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GENOMES & DISEASE

'We investigate the patterns and mechanisms of genomic variation in disease'

‘The overall aim of our research is to identify and characterize new patterns and mechanisms of genomic alteration in disease’


Research lines


Patterns and mechanisms of structural variation in cancer development and disease

Using computational approaches, we aim to identify and characterize new patterns and mechanisms of structural variation in the cancer genome and, generally, in disease. For this purpose we take part of several genome-analysis consortia, such as the International Cancer Genome Consortium (ICGC).

Roles of retrotransposons and viruses in cancer and disease

We investigate the impact of retrotransposons and viruses on the structure and the function of eukaryotic genomes, and the role this mobile DNA play in disease, particularly in cancer.

Genetic causes of transmissible cancers

Clonally transmissible cancers are somatic cell lineages that are transmitted between individuals via the transfer of living cancer cells. There are only three known types of naturally occurring clonally transmissible cancers, one of which is a leukemia-like cancer found in marine bivalves, called hemic neoplasia (HN). Using HN in bivalves as a model for clonally transmissible cancers, we intend to identify the genomic alterations and mutational processes that drive transmissible cancers to depart from their hosts and evolve as parasitic clonal lineages in the marine environment, for illuminating universal processes that make a cancer contagious, and to identify new/unexpected biological insights into the general mechanisms of cancer metastasis.

The 1,000 Rare-disease Genomes Project

We aim to characterize the genetic and genomic alterations in 1,000 genomes from patients diagnosed with a rare disease, using multi-platform genomic analyses, with the idea of identifying new variants and illuminating new mutational mechanisms involved in the origin of rare diseases.