University of Santiago de Compostela

The Group of Genomic Medicine at the University of Santiago de Compostela (USC) is a joint venture of researchers from the Population and Forensic Genetic group of the USC and researchers from the Galician Foundation of Genomic Medicine. This is a support organization of the health service of Galicia (SERGAS) offering a clinical genetics service (both molecular and cytogenetic analysis) to all hospitals in the SERGAS network comprising 3.5 million inhabitants. FPGMX is one of the foremost clinical genetics support organizations in Spain, offering one of the highest volumes of throughput and one of the most extensive arrays of molecular diagnostic tests for inherited diseases. Major lines of investigation from 2000 to date comprise genetics of  monogenetic and complex disease, genetics of breast, CLL and CRC, pharmacogenetics, population and evolutionary genetics. The group is composed by a total of 92 people including technical staff.

Integrated within the group is the Santiago node of the National Genotyping Centre. The aim of the centre is to offer high-throughput SNP analysis and to facilitate the statistical analysis and bioinformatics tools for SNP selection in association and linkage studies and for post-genotype analysis. The Centre has different high-throughput genotyping platforms: Affymetrix, Sequenom MALDI-TOF MS and Taqman.  Also the group integrates the sequencing and expression platforms of the USC. Next Generation Sequencing facilities include SOLID 4 sequencers, expression analysis and bioinformatics facilities.

The research activities in the group include population genetics and clinical genetics with a special focus on genetics of complex traits (specially including psychiatric disorders and cancer). Although with an important practical activity in applied genetics the group is producing more than 50 SCI papers per year in best ranked journals in the different areas of activity.


Staff Involved
  • Ángel Carracedo
  • Inés Quintela
  • María Torres
  • Beatriz Sobrino