Agencia Estatal Consejo Superior de Investigaciones Científicas, (CSIC)

Principal Investigator: Javier Martin MD, PhD

Main tasks in the project and previous experience relevant to those tasks:

.-Contribution to the inventory and establishment of a pan-European biomaterial collection of RA and RA-like diseases (WP4 and WP11). Expertise in the design and performing collaborative RA, SLE, IBD and SSc genetic studies at national and international level.

.-Contribution to the establishment of guidelines, rules and consent protocols for the creation of new biomaterial collection. Expertise in using and developing biobanks. Javier Martin is the Scientific Director of the Andalusian Human DNA Bank which is part of the BBMRI.

.-Contribution to develop large-scale longitudinal and clinical database of RA and RA-like diseases (WP5). The clinicians members the group (Miguel A.Gonzalez-Gay, Benjamin Fernandez-Gutierrez, Alejandro Balsa) have a longstanding experience in the establishment of clinical data base and registries of RA, preRA, co-morbidities in RA , especially cardiovascular events in RA, outcomes and response to treatments. Norberto Ortego-Centeno has a large experience in the establishment of large clinical data base and registries of in RA-like diseases such as SLE and SSc.

.- Applying next generation sequencing to detect rare and new genetic variation to develop clinical biomarkers for predisposition, prognosis and therapy response in RA and RA-like diseases (WP6). Contribution to the analysis and integration of gene polymorphisms data into an online data base to relate genes to function (WP7). The group at CSIC has a longstanding experience in the identification of genetic markers implicated in RA and RA-like diseases, such as SLE and SSc. The CSC is fully equipped with high-throughput platforms for sequencing and genotyping (SOLID, Illumina).

.- Contribution to the comparison of the genetic basis of RA and RA-like diseases such as SLE and SSc. Our group at CSIC has a longstanding experience in the genetic basis of SLE and SSc. We participate in the SLEGEN consortium and in the European GWAS project directed by Prof Tim Vyse and in the RA Immunochip project through a collaboration with Prof Peter Gregersen. We have recently published the first GWAS in SSc (Nat Genet, 2010) in a large European SSc cohort.

Short profile of the staff who will carry out the work:

Javier Martín. MD degree (University of Granada 1982), PhD degree in Immunology (University of Granada, 1987)
Miguel Angel Gonzalez-Gay. MD degree (University of Santander, 1980) PhD degree (University of Santander, 1991). 
Alejandro Balsa. MD degree (University of Madrid, 1980), PhD degree (University of Madrid, 1991) Benjamin Fernandez Gutierrez. MD degree (University of Vasque Country, 1985), PhD degree (University of Madrid, 1994).
Norberto Ortego-Centeno. MD degree (University of Oviedo 1979), PhD degree (University of Granada, 1992). 
Blanca Rueda : Bachelors degree (2000) and PhD degree (2006) in Biology, University of Granada Ezequiel Martín: Bachelor degree (2005). PhD student Instituto de Salud Carlos III pre-doctoral fellowship, at the Department of Immunology, IPBLN, CSIC, Granada, Spain, under supervision of head of lab, Dr. Javier Martín .