• The University of Oviedo has contributed to sequence the chronic lymphocytic leukaemia's genome

    June 07, 2011

    The study that has been published today in Nature magazine, led by the researchers Carlos López Otín and Elías Campo, means a milestone in the Spanish research and an important advanced in the fight against cancer. Scientifics have sequenced the full genome of patients with leukaemia and identified the mutations and this will provide new keys about this disease.

    Otín, Garmendia and Campo

    A group of Spanish researchers have sequenced the full genome of patients with chronic lymphocytic leukaemia and identified those mutations providing new keys about this disease, the most common among the leukaemia types in the occidental countries.


    The study, published today in Nature magazine, is led by the researchers Elías Campo, from the Clínic Hospital and the University of Barcelona, and Carlos López-Otín, from the University of Oviedo and it has counted with the participation of more than 60 researchers belonging to the Spanish Consortium of the Genome of the Chronic Lymphocytic Leukaemia.  

    Both researchers will present the results of their work tomorrow in the main headquarters of the Ministry of Science and Innovation, in Madrid, together with the Minister, Cristina Garmendia, who has assured that the results of this project means a milestone for national research and they also contribute to the consolidation of our scientific role internationally.

    It has to be taken into account that, with the publishing of this work, Spain has overtaken other countries with leading centres such as the Massachussetts Institute of Technology (MIT) from the Univted States which is also studying this same problem. “ It's been a challenge at all levels- scientific, clinic, competitive- to prove that we are able to do this kind of contributions ” has explained Carlos López Otín. In fact, this new has had a great impact in the scientific field and a wide media coverage. The research team has been complemented on their work, even the president of the Government, José Luis Rodríguez Zapatero has congratulated them through a telegram.

    The Minister of Science and Innovation has confirmed that this department will fund the project which has been presented today “so that this great scientific result can be accelated and be brought to clinical practice as soon as possible”.

    Garmendia has repeated the “incredible relevancy” that the Ministry has always give to the research about cancer within its agenda. In this sense, the Minister of Science and Innovation has pointed out that, since 2005, the Government has employed more than 300 millions of Euros to promote the research about cancer. Furthermore, Spain is the second country of the world, following the United States with the highest proportion of its budget dedicated to the funding of biomedical science in relation to its Gross Domestic Product.

    The results of the work

    Chronic lymphocytic leukaemia is the most found in the occidental countries, with more than one thousand patients every year in our country. It is known that the most usual cause of this disease is the uncontrolled proliferation of B lymphocites in patients, though, it is still unknown which the mutations which cause it are..


    Human genome is composed by more than three thousand million chemical units called nucleotides. When the genome is sequenced, each nucleotide is read, at least 30 times, in order to verify that the reading is the correct one so that the identified mutations can be certainly assigned.


    During this work, researchers have used the most advanced technologies to sequence the 3.000 millions of nucleotides which compose the full genome of four patients' tumour cells and they have compare it with the sequence of the healthy cells located in these same individuals. Carlos López Otín has cleared up that "This approaching has allowed us to prove that each tumour has suffered about one thousand mutations in its genome". He also reveals that "a further analysis of the mutated genes in a group of more than thirty patients let us identify four genes whose mutations cause the development of this kind of leukaemia".


    The advances of this knowledge about molecular biology of cancer during the last decades have determined that this is a disease motivated by the gathering of genetic damages in ordinary cells, but until now, the identification of these changes was a slow and laborious process. Nevertheless, this process has been quickened thanks to the latest equipment for the sequencing of genomes, such as those available to scientists at the National Centre for Genome Analysis where six human genomes can be currently sequenced in one day.


    The analysis of the extraordinary volume of data generated in this project has needed the creation of specialized programmes. Sidrón is the name of a computer tool developed at the University of Oviedo which has been essential for the identification of those mutations found in tumour genomes.


    The study about the Chronic Lymphocytic Leukaemia which was carried out during some decades at the Clínic Hospital of Barcelona has allowed the consortium to own DNA and the clinical details of hundreds of patients, who have provided an additional clinic dimension to this genomic study.

    The Spanish Consortium for the Study of the Chronic Lymphatic Leukaemia Genome

    The Spanish Consortium for the Study of the Chronic Lymphatic Leukaemia Genome (CLL Genome, is funded by the Ministry of Science and Innovation, through the Carlos III Health Institute, with 10 millions of Euros of direct funding and it is framed within the International Cancer Genome Consortiumr (ICGC,,led by Tom Hudson from the Research Institute of Cancer at Ontario, Canada.


    The ICGC began at the end of 2008 with the participation of eight international research teams, among them, the Spanish Consortium for the Study of the Chronic Lymphatic Leukaemia Genome. In 2011, financing agencies in four continents and 11 countries have promoted a total of 38 projects that have already boosted the study of 17.000 tumour genomes. The purpose of ICGC for the next four years is to extend this work of sequencing and the analysis of 500 tumour genomes of 50 types of cancer (25.000 tumour genomes).


    One year ago, Nature published a foundational study about this international consortium of researchers in which the potential relevancy of ICGC project for the development of new methods of diagnosis and therapies against cancer was outstood, while the full sequencing and the analysis of 500 tumour genomes from each of the most usual 50 cancers was completed, as it has previously mentioned.


    Nature has published the most important advances of the Spanish participant in the ICGC, derived from the exhaustive analysis of the four first genomes which belong to patients with chronic lymphocytic leukaemia. They have allowed the discovery of new mechanisms implied in the development of this disease. The work of the Spanish researchers has confirmed the genomes' massive sequencing strategy to know which the genetic causes of cancer are.

    Institutions which take part of the Consortium

    The Spanish Consortium for the Study of Chronic Lymphatic Leukaemia Genome is composed by a dozen of institutions: the Clínic Hospital of Barcelona; the University Institute of Oncology from the University of Oviedo; the University of Barcelona; the August Pi i Sunyer Biomedical Researches Institute; the Centre for the Genomic Regulation of Barcelona; Bellvitge Institute Foundation for Biomedical Research- Catalonian Institute of Oncology; the University Hospital and the Cancer Research Centre of Salamanca; the National Centre of Oncology Researches; Deusto University; University of Santiago de Compostela; the Barcelona Supercomputing Centre; and the National Centre for the Genomic Analysis. The Spanish Consortium has also counted with the collaboration of Welcome Trust Sanger Institute in Hinxtons, United Kingdom.