Genómica de Enfermedades Complejas

Principales lineas de investigación

Investigación sobre trombosis en enfermedades complejas y epigenomicas:

  • GAIT Project: Genetic Analysis of Idiopathic Thrombophilia
  • RETROVE Project: Risk of Venous Thromboembolic Disease
  • GOLIATH Project: Epigenomics of thrombosis

Investigación sobre Trombosis y Cancer:

  • OncoThromb Project: New biomarkers in Thrombosis and Cancer
  • MIRTO Project: Modeling the Individual Risk of Thrombosis in Oncology

Osteoporosis: GAO Project

Aortic aneurysms: TAGA Project
Chronic Obstructive Disease: GEPOC Project

Genómica en Medicina Deportiva:

Performance, effort and recovery:

  • SUMMIT Project (Health in sport and its limits): Marathons and Ultras

Exposure to hypoxia in extreme environments:

  • SHERPA_Everest’2017 Project


Analysis of data – patients of complex diseases:

  • Salambó Project: Bioinformatics Platform


  • Analysis of Omics data (Genomics, transcriptomics, epigenomics) in the field of complex diseases with transversal and 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).

The achievement of these objectives will directly affect the improvement of Diagnosis, Prognosis, Prevention and Treatment of diseases with complex genetic basis.


Colaboraciones con otros grupos de investigación del IIB Sant Pau

  • Thrombosis and Haemostasis, Dr. JC. Souto: GAIT, MIRTO, RETROVE Projects.
  • Internal Medicine, Dr. J. Casademont: GAO Project.
  • Angiology, Vascular Biology and In;ammation, Dr. JR. Escudero, Dra. M. Camacho: TAGA, GAIT Projects.
  • Neurology, Dr. J. Marti: MIRTO Project.
  • Medical Oncology, Dr. Barnadas: MIRTO Project.
  • Clinical Hematology, Dr. J. Sierra: MIRTO Project.
  • Neumology, Dr. O. Sibila: SUMMIT, SHERPA Projects

Colaboraciones externas

  • Clinical Oncology Department, Hospital Gregorio Marañón, Madrid,Dr. A. Muñoz: ONCOTHROMB Project.
  • Centre de Recerca en Enginyeria Biomèdica, Universitat Politècnica de Catalunya, Barcelona, Dr. A. Perera: SUMMIT Project.
  • Laboratory Haematolgy, Hospital Timone Marseille, France, Dr. P. Morange: GAIT, VEREMA Projects.
  • Department of Genetic, University of Genève, Switzerland, Dr. M. Dermitzakis and Dr Ana Viñuela: GAIT Project.
  • Department of Cardiology, Karolinska Institut, Sweden, Dra. M. Sabater: GAIT Project.
  • 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.
  • Institute of Biological Psychiatry, Sankt Hans Hospital. Roskilde, Denmark, Dr. A. Buil: Bioinformatics of Complex diseases, GAIT Project.
  • Department of Internal Medicine. Clinical Department of Hematology and Hemostasis. University of Wien, Austria. Dra. Ingrid Pabinger. OncoThromb, MIRTO Projects.
  • Ferrer Incode. Development of Genetic Diagnostics in Thrombosis.
  • Leo-Pharma. Prediction of Thrombosis Risk in cancer patients.
  • STAGO. Development of New Biomarkers in Thrombosis.
  • Boehringer Ingelheim. Modeling the Individual Risl of Thrombosis in Oncology (MIRTO).

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