Introduction

The main objective of our research group is the identification and validation of genetic variants (e.g. single nucleotide polymorphisms or differential methylation) implicated in common human complex diseases. To achieve this, we examine complete genomes of patients and control individuals using mostly high-throughput genotyping and sequencing techniques.

We also develop bioinformatics tools for the analysis of the data. These supply biological interpretation of the results by examining the functionality of the identified genes, and by investigating their involvement in the aetiology of diseases and their possible mechanism of action.


Research

Our main projects are:

  • The detailed genetic characterization of the Basque population in relation to the high incidence of some inherited diseases in this isolated group.
  • Leading the Genetics Work-Package within the COEDUCA (Cognition and Education) Consolider-Ingenio 2010 CSD2008-00048 project.
  • The study of genetic polymorphisms associated with Alzheimer's disease by means of high-throughput SNP genotyping.
  • Functional and therapeutic implications in solid organ transplant.

We also collaborate in the following projects:

  • High density genotyping in the region 6p21 for the identification of polymorphisms associated with the susceptibility to Type 1 Diabetes mellitus (with Dr. Luis Castaño - Hospital de Cruces).
  • Identification of new genes associated with Monogenic Diabetes(with Dr. Guiomar Pérez de Nanclares - Hospital de Cruces)
  • High-throughput genotyping of the MHC (6p21) and LCR (19q3.4) regions in HLA-B27 populations in order to spot genetic variants associated with Ankylosing Spondylitis (with Asturias).
  • System biology of Non Alcoholic Fatty Liver diseases (with Dr. Maria Luz Martínez - CIC bioGUNE)
  • Clinical validation of genetic tests for the evaluation and therapy selection for colorectal patients (with Dominion Pharmakine, S.L.).

Services
 

SNP genotyping and cytogenetic/CNV analysis:

  • Whole genome and cytogenetic/CNV analysis
  • Focused genotyping
  • Custom genotyping
  • Linkage analysis

 

Epigenetic analysis:


  • Array-based methylation


 

Gene expression analysis:


  • Whole genome expression


 


Bioinformatics:


  • Association studies
  • Epigenetic analysis (methylation)
  • Differential gene expression analysis


 
Please see Services entry in the menu for services access and description.
 






Contact

We are located at the Bizkaia Technology Park, near the city of Bilbao.

Parque Tecnológico de Bizkaia, Ed. 502, floor 0

48160 Derio, Bizkaia, Spain

Tel: +34 946 572 524 (ext. 420)

Fax: +34 946 568 732