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.
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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. |
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.
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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’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. |
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