Spanish scientists decipher the first epigenomes of CLL

The study, published today in Nature Genetics, represents a new perspective on cancer research, integrating the results of the complete sequencing of the genome and epigenome of patients with leukemia. Researchers identify the cells that cause the disease, discovered new molecular mechanisms involved in its development and improve its diagnosis.

The research is part of the Chronic Lymphocytic Leukemia Genome Spanish Consortium, with the participation of researchers from the BLUEPRINT European Consortium for the study of the epigenome. During the past two years this consortium, which is part of the International Cancer Genome Consortium, has published two works in the journals Nature and Nature Genetics that allowed the characterization of the genetic map of mutations associated with the disease.

One of the great innovations of the new study is that the investigators, coordinated by Dr. Elías Campo from IDIBAPS – Hospital Clínic de Barcelona and Dr. Carlos López-Ortín, from the Universidad de Oviedo, have simultaneously analyzed the genome and the epigenome. Epigenetics is defined as the science that studies the set of molecular mechanisms which activate or inactivate genes. So, the genome is a repository of information while the epigenome is responsible for implementing the information to the proper functioning of cells.

This study was published a few weeks after the publication of the results of the ENCODE project, which indicate that most regions of the genome that were considered 'junk DNA' actually contain a large number of regulatory regions of the gene activity. By integrating the new data with the ENCODE Project researchers noted that most of epigenetic alterations in leukemia occurred in these new domains regulating gene activity.

This study of the Chronic Lymphocytic Leukemia Genome Spanish Consortium is an example of interdisciplinary biomedical research. Specialists in epigenetics, genetics, molecular biology, bioinformatics, clinical pathology and hematology have collaborated to make it possible. This integrative approach and working together is a key to the success of this consortium funded by the Secretaría de Estado de I+D+i of the Spanish Ministerio de Economía y Competitividad through the Instituto de Salud Carlos III.

For further information: Chronic Lymphocytic Leukemia Genome Project: International Cancer Genome Consortium: