Translational BioinfoRmatics

We are at the Health Research Institute Fundación Jiménez Díaz (IIS-FJD), the research partner of the University Hospital FJD, in Madrid (Spain), right in the middle of the city surrounded by researchers, physicians and lots of scientific questions and direct applications with a common aim: improve patients' quality of life. This is why translational is part of our fingerprint.

We use mathematical, computational and statistical methods to study gene and protein regulation under disease stages. As part of the Genetics Department we are specially interested in genetic diseases.

Our main research lines are:

• Genetic diseases (mainly monogenic, rare and neurosensorial):

  • We develop and maintain pipelines for the analysis of NGS data related to these pathologies.

  • Methods for new candidate gene predictions.

  • Methods for variant prioritization.

  • Cohorts studies.

• Methods development: to analyze genomic data, applications in Functional Genomics, ontologies usage and Big Data.

• Protein post-translational regulation: 

  • Protein-protein interaction networks and their usage to describe and analyse cellular stages.

  • Post-translational modifications. Their functional characterization and role in diseases.

A few buzzwords we could use to describe us in random permutations without repetition: Systems-Functional-Translational-Deep-Big, Genomics-Genetics-Medicine-Bioinformatics-Data-Learning. Others might be coming soon ...