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WP4 -Biology to guide CDG therapies
WG CDG & GlycoImmunology
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WG CDG & Cardioendocrine Health
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WG CDG &
Liver |
WG CDG & Neurology
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WG CDG & Hematology
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WG CDG & Ophtalmology
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Working Group (WG) CDG & GlycoImmunology
Working Group Leader (WGL): Pr Paula Videira (Glycoimmunology Group @ UCIBIO & CEDOC, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia at Universidade Nova de Lisboa, Portugal).
This research is coordinated by Pr Paula Videira and Dr Vanessa Ferreira (APCDG): CDG have immunological involvement which, in some cases is associated with increased mortality risk during infancy due to infection. Although, little research was performed to better understand allergy and immunology affectation in CDG patients. The project “GlycoImmunology for CDG and Allies” intends to increase our understanding about the mechanisms behind altered immune responses frequently observed in CDG patients. This will greatly improve the quality of life of patients and their families. We partnered with Pf Eva Morava from the world reference center for CDG based in Leuven, to develop robust research in this field.
This research is coordinated by Pr Paula Videira and Dr Vanessa Ferreira (APCDG): CDG have immunological involvement which, in some cases is associated with increased mortality risk during infancy due to infection. Although, little research was performed to better understand allergy and immunology affectation in CDG patients. The project “GlycoImmunology for CDG and Allies” intends to increase our understanding about the mechanisms behind altered immune responses frequently observed in CDG patients. This will greatly improve the quality of life of patients and their families. We partnered with Pf Eva Morava from the world reference center for CDG based in Leuven, to develop robust research in this field.
Results obtained so far from this research project:
- Maria Monticelli (2015) has been awarded with the 1st Liliana scientific initiation scholarship
- Tiago João Ferro (PhD Student, MD Student) contributed as researcher
- One publication is under revision at JIMD
- One poster selected to the RE(ACT) congress (International Congress on Research of Rare and Orphan Diseases).
- Poster summarizing the immunological aspects of CDG.
Complete Some quick details to have access to our poster:
- Attendance and presentation through selection at educational events such as the
- Post-graduate course on CDG organized by the Portuguese Society of Inherited Metabolic Diseases on 6 December 2013. More information at http://www.spdm.org.pt/formacao/anteriores/
- Presentations given during the 1st and 2nd World Conference for CDG families and professionals (2013 and 2015).
- 3 presentations at the Workshops on "Think Metabolic, Think CDG" 2016 under the scope of the Educational Program of Excellence on CDG
Future opportunities and collaborations:
About Dr Paula Videira
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Paula Videira Glycoimmunology Group @ UCIBIO Departamento Ciências da Vida Faculdade de Ciências e Tecnologia Universidade Nova de Lisboa 2829-516 Caparica, Portugal Email: p.videira@fct.unl.pt |
Biography:
Professor Paula Videira received her Ph.D. in Instituto Superior Técnico, Universidade Técnica in 2002. After a post-Doctoral position in the same institution, in 2005 she was invited as assistant professor in the Department of Immunology at Faculdade de Ciências Médicas, Universidade NOVA de Lisboa. She founded the Glycoimmunology research group in 2007, which she leads until today. In 2005 Paula moved to Faculdade de Ciências e Tecnologia and she was appointed as a faculty member, assistant professor.
Her main interests are to conduct research in Glycobiology and Immunology, with the goal of identifying novel therapeutic targets. Her group is interested in identifying the role of aberrant glycosylation in cancer and congenital disorders of Glycosylation and its implications in immune response. The ultimate goal is to develop novel antibody-based and dendritic cell (DC)-based immunotherapies. Paula is presently leading both national and international research projects. She supervises six PhD students and several Master students and post docs. She is an author in more than 50 international peer-review publications.
She is the director of the CDG & Allies - Professionals and Patient Associations International Research Network. Thus, Paula work in the field of CDG is focused in fomenting awareness and collaborations between professionals and patients advocates. She is also currently investigating CDG associated immunopathology, aiming to identify key mechanisms and to contribute to improve to ameliorate CDG lives. This work is fully supported thanks to the generosity of families and friends who contributed with little donations during the “One CD=One live CDG” crowdfunding campaign done in 2014.
List of publications in the field of CDG:
- Silva M, Silva Z, Marques G, Ferro T, Gonçalves M, Monteiro M, van Vliet S, Mohr E, Lino AC, Fernandes AR, Lima FA, van Kooyk Y, Matos T, Tadokoro CE and Videira PA. Sialic acid removal from dendritic cells improves antigen cross-presentation and boosts anti-tumor immune responses- Accepted by Oncotargets
- Cabral MG, Silva Z, Ligeiro D, Seixas E. Crespo H, Carrascal M, Silva M, Piteira AR, Paixão P, Lau JTY, Videira PA. 2013 The phagocytic capacity and immunological potency of human dendritic cells is improved by α2,6-sialic acid deficiency. Immunology, 138:235-45; doi: 10.1111/imm.12025.
- Silva Z, Konstantopoulos K, Videira PA. 2012. The Role of Sugars in Dendritic Cell Trafficking. Annals of Biomedical Engineering (invited review, Special Issue). 40:777-89; doi: 10.1007/s10439-011-0448-5.
- Crespo HJ, Cabral MG, Teixeira AV, Lau JTY, Trindade H. Videira PA, 2009. Effect of sialic acid loss on dendritic cell maturation. Immunology. 128: e621-31 (doi:10.1111/j.1365-2567.2009.03047.x)
- Videira PA, Amado IF, Crespo HJ, Alguero MC, Dall’Olio F, Cabral MG, Trindade H. 2008. Surface α2,3- and α2,6-sialylation of human monocytes and derived dendritic cells and its influence on endocytosis Glycoconjugate Journal 25:259-68
List of current research projects dedicated to CDG:
Crowdfunding “One CD=One live CDG”, 2014
Presentation selected within 2 conferences:
- Pf Paula Videira's presentation given during the First World Conference on CDG 2013 available at the APCDG Youtube Channel at: https://www.youtube.com/channel/UCmdrRfzavgJoU67NUf68xpg
- Pf Paula Videira's presentation at the Second World Conference on CDG 2015 available at http://www.apcdg.com/education.html
Well known professionals in the field of CDG are involved in this project:
- Pf Dr Eva Morava (Tulane University Medical Center at the Department of Pediatrics and at Hayward Genetics Center in New Orleans, LA (USA) and Center for Metabolic Diseases, KU Leuven, Leuven, Belgium).
About Pf Dr Eva Morava
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Biography :
Dr. Morava graduated as a Medical Doctor by the University of Pecs, Hungary. She specialized in pediatrics in 1994. Between 1996 and 1998 she participated in the fellowship training program in neonatology and biochemical genetics at the Tulane University Medical Center at the Department of Pediatrics and at Hayward Genetics Center in New Orleans, LA. She specialized in human genetics in 1999. Dr. Morava defended her PhD thesis on Molecular cytogenetic investigations in mental retardation syndromes in 2000, and worked as a clinical geneticist until 2002. From December 2002, she trained in metabolic pediatrics at the Radboud University Nijmegen Medical Center (RUNMC) and worked as a staff member and metabolic pediatrician at the RUNMC since till 2012. Since 2012 she became full professor at the Tulane University Medical Center, at the Hayward Genetics Center, as a biochemical geneticist. Since 2015 she is also faculty at the UZLeuven, in Belgium. Eva Morava is a member of national and international committees and scientific advice groups. Her list of publications includes more than 200 peer reviewed scientific papers. Her special research interests are on congenital disorders of glycosylation (CDG). She has a strong collaboration with the Institute of Genetic and Metabolic Disease at the Radboud University Medical School and established the Nijmegen Center for CDG (www.nijmegencdg.nl). She is the chief editor of the Journal of Inherited Metabolic Disorders. Dr. Morava is currently a full professor of pediatrics at the Hayward Genetics Center at Tulane University, New Orleans and the University Hospitals Leuven, in Belgium.
List of publications in the field of CDG:
List of current research projects dedicated to CDG:
List of current grants focused on CDG:
Hayward Trustee Personal grant: Towards the better diagnosis and treatment in CDG
Biography :
Dr. Morava graduated as a Medical Doctor by the University of Pecs, Hungary. She specialized in pediatrics in 1994. Between 1996 and 1998 she participated in the fellowship training program in neonatology and biochemical genetics at the Tulane University Medical Center at the Department of Pediatrics and at Hayward Genetics Center in New Orleans, LA. She specialized in human genetics in 1999. Dr. Morava defended her PhD thesis on Molecular cytogenetic investigations in mental retardation syndromes in 2000, and worked as a clinical geneticist until 2002. From December 2002, she trained in metabolic pediatrics at the Radboud University Nijmegen Medical Center (RUNMC) and worked as a staff member and metabolic pediatrician at the RUNMC since till 2012. Since 2012 she became full professor at the Tulane University Medical Center, at the Hayward Genetics Center, as a biochemical geneticist. Since 2015 she is also faculty at the UZLeuven, in Belgium. Eva Morava is a member of national and international committees and scientific advice groups. Her list of publications includes more than 200 peer reviewed scientific papers. Her special research interests are on congenital disorders of glycosylation (CDG). She has a strong collaboration with the Institute of Genetic and Metabolic Disease at the Radboud University Medical School and established the Nijmegen Center for CDG (www.nijmegencdg.nl). She is the chief editor of the Journal of Inherited Metabolic Disorders. Dr. Morava is currently a full professor of pediatrics at the Hayward Genetics Center at Tulane University, New Orleans and the University Hospitals Leuven, in Belgium.
List of publications in the field of CDG:
- Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. Am J Hum Genet. 2016 Feb 4;98(2):322-30. dos: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28. PubMed PMID: 26833330; PubMed Central PMCID: PMC4746368.
- Morava E, Wong S, Lefeber D. Disease severity and clinical outcome in phosphosglucomutase deficiency. J Inherit Metab Dis. 2015 Mar;38(2):207-9. doi: 10.1007/s10545-014-9769-5. PubMed PMID: 25288126; PubMed Central PMCID: PMC4344407.
- Janssen MC, de Kleine RH, van den Berg AP, Heijdra Y, van Scherpenzeel M, Lefeber DJ, Morava E. Successful Liver Transplantation and Long-Term Follow-up in a Patient With MPI-CDG. Pediatrics. 2014 Jul;134(1):e279-83. doi: 10.1542/peds.2013-2732. PubMed PMID: 24982104.
- Scott K, Gadomski T, Kozicz T, Morava E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014 Jul;37(4):609-17. doi: 10.1007/s10545-014-9720-9. Epub 2014 May 15. PubMed PMID: 24831587.
- Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation. Expert Rev Mol Diagn. 2014 Mar;14(2):217-24. doi: 10.1586/14737159.2014.890052. Epub 2014 Feb 13. Erratum in: Expert Rev Mol Diagn. 2014 Apr;14(3):401. Morava-Kozicz, Eva [corrected to Morava, Eva]. PubMed PMID:24524732..
- Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. PubMed PMID: 24499211.
List of current research projects dedicated to CDG:
- Dietary intervention in PGM1-CDG:Observational Trial with Galactose Therapy Still Open
- Therapeutic and dietary intervention in CDG: Trial Still Open
- Next generation sequencing in unsolved glycosylation defects
- Novel diagnostic methods in disorders of glycosylation
List of current grants focused on CDG:
- None at present
Hayward Trustee Personal grant: Towards the better diagnosis and treatment in CDG
- Pf Dr Jaak Jaeken (Center for Metabolic Diseases, KU Leuven, Leuven, Belgium).
The faces of CDG researchers involved in the project
“GlycoImmunology for CDG and Allies”
About Carlota Pascoal 2016:
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Carlota Pascoal has a biochemistry degree by Faculdade de Ciências da Universidade de Lisboa, and is currently attending the Master course of Biochemistry for Health at Instituto de Tecnologia Química e Biológica - Universidade Nova de Lisboa.
Her main goal is to contribute for the improvement of Public Health, she is highly motivated and committed in her recently approved Master Thesis Project ''Assessing immune response in Congenital Disorders of Glycosylation''. This research is developed under the scope of CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN). |
About Tiago Ferro
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Tiago Ferro is a motivated PhD and MD Student at UCIBIO @ Faculdade de Ciências e Tecnologia FCT-UNL & NOVA Medical School , Faculdade de Ciências Médicas).
Tiago dedicates efforts on deciphering CDG immunological aspects. This research is developed under the scope of the CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN). |
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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