Structuring Knowledge on Human Diseases:
                            Challenges and Opportunities
                                         Laura I. Furlong
                          Research Programme on Biomedical Informatics
                            Hospital del Mar Medical Research Institute
                                     Universitat Pompeu Fabra
                                         Barcelona, Spain
                                  laura.furlong@upf.edu


Abstract                                               biomedical literature; b) network biology for the
                                                       study of human diseases and drug toxicity; c)
Recent technological breakthroughs are produc-
                                                       bionformatic approaches for the reuse of clinical
ing an unprecedented volume of data on the ge-
                                                       data for research. Her group also maintains knowl-
netic determinants of human diseases. In our
                                                       edge resources to support translational research,
quest to identify disease biomarkers and to sup-
                                                       such as the databases DisGeNET and PsyGeNET.
port drug discovery projects, it is necessary to
                                                       She has published over 40 peer-reviewed articles,
place these wealth of information in the context of
                                                       and act as reviewer for the journals Bioinformat-
current biomedical knowledge. In this talk I will
                                                       ics, BMC Bioinformatics, BMC Systems Biol-
present our work in this area exemplified by the
                                                       ogy, Database and PLOS journals. She has par-
DisGeNET 1 and PsyGeNET 2 knowledge plat-
                                                       ticipated in several FP7 projects (@neurist, EU-
forms. The key role of text mining for extraction
                                                       ADR) and is currently involved in the IMI (Inno-
of relations between biomedical concepts will be
                                                       vative Medicines Initiative) projects eTOX, Open-
discussed 3 . I will present some of the hurdles
                                                       PHACTS, EMIF and IPiE and the H2020 project
we face in structuring the knowledge of human
                                                       MedBioinformatics.
diseases, such as the prevalence of data silos in
biomedicine, limitations of current ontologies and
the need of data curation and prioritization strate-
gies. In this regard I will share our experience for
data curation leveraging on users’ community and
crowdsourcing. Finally, the importance of build-
ing an ecosystem of linked data in biomedicine to
support translational research will be presented.

Biography
Laura I. Furlong is head of the Integrative Biomed-
ical Informatics Group, which belongs to the
Research Programme on Biomedical Informatics
(IMIM-UPF) and Associate Professor at the Uni-
versity Pompeu Fabra at Barcelona (Spain). She
has a PhD in Biology from the University of
Buenos Aires and a Msc in Bioinformatics by
University Pompeu Fabra. She has a broad ex-
pertise covering molecular biology, computational
systems biology and text mining. Her current
research lines include: a) development of new
strategies and tools for knowledge extraction from
   1
     http://www.disgenet.org/
   2
     http://www.psygenet.org/
   3
     http://ibi.imim.es/tools/befree/