APCDG - Congenital Disorders of Glycosylation
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WP5 - Systems Biology and Bioinformatics

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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN)

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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 & 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:
  • 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.
Currently, we are identifying and actively applying for funding to be able to move forward. If you wish to donate for our continuous research efforts please go HERE.
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 Antonio Pineda-Lucena

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DR Antonio Pineda-Lucena
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Instituto de Investigación Sanitaria La Fe,
Hospital Universitario y Politécnico La Fe, Valencia, Spain
​Biography:
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:
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Gozalbes; R.; Jacewicz; M.; Annand; R.; Tsaioun; K; Pineda-Lucena; A. QSAR basedpermeabilitymodelfor drug-like compounds. Bioorg. Med. Chem. 19, pp. 2615 - 2624. 2011.
  6. 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.​

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.

Future opportunities and collaborations:

Submit

Support our research, advocacy, awareness and education efforts now!


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.

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Consider to make a donation using Paypal, debit or credit card or bank transfer. 
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  • About US
    • What we do
    • Who we help >
      • Research
  • Resources
    • Rare CDG
    • Publications
    • Guia Metabolica
    • CDG Facts
    • Task Force CDG Communication >
      • PMM2-CDG (CDG Ia)
      • PGM1-CDG (CDG It)
      • ALG6-CDG (CDG Ic)
  • EDUCATION
  • Awareness
    • Get involved World CDG Awareness Day 2019 >
      • Go Social World CDG Awareness Day 19
      • Spread World CDG Awareness Day 19
      • Plan An Event World CDG Awareness Day 19
      • Frame your CDG Awareness Campaign 19
      • Go green! Think CDG! ©Campaign 19
      • Volunteer World CDG Awareness Day 19
      • Press kit World CDG Awareness Day 19
    • Map of events for World CDG Awareness Day 2019
    • CrowdCDG
    • Awareness Day 2018
    • Awareness Day 2017
    • Awareness Day 2016
    • Rare Diseases
  • Community
    • Join Us - Membership
    • CDG Patient Groups
    • Empowerment
  • Events
    • 1st CDG Satellite Meeting
    • Speakers - World Conference on CDG 2019
    • Registrations - World Conference on CDG 2019
    • Poster submission - World Conference on CDG 2019
    • Follow up - World Conference on CDG 19
    • Volunteer Registration - World Conference on CDG 2019
    • Previous Edition World Conference on CDG 2017 >
      • Follow up - World Conference on CDG 17
      • Speakers - World Conference on CDG 17
  • DONATE
  • BLOG