NEWS
- February 2023: attended the first BioHackathon-MENA at KAUST involved in three projects: leading “MetaboliteNET”, co-leading “Harmonizing COVID-19 Epidemiology Ontologies“, and participating in “Embedding ontologies” projects!
- January 2023: Absolutely delighted to have three abstracts accepted for SWAT4HCLS 2023!
- My student Karolis Cremers will present his work on “Structured review on Huntington’s disease iron hypothesis“
- My student Pablo Perdomo Quinteiro will present our work on “FAIRification and semantic modelling for Duchenne and Becker Muscular Dystrophy rare diseases”
- I will present our work on “Updating the CEMO ontology for future epidemiological challenges”
- November 2022: attended the BioHackathon-EU 2022 leading the project on “Infrastructure for synthetic health data“
- September 2022:
- Proud of my MSc student Mr Pablo Perdomo Quinteiro who presented our work “Knowledge graphs and Explainable AI for Drug Repurposing on Rare Diseases” as a talk at the Role of Ontologies in Biomedical AI workshop at ICBO 2022
- With great pleasure I presented our work “Rare disease specific FAIR Maturity Indicators” as a talk at the ECCB 2022
Curriculum Vitae: [academic][professional]
Updated 2022/11Research interests
Developing semantic resources and applying AI and data science methodologies to leverage the biomedical big data for discovery and translational research.
My methodological work lies in:
- data management, data modeling, and data integration.
- semantic technologies for knowledge representation, data interoperability and computational reasoning.
- development of interoperable bioinformatic tools and reproducible workflows.
- knowledge discovery based on evidence:
- applying semantics and AI methods on knowledge graphs for predictive interpretable models
- applying AI methods on knowledge graphs for hypothesis generation.
- developing semantic web tools harnessing the web of linked data.
- metadata description to enhance discovery in science based on evidence.
- to understand the molecular mechanisms that lead to abnormal phenotypes and diseases.
- to predict candidates for diagnosis, therapy and toxicology using biological networks and a systems biology approach (network medicine).
Professional experience
- Postdoctoral Senior Researcher, Biosemantics Group, Human Genetics Department, Leiden University Medical Centre (LUMC), Leiden, The Netherlands, April 2020 – present
- Data Scientist Research Associate, Avillach Lab, Harvard Medical School Department of Biomedical Informatics, Harvard University, Boston, MA (USA), December 2019 – February 2020
- Visiting Researcher, BORG, CBRC, King Abdullah University of Science and Technology (KAUST), Thuwal (Saudi Arabia), August 2019 – November 2019
- Postdoctoral Research Associate, Su Lab, Department of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA (USA), June 2016 – November 2019
- Postdoctoral Researcher Fellow, IBI Group, Research Programme on Biomedical Informatics (GRIB) IMIM-UPF, Barcelona (Spain), June 2012 – May 2016
- Biostatistics Consultant, Open University of Catalonia (UOC), Barcelona, September 2010 – April 2016
- Bioinformatics Technician Fellow, IDIBAPS, Barcelona (Spain), September 2010 – January 2012
- Bioinformatics Technician Department of Biochemistry and Biotechnology (URV), Tarragona (Spain), July 2009 – June 2010
- MSc Researcher Research Programme on Biomedical Informatics (GRIB) IMIM-UPF, Barcelona (Spain), September 2007 – September 2008
- PhD Researcher Department of Physical and Inorganic Chemistry (URV), Tarragona (Spain), September 2002 – September 2006
- Teacher Assistant Department of Physical and Inorganic Chemistry (URV), Tarragona (Spain), September 2001 – September 2002
Education
- MSc in Bioinformatics for Health Sciences Universitat Pompeu Fabra, June 2008
- Supervisor: Dr. Jordi Mestres
- PhD in Quantum Chemistry, Universitat Rovira i Virgili, July 2006 (Defense on May 2010)
- Supervisors: Prof. Dr. Rosa Caballol Lorenzo and Dr. Coen de Graaf
- BSc in Chemistry, Universitat Rovira i Virgili, July 2001