Mario Cáceres

Mario Cáceres

Universitat Autònoma de Barcelona

Life & Medical Sciences

Mario Cáceres obtained his PhD at the Universitat Autònoma de Barcelona (UAB) working on Drosophila chromosomal rearrangements (1995-2000). He then moved to the USA as a postdoc at the Salk Institute for Biological Studies (2001-2003) and Emory University (2003-2006), where his research shifted to the use of novel genomic techniques to compare gene-expression levels in humans and non-human primates, as a way to study human unique characteristics. In 2006 he got a Ramón y Cajal position at the Centre for Genomic Regulation in Barcelona, and focused on the identification of genomic changes with potential functional consequences in the human lineage, such as those associated with expression differences and structural variants, especially inversions. In 2010 he joined ICREA and since then he leads the Comparative and Functional Genomics group at the Institut de Biotecnologia i de Biomedicina (IBB) of the UAB, where he is also an associate professor.

Research interests

The genomic revolution has unveiled extraordinary possibilities unthought-of before. In particular, we are interested in understanding genomic structural variation and gene-expression changes, and how they relate to individual and species differences. To address these questions, we use humans as a model and take a multidisciplinary approach that combines experimental and bioinformatic analysis of the great wealth of data available, generating results of interest to many diverse fields. Our main line of research is the global analysis of polymorphic inversions in the human genome, which aims to investigate the biological significance of one of the less known types of variants in humans. This ranges from the development of new methods for inversion study and the first database of human polymorphic inversions, to the characterization of their population distribution, functional effects and selection signatures, as a way to ultimately determine their contribution to complex traits.

Selected publications

- Puig M, Lerga-Jaso J, Giner-Delgado C, Pacheco S, Izquierdo D, Delprat A, Regan JF, Karlin-Neumann G & Cáceres M 2020, 'Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR', Genome Research, vol. 30, pp. 724-735.  

- Maggiolini FAM, Sanders AD, Shew CJ, Sulovari A, Mao Y, Puig M, Catacchio CR, Dellino M, Palmisano D, Mercuri L, Bitonto M, Porubsky D, Cáceres M, Eichler EE, Ventura M, Dennis MY, Korbel JO & Antonacci F 2020, 'Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution', Genome Research, vol. 30, pp 1680-1693.

Selected research activities

- Award of the Spanish State Research Agency (AEI) Grant ‘On the role of human recurrent mutations in genome function, evolution and diseases (RE-INV)’.

- Participation in the Spanish Carlos III Health Institute (ISCIII) COVID-19 Grant ‘Determinantes genéticos y biomarcadores genómicos de riesgo en pacientes con infección por coronavirus SARS-COV-2’.

- Organizer of the COVID-19 VIII Bioinformatics and Genomics Symposium of the Societat Catalana de Biologia. December 14, 2020. Online Conference.

- BMC Genomics Associate Editor.

- Genes Journal Associate Editor.

- NAR Genomics and Bioinformatics Associate Editor.