Strategic Research

Genomics and Disease

We are interested in the evaluation of how different types of genetic variants (single nucleotide variants, structural variations, mainly copy number variants, and insertion/deletion variants, including transposable elements) contribute to common and rare human disorders.

We are also exploring the contribution of epigenetic modifications and non-coding RNA pathways in complex diseases, mainly neuropsychiatric and neurodegenerative disorders.

We approach these questions through very well characterized cohorts of patients and the use of high-throughput genomic platforms and functional studies including longitudinal studies of patients at different time-points and cohorts in which exposure to environment has been monitored.

Main projects

  • 1.

    The Human Early-Life Exposome novel tools for integrating early-life environmental exposures and child health across Europe

    ERC. 7th Framework programme (HELIX_308333) 2013-2017

  • 2.

    Personalized bioinformatics for global cancer susceptibility identification and clinical.

    ERC. Horizon2020. (635290-PanCanRisk) 2015-2016

  • 3.

    Decoding the complexity of obsessive compulsive disorder through the integration of expression profiles and genetics variability

    Ministerio de Economía y Competitividad. Plan Estatal (SAF2013-49108-R) 2014-2016



Bioinformatics expertise:

Group Leader:

Xavier Estivill