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WP5 - Systems Biology and Bioinformatics
CDG & Allies - Professionals and Patient Associations
International Network (CDG & Allies-PPAIN)
WG CDG & Biomedical Bioinformatics
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WG CDG & Computational biology/chemistry
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WG CDG & Metabolomics
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WG CDG & Systems Biology
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Working Group (WG) CDG & Biomedical Bioinformatics
Working Group Leader (WGL): Dr. Laura I. Furlong (head of the Integrative Biomedical Informatics Group, Research Programme on Biomedical Informatics (IMIM-UPF) and Associate Professor at the University Pompeu Fabra at Barcelona (Spain).
This working group aims at applying text mining and knowledge management, network biology and real world data analytics to advance biomedical discovery and have an impact in health care and the pharmaceutical industry relevant for CDG.
This working group aims at applying text mining and knowledge management, network biology and real world data analytics to advance biomedical discovery and have an impact in health care and the pharmaceutical industry relevant for CDG.
Results obtained so far from this research project:
- A project was written. It is dedicated to collect and integrate data on the genes associated to the different CDGs, analyze this information to develop hypothesis on the physiopathology of the disease, and also suggest putative therapeutic interventions.
Any student, research groups, researchers, clinicians, patient organisations or other stakeholders who would like to become more involved within this project, are most welcome to get in touch to discuss possible future opportunities and collaborations. Fulfill the contact form available below:
About Dr. Laura I. Furlong
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DR Laura I. Furlong
Research Programme on Biomedical Informatics (GRIB) Hospital del Mar Medical Research Institute (IMIM) DCEXS, Pompeu Fabra University (UPF) C/Dr. Aiguader, 88 08003 - Barcelona Tel.: +34 93 316 0521 Fax: +34 93 316 0550 lfurlong@imim.es http://ibi.imim.es/LFurlong.html Email: lfurlong@imim.es |
Biography:
Dr. Laura I. Furlong is head of the Integrative Biomedical Informatics Group, Research Programme on Biomedical Informatics (IMIM-UPF) and Associate Professor at the University 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 expertise covering molecular biology, computational systems biology and text mining. The goal of her group is to advance biomedical discovery and have an impact in health care and the pharmaceutical industry by applying text mining and knowledge management, network biology and real world data analytics. Her current research lines include: a) development of new strategies and tools for knowledge extraction from biomedical literature; b) network biology for the study of human diseases and drug toxicity; c) bionformatic approaches for the reuse of clinical data for research. Her group also maintains knowledge resources to support translational research, such as the databases DisGeNET and PsyGeNET. She has published over 40 peer-reviewed articles, and act as reviewer for the journals Bioinformatics, BMC Bioinformatics, BMC Systems Biology, Database and PLOS journals. She has participated in several FP7 projects (@neurist, EU-ADR) and is currently involved in the IMI (Innovative Medicines Initiative) projects eTOX, OpenPHACTS, EMIF and IPiE and the H2020 project MedBioinformatics.
Her research will contribute to shed light on the biological mechanisms underlying CDG diseases, their comorbid diseases and help in the identification of therapeutic options for CDG patients by applying data and text mining approaches, and linked data methods.
Biography:
Dr. Laura I. Furlong is head of the Integrative Biomedical Informatics Group, Research Programme on Biomedical Informatics (IMIM-UPF) and Associate Professor at the University 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 expertise covering molecular biology, computational systems biology and text mining. The goal of her group is to advance biomedical discovery and have an impact in health care and the pharmaceutical industry by applying text mining and knowledge management, network biology and real world data analytics. Her current research lines include: a) development of new strategies and tools for knowledge extraction from biomedical literature; b) network biology for the study of human diseases and drug toxicity; c) bionformatic approaches for the reuse of clinical data for research. Her group also maintains knowledge resources to support translational research, such as the databases DisGeNET and PsyGeNET. She has published over 40 peer-reviewed articles, and act as reviewer for the journals Bioinformatics, BMC Bioinformatics, BMC Systems Biology, Database and PLOS journals. She has participated in several FP7 projects (@neurist, EU-ADR) and is currently involved in the IMI (Innovative Medicines Initiative) projects eTOX, OpenPHACTS, EMIF and IPiE and the H2020 project MedBioinformatics.
Her research will contribute to shed light on the biological mechanisms underlying CDG diseases, their comorbid diseases and help in the identification of therapeutic options for CDG patients by applying data and text mining approaches, and linked data methods.
List of 6 publications in the field of CDG:
- J. Piñero, A. Berenstein, A. Gonzalez-Perez, A. Chernomoretz, and L. I. Furlong. Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing. Scientific Reports, 6: 24570, 2016. doi: 10.1038/srep24570. This work describes the characterization of different classes of disease genes based on multi-scale properties of the network and the sensitivity of likely deleterious variation, and shades light on current controversies on the network properties of disease genes.
- J. Piñero, N. Queralt-Rosinach, À. Bravo, J. Deu-Pons, A. Bauer-Mehren, M. Baron, F. Sanz, and L. I. Furlong. DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes. Database, 2015: bav028, 2015. doi: 10.1093/database/bav028. Describes the DisGeNET platform as a knowledge resource on human diseases and their genes, and the suite of tools provided for their use.
- À. Bravo, J. Piñero, N. Queralt-Rosinach, M. Rautschka, and L. I. Furlong. Extraction of relations between genes and diseases from text and large-scale data analysis: implications for translational research. BMC Bioinformatics, 16(1): 55, 2015. doi: 10.1186/s12859-015-0472-9. This article describes the text mining system BeFree for the identification of relationships between biomedical entities, and explores its application to the identification of disease genes.
- L. I. Furlong. Human diseases through the lens of network biology. Trends in Genetics, 29 (3): 150–159, 2013. doi: 10.1016/j.tig.2012.11.004. This article reviews the state of the art on network biology approaches applied to human diseases, highlighting achievements, controverises and the needs not solved at this time.
- Bauer-Mehren, E. M. van Mullingen, P. Avillach, M. D. C. Carrascosa, R. Garcia-Serna, J. Piñero, B. Singh, P. Lopes, J. L. Oliveira, G. Diallo, E. Ahlberg Helgee, S. Boyer, J. Mestres, F. Sanz, J. A. Kors, and L. I. Furlong. Automatic filtering and substantiation of drug safety signals. PLoS Computational Biology, 8 (4), 2012. doi: 10.1371/journal.pcbi.1002457. This article describes a new approach to explain why a drug produces a side effect by network analysis of different omics data including information on drug targets, drug metabolites, biological pathways, protein expression and genes associated to the clinical events elicited by the drug.
- Bauer-Mehren, M. Bundschus, M. Rautschka, M. A. Mayer, F. Sanz, and L. I. Furlong. Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PLoS One, 6 (6), 2011. doi: 10.1371/journal.pone.0020284. This work explores the modularity of functional networks associated to different types of human diseases.
About Vanessa Ferreira
From her unique perspective of being a sister of a patient with a rare disease named Congenital Disorders of Glycosylation (CDG) and Cell Biologist, Vanessa founded the Portuguese CDG Association and other Rare Metabolic Disorders (APCDG-DMR).
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Vanessa’s personal journey with her sister, combined with the community needs, have been the impetus to focus the APCDG activities.
Vanessa received a bachelor’s degree in Biological Sciences from Badajoz University (Spain). She holds a PhD (Sc.D.) in Cell and Developmental Biology from the Center for Genomic Regulation, University of Pompeu Fabra, Biomedical Research Park in Barcelona (PRBB). In 2014, she completed her background with an International MBA from IAE de Paris, Sorbonne Graduate Business School. |
The faces of CDG researcher involved in this project
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João Rodrigues is a final year undergraduate student of Cellular and Molecular Biology, at Faculdade de Ciências e Tecnologias da Universidade de Lisboa. He intends to pursue a Master’s course in Bioinformatics. He was awarded with a "Inés Summer Internship CDG Program for Undergraduate Students 2016". His main goal is to contribute with informatic approaches to CDG research. Currently he is involved in the uncovering of genetical associations of CDG’s as part of his internship. |
Future opportunities and collaborations:
Support our research, advocacy, awareness and education efforts now!
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Our work is publicly available to help the CDG community and related rare disease communities. Importantly, we do not receive government funding. We rely solely on donations in order to continue our projects. Consider to make a donation using Paypal, debit or credit card or bank transfer. |
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