Work Package 12 - CDG & Allies Community Advisory Committee

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

Objectives:

CDG & Allies Community Advisory Committee advises the Executive Committee on research priorities and progress made from a scientific, awareness and educational viewpoint. Because CDG & Allies – PPAIN is led by families, patient representatives will be represented in majority. This committee is composed of approximately minimum 5/7 members with an expertise and representation from academia, patient organisations, diagnostics, pharmaceutical industry, and regulatory bodies.

Role of a CDG & Allies Community Advisory Committee member

It is intended that the CDG & Allies Community Advisory Committee leverage the experiences, expertise, and insight of key individuals at organizations committed to building professionalism in project management. CDG & Allies Community Advisory Committee members are not directly responsible for managing project activities, but provide support and guidance for those who do.

Members of our CDG & Allies Community Advisory Committee

We are honor to have the following members contributing to make a difference in CDG children and adults lives:

Pf Dr Jaak Jaeken

Email: jaak.jaeken@med.kuleuven.be
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

Sandra Pinto, CDG patient advocate and mother

Sandra Pinto received her graduation in architecture in Portugal. Her son, suffers from the most common form of CDG. This was the motor to make her supporting and advocating for disable people and rare diseases, specifically CDG. She is an active member of APCDG-DMR (Portuguese CDG Association), and the AESCDG (Spanish Association of CDG). She moderates Rareconnect (an EURORDIS initiative to connect rare disease families) and she acts as  representative for FEDER (Spanish Rare Disease Federation)  at the Universal Accessibility Group of CERMI (Spanish Committee for People with Disabilities).
Her professional work, as an architect is dedicated to Universal Accessibility area in partnership with Jorge Palomero at their own office eCapaz, Accessibility and Design for All. She aims to contribute for CDG families by improving their quality of life, by boosting research and increasing strategies to overcome the main needs faced by CDG families, such as delivery and management of health care, inclusive education and culture.  Living in a society without barriers to people with disabilities, is her motto.

Dr Duncan Webster, president and founder to Foundation Glycosylation (FoG) and father

Email: duncan.webster@horizonNB.ca
Duncan graduated from Mount Allison University in 1993 with a BSc in chemistry, biology & physics as well as a BA (honours) in philosophy and religion. He completed his Masters degree in philosophy at the University of New Brunswick in 1998 and graduated from Dalhousie University Medical School in 2001. He completed his Internal Medicine residency training and Infectious Diseases fellowship at the University of Alberta before returning to Dalhousie for Medical Microbiology fellowship training which he completed in 2007.
He subsequently returned to his home in Saint John, New Brunswick in Atlantic Canada where he works as an infectious diseases consultant and medical microbiologist. Duncan has been named an honorary research associate with the University of New Brunswick. He is an associate professor with Dalhousie University and an active teacher with the Dalhousie Medical School. He has numerous research interests and peer-reviewed publications and received the AMMI Canada Dr Juan A. Embil Award for Excellence in Infectious Diseases Research in 2006. He was awarded the Dalhousie Medicine Asclepian Torch Award in recognition for outstanding clinical teaching in 2012. For his innovative work in Infectious Diseases, Duncan was awarded the Dalhousie Medical Alumni Association Young Alumnus of the Year Award in 2012. In 2011, Duncan and his family established Foundation Glycosylation (the FoG) in order to support research for the development of therapies targeting CDG, to help raise awareness of the disorder and to advocate for individuals living with this enzyme deficiency. With this work he is collaborating with researchers at Dalhousie University and was awarded the Tim Cameron Big Heart Award in 2013.
The list of the 6 publications with a major impact for CDG research:
  1. H Li, S Jean, D Webster, GA Robichaud, L Calhoun, JA Johnson, CA Gray. Dibenz[b,f]oxepin and Antimycobacterial Chalcone Constituents of Empetrum nigrum. Journal of Natural Products 2015;78(11):2837-40.
  2. T ONeill, H Li, C Carpenter, JA Johnson, D Webster, C Gray. Optimisation of the microplate resazurin assay for screening and bioassay guided fractionation of phytochemical extracts against Mycobacterium tuberculosis. Phytochemical Analysis 2014;25:461-7.
  3. D Webster, I Umar, G Kolyvas, J Bilbao, MC Guiot, Y Qvarnstrom, K Dupliseam, GS Visvesvara. Treatment of Granulomatous Amoebic Encephalitis with voriconazole and miltefosine in an immunocompetent soldier. American Journal of Tropical Medicine & Hygiene 2012;87(4):715-718.
  4. D Webster, Y Li, N Bastien, R Garceau, T Hatchette. Oseltamivir-resistant Pandemic H1N1 Influenza .Canadian Medical Association Journal 2011;183(7):E420-2. 
  5. D Webster, B Lee, A Joffe, W Sligl, D Dick, A Grolla, H Feldmann, W Yacoub, K Grimsrud, D Safronetz, LR Lindsay. Cluster of cases of hantavirus pulmonary syndrome in Alberta, Canada. American Journal of Tropical Medicine and Hygiene 2007;77(5):914-8.
  6. D Webster, RP Rennie, CL Brosnikoff, L Chui, C Brown. Methicillin-resistant Staphylococcus aureus with reduced susceptibility to vancomycin in Canada. Diagnostic Microbiology and Infectious Disease 2007;57:177-81.
List of current research projects dedicated to CDG:
  • Development of a Zebrafish Disease Model for Congenital Disorder of Glycosylation Employing CRISPR/Cas9 Technology as a Foundation for Therapeutic Studies in Rare Disease Research. Thomas Pulinilkunnil PhD, Petra Kienesberger PHD, Lester Perez PhD, Duncan Webster MD.
List of current grants focused on CDG:
  •  Grant for laboratory research technician through Foundation Glycosylation

Barbara Vulso, Patient Advocate for CDG Italia & CDG Ireland

Email: barbara.dagmaar@gmail.com
Barbara Vulso is mother of Leonardo, a 6yo child who suffers from PMM2-CDG (CDG1a). Since the beginning of her journey with CDG  her interests have been focused in raising awareness towards CDG and on connect with other CDG patients and their families to improve networking and communication. She created CDG Italia, a facebook and social media platform to spread informations in the Italian CDG community. She support and help with the translations of important CDG documents and tool so to make them more accessible for Italian speakers.  She took part in the first and second world conference about CDG both as a partecipant and speaker. You can find her talk on Living with CDG: Challenges and choices on the CDG youtube channel available HERE.
You can join the CDG Italy facebook group HERE.
 Vanessa Ferreira, PhD, Sister, Volunteer and Founder of The Portuguese Association for CDG (APCDG)
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.
Future opportunities and collaborations:
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