthy scientific achievements come from the work on SSc genetics that have positioned our group as the international leader in the genetic/genomics of SSc. Remarkably, we recently conducted the largest GWAS in SSc identifying 27 loci independently associated with SSc and the most relevant molecular pathways implicated in the disease. Furthermore, data mining analysis of SSc GWAS data allowed us a comprehensive analysis of the MHC region in SSc identifying differential HLA associations by clinical and serological subtypes with possible application as biomarkers of disease severity and progression. In addition, based on GWAS data, we successfully implemented a genomic risk score (GRS) in SSc with potential application in the clinic. On the other hand, we have contributed to the better understanding of the pathogenesis of SSc by investigating the differential whole blood gene expression occurring in SSc patients through a genome-wide transcriptome analysis and by the identification of the genetic variants that affect gene expression (eQTLs) in SSc. In a very recent study, we used promoter capture HiC (pCHi-C) in two of the most relevant cell types in SSc pathogenesis, CD4+ T cells and CD14+ monocytes from SSc patients and healthy controls, identifying new target genes and confirming others for SSc GWAS loci in these two cell types Our medium-term research is aimed at deciphering the functional consequences of genetic variants associated to SSc through the application of new genomic, epigenomic and transcriptomic techniques.
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