After graduating in Biochemistry and Molecular Biology, I obtained a PhD in Molecular Biology from the University of Barcelona in 2000, under the supervision of Manuel Palacín. My research focused on amino acid transporters and their association with genetic diseases, a work that was recognized with the University PhD Extraordinary Prize. After the PhD, I joined Peer Bork’s group at EMBL in Heidelberg with an EMBO long-term fellowship, transitioning into the field of genomics. Between 2000 and 2006, I worked on genome annotation and analysis, applying bioinformatics approaches to understand gene function and evolution.

Since 2006, I have been leading a research group at the Barcelona Supercomputing Center, where our work focuses on biomedical genomics. My research explores the relationship between genomic alterations and disease, leveraging computational tools to address key questions in precision medicine and genomics.

Genomes are the fundamental molecules of life, containing all the information required for the development, survival, and reproduction of organisms. Over the past 20 years, genomic studies in a biomedical context have significantly advanced our understanding of the genetic and molecular basis of diseases. Today, advancements in DNA sequencing technology enable the integration of genomic analysis into routine healthcare protocols, paving the way for Precision Medicine. This approach leverages genomic information to provide more accurate diagnoses and tailor treatments to individual patients.

In this context, our group focuses on designing and implementing advanced analysis protocols, incorporating artificial intelligence to deepen our understanding of the relationship between genomic variation and disease. Ultimately, our goal is to establish a foundation for more precise, preventive and personalized medical care, improving outcomes for patients through innovative genomic insights.