Genomics of Complex Diseases


The Group of Genomics of Complex Diseases of the Sant Pau Hospital Research Institute is an interdisciplinary translational research team, with expertise in several scientific domains: Omics Big Data, Molecular Biology, Statistics and Bioinformatics.To complement and enhance our current research lines on Genomics of Thrombosis and Sports Medicine, we have recently integrated the Vascular Biology Group (LABVI) together with the Vascular Surgery and Angiology clinical team of Sant Pau Hospital. This means new capabilities to the group (expertise in cellular and tissue biology, biochemistry of inflammation mediators and functional analysis), creating a unique Vascular Research line with more competitive orientation and big scientific potential. The resulting group constitutes a consolidated basic and clinical team with translational and groundbreaking research lines, with the aim of transfer all the new knowledge that will be generated in Omics and molecular basic research to the clinical practice, working in the different areas of research with special focus on Personalized and Precision Medicine.

Main lines of Research

Angiology and Vascular Biology.

  • TAGA Project: Genomic basis of Abdominal Aortic Aneurysm.

Venous Thrombosis and Thrombosis and cancer

  • GAIT Project: Genetic Analysis of Idiopathic Thrombophilia
  • RETROVE Project: Risk of Venous Thromboembolic Disease.
  • OncoThromb Project: New biomarkers related with Thrombosis and Cancer.
  • AIRTOP and MIRTO Projects: Assesment of the Individual Risk of Thrombosis in Oncology Patients.

Genomics in Sport Medicine

  • SUMMIT Project (Health in sport and its limits): Marathons and Ultra-trail races. Biological, genetic and clinical impact.
  • SHERPA_Everest’2017 Project. Exposition to extreme environmental hypoxia and its effect on the inflammatory and cardiopulmonar response: Biological, genetic and clinical impact.
  • Xtreme-Genetics K2 project. Expedition to K2 peak. Biological, genetic and clinical impact.

Transversal Research Areas

  • Bioinformatics  and Epigenetics.
  • Translational Research and Personalized Medicine

Scientific Challenges

  • Analysis of Omics data (Genomics, transcriptomics, epigenomics) in the field of complex diseases with translational approach in cooperation with clinical groups.
  • Identify new biomarkers (genetic, epigenetic and/or plasmatic) that determine the susceptibility to complex diseases.
  • Identify new mechanisms involved in the development and progression of complex diseases.
  • Development of predictive algorithms that integrate the genetic, biological and clinical information of the patients (Personalized Medicine).

 Scientific Collaborations

With other IIB Sant Pau Groups and Sant Pau Hospital

  • Thrombosis and Haemostasis, Dr. JC Souto: GAIT, MIRTO, RETROVE Projects.
  • Clinical Hematology, Dr. J Sierra: MIRTO Project.
  • Neurology, Dr. J. Marti: MIRTO Project. Elena Jimenez: Lipoproteic biomarkers. ICTUS.
  • Otorhinolaryngology. Dr. M Quer and Dr. X Leon. Prediction of response to head and neck cancer.
  • Regulatory Mechanisms of Cardiovascular Remodeling. Dra. C. Rodriguez  and Dra. M Galán.
  • Participation en CIBERCV (CIBER of cardiovascular diseases). Dr. J González.
  • General and Digestive Surgery. Dra. C Balaguer
  • Clinical Pharmacology. Dra. MA Mangues and Dra. M Gomis. AIRTOP Project.
  • Neumology Service, Dr. O Sibila: SUMMIT, SHERPA Projects.


  • Clinical Oncology Department, Hospital Gregorio Marañón, Madrid,Dr. A Muñoz: ONCOTHROMB, AIRTOP Projects.
  • Clinical Department of Hematology and Hemostasis. University of Wien, Austria. Dra. I Pabinger. ONCOTHROMB, MIRTO Projects.
  • Dr. J Schwenk. SciLifeLab, Sweeden: GAIT Project
  • Department of Genetics, University of Genève, Switzerland, Dr. M Dermitzakis and Dr. A Viñuela: GAIT Project.
  • Institute of Biological Psychiatry, Sankt Hans Hospital. Roskilde, Denmark, Dr. A Buil: Bioinformatics of Complex diseases, GAIT Project.
  • Laboratory Haematology, Hospital Timone Marseille, France, Dr. P Morange: GAIT, VEREMA Projects.
  • INSERM UMR_S1219 – Bordeaux Public Health Center. Bordeaux, France. Dr. DA Tregouet: GAIT, VEREMA Projects.
  • Haematology Department, Karolinska Hospital, Sweden, Dr. J Odeberg: VEREMA Project.
  • Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid. Dr. JM Redondo.
  • Hospital Clínic de Barcelona. Otorhinolaryngology Service. Prediction of response to head and neck cancer. Dr. FX Avilés.
  • Hospital Vall d’Hebron, Barcelona. Vascular Surgery Service. Dr. S Bellmunt.
  • Bac de Sang i Teixits (BST). Dr. F Vidal.
  • Centre de Recerca en Enginyeria Biomèdica, Universitat Politècnica de Catalunya, Barcelona, Dr. A Perera: SUMMIT Project.
  • CAR, Centre d’Alt Rendiment Sportiu, Sant Cugat. Dr. F Drobnic: Sport Medicine Projects.
  • CHARGE, International network consortium. Hemostatic factors studies.
  • GIANT, International network consortium. Anthropometric factors studies.
  • GLGC, International network consortium. Lipidic factors research.

With Biopharma companies

  • GenIncode. Development of Genetic Diagnostics in Thrombosis.
  • Leo-Pharma. Prediction of Thrombosis Risk in cancer patients.

This website uses cookies to improve the browsing experience and perform analytical tasks. If you continue browsing, we understand that you agree our cookies policy. More information