DisGeNET discovery platform


A new version of DisGeNET has been released!!!!

DisGeNET is a discovery platform integrating information on gene-disease associations from several public data sources and the literature. Developed by the Integrative Biomedical Informatics group of GRIB, DisGeNET integrates expert-curated databases with text-mined data, and it is one of the largest available repositories of its kind. 

The new release of DisGeNET contains more than 400,000 gene-disease associations, comprising around 17,000 genes, and more than 15,000 diseases and phenotypes. Some of the new features of the current release include new expert-curated databases, information on more than 45,000 SNPs associated to diseases, new annotations of genes to phenotypes, the DisGeNET Gene-Disease association type ontology updated with new association types and new features to prioritize genes, and more...

For further details, visit the DisGeNET website and follow us at twitter @DisGeNET

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Project MedBioinformatics promotes the 1st European Conference on Translational Bioinformatics (ECTB 2016)

The conference took place at the University of Copenhagen on April 26-27, bringing together 150 experts in the area.

The conference addressed among others the following topics: Biomedical big data approaches, Data capture and curation, Precision medicine and Data integration and analytics combining omics and clinical data

ECTB is a new series of scientific conferences promoted by the MedBioinformatics project, which aims to have continuity by means of new editions to be held in UK (2017) and Barcelona (2018). 

MedBioinformatics "Creating medically-driven integrative bioinformatics applications focused on oncology, CNS disorders and their comorbidities" is a project funded by H2020 and coordinated by the GRIB with the participation of other research groups of IMIM and UPF.

For more information about the conference please visit:

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Allegoric representation of the variability of the transcriptome through changes in alternative splicing in difference cancer types. Illustration by Babita Singh


Scientists of GRIB find a new molecular mechanism involved in the development of cancer

Researchers of the Computational Genomics group of GRIB (UPF-IMIM) led by Eduardo Eyras, have discovered new alterations linked to cancer and have revealed the importance of the transcriptome in the development of tumours. For the first time, scientists have studied the variability of the cell transcriptome in several tumours at the same time, that is, not focusing on the DNA but on the products extracted from it. The results of the study have been published in the journal Genome Research.

Thanks to the bioinformatics tools developed by the research group, in record time and using limited computational resources, the scientists have been able to carry out a comprehensive analysis of the transcriptome of over 4,000 tumour samples from eleven different types of cancer taken from the TCGA project. This analysis shows that the proteins bound to the RNA are very often altered in human tumours and that these alterations determine the cell transcriptome and induce cell transformations related to the development of cancer. Until now, these alterations remained invisible to the methods used in major cancer genome analysis projects.

Reference work: Sebestyen E, Singh B, Miñana B, Pages A, Mateo F, Pujana MA, Valcarcel J, Eyras E. Large-scale analysis of genome and transcriptome alterations in multiple tumors unveils novel cancer-relevant splicing networks. Genome Research, 2016.  DOI: 10.1101/ gr. 199935. 115

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Exposure to UV radiation causes specific DNA lesions, which are recognised and repaired by Nucleotide Excision Repair (NER) machinery. Non-repaired lesions may result in mutations during DNA replication.


Scientists of GRIB find the cause of the accumulation of genetic mutations in certain regions of the genome of melanomas and lung cancers

Genetic mutations are changes in the DNA sequence that can cause errors in cell function, and in the worst case, their accumulation leads to serious diseases such as cancer. To avoid this, cells have mechanisms that are continuously detecting and repairing these changes, but which sometimes fail, resulting in the accumulation of mutations and the emergence of tumours . A scientific team of the Biomedical Genomics group of GRIB, led by Núria López-Bigas, has found, for the first time, the reason why mutations specifically accumulate in certain regions of the genome in cells of melanoma and lung cancer (adenocarcinoma and lung squamous cell carcinomas), two which are highly prevalent in the population. The results of this research appear published in the latest edition of journal Nature.

Reference work: Radhakrishnan Sabarinathan, Loris Mularoni, Jordi Deu-Pons, Abel González-Pérez, Núria López-Bigas. Nucleotide excision repair is impaired by binding of transcription factors to DNA. Nature, April 2016. DOI: 10.1038/nature17661

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Premature infant with ventilator


Thousands of genes from the umbilical cord change their activity in response to amniotic sac infection in preterm birth

A study published in the latest issue of Pediatric Research, the official journal of the American Pediatric Society (APS) and the European Society for Pediatric Research (ESPR), describes the largest molecular signature to date of the fetal inflammatory response (FIR), found in umbilical cord tissue from extremely preterm newborns. The research was conducted by Daniel Costa, paediatrician at the Hospital de Figueres (Figueres), and Robert Castelo, leader of the Functional Genomics group of the GRIB (IMIM-UPF).

According to the World Health Organization, one in every ten babies is born preterm. Thanks to the advances in perinatal medicine, extremely preterm babies increasingly survive premature birth. However, they often develop diseases of prematurity, such as perinatal brain damage amd more concretely, before birth about 30% of these newborns suffer an intra-amniotic infection that triggers an inflammatory response in the fetus, also known as the fetal inflammatory response (FIR), increasing their risk of disease and mortality.

In this study, Costa and Castelo conclude that Genes that increased their RNA molecular concentration are mainly involved in the activation of the innate and adaptive immune systems and constitute a valuable source of potential candidate FIR biomarkers . Genes that decreased their concentration, on the other hand, are mainly involved in fetal development, particularly brain development, and provide clues on possible molecular mechanisms leading to brain damage in FIR-affected preterm newborns

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Fuente: Ramon Guixà y Jana Selent


Regulating neuronal membrane lipids could be the key to Alzheimer's and Parkinson's

The work has been carried out using latest-generation molecular simulations The results will, in the future, enable new therapeutic pathways

A study published in the prestigious journal Scientific Reports from the Nature group demonstrates, for the first time and using computational tools, that polyunsaturated lipids can alter the binding rate of two types of receivers involved in certain nervous system diseases. The work was led by the Miguel Servet researcher Jana Selent and Ramon Guixà, members of the PharmacoInformatics group of GRIB (IMIM-UPF).

Using latest-generation molecular simulations, which are like "computational microscopes", the researchers have demonstrated that a decrease in polyunsaturated lipids in neuronal membranes, as seen in Parkinson's and Alzheimer's sufferers, directly affects the binding rate of dopamine and adenosine receptors. These are part of the family of receptors connected to the G protein (GPCR), located in the cell membrane and responsible for transmitting signals to within the cell. Until now, various studies have demonstrated that lipid profiles in the brains of people with diseases like Alzheimer's and Parkinson's are very different from those of healthy people. These studies showed that the levels of a polyunsaturated fatty acid in neuronal membranes are considerably lower in the brains of sufferers. The researchers believe that this difference in the lipid composition of membranes could alter the way in which certain proteins interact with each other, as in the case of the GPCR receivers.

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Informative session of the Master in Bioinformatics for Health Sciences on April the 8th

Come to the information session of the master's degree in Bioinformatics for Health Sciences on April the 8th at 17:00. 

The aim of this session is to provide information about the main characteristics of the Master, which is available for the 2016-2017 academic year. For further information and inscriptions click here (in Spanish) or here (in Catalan).

The Research Programme on Biomedical Informatics (GRIB) coordinates this Master.

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The 2nd eTOX Hackathon starts today at PRBB

eTOX Hackathon will be celebrated from the 7th till 10th of March at the Barcelona Biomedical Research Park (PRBB). The objective of this event is to gather multidisciplinary teams from academic, SME and EFPIA partners to work on a number of specific cases that require close, hands-on collaboration between computational experts and toxicologists. The final goal of this exercise will be to mine the data collected in the project as well as other public sources in order to derive new in silico models for the prediction of the toxicity of drug candidates. The attendance confirmed to this event includes representatives of large pharmaceutical companies like Sanofi-Aventis, Bayer, Novartis and Roche, academia & research organisations such as FIMIM, Fraunhofer, CNIO and UPV, and SMEs Lead Molecular Design, Lhasa Ltd and Molecular Networks.
The eTOX project aims to develop a drug safety database from the pharmaceutical industry legacy toxicology reports and public toxicology data, innovative in silico strategies and novel software tools to better predict the toxicological profiles of small molecules in early stages of the drug development pipeline. The eTOX project is funded by the Innovative Medicines Initiative Joint Undertaking (IMI-JU), a unique partnership between the European Community and the European Federation of Pharmaceutical Industries and Associations (EFPIA) and coordinated by the GRIB (IMIM-UPF).

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Taller de Bioinformàtica del GRIB al Saló de l’Ensenyament

Aquesta serà la 27ª edició del Saló de l’Ensenyament que organitza Fira de Barcelona

El proper dijous 10 de març de 16 a 18 hores, en el marc de l'Espai Ciència del Salo de l'Ensenyament, el GRIB (IMIM-UPF) realitzarà un taller de Bioinformàtica adreçat als alumnes d'entre 16 i 18 anys que visiten el Saló de l'Ensenyament. L'activitat, liderada per Will Blevins, investigador del Grup de Recerca en Genòmica Evolutiva, té per objectiu despertar la curiositat sobre aquest camp de la ciència i explicar als visitants algunes de les interessants aplicacions que té la bioinformàtica.

L'activitat porta per títol "Saps per què serveix la bioinformàtica?" i es realitzarà a l'estand que CERCA ha posat a disposició dels seus centres adscrits. Estarà dividida en 4 tallers de 15 minuts cadascun que mostraran els diferents camps de la bioinformàtica amb senzills exemples i activitats:  

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Núria López-Bigas guanya un ajut ERC Consolidator del Consell Europeu de Recerca

Núria López-Bigas es investigadora ICREA i cap del grup de recerca en Genòmica Biomèdica del GRIB (IMIM-UPF) que centra la seva recerca en l'estudi del càncer des d'una perspectiva genètica. 

Les alteracions genètiques són, en darrer terme, les responsables de transformar una cèl·lula normal en una tumoral, i entendre la seva importància permet millorar el coneixement de la biologia de la malaltia i desenvolupar-ne millors tractaments. La majoria d'aquests estudis es centren en els canvis que s'observen a nivell de les regions codificants de l'ADN, és a dir, aquelles que contenen la informació per produir les proteïnes de la cèl·lula. Tanmateix, la resta del genoma, anomenat genoma no codificant, participa en la regulació d'aquest procés i les seves alteracions poden ser igualment rellevants. 

El projecte a desenvolupar, de 5 anys de duració, té com objectiu caracteritzar el paper de les mutacions en regions no codificants en els tumors més prevalents en la població i comptarà amb la col·laboració del Consorci Internacional del Genoma del Càncer.

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