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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
Where families’ own needs and ideas are transformed into research projects.
Work Package 5
Systems Biology and Bioinformatics
This Work Package (WP) is formed by several Working Groups (WGs)
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Working Group (WG) CDG & Metabolomics
Working Group Leader (WGL): Antonio Pineda-Lucena
(Director, Drug Discovery Unit, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politécnico La Fe, Valencia, Spain).
This working group uses a combination of molecular and cell biology, metabolomics, computational chemistry and statistics, to help identifying biomarkers for CDG. Dr Pineda-Lucena’s expertise will facilitate the characterization of the biochemical differences underlying the specific response to treatment of different groups of patients. Overall, we will fulfill a significant knowledge gap, needed to set up future clinical studies for CDG.
Results obtained so far from this research project:
(Director, Drug Discovery Unit, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politécnico La Fe, Valencia, Spain).
This working group uses a combination of molecular and cell biology, metabolomics, computational chemistry and statistics, to help identifying biomarkers for CDG. Dr Pineda-Lucena’s expertise will facilitate the characterization of the biochemical differences underlying the specific response to treatment of different groups of patients. Overall, we will fulfill a significant knowledge gap, needed to set up future clinical studies for CDG.
Results obtained so far from this research project:
- A project was written. It aims at applying Dr Lucena-Pineda’s techniques to Pf Paula Videira’s work focused on immunological aspects for CDG. We aim at discovering new biomarkers as well as characterizing the specific response to treatment when we restore CDG cell functions using different drugs already approved in clinics to treat patients with immunodeficiency.
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 at the end of this page.
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DR Antonio Pineda-LucenaBiography:
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DR Antonio Pineda-Lucena | Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politécnico La Fe, Valencia, Spain
Dr Pineda-Lucena received his Ph.D. in Chemistry from the Universidad Autónoma de Madrid, Spain in 1995. After completion of his PhD degree he worked as post-doc student first in Byophysical Chemistry at NSR Center, Radboud Universiteit Nijmegen, in the Netherlands and afterwards in Medical Biophysics at Princess Margaret Hospital, Toronto, Canada. Since 2002 Dr Pineda has occupied several positions in different institutions. In 2002 he was appointed Senior Scientist, at the Department of Structural Biology and Drug Design, AstraZeneca Pharmaceuticals in the UK. He remained in the company until 2005, having been nominated Associate Principal Scientist in 2004. Dr Pineda served as Group Leader of the Structural Biochemistry Laboratory, and Head of the NMR facility, at Centro de Investigación Príncipe Felipe, Valencia, Spain from 2005 to 2015. Moreover, from 2013 to 2015, Dr Pineda was the Director of the Advanced Therapies Programme, at Centro de Investigación Príncipe Felipe, Valencia, Spain. In 2015 Dr Pineda-Lucena joined the Drug Discovery Unit, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politécnico La Fe, Valencia, Spain and was appointed Director of the Unit. His laboratory is currently working to identify early and non-invasive biomarkers of different diseases, as well as to characterize the biochemical differences underlying the specific response to treatment of different groups of patients. Using a combination of experimental approaches (molecular and cell biology, metabolomics, computational chemistry and statistics he hopes to contribute to CDG lives.
List of 6 publications in the field of CDG:
List of 6 publications in the field of CDG:
- Puchades-Carrasco; L.; Palomino-Schätzlein; M.; Pérez-Rambla; C.; Pineda-Lucena; A. Bioinformatics tools for the analysis of NMR metabolomics studies focused on the identification of clinically relevant biomarkers. Brief. Bioinform., in press. 2015.
- Simoes; R.V.; Muñoz-Moreno; E.; Carbajo; R.J.; González-Tendero; A.; Illa; M.; Sanz-Cortés; M.; Pineda-Lucena; A.; Gratacós; E. In vivo detection of perinatal brain metabolite changes in a rabbit model of Intrauterine Growth Restriction (IUGR). PLoS ONE 10, pp. e0131310 - e0131310. 2015.
- Vicente-Muñoz; S.; Morcillo; I.; Puchades-Carrasco; L.; Payá; V.; Pellicer; A.; Pineda-Lucena; A. Nuclear magnetic resonance metabolomic profiling of urine provides a noninvasive alternative to the identification of biomarkers associated with endometriosis. Fertil. Steril. 104, pp. 1202 - 1209. 2015.
- Deacon; S.P.E.; Apostolovic; B.; Carbajo; R.J.; Schott; A.K.; Beck; K.; Vicent; M.J.; Pineda-Lucena; A.; Klok; H.-A.; Duncan; R. Polymer coiled-coil conjugates – therapeutic “molecular switches”. Biomacromolecules 12, pp. 19 - 27. 2011.
- Gozalbes; R.; Jacewicz; M.; Annand; R.; Tsaioun; K; Pineda-Lucena; A. QSAR basedpermeabilitymodelfor drug-like compounds. Bioorg. Med. Chem. 19, pp. 2615 - 2624. 2011.
- Deacon; S.P.E.; Apostolovic; B.; Schott; A.K.; Carbajo; R.; Vicent; M.J.; Pineda-Lucena; A.; Klok; H.-A.; Duncan; R. Polymer therapeutics containing coiled-coils: new therapeutics and linkers. European cell and materials 20, pp. 23 - 23. 2010.
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Vanessa FerreiraAbout:
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Email: sindromecdg@gmail.com
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).
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.
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.
Open position!
Inés Summer Internship CDG for Undergraduate Students:
Currently the WP2 expressed interest in hosting a student to conduct summer research focused on diagnosis for CDG.
This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”.
This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”.
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