WP8 – CDG Lobby and Representation

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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN)
Working group (WG) Patient-centered Care
Working group (WG) CDG patient Representative

Working group (WG) Patient-centered Care

Working Group Leader (WGL): Cláudia de Freitas (post-doctoral research fellow at the Centre for Research and Studies in Sociology of the University Institute of Lisbon (ISCTE-IUL) and at the EPI Unit from the Institute of Public Health of the University of Porto, Portugal).

The project “Think Tank 2015 on CDG” aimed at identifying and addressing the difficulties arising from CDG rare disease. Several workshops composed by International key stakeholders have been held during the Second World Conference on CDG 2015 (Lyon, France). The main objective is to raise attention to CDG, to augment recognition of CDG community needs and to actively engage with decision makers.
This unique project was created and coordinated by Dr Vanessa Ferreira PhD, MBA (APCDG-DMR). Dr Cláudia de Freitas led this research.
Results obtained so far from this research project:
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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 Cláudia de Freitas
Claudia de Freitas
​
Email: claudia.defreitas@ispup.up.pt

Biography:
Dr. de Freitas received her Ph.D. in Social Sciences from Utrecht University, in The Netherlands, in 2011. After completion of her degree she started working as post-doctoral research fellow at the Centre for Research and Studies in Sociology of the University Institute of Lisbon (ISCTE-IUL), where she has been since 2012. Since 2015, Dr de Freitas  has been also conducting research as a post-doc student at the Public Health Institute, University of Porto. Dr. de Freitas is currently a member of the EU network COST ADAPT - Adapting European Health Systems to Diversity and of the Coalition for the Study of Health, Power and Diversity. Her interests are focused on the citizen participation in health, technology and innovation, governance and citizenship, migration and health, and health policy. In particular, she is working on understanding the Citizen participation in health governance in Portugal: practice-based recommendations for policy and action. Her work in the field of CDG is focused on identifying the barriers and benefits of several CDG family members and professionals in the participation of health decision-making processes in Portugal. She co-led the project “Think Tank 2015 on CDG” aimed at identifying and addressing the difficulties arising from CDG. She aims to contribute for CDG lives by raising attention to CDG and to actively engage with decision makers. Dr. de Freitas has served as a guest editor of a special issue at Psychosocial Intervention and published in several journals including Social Science & Medicine, Health Policy and Health Expectations.
List of  6 publications in the field of CDG:
  1. Ferreira, Vanessa; De Freitas, C; Videira, Paula; Krasnewich, Donna; Morava, Eva; Silva, Susana; Jaeken, Jaan. 2016. "Needs and opportunities from Congenital Disorders of Glycosylation: Results from the first world think tanks", Trabalho apresentado em RE(ACT) - International Congress on Research on Rare and Orphan Diseases, In Molecular Syndromology, Barcelona
  2. Legido-Quigley, Helena; Karanikolos, Marina; Hernandez-Plaza, Sonia; De Freitas, C; Bernardo, Luis; Padilla, Beatriz; Machado, Rita S; Diaz-Ordaz, Karla; Stuckler, David; McKee, Martin. 2016. "Effects of the financial crisis and Troika austerity measures on health and health care access in Portugal", Health Policy, doi: 10.1016/j.healthpol.2016.04.009
  3. De Freitas, C. 2015. "Aiming for inclusion: a case study of motivations for involvement in mental health-care governance by ethnic minority users", Health Expectations 18, 5: 1093 - 1104.doi: 10.1111/hex.12082
  4. De Freitas, C; Martin, Graham. 2015. "Inclusive public participation in health: Policy, practice and theoretical contributions to promote the involvement of marginalised groups in healthcare", Social Science & Medicine 135, 1: 31 - 39. doi: 10.1016/j.socscimed.2015.04.019
  5. De Freitas, Cláudia (2013) “Beyond the usual suspects: increasing the representation of disadvantaged minorities in health participatory spaces in times of crisis”, European Sociological Association 11th Conference – Abstatract Book, Turin, University of Torino (ISBN 978-88-97523-49-9)
  6. Padilla, Beatriz; Hernandez-Plaza, Sonia; De Freitas, C; Masanet, Erika; Santinho, Cristina; Ortiz, Alejandra. 2013. "Cidadania e diversidade em saúde: necessidades e estratégias de promoção de equidade nos cuidados", Saúde & Tecnologia, Suplemento: 57 - 64.
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). ​
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
About Pf 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  ​
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 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.
The list of publications with a major impact for CDG research: 
  1. 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
  2. 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.
  3. 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.
  4. 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)
  5. 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.
About Pf Jaak Jaeken
Professor Jaak Jaeken received his M.D. degree from the University of Leuven in 1967.  From 1967 to 1973 he trained in paediatrics at the same university. Subsequently he completed a research fellowship in metabolic diseases at the University of Zürich.
In 1975 he returned to Leuven. The contribution of Prof. Jaeken to medicine is exceptional, mainly in the field of metabolic disorders, due to the princeps-description of several metabolic diseases. In 1980, Prof. Jaeken was the first to describe  patients with a congenital disorder of glycosylation (CDG). He received his Ph.D. in 1985. In 1999 he received the degree of Doctor Honoris Causa from the University of Zürich, and in 2000 from the University of Havana. Since 2006, he is Emeritus Professor at the Faculty of Medicine. Prof. Jaeken is currently on the the Editorial Board of The Journal of Inherited Metabolic Disease (since 1994) and of Brain & Development (since 2004). He is a member of numerous societies and councils and he has received many prizes and honours. Prof. Jaeken’s publication list includes 517 papers, including 339 peer reviewed international publications, 2 books, 32 book chapters. He was guest editor of 2 special volumes on CDG. He hopes to continue working in the CDG field. He is an inspiration for the CDG community.
The list of the 6 publications with a major impact for CDG research: 
  1. JAEKEN J, VANDERSCHUEREN-LODEWEYCKX M, CASAER P, et al. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome? Pediatr Res 1980; 14:179
  2. JAEKEN J, VAN EYCK HG, VAN DER HEUL C, CORBEEL L, EECKELS R, EGGERMONT E.  Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.  Clin Chim Acta 1984;144:245-247
  3. JAEKEN J, SCHACHTER H, CARCHON H, DE COCK P, CODDEVILLE B, SPIK G.  Carbohydrate-deficient glycoprotein syndrome type II : a deficiency in Golgi-localized N-acetylglucosaminyltransferase II.  Arch Dis Child 1994; 71:123-127
  4. VAN SCHAFTINGEN E, JAEKEN J.  Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.  FEBS Lett  1995;377:318-320
  5. JAEKEN J, Matthijs G, Saudubray J-M, et al.  Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.  Am J Hum Genet 1998;62:1535-1539
  6. JAEKEN J, VLEUGELS W, REGAL L, et al. RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis 2009; 32:756-757

Future opportunities and collaborations:

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