The main research interest of the Integrative Genomics Lab revolves around the genetic basis of disease in humans. We identify emerging questions into complex disease etiology and tackle them using an integrative approach at the interface of statistical, quantitative and evolutionary genomics. Through collaboration with doctors working in the clinic, we analyze omic profiles of patient cohorts to illuminate our understanding of disease pathogenesis and, eventually, gear this knowledge towards translational advances. Our high vision focuses on achieving precision medicine: being able to use individual profiles to personalize health treatment and tailor medical care to patient needs. 

Research line 1: Coupling statistical genetics with multi-omics to understand disease
We want to characterize the genetic regulatory programs that modulate risk of disease. We capitalize on two developments. First, large-scale genomic studies have discovered thousands of genetic variants that increase susceptibility to disease. Second, high-throughput methodologies can now generate multi-omic profiles to characterize the activity of cells and tissues in each person. Through integrative approaches, we can understand how genetic risk and lifestyle factors converge at the molecular level to shape the risk of developing disease. We pay special attention to discovering compensatory responses that may explain the heterogeneity in symptoms that we see at the clinical level. We focus on inflammatory and metabolic disease, but we are happy to collaborate with researchers working on other disease classes. 

Research line 2: Individualization of predictions across the natural history of disease
A central goal of precision medicine is to deliver numerical scores that can assess the risk of disease and predict response to drug therapy for everyone. Building from an omics personality perspective, we posit that longitudinal profiling of each person will be key to implement precision medicine approaches. We integrative genomic knowledge with insights from other omics like transcriptomics, proteomics, and metabolomics, to stratify the population and develop integrative models that permit to characterize the disease trajectory of each patient across time.  

Research line 3: Multi-omics of preclinical disease to propose preventive strategies
Modern medicine is reactive: it focuses on management of patients that are diagnosed after symptoms are established. This static vision considers diseases as chronic and incurable. This approximation trickles down into basic research. Rather than targeting the root causes that modify disease course, most studies focus on comparisons of patients and healthy controls. We are particularly interested in characterizing the preclinical stages of disease. Our goal is to discover gene signatures that are active in the transition from healthiness to disease. We posit that uncovering the genetic and environmental factors that influence these signatures maximizes the chances to discover biomarkers that can be used for prevention of chronic disease. The EARLY study for preclinical inflammatory bowel disease is our flagship initiative in this area. 

In summary, our research strengthens the genomics and bioinformatics research portfolio at the CIC bioGUNE. We provide an integrative –omics perspective aimed at helping towards successful implementation of precision medicine solutions in the Basque Country. If you are interested in our work, or are considering joining the lab (at any level), please contact us at umartinez@cicbiogune.es 

Collaborations
We have established a portfolio of collaborations with experts in disparate fields, including both basic and clinical researchers at the Basque, Spanish, and international level. Our active collaborations with clinicians include, among others, Iago Rodriguez-Lago (Hospital de Galdakao, Spain), Luis Bujanda (BioGipuzkoa, Spain), Maria Chaparro and Javier Gisbert (Hospital La Princesa, Spain) and Polychronis Pavlidis (King’s College London). Focusing on more basic profiles, we work closely with Oscar Lao (Barcelona, IBE-UPF/CSIC, artificial intelligence for genomics, Spain), Jorge Ferrer (Barcelona, CRG, Diabetes genomics in the context of IMPaCT T2D, Spain) and Eduard Porta-Pardo (Barcelona, JCLRI, spatial omics, Spain).

Links
Webpage: https://sites.google.com/view/integrative-genomics/home

Latest Publications