IMIM - Institut Hospital del Mar d'Investigacions Mèdiques

Evolutionary genomics Mar Albà


Biomedical Genomics (Núria López)

The Biomedical Genomics Group was established by Dr. Nuria Lopez-Bigas in April 2006 and is part of the Computational Genomics Laboratory at the GRIB. Dr. Lopez-Bigas has a multidisciplinary background; she has experience in Medical and Molecular Genetics (in her PhD she investigated the molecular causes of deafness) and in Computational Biology (she worked in the European Bioinformatics Institute in Cambridge). She has published 26 peer-reviewed articles, 12 in the field of computational biology and 14 in the field of Medical Genetics. Following the interdisciplinary experience of his head, the group is focussed on the computational study of human genetic diseases, including hereditary diseases and cancer, at genomic level. The lab is at the frontier between medical genomics and bioinformatics, which requires a multidisciplinary formation of the team members. Today, apart from his head, the lab is composed of one Post-doctoral researcher, 3 PhD students and 1 Master student.

Main Research Lines: we are mainly involved in the computational study of hereditary disease and cancer from a genomic level perspective. In addition we have worked in the evolution of the human genome and in several collaborative efforts like ENCODE or STAR. A brief description of each line are provided next: 

  1. Genomic Study of Hereditary Diseases. More than 1700 genes are known to be involved in mendelian diseases when they have mutations. The computational study of this group of genes has allowed us to reveal some molecular properties that make them more likely to cause a disease. These properties, in addition to help us understand better the molecular mechanism of disease mutations, can be used for prediction of disease genes.
  2. Genomic Study of Cancer. All cancers are caused by alterations in DNA that affect the biochemical function or expression of certain genes providing expansion capabilities to the cell with the mutations. Generally this is a multi-step process, requiring alterations in several parts of the genomes that ultimately result in the uncontrolled growth of a clone derived from the cells with the mutations. Genetic aberrations involved in cancer are diverse (i.e. chromosome reorganization, point mutations, over or under-expression, copy number variation) and often appear in combinations. Due to the complex and combinatorial nature of cancer, it is important to approach the study of this disease from a genomic perspective to aim for a fully understanding of the tumourigenesic process. We work on the study of properties and prediction of genes involved in cancer, as well as in the genomic analysis of transcriptional programs related to tumour development.
  3. Evolution of Genomes. Our group is also interested in the evolution of the human genome from different perspectives. In collaboration with the group of Dr. Sarah Teichmann from the Molecular Biology Laboratory in Cambridge, we have quantified the divergence of human proteins at long, median and short evolutionary distances and compared the evolution of different biological process and functions. We have also collaborated with the Evolutionary Genomics Unit of the UPF in the study of chromosomal rearrangements and genic evolution in humans and chimpazees. Other topics: In addition to the topics explained above, our group has also participated in some international and European collaborative efforts for the annotation of the human genome (ENCODE project), the creation of a haplotype map of the rat (STAR consortium), the annotation of genomic metabolic pathways (BioCyc) or the creation of a computational genomics platform (CoGent++).

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