Guillermo Barturen

Dec 1, 2024 | nature.com | Guillermo Barturen |Marta Alarcon-Riquelme

The identification of shared molecular mechanisms across systemic inflammatory autoimmune diseases with overlapping clinical manifestations has prompted research into the underlying genetics that could be driving these manifestations; elucidating these genes could aid in the diagnosis, treatment and outcome prediction of these complex diseases.

Oct 29, 2024 | acrjournals.onlinelibrary.wiley.com | Javier Martinez‐Lopez |Martin Kerick |Guillermo Barturen |Lorenzo Beretta |Isabel Almeida |Lourdes Ortiz‐Fernandez | +4 more

INTRODUCTION Systemic sclerosis (SSc) is a rare immune-mediated inflammatory disease (IMID) characterized by immune dysregulation, vasculopathy, and cutaneous and internal fibrosis.1 SSc is an heterogeneous disorder affecting the connective tissue from which patients can be classified based on the extension of fibrosis as having limited cutaneous SSc (lcSSc) or diffuse cutaneous SSc or by their serological status.2 Recent genome-wide association studies (GWASs) have identified multiple...

Jul 15, 2024 | nature.com | Olivia Castellini-Pérez |Guillermo Barturen |Martin Kerick |Raúl López-Domínguez |Javier Martin |Javier Martín | +3 more

AbstractThe heterogeneity of systemic lupus erythematosus (SLE) can be explained by epigenetic alterations that disrupt transcriptional programs mediating environmental and genetic risk. This study evaluated the epigenetic contribution to SLE heterogeneity considering molecular and serological subtypes, genetics and transcriptional status, followed by drug target discovery.

Jun 1, 2024 | biorxiv.org | Paulina Rybakowska |Sofie Van Gassen |Guillermo Barturen |Carlos Pérez Sánchez |Carlos Sanchez

AbstractBackground: Systemic autoimmune diseases (SADs) are characterized by internal heterogeneity, overlapping clinical symptoms, and shared molecular pathways. Therefore, they are difficult to diagnose and new tools allowing precise diagnosis are needed. Molecular-based reclassification studies enable to find patterns in a diagnosis-independent way. Objective: To evaluate the possibility of using high-content immunophenotyping for detecting patient subgroups in the context of precise treatment.