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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
Where families’ own needs and ideas are transformed into research projects.
Work Package 4
Biology to guide CDG therapies
This Work Package (WP) is formed by several Working Groups (WGs)
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Working Group (WG) CDG & Skeleton
Working Group Leader (WGL): Pr David Coman.
Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Australia
This research group is coordinated by Prof David Coman, Prof Fernando Pimentel and Dr Vanessa Ferreira (APCDG).
Skeletal affectation is CDG is still poorly understood, even among the most common types of this family of rare metabolic disorders. However, more and more CDG types have been identified with mild/moderate/severe skeletal abnormalities. Skeletal complications can have a highly negative impact on the quality of life of these patients. A better understanding of the causes, frequency and clinical manisfestations, will help us to put in place more adequate and efficient prevention and treatment strategies.
We partnered with Pro Ravi Savarirayan, who is a top international expert on skeletal dysplasias and a senior clinical geneticist in Australia.
Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Australia
This research group is coordinated by Prof David Coman, Prof Fernando Pimentel and Dr Vanessa Ferreira (APCDG).
Skeletal affectation is CDG is still poorly understood, even among the most common types of this family of rare metabolic disorders. However, more and more CDG types have been identified with mild/moderate/severe skeletal abnormalities. Skeletal complications can have a highly negative impact on the quality of life of these patients. A better understanding of the causes, frequency and clinical manisfestations, will help us to put in place more adequate and efficient prevention and treatment strategies.
We partnered with Pro Ravi Savarirayan, who is a top international expert on skeletal dysplasias and a senior clinical geneticist in Australia.
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 at the end of the page
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Prof David ComanBiography:
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Email: david.coman@hotmail.com
David graduated from the University of Queensland in 1995 and completed his General Paediatric Training in 2005 and sub-specialty (Metabolic Medicine and Clinical Genetics) training in 2006. David has an active interest in research and was awarded a Masters of Philosphy from the University of Queensland in 2007. David is the Medical Director of Paediatrics at the Wesley Hospital, the Academic Lead for Paediatrics for the UnitingCare Clinical School, and a staff-specialist at the Lady Cilento Children’s Hospital. David is currently involved in multiple research projects aimed at novel disease discovery, improved diagnostic testing and treatments for children with Inherited Genetic Disorders. His particular clinical and research interests include Galactosaemia and CDG. A greater understanding and coordination of translational research from the bench and back to the bedside is critical to improve quality of life for patients with rare diseases like CDG.
List of the 6 publications with a major impact for CDG research:
List of the 6 publications with a major impact for CDG research:
- Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO
- 2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. PMID: 268057812. Bursle C, Brown D, Cardinal J, Connor F, Calvert S, Coman D. DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion. JIMD Rep. 2016 Aug 2. [Epub ahead of print] PMID: 27481510
- Coman and Gole Glycobiology and the Paediatric Eye in Health and Disease. Pediatr Therapeut 2013, S3 http://dx.doi.org/10.4172/2161-0665.S3-004
- Coss KP, Byrne JC, Coman DJ, Adamczyk B, Abrahams JL, Saldova R, Brown AY, Walsh O, Hendroff U, Carolan C, Rudd PM, Treacy EP. IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. Mol Genet Metab. 2012 Feb;105(2):212-20. doi: 10.1016/j.ymgme.2011.10.018. PMID: 22133299
- Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res. 2010 Mar;67(3):286-92. doi: 10.1203/PDR.0b013e3181cbd542. PMID: 19952866
- Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R. The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet. 2008 Jun;73(6):507-15. doi: 10.1111/j.1399-0004.2008.01015.x. Review. PMID: 18462449
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Prof Fernando Pimental dos SantosBiography:
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Dr. Fernando M. Pimentel dos Santos graduated in medicine in 1991, following which he did a specialization in rheumatology, having concluded it in 1999. Dr. Pimentel dos Santos received his PhD in Medicine/rheumatology from NOVA Medical School in 2012. After completion of his degree he was appointed as a Coordinator of Rheumatology in Surgical and Medical Specialities and as Coordinator of Master Programmes, at the NOVA University in Lisbon. Dr Pimentel dos Santos is also a researcher at CEDOC (chronic disease research centre at NOVA University). His interests are focused on musculoskeletal diseases (Spondyloarthritis in particular) and their inflammatory, immunologic and genetic background; patient-reported outcome measures is also another focus of interest. In particular his laboratory is currently working on understanding the pathophysiology of these diseses trying to identify new biomarkers with interest for an early diagnosis and therapeutic development. His work in the field of CDG is focused on unravelling immune and skeletal-related complications. He aims to contribute for CDG lives by advancing research, clinical knowledge and care, and by fomenting awareness for this group of rare disease among the medical community. With over 35 publications in peer-reviewd journals, Dr Pimentel is also an Invited referee for several journals and associated Editor of Acta Reumatológica Portuguesa and Frontiers in Medicine.
List of 6 publications in the field of CDG – if not applicable please specify up to 6 publications that can have an impact for CDG research
To be added soon
List of 6 publications in the field of CDG – if not applicable please specify up to 6 publications that can have an impact for CDG research
To be added soon
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Pf Jaak JaekenBiography:
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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:
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:
- 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
- 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
- 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
- VAN SCHAFTINGEN E, JAEKEN J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995;377:318-320
- 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
- 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
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Prof Paula VideiraBiography:
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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 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:
List of current research projects dedicated to CDG:
PhD thesis " Deciphering immunological aspects of Congenital Disorders of Glycosylation (CDG) using a multidisciplinary approach "
(Supervisor of the PhD student Rita Francisco)
Presentation selected within 2 conferences:
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:
PhD thesis " Deciphering immunological aspects of Congenital Disorders of Glycosylation (CDG) using a multidisciplinary approach "
(Supervisor of the PhD student Rita Francisco)
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
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Vanessa FerreiraAbout:
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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.
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.
Prof Ravi SavarirayanAbout:
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To be added soon
The faces of CDG researchers involved in the project
“CDG & Skeleton”
“CDG & Skeleton”
Carlota Pascoal |
Dorinda da Silva |
Rita Francisco |
Carlota Pascoal has a biochemistry degree by Faculdade de Ciências da Universidade de Lisboa, and has concluded her MScs' on Biochemistry for Health at Instituto de Tecnologia Química e Biológica - Universidade Nova de Lisboa. In March 2018, she was awarded the 4th Liliana Scientific Initiation Scholarship.
Her main goal is to contribute for the improvement of Public Health, she is highly motivated and committed to''Assessing immune response in Congenital Disorders of Glycosylation''. Her research is developed under the scope of CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN).
Dorinda da Silva, received her Biochemistry degree in University of Algarve – Faro, Portugal. She defended her PhD thesis on “Study of redox and calcium transport systems microdomains in the plasma membrane of neurons”, in University of Extremadura – Badajoz, Spain. Her work is developed under the scope of the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN). She integrated our working group since beginning February 2016. Dr Dorinda is highly motivated to make a difference in patients lives.
Rita Francisco has a Masters’ degree in Molecular Genetics by the University of Minho and among her main scientific interests are genetic disorders. In 2016, she was awarded the 3rd Liliana Scientific Scholarship. In March 2017, she won a PhD scholarship awarded by Fundação para as Ciências e Tecnologias (FCT) and she is now dedicating herself to unravelling the immunological aspects of CDG. Rita is highly driven and motivated to make a difference in the lives of adults and children living with Congenital Disorders of Glycosylation (CDG). Her work is developed under the scope of the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN). In addition, she is our CDG patient advocate manager and CDG International Patient Relations.
Her main goal is to contribute for the improvement of Public Health, she is highly motivated and committed to''Assessing immune response in Congenital Disorders of Glycosylation''. Her research is developed under the scope of CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN).
Dorinda da Silva, received her Biochemistry degree in University of Algarve – Faro, Portugal. She defended her PhD thesis on “Study of redox and calcium transport systems microdomains in the plasma membrane of neurons”, in University of Extremadura – Badajoz, Spain. Her work is developed under the scope of the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN). She integrated our working group since beginning February 2016. Dr Dorinda is highly motivated to make a difference in patients lives.
Rita Francisco has a Masters’ degree in Molecular Genetics by the University of Minho and among her main scientific interests are genetic disorders. In 2016, she was awarded the 3rd Liliana Scientific Scholarship. In March 2017, she won a PhD scholarship awarded by Fundação para as Ciências e Tecnologias (FCT) and she is now dedicating herself to unravelling the immunological aspects of CDG. Rita is highly driven and motivated to make a difference in the lives of adults and children living with Congenital Disorders of Glycosylation (CDG). Her work is developed under the scope of the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN). In addition, she is our CDG patient advocate manager and CDG International Patient Relations.
Open position!
Inés Summer Internship CDG for Undergraduate Students:
Currently the WP2 expressed interest in hosting a student to conduct summer research focused on diagnosis for CDG.
This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”.
This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”.
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