Project CDG & Liver
Call for participation and help CLOSED
Thank YOU!
203 families have participated and contributed to CDG Research.
Thank to your contribution to the CDG & Liver eQuestionnaire we will be able to generate NEW and IMPORTANT data about liver involvement in CDG .
Thank you for making your Voice heard!
203 families have participated and contributed to CDG Research.
Thank to your contribution to the CDG & Liver eQuestionnaire we will be able to generate NEW and IMPORTANT data about liver involvement in CDG .
Thank you for making your Voice heard!
Results' Sneak Peek
- 203 participants
- The majority of represented patients was under 10 years-old
- The number of female and male represented patients was similar
- 2.6% of represented patients still do not have a full diagnosis (unknown CDG type)
- The vast majority of participants were Mothers
Dr Dorinda da Silva, is currently analysing the data from the eLCDGQ. We estimate to be able to submit the article on July 2017. thus on september 2017 we hope to have all the results publicly available.
Liver CDG Questionnaire (LCDGQ) in English HERE
Your participation can make a difference to better understand the main signs, symptoms, management and psychological impact of liver affectation among CDG patients. The data are gathered and analysed collectively in an anonymous manner. The draft for publication is planned to be ready on 21/01/2017. This can be a tool to be shared with your doctors and make them aware about the possible liver involvement in CDG. At the end of the questionnaire we share a patient friendly document about the liver involvement in CDG.
Complete the Liver CDG questionnaire in English HERE.
If you wish, download below a glossary to help you with definitions related to liver.
If you need additional information about the questionnaire or clarifications on the content, please do not hesitate to write to the following email address: livercdg@gmail.com
Complete the Liver CDG questionnaire in English HERE.
If you wish, download below a glossary to help you with definitions related to liver.
If you need additional information about the questionnaire or clarifications on the content, please do not hesitate to write to the following email address: livercdg@gmail.com
| glossary_liver_and_cdg_english.pdf |
This project is created and coordinated by the International patient-led network CDG & Allies PPAIN, and made possible thanks to a fruitful collaboration with Pf Dr David Cassiman (KU Leuven, Belgium) and Luísa Barros (Lisbon University, Portugal). We wish to increase our current knowledge about the liver involvement in CDG, by complementing with this questionnaire the findings of our work named "Liver involvement in congenital disorders of glycosylation (CDG): a systematic review of the literature". This revision was accepted to be published very soon at the prestigious Journal of Inherited Metabolic Disease.
Questionnaire CDG et fonction hépatique (LCDGQ) en Français ICI
Votre participation peut faire une différence pour mieux comprendre les principaux signes, symptômes, la gestion et l'impact psychologique de l'affectation du foie chez les patients CDG.Les données sont recueillies et analysées collectivement de manière anonyme. La publication est prévu être prêt le 21/01/2017. Cela peut être un outil à partager avec vos médecins et les sensibiliser concernant l'éventuelle affectation du foie dans CDG. À la fin du questionnaire, nous partageons un document de langage simple sur CDG et fonction hepátique.
Complétez le questionnaire CDG et fonction hépatique en français disponible ICI.
Si vous le souhaitez, téléchargez ci-dessous un glossaire pour vous aider à completer le questionnaire.
Si vous avez besoin d'informations supplémentaires sur le questionnaire ou des précisions sur le contenu, n'hésitez pas à écrire à l'adresse email suivante: livercdg@gmail.com
Complétez le questionnaire CDG et fonction hépatique en français disponible ICI.
Si vous le souhaitez, téléchargez ci-dessous un glossaire pour vous aider à completer le questionnaire.
Si vous avez besoin d'informations supplémentaires sur le questionnaire ou des précisions sur le contenu, n'hésitez pas à écrire à l'adresse email suivante: livercdg@gmail.com
| glossaire_cdg_et_foie_français.pdf |
Ce projet a été créé et coordonné par le réseau international conduit par les patients et familles CDG & Allies PPAIN, et fait possible grâce à une collaboration fructueuse avec les Pfs Drs David Cassiman (KU Leuven, Belgique) et Luísa Barros (Universidade de Lisboa, Portugal). Nous souhaitons approfondir nos connaissances actuelles sur la affectation du foie dans le cadre CDG en complétant avec ce questionnaire les résultats de notre travail intitulé «Affectation hépatique dans les CDG: une revue systématique de la littérature». Cette révision a été acceptée pour être publiée très bientôt dans le prestigieux Journal of Inherited Metabolic Disease.
Cuestionario sobre CDG y afectación hepática (LCDGQ) en ESPAÑOL AQUI
Vuestra participación puede marcar la diferencia para comprender mejor los principales signos, síntomas, manejo e impacto psicológico de la afectación hepática entre los pacientes con CDG. Los datos se recopilan y analizan colectivamente de manera anónima. Deseamos tener el artículo finalizado con los resultados de éste proyecto el 21/01/2017. Esto puede ser una herramienta para compartir con vuestros médicos y alertarles de la posible afectación del hígado en CDG. Al final del cuestionario compartimos un documento dirigido para las familias sobre CDG y afectación hepática.
Complete el cuestionario CDG y afectación hepática en Español AQUI.
Si lo desea, descargue debajo de un glosario para ayudarle con las definiciones relacionadas con el hígado.
Si necesita información adicional sobre el cuestionario o aclaraciones sobre el contenido, no dude en escribir a la siguiente dirección de correo electrónico: livercdg@gmail.com
Complete el cuestionario CDG y afectación hepática en Español AQUI.
Si lo desea, descargue debajo de un glosario para ayudarle con las definiciones relacionadas con el hígado.
Si necesita información adicional sobre el cuestionario o aclaraciones sobre el contenido, no dude en escribir a la siguiente dirección de correo electrónico: livercdg@gmail.com
| glosario_cdg_y_higado_español.pdf |
Este proyecto fue creado y coordinado por la red internacional de investigación liderada por las famílias CDG y denominado CDG & Allies PPAIN. Fue hecho realidad gracias a la fructífera colaboración con los Profesores David Cassiman (KU Leuven, Bélgica) y Luísa Barros (Universidade de Lisboa, Portugal). coordinamos un proyecto que pretende aumentar nuestro conocimiento actual sobre la afectación hepática en CDG, completando con este cuestionario los hallazgos de nuestro trabajo denominado "Afectación hepática en los Defectos Congénitos de la Glicosilación (CDG): una revisión sistemática de la literatura". Esta revisión fue aceptada para ser publicada muy pronto en el prestigioso Journal of Inherited Metabolic Disease.
Questionário sobre o fígado nas CDG em Português AQUI
A sua participação pode fazer a diferença e ajudar a compreender melhor os principais sinais, sintomas, gestão e impacto psicológico da afetação hepática junto dos pacientes com CDG. Os dados são recolhidos e analisados colectivamente de forma anónima. Pretendemos ter a publicação com os resultados deste projeto, finalizada em 21/01/2017. Esta publicação pode ser uma ferramenta para sensibilizar os seus médicos sobre o possível envolvimento do fígado nas CDGs. No final do questionário, partilhamos um documento de linguagem simples e acessível para as famílias sobre o envolvimento do fígado nas CDGs.
Complete o questionário sobre o fígado nas CDGs em Português AQUI.
Se desejar, faça o download de um glossário para ajudá-lo com definições relacionadas com o fígado.
Se precisar de informações adicionais sobre o questionário ou esclarecimentos sobre o conteúdo, não hesite em escrever para o seguinte endereço de e-mail: livercdg@gmail.com
Complete o questionário sobre o fígado nas CDGs em Português AQUI.
Se desejar, faça o download de um glossário para ajudá-lo com definições relacionadas com o fígado.
Se precisar de informações adicionais sobre o questionário ou esclarecimentos sobre o conteúdo, não hesite em escrever para o seguinte endereço de e-mail: livercdg@gmail.com
| glossario_fígado_e_cdg_português.pdf |
Este projecto foi criado e coordenado pela rede internacional dirigida pelos doentes e seus familiares denominada CDG & Allies PPAIN, e foi possível graças a uma colaboração frutuosa os Pfs Drs David Cassiman (KU Leuven, Bélgica) e Luísa Barros (Universidade de Lisboa, Portugal). Juntos estamos a coordenar um projeto que visa aumentar o nosso conhecimento atual sobre o envolvimento do fígado no CDG, completando com este questionário parte da informação do nosso trabalho denominado "Envolvimento hepático em doenças congénitas da glicosilação (CDG): uma revisão sistemática da literatura". Esta revisão foi aceite para ser publicada no prestigioso Journal of Inherited Metabolic Disease.
The faces of CDG researchers involved in the project
“Liver involvement in CDG”
About Pf David Cassiman:
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Biography:
Dr. Cassiman received his Ph.D. in 2001 awarded by the Katholieke Universiteit (KU) Leuven. Prior to that he had completed his MD degree in 1996 at KU Leuven. Since the completion of his doctorate he has had a highly diversified career. From 2005 until last year, he was Associate Professor at the Faculty of Medicine at KU Leuven. Last year, he was assigned to the post of Full Professor at KU Leuven. Furthermore, since 2012 he also teaches at University of Hasselt. Moreover, at KU Leuven Dr Cassiman is head of the Hepatology Unit. Alongside his teaching career, Dr Cassiman continues to be a Medical Doctor at UZ Leuven, with focus on liver diseases and metabolic diseases. As far as his career as a Researcher is concerned, Dr Cassiman has been a half-time fundamental clinical researcher at Research Foundation Flanders (FWO) Vlaanderen for ten years now. The variety of his career posts can only be matched by the range of his research interests and projects. Currently, Dr Cassiman is the promotor of four research projects and co-promotor of one. His research interests include metabolic liver diseases (haemochromatosis), Wilson’s disease, rare inborn errors of metabolism, mitochondrial dysfunction, orphan diseases, orphan drugs and orphan drug regulations. Consequently, he has an extensive and remarkable list of publications in several relevant scientific magazines. He hopes his knowledge and work will ultimately make a difference in the lives of CDG patients.
Dr. Cassiman received his Ph.D. in 2001 awarded by the Katholieke Universiteit (KU) Leuven. Prior to that he had completed his MD degree in 1996 at KU Leuven. Since the completion of his doctorate he has had a highly diversified career. From 2005 until last year, he was Associate Professor at the Faculty of Medicine at KU Leuven. Last year, he was assigned to the post of Full Professor at KU Leuven. Furthermore, since 2012 he also teaches at University of Hasselt. Moreover, at KU Leuven Dr Cassiman is head of the Hepatology Unit. Alongside his teaching career, Dr Cassiman continues to be a Medical Doctor at UZ Leuven, with focus on liver diseases and metabolic diseases. As far as his career as a Researcher is concerned, Dr Cassiman has been a half-time fundamental clinical researcher at Research Foundation Flanders (FWO) Vlaanderen for ten years now. The variety of his career posts can only be matched by the range of his research interests and projects. Currently, Dr Cassiman is the promotor of four research projects and co-promotor of one. His research interests include metabolic liver diseases (haemochromatosis), Wilson’s disease, rare inborn errors of metabolism, mitochondrial dysfunction, orphan diseases, orphan drugs and orphan drug regulations. Consequently, he has an extensive and remarkable list of publications in several relevant scientific magazines. He hopes his knowledge and work will ultimately make a difference in the lives of CDG patients.
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).
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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 Dr Patrícia Janeiro
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Dr Patrícia Janeiro
Metabolic Diseases Unit, Paediatric Department, CHLN, Hospital de Santa Maria, Lisbon, Portugal Email: patricia.janeiro@gmail.com |
Biography :
Dr. Patrícia Janeiro graduated from Medical School at the Lisbon Medical University, Portugal in 2001. In 2002 and 2003 she performed the general medical internship at the Lisbon Civil Hospital. From 2005 to 2010 she trained as a paediatrician at the Fernando Fonseca´s Hospital, Amadora. In 2010 she became a consultant in paediatrics, working in the field of inborn errors of metabolism in the Metabolic Unit, Pediatric Department, Hospital de Santa Maria, CHLN, Lisbon.
She has published papers related to various items in paediatric matters such as neurocutaneous disorders, paediatric infectious diseases, nutritional management of newborns in ICU, and also in different metabolic diseases items such as disorders of cholesterol metabolism, trimethylaminuria, phenylketonuria, and fatty-acid β-oxidation defects.
She has conducted lectures on various topics on metabolic inborn errors diseases such as phenylketonuria, metabolic encephalopathies, galactosemia, fatty acid β-oxidation defects, Gaucher disease, mucopolyssacharidosis, MSUD, organic acidurias, acute treatment and nutritional management of metabolic disorders, expanded newborn screening, mitochondrial disorders, and CDGs.
She has been involved in graduate and postgraduate training in metabolic diseases as well as master guidance of medical students.
She is member of the Board of the Portuguese Society of Metabolic Diseases since March 2014, and member of the Organizing and Scientific Committees of International Symposiums of SPDM.
She has collaborated as a co-organizer, with Dr. Ana Gaspar, in the course “Think Metabolic,Think CDG” Academy, in February 2016, an initiative from the CDG Portuguese Association, and participated in the translation of patient information flyers to the “Guia Metabolica”.
Biography :
Dr. Patrícia Janeiro graduated from Medical School at the Lisbon Medical University, Portugal in 2001. In 2002 and 2003 she performed the general medical internship at the Lisbon Civil Hospital. From 2005 to 2010 she trained as a paediatrician at the Fernando Fonseca´s Hospital, Amadora. In 2010 she became a consultant in paediatrics, working in the field of inborn errors of metabolism in the Metabolic Unit, Pediatric Department, Hospital de Santa Maria, CHLN, Lisbon.
She has published papers related to various items in paediatric matters such as neurocutaneous disorders, paediatric infectious diseases, nutritional management of newborns in ICU, and also in different metabolic diseases items such as disorders of cholesterol metabolism, trimethylaminuria, phenylketonuria, and fatty-acid β-oxidation defects.
She has conducted lectures on various topics on metabolic inborn errors diseases such as phenylketonuria, metabolic encephalopathies, galactosemia, fatty acid β-oxidation defects, Gaucher disease, mucopolyssacharidosis, MSUD, organic acidurias, acute treatment and nutritional management of metabolic disorders, expanded newborn screening, mitochondrial disorders, and CDGs.
She has been involved in graduate and postgraduate training in metabolic diseases as well as master guidance of medical students.
She is member of the Board of the Portuguese Society of Metabolic Diseases since March 2014, and member of the Organizing and Scientific Committees of International Symposiums of SPDM.
She has collaborated as a co-organizer, with Dr. Ana Gaspar, in the course “Think Metabolic,Think CDG” Academy, in February 2016, an initiative from the CDG Portuguese Association, and participated in the translation of patient information flyers to the “Guia Metabolica”.
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.
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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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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
About Dorinda da Silva 2016:
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Dr 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.
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About Rita Francisco
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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. 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). She is deciphering the heart aspects of CDG. In addition, she is our CDG community social manager. |
Future opportunities and collaborations:
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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