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IMM Conference Big Data: Professor Marta Alarcón-Riquelme

The PRECISESADS Project: Towards a new molecular classification of Autoimmune Diseases by use of Big Data

Systemic autoimmune diseases share susceptibility genes and gene expression profiles. In many cases, the diseases are difficult to diagnose because of clinical overlap. Advances in new therapies are impeded by the large disease heterogeneity. The focus of the presentation is to show how PRECISESADS is leading the way towards finding new molecular biomarkers by recruiting and obtaining a large number of samples and data from patients with several systemic autoimmune diseases, and joining their data disregarding of the clinical diagnoses. Data that is being obtained includes cellular phenotyping, measurement of cytokines and autoantibodies, genetic characterization and the definition of epigenetic marks, as well as metabolomic profiles and transcriptomic analysis in individual cells and in blood. Systems biology approaches are used to define groups or clusters of individuals that can be differentiated, and the use also of gene expression data to define potential new therapies.

Short biography

Marta Alarcon Riquelme is professor and head of medical genomics, at the Center for Genomics and Oncological Research (GENyO), Granada, Spain. Her research has focused on the identification of the genetic basis of SLE as a first building block towards understanding how susceptibility genes lead to cellular abnormalities and eventually to clinical disease. She is at present leading the Innovative Medicine Initiative project PRECISESADS of the European Union, aimed at the molecular reclassification of systemic autoimmune diseases. The project uses omics-derived integrated Big Data to define novel disease clusters and potentially new disease biomarkers to improve disease diagnosis.