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WP6 - Clinical and therapeutic CDG research
CDG & Allies - Professionals and Patient Associations
International Network (CDG & Allies-PPAIN)
WG CDG Patient reported Outcomes (PROMs)
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WG CDG Pharmacological chaperones |
WG CDG
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WP – CDG Portugal
Working Group Member (WGM): Paula Garcia, National Reference Center for Inherited Metabolic Diseases, University Hospital of Coimbra, Portugal
About PF Paula Garcia
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PF Paula Garcia
National Reference Center for Inherited Metabolic Diseases, University Hospital of Coimbra, Portugal Email: pg@chuc.min-saude.pt |
Biography:
Dr. Garcia received her Medical Degree from the Abel Salazar Biomedical Institute, Oporto in 1989. After the completion of her degree she has attended several post-graduation courses, many of them on metabolic disorders. Since 1999, Dr Garcia has been working as a pediatrician dedicated to inherited metabolic disorders at the Centre of Child’s Development in the University Hospital of Coimbra. Dr Garcia has been serving as a member of the National Commission for the Treatment of Lysosomal Storage Diseases, being appointed President from 2013 to 2016. Dr. Garcia has participated in various Clinical Trials as Principal Investigator for several disorders, namely Pompe disease, Maroteaux-Lamy Syndrome (MPS VI) and Morquio IVA syndrome (MPS IVA). Moreover, she has collaborated in numerous research projects with various Portuguese research centres, such as the Metabolic and Genetics Centre of the Faculty of Farmacy in Lisbon and the Centre of Medical Genetics Dr Jacinto de Magalhães in Oporto, among others. Dr Garcia has participated in meetings of the European “Advisory Board” in the area of Hereditary Disorders of Metabolism (HDM). She hopes to continue to contribute to CDG lives as a multi-task and complete clinician who actively takes part in clinical trials, biomedical research and patients’ appointments. Dr. Garcia currently serves on the Editorial Board of Acta Pediátrica, scientific journal from the Portuguese Pediatric Society. Dr. Garcia is a consultant for pediatrics in the Order of Physicians and she is co-author of various informative pamphlets and of other materials about HDM for families.
List of 6 publications in the field of CDG :
- “Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1”. Nunes J, Loureiro S, Carvalho S, Pais RP, Alfaiate C, Faria A, Garcia P, Diogo L. Neuroradiol J. 2013 Apr;26(2):155-61. Epub 2013 May 10. PMID: 23859237.
- “Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients”. Luís PB, Ruiter JP, IJlst L, Diogo L, Garcia P, de Almeida IT, Duran M, Wanders RJ, Silva MF. J Inherit Metab Dis. 2012 May;35(3):443-9. Epub 2011 Dec 22.
- “Incidence of maple syrup urine disease in Portugal”. Quental S, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Amorim A, Prata MJ. Mol Genet Metab. 2010 Aug;100(4):385-7. Epub 2010 Apr 22.
- “Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease”. Jones JG, Garcia P, Barosa C, Delgado TC, Diogo L. Metab Eng. 2009 May;11(3):155-62. Epub 2009 Feb 4.
- “Galactosemia: a neurometabolic disease”. Campos AP, Vaz C, Duque F, Leite M, Vilarinho L, Diogo L, Garcia P. Rev Neurol. 2007 Jun 1-15;44(11):702-3.
- “Mitochondrial dysfunction in autism spectrum disorders: a population-based study”. Oliveira G, Diogo L, Grazina M, Garcia P, Ataíde A, Marques C, Miguel T, Borges L, Vicente AM, Oliveira CR. Dev Med Child Neurol. 2005 Mar;47(3):185-9.
Working Group Member (WGM): Esmeralda Martins, Metabolic Unit, Centro Materno Infantil, Centro Hospitalar do Porto (CHP),Porto, Portugal
About Pf Esmeralda Martins
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Pf Esmeralda Martins
Metabolic Unit, Centro Materno Infantil, Centro Hospitalar do Porto (CHP),Porto, Portugal Email: esmeralda.dia@chporto.min-saude.pt; esmeralda.g.martins@gmail.com |
Biography:
Dr. Esmeralda Martins received her Ph.D. in Medical Sciences under the scope of Inborn Errors of Metabolism from the University of Porto in 2011.Prior to that, in 1987 Dr. Martins had completed her MD degree at the Faculty of Medicine, University of Coimbra. Since 1990 she has been a pediatrician, particularly since 2003 Dr. Martins has been an Assistant with special activity in hereditary metabolic disorders. Since 2009, she has been the Head of the Metabolic Diseases Unit at Centro Hospitalar do Porto. Moreover, since 2012 she has been appointed Auxiliary Professor of Pediatrics at the Master Degree course in Medicine in Abel Salazar Institute of Biomedical Sciences (ICBAS) - University of Porto. Dr. Martins has been a Researcher in the Multidisciplinary Biomedical Research Unit (UMIB), ICBAS University of Porto. This year, she became Reference Center Coordinator for the area of Inborn Errors of Metabolism at Porto Hospital Center. Her interests are focused on the pediatrics and Inherited Metabolic Diseases. She hopes to contribute for CDG lives by providing her patients the best care possible and by continuing to develop her research projects. Dr. Martins is also a member of various scientific societies, including the Society for the Study of Inborn Errors of Metabolism. She has been jury in many scientific thesis and member of scientific courses and meetings’ organizing committees Dr. Martins currently serves on the Editorial Board of the section “Genes, Crianças e Pediatras”(Genes, children and pediatricians )in the journal “Nascer e Crescer”.
Dr. Esmeralda Martins received her Ph.D. in Medical Sciences under the scope of Inborn Errors of Metabolism from the University of Porto in 2011.Prior to that, in 1987 Dr. Martins had completed her MD degree at the Faculty of Medicine, University of Coimbra. Since 1990 she has been a pediatrician, particularly since 2003 Dr. Martins has been an Assistant with special activity in hereditary metabolic disorders. Since 2009, she has been the Head of the Metabolic Diseases Unit at Centro Hospitalar do Porto. Moreover, since 2012 she has been appointed Auxiliary Professor of Pediatrics at the Master Degree course in Medicine in Abel Salazar Institute of Biomedical Sciences (ICBAS) - University of Porto. Dr. Martins has been a Researcher in the Multidisciplinary Biomedical Research Unit (UMIB), ICBAS University of Porto. This year, she became Reference Center Coordinator for the area of Inborn Errors of Metabolism at Porto Hospital Center. Her interests are focused on the pediatrics and Inherited Metabolic Diseases. She hopes to contribute for CDG lives by providing her patients the best care possible and by continuing to develop her research projects. Dr. Martins is also a member of various scientific societies, including the Society for the Study of Inborn Errors of Metabolism. She has been jury in many scientific thesis and member of scientific courses and meetings’ organizing committees Dr. Martins currently serves on the Editorial Board of the section “Genes, Crianças e Pediatras”(Genes, children and pediatricians )in the journal “Nascer e Crescer”.
List of 6 publications in the field of CDG
- MAN1B1 deficiency: an unexpected CDG-II. Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. PLoS Genet. 2013 Dec;9(12):e1003989. doi: 10.1371/journal.pgen.1003989
- Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Leão Teles E, Vilarinho L (2011). J Inherit Metab Dis 34: 835-42.
- Methionine adenosyltransferase I/III deficiency in Portugal: high frequency of a dominantly inherited form in a small area of Douro high lands. Martins E, Marcão A, Bandeira A, Fonseca H, Nogueira C, Vilarinho L J Inherit Metab Dis Reports 2012; 6: 107-112
- Biochemical and Molecular characterization of Cystinuria: first report in a cohort of Portuguese patients. Barbosa M, Lopes A, Mota C, Martins E, Mota MC, Oliveira J, Rodrigues-Santos P, Dias C, Fortuna AM, Quelhas D, Lacerda L, De Bonis P, Bisceglia L, Cardoso ML , Clinical Genetics – 2011 Jan; 81(1):47- 55
- Liver transplantation prevents progressive neurological impairment in argininemia. Silva ES, Cardoso ML, Vilarinho L, Medina M, Barbot C, Martins E. J Inherit Metab Dis 2013;11:25-30. doi: 10.1007/8904_2013_218
- D-bifunctional protein deficiency – a cause of neonatal onset seizures and hypotonia Nascimento J; Mota C; Lacerda L; Pacheco S; Chorão R; Martins E; Garrido C. Pediatric Neulology – (2015), doi: 10.1016/j.pediatrneurol.2015.01.007
Working Group Member (WGM):Luísa Diogo,Centro Hospitalar Universitário de Coimbra and Faculty of Medicine, University of Coimbra,Portugal
About Pf Luísa Diogo
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Pf Luísa Diogo
Centro Hospitalar Universitário de Coimbra and Faculty of Medicine, University of Coimbra,Portugal |
Biography:
Dr. Luísa Diogo received her Ph.D. degree under the scope of “Mitochondrial disorders in children: evaluation of diagnosis criteria in a cohort of children” from the Faculty of Medicine of the University of Coimbra in 2010. Prior to that, in 1982 she completed her MD degree at the Medicine Faculty, University of Coimbra. After completion of her degree and since 1991, Dr. Diogo was appointed Paediatrician, at the Metabolic Unit - Paediatric Department- Centro Hospitalar Universitário de Coimbra. Dr. Diogo has served as Head of the Centre of Childhood Development since 2007. Dr. Diogo has had several teaching experiences since 1983, namely as Invited Professor of Pharmacology and Invited Assistant Teacher of Biochemistry at Dr Ângelo da Fonseca Nurse School and Faculty of Medicine, University of Coimbra, respectively. Currently, Dr. Diogo is an Invited Associated Teacher of Biochemistry at the Faculty of Medicine, University of Coimbra
Her interests are focused on paediatrics and metabolic disorders. She aims to contribute for CDG lives by continuing to give the best care possible to her patients and by pursuing her research projects. Dr. Diogo is a member of various scientific societies, namely of Sociedade Portuguesa de Pediatria and Sociedade Portuguesa de Doenças Metabólicas, being an associate founder of the latter. Since 2007, Dr. Diogo has been a Clinical Consultant of the Laboratory of Biochemical Genetics - Center for Neuroscience and Cell Biology University of Coimbra.
Dr. Luísa Diogo received her Ph.D. degree under the scope of “Mitochondrial disorders in children: evaluation of diagnosis criteria in a cohort of children” from the Faculty of Medicine of the University of Coimbra in 2010. Prior to that, in 1982 she completed her MD degree at the Medicine Faculty, University of Coimbra. After completion of her degree and since 1991, Dr. Diogo was appointed Paediatrician, at the Metabolic Unit - Paediatric Department- Centro Hospitalar Universitário de Coimbra. Dr. Diogo has served as Head of the Centre of Childhood Development since 2007. Dr. Diogo has had several teaching experiences since 1983, namely as Invited Professor of Pharmacology and Invited Assistant Teacher of Biochemistry at Dr Ângelo da Fonseca Nurse School and Faculty of Medicine, University of Coimbra, respectively. Currently, Dr. Diogo is an Invited Associated Teacher of Biochemistry at the Faculty of Medicine, University of Coimbra
Her interests are focused on paediatrics and metabolic disorders. She aims to contribute for CDG lives by continuing to give the best care possible to her patients and by pursuing her research projects. Dr. Diogo is a member of various scientific societies, namely of Sociedade Portuguesa de Pediatria and Sociedade Portuguesa de Doenças Metabólicas, being an associate founder of the latter. Since 2007, Dr. Diogo has been a Clinical Consultant of the Laboratory of Biochemical Genetics - Center for Neuroscience and Cell Biology University of Coimbra.
List of 6 publications in the field of CDG
1 - Oliveira R, Garcia P, Quelhas D, Matthijs G, Diogo L. The first COG1 deficient patient - nine years follow-up. J Inherit Metab Dis (2013) 36 (Suppl 2):S91–S342.
2- Carvalho J, Garcia P, Macário M C, Robalo C, Matthijs G, Jaeken J, Quelhas D, Diogo L. ALG1-CDG- Survival into adulthood of a patient with major neurologic presentation. J Inherit Metab Dis (2015) 38 (Suppl 1): S310.
3- Diogo L,Grazina M, Garcia P, Rebelo O, Veiga MA, Cuevas J, Vilarinho L, de Almeida IT, Oliveira CR. Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal. Pediatr Neurol. 2009; 40(5):351-6.
4- Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M. Value of Brain Magnetic Resonance Imaging in the Diagnosis of Mitochondrial Respiratory Chain Disorders in Children. Pediatr Neurol.2010; 42(3):196-200.
5- Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van derKnaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012; 135(Pt 5):1387-94.
6- Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? J Inherit Metab Dis. 2015; 38(5):889-94.
1 - Oliveira R, Garcia P, Quelhas D, Matthijs G, Diogo L. The first COG1 deficient patient - nine years follow-up. J Inherit Metab Dis (2013) 36 (Suppl 2):S91–S342.
2- Carvalho J, Garcia P, Macário M C, Robalo C, Matthijs G, Jaeken J, Quelhas D, Diogo L. ALG1-CDG- Survival into adulthood of a patient with major neurologic presentation. J Inherit Metab Dis (2015) 38 (Suppl 1): S310.
3- Diogo L,Grazina M, Garcia P, Rebelo O, Veiga MA, Cuevas J, Vilarinho L, de Almeida IT, Oliveira CR. Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal. Pediatr Neurol. 2009; 40(5):351-6.
4- Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M. Value of Brain Magnetic Resonance Imaging in the Diagnosis of Mitochondrial Respiratory Chain Disorders in Children. Pediatr Neurol.2010; 42(3):196-200.
5- Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van derKnaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012; 135(Pt 5):1387-94.
6- Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? J Inherit Metab Dis. 2015; 38(5):889-94.
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. |
Future opportunities and collaborations:
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