The Disease Genomics Group now forms part of the Program for Predictive and Personalized Medicine of Cancer at the Germans Trias i Pujol Research Institute (IGPT) on the Can Ruti Campus.  Please see the IGTP website here.

This page is currently being kept up to date, for information about the institute please see the IGTP page.


The progression from health to disease is an extremely complex process.  It is modified by multiple risk factors that are genetically and environmentally determined, both before  onset of the disease or diagnosis, and also through life due to changing exposures to risk  and life-style habits.

In aging populations, such as the western populations, there is an increasing load of comorbidity of common disorders, adding a new piece to the puzzle of finding the etiological causes of disease. The integrative study of multiple conditions will offer a unique opportunity for the integration of data to allow the identification of new and previously unexplored relationships between different diseases and conditions, allowing the identification of individual determinants that confer susceptibility or resistance to disease or treatment.

Our Research

Research Goals

The main research goals of the group focus on: elucidating how genomic factors modify health status during life; what the hidden heritability of the complex traits is and how we can incorporate this genomic information into predictive models, for disease, treatment, or prognosis.

Major Research Lines:

• Genomic epidemiology of cancer and common disorders
• Development of methods to integrate Electronic health records (EHR) into genomic research
• Integration of population genomic variants into predictive models for cancer and common disorders (prevention, prognosis, prediction)
• Promotion of patient involvement in health and disease management through a biobank open resource

Research Lines Underway

Project 1. GCAT/Genomes for Life

Cohort study of the Genomes of Catalonia. This project will prospectively collect and store biological samples and health related data (epidemiological and clinical) from 50,000 individuals resident in the Catalonia region.  The study will follow up on donors in the coming decades to investigate the genomic, epigenomic and also environmental risk factors present and their modifying effects on cancer and other chronic diseases with multifactorial origins. The GCAT project is developing an exclusive dedicated biobank to house the material and data of participants and defining a data sharing policy that will foster multidisciplinary research projects and promote the protection of participant’s rights. This way it will maximize the potential of  advances in research for the entire community.

This is a transversal IMPPC project in the Genomics and Epigenomics of Cancer Prediction Program led by Jun Yokota. The GCAT project is co-directed by Manuel Perucho and Rafael de Cid.

Project 2. Rare and ultra-rare frequency private population variation in cancer genes

Electronic Health Records will be explored and used as a source of data for subject phenotyping. This will be applied in a Phenotype Reverse Association study (PheWAS).


The Disease Genomics Group has formed a new partnership with the Maelstrom Research Group  at the Research Institute of the McGill University Health Centre (RI-MUHC) in Montreal, to implement e-GCAT, a web-based tool for patient recruitment and epidemiologic data collection, specifically designed for the GCAT cohort study.

To see our group's activities please follow this link


To Contact the Disease Genomics Group please contact

Rafael de Cid
IMPPC Biobank
Ctra de Can Ruti, Camí de les Escoles s/n
08916 Badalona

Reception: (+34) 93 554 30 50
Direct Line: (+34) 93 557 2838

Disease Genomics

Publicaciones relevantes

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M. Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing. Eur. J. Hum. Genet. 2015 Jul; 23(7): 929-34

Fonseca F, Gratacòs M, Escaramís G, de Cid R, Martín-Santos R, Farré M, Estivill X, Torrens M. ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment. Eur Neuropsychopharmacol 2014 Mar; 24(3): 420-4

Morales E, Bustamante M, Vilahur N, Escaramís G, Montfort M, de Cid R, Garcia-Esteban R, Torrent M, Estivill X, Grimalt JO, Sunyer J. DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood. Am. J. Respir. Crit. Care Med. 2012 May; 185(9): 937-43

Sunyer J, Basagaña X, González JR, Júlvez J, Guerra S, Bustamante M, de Cid R, Antó JM, Torrent M. Early life environment, neurodevelopment and the interrelation with atopy. Environ. Res. 2010 Oct; 110(7): 733-8

Fonseca F, Gratacòs M, Escaramís G, de Cid R, Martín-Santos R, Fernández-Espejo E, Estivill X, Torrens M. Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes. Mol Diagn Ther 2010 Jun; 14(3): 171-8

Castro-Giner F, de Cid R, González JR, Jarvis D, Heinrich J, Janson C, Omenaas ER, Matheson MC, Pin I, Antó JM, Wjst M, Estivill X, Kogevinas M. Positionally cloned genes and age-specific effects in asthma and atopy: an international population-based cohort study (ECRHS). Thorax 2010 Feb; 65(2): 124-31

Castro-Giner F, Bustamante M, Ramon González J, Kogevinas M, Jarvis D, Heinrich J, Antó JM, Wjst M, Estivill X, de Cid R. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). BMC Med. Genet. 2009 Dec; 10: 128

Oudot T, Lesueur F, Guedj M, de Cid R, McGinn S, Heath S, Foglio M, Prum B, Lathrop M, Prud'homme JF, Fischer J. An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders. J. Invest. Dermatol. 2009 Nov; 129(11): 2637-45

Morales E, Sunyer J, Júlvez J, Castro-Giner F, Estivill X, Torrent M, de Cid R. GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers. Int J Epidemiol 2009 Jun; 38(3): 690-7

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Generalitat de Catalunya

Unió Europea


Universitat Autònoma de Barcelona

Ajuntament de Badalona

Institut Català de la Salut

Germans Trias i Pujol Hospital

Fundació Institut d'investigació en Ciències de la Salut Germans Trias i Pujol

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