You are here

    • You are here:
    • Home > Deciphering human genome sequences

Deciphering human genome sequences


Dl, 24/01/2011 - 14:00

Deciphering human genome sequences

 The GEUVADIS (Genetic European Variation in Disease) project brings together Europe’s leading medical genome sequencing laboratories to define technological and ethical standards, and to promote multidisciplinary training for the global scientific and medical community.
GEUVADIS, coordinated by Dr Xavier Estivill of the Centre for Genomic Regulation in Barcelona, Spain and supported by the European Commission, includes 17 international partners throughout Europe and the United States.
Our genes determine how our body functions – or malfunctions. Understanding genes will help us to identify the best way to treat people for disease, and to discover new medicines. But obtaining, reading and interpreting the 3,000 million-letter code of the human genome has been a difficult journey. First, researchers pointed out millions of variable ”spots” in our genome, and discovered their association with disease. Today, advanced generation sequencing technologies have revolutionised the field by allowing us to read in detail and analyse the complete sequence of individual genomes, in an ever-faster and cheaper manner.
A growing number of research projects have flourished in response to the increasingly rapid evolution of these technologies, which has led to an unprecedented surge in new biological data. There are now several large-scale sequencing projects like the 1000 Genomes project and the International Cancer Genomics Consortium that are analysing thousands of samples from different populations and disease status. GEUVADIS investigators are partners of these large-scales projects. The production of this large amount of data poses major challenges that the GEUVADIS consortium is going to tackle in Europe.
The amount of data produced is large, but its quality and accuracy needs to be thoroughly determined. The correct interpretation of the data, and its use in diagnosis and treatment is hence complex. The release of all this data to the research community, and – in a global format - to the public, raises the scale of ethical, legal and social reflection: How can we ensure that the privacy of individual patients is protected as sequencing becomes cheaper and more available? How does the availability of this technology affect freedom of choice and mutual respect?
GEUVADIS takes a coherent and tightly coordinated approach to addressing these and other important questions. Dr Estivill, coordinator of the Genes and Disease Programme at the Centre for Genomic Regulation in Barcelona and coordinator of the project, envisions GEUVADIS as “a strong European framework that can be used to dissect the genetics of disease and to implement genomics responsibly in the medical setting”. In the framework of Spain, there are ongoing discussions to sequence the genomes of thousands of subjects affected by the most common diseases. This will boost basic and pharmaceutical research in a short time frame.
Anne Cambon-Thomsen of Toulouse (France), in charge of the ethical, legal and social aspects of the project, adds "To fill the gap between the technological fascination and speed, and the responsible implementation of genome sequencing, it is crucial that scientists participate early in the analysis of the ethical and societal dimensions of their work. This dimension is a lively axis of the work in GEUVADIS".
--Notes for editors:
The GEUVADIS Project, (Genetic European Variation in Disease) is a Coordination Action supported by the European Commission under the 7th framework programme, and coordinated by Xavier Estivill at the Center for Genomic Regulation in Barcelona.
Geuvadis participants: Top sequencing centers in Europe

  • Centre for Genomic Regulation, Spain
  • University of Geneva, Switzerland
  • Helmholtz Zentrum München – German Research Center for Environmental HealthHealth, Germany
  • Wellcome Trust Sanger Institute, United Kingdom
  • National Genotyping Center, France
  • Max-Planck Institute of Human Genetics, Germany
  • National Centre for Genomic Analysis, Spain
  • Uppsala University, Sweden
  • Christian-Albrechts University of Kiel, Germany
  • Radboud University Nijmegen Medical Centre, The Netherlands
  • Leiden University Medical Center, The Netherlands
  • University of Santiago de Compostela, Spain
  • European Bioinformatics Institute, United Kingdom
  • National Institute for Health and Medical Research, France
  • Applied Biosystems Deutschland GmbH, Germany
  • Illumina Cambridge Limited, United Kingdom
  • Johns Hopkins University School of Medicine, United States of America

For further information: Laia Cendrós, Communication & PPRR Dept. Centre for Genomic Regulation (CRG), Dr. Aiguader, 88 – Edif. PRBB, 08003 Barcelona. Tel. +3493 3160237.