Principal Investigator: Elena Bosch Principal Investigator: Elena Bosch


Research lines Research lines

Our research focuses on investigating different aspects of human genetic diversity. In particular, we are interested in the architecture of the genetic predisposition to complex disease and in human adaptive traits that have undergone positive selection during human evolution. For that, we usually analyze full genome sequencing data from different control/case settings or geographically diverse human populations and apply state-of-the-art methods for rare variant association and detection of selection. Furthermore, by using in silico predictions, relevant molecular biology techniques and human phenotypic data, we aim to elucidate the genetic variants and molecular phenotypes underlying the  genetic basis of different human adaptations presumably related to immunity and pathogen interaction, diet and micronutrient content.

Recent human adaptation and nutrition.

Micronutrients play an important role in human health and their physiological and cellular concentrations are kept in homeostasis by a number of membrane transport proteins and metal-binding proteins. Besides identifying signatures of selection in genes related to the metabolism of micronutrients, we have described the interplay between genetic variation, mRNA and protein expression, together with trace element content in different human tissue samples in order to gain insight into possible adaptive responses to nutrient availability and past diet changes. In that case, we are also especially interested in the parallel interrogation of the functional effects of multiple putative adaptive genetic variants of small effect contributing to zinc homeostasis.

Adaptation to the Neolithic.

During the transition from hunter-gatherer groups to agricultural societies, humans confronted major demographical and ecological challenges. We plan to apply several evolutionary strategies to detect differential modes of selection in full genomes from hunter-gatherers and neighbouring populations differing in their lifestyles. Besides detecting the signatures of hard selective sweeps we will focus on detecting soft sweeps, including selection form standing variation and polygenic adaptation. Subsequently, the functional variation linked to these signatures will be experimentally validated through the relevant molecular biology techniques.

Role of natural selection in human disease genes.

By analyzing different evolutionary and biological features we  characterize the selective pressures acting in genes associated to Mendelian and complex diseases to understand differences in penetrance, age of onset, and risk allele frequencies between genetic disorders. Also, in collaboration with Arcadi Navarro (Evolutionary Genomics Lab) we hope to provide genomic evidence for the evolutionary theories of senescence by identifying antagonistically pleiotropic variants and signatures of positive selection in pleiotropic genes associated to age-related traits.


Lab website: Bosch Lab

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Publications since 2011 Publications since 2011

Spataro, N.; Rodríguez, J.A.; Navarro, A.; and Bosch, E. 2017. Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Hum Mol Genet.

Spataro N.; Roca-Umbert A.; Cervera-Carles L.; Vallès M.; Anglada R.; Pagonabarraga J.; Pascual-Sedano B.; Campolongo A.; Kulisevsky J.; Casals F.; Clarimón J.; Bosch E. 2017. Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients. Movement Disorders. 32(1):165-169

Rodríguez, J.A.; Marigorta, U.M.; Hughes, D.A.; Spataro, N.; Bosch, E.; Navarro, A. 2017. Antagonistic pleiotropy and mutation accumulation influence human senescence and disease. Nature Ecology & Evolution 1:0055

Delgado, J.; Bielig, T.; Bonet, L.; Carnero-Montoro, E.; Puente, X.S.; Colomer, D.; Bosch, E.; Campo, E.; Lozano, F. 2017. Impact of the functional CD5 polymorphism A471V on the response of chronic lymphocytic leukaemia to conventional chemotherapy regimensBritish Journal of Haematology 177(1):147-150

Spataro, N.; Roca-Umbert, A.; Cervera-Carles, L.; Vallès, M.; Anglada, R.; Pagonabarraga, J.; Pascual-Sedano, B.; Campolongo, A.; Kulisevsky, J.; Casals, F.; Clarimón, J.; and Bosch, E. 2016. Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients. Mov Disord 32 (1), 165-169

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Ongoing projects Ongoing projects

In the media In the media

19th July, 2017. RAC1 - No ho sé. "Què és el que ens fa pròpiament humans?".  Radio interview with Jaume Bertranpetit and Elena Bosch.

On the B·Debate, organised by Jaume Bertranpetit and Elena Bosch:

On the publication of the article "Antagonistic pleiotropy and mutation accumulation influence human senescence and disease", with the participation of Elena Bosch and Arcadi Navarro:

On the publication of the article "Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology", with the participation of Elena Bosch: