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My scientific path in Inherited Metabolic Disorders (IMDs) started with a Biochemistry degree (FCUL, 2007)where I characterized Portuguese Phenylketonuria (PKU) patients in my final year, followed by a PhD in Pharmacy (specialization in Molecular and Cellular Biology ¿ FFUL, 2013), under the supervision of Isabel Rivera, Paula Leandro (FFUL) and Belén Pérez (CBMSO ¿ Autónoma Univ, Spain). In my PhD I have proven the use of antisense therapy and pharmacological chaperones as possible treatments for IMDs, resulting in 2 articles (total of 41 citations ¿ ResearcherID in February 2021). After obtaining my PhD in 2013 and until 2017, I did a PostDoc with Belén Pérez (CBMSO ¿ Autónoma Univ,Spain). The project resulted in the following achievements: i) the characterization of oligomerization mutants and elucidation of disease mechanisms, ii) the use of pharmacological chaperones as therapeutic approaches for CDG, specifically PMM2-CDG and Methylmalonic Aciduria (MMA) cblB type, iii) the generation of iPSCs from patient-derived material and generation of hepatocytes. These findings were compiled in 7 articles (total of 81 citations - ResearcherID). During this post-doc I also collaborated with other research groups/investigators in molecular characterization, pathophysiology elucidation and generation of iPSCs in Organic Acidemias, resulting in 2 papers (9 citations - Google Scholar). In 2018, I started my research line in UCIBIO/FCT-NOVA, focused in CDG and in collaboration with Paula Videira (UCIBIO/FCT-NOVA) and Vanessa Ferreira (CDG&Allies-PPAIN/ FCT-NOVA). My work set the basis for patient-centric and driven research in CDG, through the elaboration of protocols with hospitals to test/search immune data from CDG patients, literature reviews to compile scattered information, patient-friendly materials, communication campaigns in social media and liaising between CDG families and professionals, originating 7 articles (90 citations - ResearcherID). In 2019 I co-leaded the submission to Era-Net of the GLYRAIMMUNE project (7 countries). I was also an assistant teacher (total of 98 hours) from 2009 to 2015: teaching for the MSc in Pharmaceutical Sciences (FFUL, 2009), the degree in Biochemistry (Autónoma Univ., 2010/2011) and the degree of Biotechnology (Autónoma Univ/Boston Univ., 2014/2015). From 2013 until now I have supervised 1 MSc students and trained 1 PhD student. I have also been invited as supplementary jury for 2 PhD thesis, as vocal for 1 PhD thesis and as examiner of 1 PhD thesis. I have been involved in several dissemination and communication activities for the medical (¿Cycle of Medicine lectures¿ ¿ Azores Univ., 2018) and general community (¿Talk Science? Communicating Science in Azores¿ ¿Azores Univ., 2019). During my scientific career I was awarded, in highly competitive national calls with 1 FCT individual fellowship (PhD) and 1 Liliana Scientific Initiation Scholarship and have published 19 articles (234 citations, 9 h-index).
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Identificação

Identificação pessoal

Nome completo
Sandra Dolores Arduim Brasil

Nomes de citação

  • Brasil, Sandra
  • Brasil, S.

Identificadores de autor

Ciência ID
B616-6C8F-F9BC
ORCID iD
0000-0003-3977-7872

Websites

Domínios de atuação

  • Ciências Naturais - Ciências Biológicas - Biologia Molecular
  • Ciências Médicas e da Saúde - Ciências da Saúde
  • Ciências Sociais

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Inglês Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador independente (B2) Utilizador proficiente (C1)
Espanhol; Castelhano Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador independente (B2) Utilizador independente (B2)
Português Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2)
Formação
Grau Classificação
2012/04 - 2013/01
Concluído
 Farmácia / Pharmacy (Doutoramento)
Especialização em Biologia Molecular e Celular / Celular and Molecular Biology
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
2013
Concluído
 Farmácia / Pharmacy (Doutoramento)
Especialização em Biologia Molecular e Celular / Celular and Molecular Biology
Universidade de Lisboa Faculdade de Farmácia, Portugal
"New targets and therapeutic approaches in Inherited Metabolic Disorders" (TESE/DISSERTAÇÃO)
 Approved with Honors
2011/04 - 2012/01
Concluído
 Farmácia / Pharmacy (Doutoramento)
Especialização em Biologia Molecular e Celular / Celular and Molecular Biology
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
2011/11/02 - 2011/11/11
Concluído
 Training course for persons who carry out experimental procedures with animals (B Category) validated by Direcção Geral de Veterinária de Portugal. (Outros)
Instituto de Neurobiología Ramón y Cajal, Espanha
2010/04 - 2010/10
Concluído
 Farmácia / Pharmacy (Doutoramento)
Especialização em Celular and Molecular Biology
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
2007/10/03
Concluído
 Bioquímica / Biochemistry (Licenciatura)
Universidade de Lisboa Faculdade de Ciências, Portugal
"Molecular characterization of hyperphenylalaninemic Portuguese patients" (TESE/DISSERTAÇÃO)
 17
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento 		Empregador
2017/07/16 - 2018/07/16 Pós-doutorado (Investigação) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal

Outros

Categoria Profissional
Instituição de acolhimento 		Empregador
2018/07/16 - Atual Post-doc researcher and Patient Advocate Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2013/07/01 - 2017/06/30 Post-doctoral researcher Main activities: validation of pharmacological chaperones, development of patient-derived iPS cell lines and further differentiation to hepatocytes in order to test pharmacolo Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
2015/02/24 - 2015/03/06 Assistant professor in practical sessions. Subject: Principles of Molecular Biology and Biotechnology Degree: International programme University Autónoma de Madrid (UAM) – Boston University Universidad Autónoma de Madrid, Espanha
2009/04/01 - 2013/06/30 PhD student (SFRH/BD/45753/2008). Main activities: characterization of methylmalonic and propionic patients, search for new therapeutical approaches in inherited metabolic disorders. Fundação para a Ciência e a Tecnologia, Portugal
2010/09/27 - 2010/10/28 Assistant professor in practical sessions. Subject: Experimental Biochemistry III Degree: Biochemistry Teaching hours: 32 hours Universidad Autónoma de Madrid, Espanha
2009/09/15 - 2009/12/19 Assistant professor in practical sessions. Subject: Experimental Biochemistry II Degree: Masters in Pharmaceutical Sciences Teaching hours: 42 hours Universidade de Lisboa Faculdade de Farmácia, Portugal
2008/09/08 - 2009/03/31 Research trainee with a scholarship from CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras). Main activities: characterization of methylmalonic cblB type patients. Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
2008/01/02 - 2008/07/02 Research trainee with a scholarship from Education, Audiovisual and Culture Executive Agency (EACEA) - Leonardo da Vinci Lifelong Learning Programme. Main activities: Characterization of methylmaloni Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
Projetos

Projeto

Designação Financiadores
2019 - Atual Novel integrative GLYcan-based approaches to explore molecular mechanisms and progression of RAre diseases with IMMUNological involvement - GLYRAIMMUN
Não financiado
Investigador
REQUIMTE Unidade de Ciências Biomoleculares Aplicadas, Portugal
 European Joint Programme on Rare Diseases (EJP RD)
2019 - Atual Applied Cellular Structural Biology: Molecular Views into Cell Function in Disease
Submitted
Desenvolvimento técnico
REQUIMTE Unidade de Ciências Biomoleculares Aplicadas, Portugal
2019/07/01 - 2020/06/30 Frontiers in Congenital Disorders of Glycosylation Consortium
1U54TR002831-31
Outra
National Center for Advancing Translational Sciences Office of Rare Diseases Research, Estados Unidos
 National Institutes of Health (NIH)
Em curso
2018/05/01 - 2020/04/30 EUROGLYCAN: Towards a new era for the identification and characterization of inborn errors of glycosylation
3M180250
Outra
Agence nationale de la recherche
Em curso
2014 - 2016 Methylmalonic aciduria: Identification of new genes, generation of cellular disease models and research on therapies.
PI13/01239
Bolseiro de Pós-Doutoramento
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
 Instituto de Salud Carlos III
Concluído
2013 - 2015 Development of pharmacological chaperones for neurometabolic rare diseases treatment.
IPT-2012-0561-010000
Bolseiro de Pós-Doutoramento
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
 Gobierno de España Ministerio de Economía y Empresa
Concluído
2012 - 2015 Mitochondria and its implications in human pathology.
PI12/02078
Bolseiro de Doutoramento
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
 Comunidad de Madrid
Concluído
2013 - 2013 Induced pluripotent stem cells (iPS) for the study and treatment of mitochondrial disorders.
13-746/122.05
Bolseiro de Doutoramento
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
 Centro de Investigación Biomédica en Red de Enfermedades Raras
Concluído
2010 - 2013 New therapies for inherited metabolic disorders: gene modulation therapy using mRNA and pharmacological chaperones.
PI10/00455
Bolseiro de Doutoramento
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
 Fondo de Investigación Sanitaria
Produções

Publicações

Artigo em revista
  1. Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; et al. "International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1-CDG ): diagnosis, follow-up and management". Journal of Inherited Metabolic Disease (2020): http://dx.doi.org/10.1002/jimd.12286.
    10.1002/jimd.12286
  2. Francisco, Rita; Pascoal, Carlota; Marques-da-Silva, Dorinda; Brasil, Sandra; Pimentel-Santos, Fernando M.; Altassan, Ruqaiah; Jaeken, Jaak; et al. "New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach". Journal of Clinical Medicine 9 7 (2020): 2092. http://dx.doi.org/10.3390/jcm9072092.
    Publicado • 10.3390/jcm9072092
  3. Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; dos Reis Ferreira, Vanessa; A. Videira, Paula; Valadão, Gonçalo. "Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?". Genes 10 12 (2019): 978. http://dx.doi.org/10.3390/genes10120978.
    Acesso aberto • Publicado • 10.3390/genes10120978
  4. Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; et al. "International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up". Journal of Inherited Metabolic Disease 42 1 (2019): 5-28. http://dx.doi.org/10.1002/jimd.12024.
    Publicado • 10.1002/jimd.12024
  5. Francisco, Rita; Marques-da-Silva, D.; Brasil, Sandra; Pascoal, Carlota; dos Reis Ferreira, V.; Morava, E.; Jaeken, J.. "The challenge of CDG diagnosis". Molecular Genetics and Metabolism 126 1 (2019): 1-5. http://dx.doi.org/10.1016/j.ymgme.2018.11.003.
    Publicado • 10.1016/j.ymgme.2018.11.003
  6. Pascoal, Carlota; Brasil, Sandra; Francisco, Rita; Marques-da-Silva, Dorinda; Rafalko, Agnes; Jaeken, Jaak; Videira, Paula A.; Barros, Luísa; dos Reis Ferreira, Vanessa. "Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review". Orphanet Journal of Rare Diseases 13 1 (2018): http://dx.doi.org/10.1186/s13023-018-0953-9.
    Publicado • 10.1186/s13023-018-0953-9
  7. Brasil, Sandra; Leal, Fátima; Vega, Ana; Navarrete, Rosa; Ecay, María Jesús; Desviat, Lourdes R.; Riera, Casandra; et al. "Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants". Orphanet Journal of Rare Diseases 13 1 (2018): http://dx.doi.org/10.1186/s13023-018-0862-y.
    Publicado • 10.1186/s13023-018-0862-y
  8. Richard, E.; Brasil, Sandra; Briso-Montiano, A.; Alonso-Barroso, E.; Gallardo, M.E.; Merinero, B.; Ugarte, M.; Desviat, L.R.; Pérez, B.. "Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type". Stem Cell Research 29 (2018): 143-147. http://dx.doi.org/10.1016/j.scr.2018.03.021.
    Publicado • 10.1016/j.scr.2018.03.021
  9. Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Marques-da-Silva, Dorinda; Andreotti, Giuseppina; Videira, Paula; Morava, Eva; Jaeken, Jaak; dos Reis Ferreira, Vanessa. "CDG Therapies: From Bench to Bedside". International Journal of Molecular Sciences 19 5 (2018): 1304. http://dx.doi.org/10.3390/ijms19051304.
    Publicado • 10.3390/ijms19051304
  10. Brasil, Sandra; Briso-Montiano, A.; Gámez, A.; Underhaug, J.; Flydal, M.I.; Desviat, L.; Merinero, B.; et al. "New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1864 2 (2018): 640-648. http://dx.doi.org/10.1016/j.bbadis.2017.11.024.
    Publicado • 10.1016/j.bbadis.2017.11.024
  11. Gámez, A.; Yuste-Checa, P.; Brasil, Sandra; Briso-Montiano, Á.; Desviat, L.R.; Ugarte, M.; Pérez-Cerdá, C.; Pérez, B.. "Protein misfolding diseases: Prospects of pharmacological treatment". Clinical Genetics 93 3 (2017): 450-458. http://dx.doi.org/10.1111/cge.13088.
    Publicado • 10.1111/cge.13088
  12. Alonso-Barroso, Esmeralda; Brasil, Sandra; Briso-Montiano, Álvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena; Pérez, Belén; Desviat, Lourdes R.; Richard, Eva. "Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene". Stem Cell Research 23 (2017): 173-177. http://dx.doi.org/10.1016/j.scr.2017.07.021.
    Publicado • 10.1016/j.scr.2017.07.021
  13. Richard, Eva; Brasil, Sandra; Leal, Fátima; Navarrete, Rosa; Vega, Ana; Ecay, María Jesús; Desviat, Lourdes R.; et al. "Isolated and Combined Remethylation Disorders". Journal of Inborn Errors of Metabolism and Screening 5 (2017): 232640981668573. http://dx.doi.org/10.1177/2326409816685732.
    Submetido • 10.1177/2326409816685732
  14. Yuste-Checa, Patricia; Brasil, Sandra; Gámez, Alejandra; Underhaug, Jarl; Desviat, Lourdes R; Ugarte, Magdalena; Pérez-Cerdá, Celia; Martinez, Aurora; Pérez, Belén. "Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG". Human Mutation 38 2 (2016): 160-168. http://dx.doi.org/10.1002/humu.23138.
    Publicado • 10.1002/humu.23138
  15. Stojiljkovic, M.; Klaassen, K.; Djordjevic, M.; Sarajlija, A.; Brasil, Sandra; Kecman, B.; Grkovic, S.; et al. "Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias". Clinical Genetics 90 3 (2016): 252-257. http://dx.doi.org/10.1111/cge.12751.
    Publicado • 10.1111/cge.12751
  16. Yuste-Checa, Patricia; Gámez, Alejandra; Brasil, Sandra; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez-Cerdá, Celia; Pérez, Belén. "The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein". Human Mutation 36 9 (2015): 851-860. http://dx.doi.org/10.1002/humu.22817.
    Publicado • 10.1002/humu.22817
  17. Brasil, Sandra; Richard, E.; Jorge-Finnigan, A.; Leal, F.; Merinero, B.; Banerjee, R.; Desviat, L.R.; Ugarte, M.; Pérez, B.. "Methylmalonic aciduriacblBtype: characterization of two novel mutations and mitochondrial dysfunction studies". Clinical Genetics 87 6 (2014): 576-581. http://dx.doi.org/10.1111/cge.12426.
    Publicado • 10.1111/cge.12426
  18. Jorge-Finnigan, A.; Brasil, Sandra; Underhaug, J.; Ruiz-Sala, P.; Merinero, B.; Banerjee, R.; Desviat, L. R.; et al. "Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type". Human Molecular Genetics 22 18 (2013): 3680-3689. http://dx.doi.org/10.1093/hmg/ddt217.
    Publicado • 10.1093/hmg/ddt217
  19. Brasil, Sandra; Viecelli, Hiu Man; Meili, David; Rassi, Anahita; Desviat, Lourdes R.; Pérez, Belen; Ugarte, Magdalena; Thöny, Beat. "Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency". Human Mutation 32 9 (2011): 1019-1027. http://dx.doi.org/10.1002/humu.21529.
    Publicado • 10.1002/humu.21529
Artigo em revista (magazine)
  1. Brasil, Sandra. "The persuit of a sweet dream", Rare Revolution Magazine, 2019, https://edition.pagesuite-professional.co.uk/html5/reader/production/default.aspx?pubname=&edid=5e15642b-f320-410c-afd5-200f9f8f7b1e&pnum=60.
Poster em conferência
  1. Richard, Eva; Briso-Montiano, Álvaro; Brasil, Sandra; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez, Belén. "Abstract P06.72D: Methylmalonic aciduria cblB type cellular model: Hepatocyte differentiation from iPSC and pharmacological chaperones evaluation". Trabalho apresentado em European Human Genetics Conference (ESGH), 2018.
  2. Briso-Montiano, Álvaro; Gámez, Alejandra; Brasil, Sandra; Desviat, Lourdes R.; Ugarte, Magdalena; García-Fernández, J.; Pérez-Cerdá, Celia; Belén, Pérez. "Abstract P06.73A: Optimization process of potential pharmacological chaperone development: Looking for a PMM2-CDG therapy". Trabalho apresentado em European Human Genetics Conference (ESGH), 2018.
  3. Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Marques-da-Silva, Dorinda; Andreotti, Giuseppina; Videira, Paula A.; Morava, Eva; Jaeken, Jaak; dos Reis Ferreira, Vanessa. "Therapies for congenital disorders of glycosylation: a systematic review.". Trabalho apresentado em 14th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2018.
  4. Briso-Montiano, Álvaro; Gámez, Alejandra; Brasil, Sandra; Desviat, Lourdes R.; Ugarte, Magdalena; Garcia, Josá Manuel; Pérez-Cerdá, Celia; Pérez, Belén. "Toward a PMM2-CDG therapy: optimization process of potential pharmacological chaperones.". Trabalho apresentado em 13th International Congress of Inborn Errors of Metabolism (ICIEM), 2017.
  5. Brasil, Sandra; Leal, Fátima; Vega, Ana; Rodríguez-Pombo, Pilar; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez-Cerdá, Celia; Merinero, Begoña; Pérez, Belén. "Improving the diagnosis of cobalamin and related defects by genomic analysis and functional and structural assessment of the variants identified.". Trabalho apresentado em European Human Genetics Conference (ESGH), 2017.
  6. Richard, Eva; Brasil, Sandra; Briso-Montiano, Álvaro; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez, Belén. "Methylmalonic Aaciduria cblB type: hepatocyte diferentiation from iPS.". Trabalho apresentado em 13th International Congress of Inborn Errors of Metabolism (ICIEM), 2017.
  7. Mugnaini, J.; Brasil, Sandra; Desviat, Lourdes R.; Dodelson de Kremer, R.; Argarana, CE.; Pérez, Belén. "Functional analysis of common splicing mutations detected in HEXB gene causing Sandhoff disease.". Trabalho apresentado em Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 2016.
  8. Brasil, Sandra; Briso-Montiano, Álvaro; Underhaug, Jarl; Merinero, Begoña; Desviat, Lourdes R.; Ugarte, Magdalena; Martinez, Aurora; Pérez, Belén. "Functional characterization of missense mutations identified in methylmalonic aciduria cblB type and rescue by pharmacological chaperone therapy.". Trabalho apresentado em Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 2016.
  9. Klaassen, K.; Stojiljkovic, M.; Djordjevic, M.; Sarajlija, A.; Brasil, Sandra; Kecman, B.; Grkovic, S.; et al. "Novel variants in BCKDHA and BCKDHB genes cause maple syrup urine disease syndrome in Serbian patients.". Trabalho apresentado em European Human Genetics Conference (ESGH), 2016.
  10. Stojiljkovic, M.; Klaassen, K.; Djordjevic, M.; Sarajlija, A.; Brasil, Sandra; Kecman, B.; Grkovic, S.; et al. "Characterization of three MUT and one PCCB novel genetic variants.". Trabalho apresentado em European Human Genetics Conference (ESGH), 2016.
  11. Klaassen, K.; Stojiljkovic, M.; Brasil, Sandra; Djordjevic, M.; Desviat, Lourdes R.; Pavlovic, S.; Pérez, Belén. "Novel p.Gln226Lys mutation in phenylalanine hydroxylase gene resulting in classical PKU.". Trabalho apresentado em Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 2015.
  12. Richard, Eva; Brasil, Sandra; Ugarte, Magdalena; Desviat, Lourdes R.; Pérez, Belén. "Generation and characterization of iPS cells as cellular models for neurometabolic disorders.". Trabalho apresentado em VIII Annual Meeting CIBER on Rare Diseases, 2015.
  13. Brasil, Sandra; Desviat, Lourdes R.; Ugarte, Magdalena; Leandro, Paula; Tavares de Almeida, I; Rivera, Isabel; Pérez, Belén. "Identification of novel mutations in Methylmalonic Aciduria.". Trabalho apresentado em X International Symposium of the Portuguese Society of Metabolic Disorders - Sociedade Portuguesa de Doenças Metabólicas (SPDM), 2014.
  14. Brasil, Sandra; Jorge-Finnigan, A.; Underhaug, Jarl; Ruíz-Sala, P.; Merinero, Begoña; Banerjee, R.; Desviat, Lourdes R.; Martínez, A.; Pérez, Belén. "Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type". Trabalho apresentado em 12th International Congress of Inborn Errors of Metabolism (ICIEM), 2013.
  15. Brasil, Sandra; Desviat, Lourdes R.; Ugarte, Magdalena; Leandro, Paula; Tavares de Almeida, I; Rivera, Isabel; Pérez, Belén. "Abstract APR4: Identification of Novel Mutations in Methylmalonic Aciduria mut type". Trabalho apresentado em 4th Postgraduate iMed.UL Students Meeting, 2012.
  16. Richard, Eva; Brasil, Sandra; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez, Belén. "Abstract P-127: Mitochondrial dysfunction as a phenotypic modifier in isolated methylmalonic aciduria cblB type". Trabalho apresentado em Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 2012.
  17. Pérez, Belén; Sánchez-Alcudia, R.; Brasil, Sandra; Yuste-Checa, Patricia; Thöny, Beat; de la Mata, FJ.; Gómez, R.; Ugarte, Magdalena; Desviat, Lourdes R.. "Abstract C010_2012: Applications and Delivery Options for Antisense Therapy in Celular Models of Inherited Metabolic Diseases". Trabalho apresentado em International Congress on Research of Rare and Orphan Diseases [RE(ACT)®], 2012.
  18. Brasil, Sandra; Jorge-Finnigan, A.; Merinero, Begoña; Barnejee, R.; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez, Belén. "Different Phenotypic Manifestations in Two Siblings with Methylmalonic Aciduria Type B". Trabalho apresentado em VIII International Symposium of Sociedade Portuguesa de Doenças Metabólicas (SPDM), 2011.
  19. Brasil, Sandra; Meili, David; Rassi, Anahita; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez, Belén; Thöny, Beat. "Abstract P14.13: Pseudoexon exclusion by antisense therapy in 6-pyrovuyl-tetrahydropterin synthase deficiency". Trabalho apresentado em European Human Genetics Conference (ESGH), 2010.
  20. Belén, Pérez; Merinero, Begoña; Rincón, A.; Jorge-Finnigan, A.; Brasil, Sandra; Leal, Fátima; Desviat, Lourdes R.; Ugarte, Magdalena. "Abstract P13.04: The Molecular Landscape of Genetic B12 Metabolism Disorders in Patients from Mediterranean and Latin-American Origin". Trabalho apresentado em European Society of Human Genetics (ESHG) Conference, 2009.
Resumo em conferência
  1. Yuste-Checa, Patricia; Brasil, Sandra; Gámez, Alejandra; Underhaug, Jarl; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez-Cerdá, Celia; Martínez, A.; Pérez, Belén. "Abstract O-059: Identification of pharmacological chaperones that increase stability and activity of missense folding mutations in PMM2-CDG". Trabalho apresentado em Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Lyon, 2015.
    Publicado
  2. Brasil, Sandra; Meili, David; Rassi, Anahita; Desviat, Lourdes R.; Pérez, Belén; Ugarte, Magdalena; Thöny, Beat. "Abstract 540-O: Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahidropterin synthase deficiency.". Trabalho apresentado em Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Istanbul, 2010.
    Publicado
Tese / Dissertação
  1. Brasil, Sandra. "New targets and therapeutic approaches in inherited metabolic disorders". Doutoramento, Universidade de Lisboa Faculdade de Farmácia, 2013. http://hdl.handle.net/10451/9336.

Propriedade Intelectual

Patente
  1. Brasil, Sandra; Pérez, Belen; Patricia Yuste-Checa; Aurora Martinez; Magdalena Ugarte; Alejandra Gamez; Jal Underhaug. 2018. "COMPOUNDS FOR TREATING CONGENITAL DISORDERS OF GLYCOSYLATION".
    Concedida/Emitida
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2019/10 Artificial Intelligence (AI) in Rare Diseases: is the future brighter? 1st National Congress on Rare Diseases - 1º Congresso Nacional de Doenças Raras
Sociedade Portuguesa de Medicina Interna (SPMI) (Sintra, Portugal)
2019/05 The challenge of CDG diagnosis uMED 2019: IV Congresso Médico-Científico dos Açores
University of Azores (Ponta Delgada, Portugal)
2019/04 Therapies for Congenital Disorders of Glycosylation: a systematic review. uMED 2019: IV Congresso Médico-Científico dos Açores
University of Azores (Ponta Delgada, Portugal)
2018/07/01 CDG & Allies – PPAIN: a case study 1st Nordic CDG Meeting
Nordic CDG Association (Malmo, Suécia)
2017/03/23 iPS cells as disease models for defects in the mitochondrial propionate oxidative pathway. X Annual Meeting CIBER on Rare Diseases (CIBERER)
Centro de Investigación Biomédica en Red - Enfermedades Raras (CIBERER) (Madrid, Espanha)
2017/03 Rescue of missense mutations causing Methylmalonic Aciduria cblB type by pharmacological chaperone therapy. 13th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM) (Évora, Portugal)
2016/09 Toward a folding therapy for PMM2-CDG. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM)
Society for the Study of Inborn Errors of Metabolism (SSIEM) (Rome, Itália)
2016/03/06 Pharmacological chaperoning for neurometabolic disorders: Therapeutic strategy applicable to PMM2-CDG. IX Annual Meeting CIBER on Rare Diseases
Centro de Investigación Biomédica en Red - Enfermedades Raras (CIBERER) (Barcelona, Espanha)
2015/04 Application of antisense therapies to correct spicing defects in neurometabolic diseases. RNA & oligonucleotide therapeutics.
Cold Spring Harbor Laboratory (Estados Unidos)
2015/03 Generation and characterization of iPS cells as cellular models for neurometabolic disorders. VIII Annual Meeting CIBER on Rare Diseases
Centro de Investigación Biomédica en Red - Enfermedades Raras (CIBERER) (San Lorenzo del Escorial, Espanha)
2014/03 Mitochondrial dysfunction as a phenotype modifier in Methylmalonic Aciduria cblB type. X International Symposium of the Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM)
Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM) (Cascais, Portugal)
2011/12/12 Antisense Therapy in Metabolic Disorders. 3rd Post-Graduate iMed.UL Students Meeting
iMed.UL - Faculty of Pharmacy, University of Lisbon (Lisbon, Portugal)
2011/03 Antisense oligonucleotides correct aberrant PTS-splicing: Therapeutic potential to treat hyperphenylalaninemia and brain monoamine neurotransmitter deficiency. 3rd European Phenylketonuria Group (EPG) Symposium: Advances and challenges in PKU.
European Phenylketonuria Group (EPG) (Lisbon, Portugal)
2010/11 Functional Recovery of 6-Pyruvoyl-tetrahydopterin Synthase Deficiency by Antisense Therapy. VII Annual Symposium of Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM)
Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM) (Algarve, Portugal)
2010/10 Potential Pharmacological Chaperone Therapy for Isolated Methylmalonic Aciduria cblB Type. IV Annual Meeting CIBER on Rare Diseases
Centro de Investigación Biomédica en Red - Enfermedades Raras (CIBERER) (Madrid, Espanha)
2009/11/29 Novel Mutations in the MMADHC gene causing isolated Methylmalonic Aciduria. VI Annual Symposium of the Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM)
the Portuguese Society for Metabolic Diseases (SPDM) (Curia, Portugal)
2009/11/29 Evaluation of the genotype-based responsiveness to BH4 treatment in hyperphenylalaninemic patients. VI Annual Symposium of the Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM)
Portuguese Society for Metabolic Diseases - Sociedade Portuguesa de Doenças Metabólicas (SPDM) (Curia, Portugal)
2007/11/22 Phenylketonuria and related hyperphenylalaninemias: mutational spectrum and genotype-phenotype correlations in south Portugal patients. V International Symposium of The Portuguese Society for Metabolic Disorders - Sociedade Portuguesa de Doenças Metabólicas (SPDM)
The Portuguese Society for Metabolic Disorders (SPDM) (Oporto, Portugal)

Orientação

Título / Tema
Papel desempenhado 		Curso (Tipo)
Instituição / Organização
2015 - 2016 Desarollo de un tratamiento con chaperonas farmacológicas para la aciduria metilmalónica tipo cblB / Development of a new therapeutic strategy based on pharmacological chaperones against methylmalonic aciduria cblB type.
Coorientador
 Genética e Biologia Molecular (Mestrado)
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação) 		Instituição / Organização
2019/01/05 - 2019/07/20 Organização da 4ª Conferência Mundial de CDG. / Organization of the 4th World Conference on CDG: organization of the agenda; organization and contact with the families and scientific committees; responsible of the social media campaigns (Facebook, Twitter, LinkedIN); management of registrations and catering; management of auditorium booking, liaising with families and professionals attending, management of flight and accommodation bookings. (2019/07/25 - 2019/07/27)
Conferência (Membro da Comissão Organizadora)
 CDG&Allies-PPAIN - Faculdade de Ciências e Técnologia da Universidade Nova de Lisboa, Portugal

Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal

Participação em evento

Descrição da atividade
Tipo de evento 		Nome do evento
Instituição / Organização
2019/11/22 - 2019/11/22 Concurso de comunicação em ciência - Fala Ciência? Comunicar Ciência nos Açores - organizado pela Universidade dos Açores / Contest of science communication - Do you talk Science? Communicate Science in Azores - organized by Azores University.
Concurso
 Fala Ciência? Comunicar Ciência nos Açores
Universidade dos Açores - Campus de Angra do Heroísmo, Portugal
2019/11/21 - 2019/11/22 I Encontro Prevenção e Sustentabilidade em Saúde / Conference about sustainability and prevention behaviors in health, applied to the Azorean context.
Encontro
 I Encontro Prevenção e Sustentabilidade em Saúde
Universidade dos Açores Escola Superior de Saúde Angra do Heroísmo, Portugal
2019/11/20 - 2019/11/20 Workshop sobre técnicas de comunicação em ciência. / Workshop about techniques of communication for scientific topics: how to attract the audience, how to choose an interesting topic and metrics for success.
Oficina (workshop)
 Masterclass Introdução prática à comunicação em ciência: short and sweet
Universidade dos Açores - Campus de Angra do Heroísmo, Portugal
2018/03/17 - 2018/03/17 Workshop sobre os avanços na área das CDG (diagnóstico e terapias) que contou com uma mesa redonda com o Prof. Jaak Jaeken e que se realizou no Instituto de Genética Médica Dr. Jacinto Magalhães, Porto / Workshop about current advances in CDG (diagnostics and therapies) with Prof. Jaak Jaeken at Dr Jacinto Magalhães Medical Genetics Institute in Oporto
Oficina (workshop)
 Workshop para Famílias e Profissionais CDG
Associação Portuguesa de Doenças Congénitas da Glicosilação , Portugal
2017/10/17 - 2017/10/20 Data analysis from Next Generation Sequencing (NGS) course. The course was divided into 5 modules: 1.Introduction to NGS techniques; 2.Re-sequencing: variant analysis and coverage; 3. Chip-Seq; 4. RNA-Seq; 5. Metagenomics (16S).
Oficina (workshop)
 Data analysis of Next Generation Sequencing (NGS) course
Centro de Computación Científica – Universidad Autónoma de Madrid, Espanha
2017/06/05 - 2017/06/09 ExPRESS Expert Patient and Researcher EURORDIS Summer School - dedicated to researchers, patients and patients representatives to learn the role of patients in research and to prepare them to be representatives in EMA committees.
Oficina (workshop)
 ExPRESS Expert Patient and Researcher EURORDIS Summer School
European Organization for Rare Diseases (EURORDIS), França
2017/04/26 - 2017/04/26 Agilent Seahorse XF users’ group meeting to present results from research using the Seahorse XF, debate about protocol adjustments/difficulties and improve the use of this apparatus.
Encontro
 Agilent Seahorse XF users’ group meeting.
Margarita Salas Center for Biological Research - Spanish National Research Council (CIB-CSIC), Espanha
2016/12/16 - 2016/12/16 Workshop: Risk management in animal experimentation - "Prevención de riesgos en experimentación animal"
Oficina (workshop)
 Risk management in animal experimentation - "Prevención de riesgos en experimentación animal"
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
2015/05/28 - 2015/05/28 1st Iberian reunion of Seahorse users.
Encontro
 1st Iberian reunion of Seahorse users.
Margarita Salas Center for Biological Research - Spanish National Research Council (CIB-CSIC), Espanha
2013/05/20 - 2013/05/21 Simpósio internacional sobre doenças mitocondriais. / International Symposium – Mitochondrial diseases
Simpósio
 International Symposium – Mitochondrial diseases
Fundación Ramon Areces, Espanha
2012/12/20 - 2012/12/20 Pharmacological chaperones as therapeutic option for Inherited Metabolic Disorders. Meeting to share research on the use of pharmacological chaperones in several rare disorders.
Encontro
 Pharmacological chaperones as therapeutic option for Inherited Metabolic Disorders.
Centro Esther Koplowits - CIBERER, Espanha
2012/02/06 - 2012/02/10 Curso sobre cultura de células nervosas: implementação e caracterização. / Course - Nervous cell culture: Implementation and characterization.
Oficina (workshop)
 Nervous cell culture: Implementation and characterization.
Universidade de Lisboa Faculdade de Farmácia, Portugal
2010/10/26 - 2010/10/27 Curso - modelos animais para doenças humanas / Course - animal models for human disorders.
Oficina (workshop)
 Animal models for human disorders.
Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Espanha
2008/11/04 - 2008/11/04 Workshop: Radiological protection in radioactive facilities.
Oficina (workshop)
 Course: Radiological protection in radioactive facilities.
Logística y Acondicionamientos Industriales, S.A.U. (LAINSA), Espanha
2008/04/15 - 2008/04/15 Workshop: Real-time PCR and DNA Next-generation sequencing: applications.
Oficina (workshop)
 Real-time PCR and DNA Next-generation sequencing: applications.
Parque Científico de Madrid, Espanha
2007/02/02 - 2007/02/03 Proteins in Health and Disease: from structure to function.
Seminário
 Proteins in Health and Disease: from structure to function.
Universidade de Lisboa Faculdade de Farmácia, Portugal

Júri de grau académico

Tema
Tipo de participação 		Nome do candidato (Tipo de grau)
Instituição / Organização
2020/10 Estudios fisiopatológicos para la búsqueda de nuevas dianas terapéuticas en acidemia propiónica mediante la caracterización del modelo murino y el desarrollo de nuevos modelos celulares humanos basados en iPSCs / Pathophysiological studies for the search of new therapeutic targets for Propionic Aciduria by mouse model characterization and new cellular models based on iPSCs
Vogal
 Esmeralda Alonso Barroso (Doutoramento)
Universidad Autónoma de Madrid, Espanha

Comissão de avaliação

Descrição da atividade
Tipo de assessoria 		Instituição / Organização Entidade financiadora
2020/08 - 2020/08 Júri da Innovate Competition - iMed Conference 12.0. Jury for the Innovate Competition - iMed Conference 12.0, that finances scholarships (total of 8,000€) to basic and/or translational research projects. The Innovate Competition is funded by the AstraZeneca Foundation.
Avaliador
 Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal AstraZeneca Produtos Farmacêuticos Lda

Curso / Disciplina lecionado

Disciplina Curso (Tipo) Instituição / Organização
2020/03/12 - 2020/03/12 Genética II - Genética das doenças metabólicas / Genetics II - Genetic of Metabolic Disorders Ciclo Básico de Medicina Universidade dos Açores, Portugal
2018/12/06 - 2018/12/06 Doenças raras: Doenças Congénitas da Glicosilação / Rare diseases: Congenital Disorders of Glycosylation Medicina (Licenciatura) Universidade dos Açores Faculdade de Ciências e Tecnologia Ponta Delgada, Portugal

Membro de comissão

Descrição da atividade
Tipo de participação 		Instituição / Organização
2017/12 - Atual Membro do Work Package 6 (WP6) - Research, Translational activities & Clinical trials. Funções: participação como consultor/revisor na elaboração e implementação de questionários online para várias comunidades de doentes. Member of the Work Package 6 (WP6) - Research, Translational activities & Clinical trials.
Membro
 European Reference Network for Hereditary Metabolic Disorders (MetabERN), Itália
Distinções

Prémio

2017 Prémio à melhor apresentação oral pela Sociedade Portuguesa de Doenças Metabólicas (SPDM) no seu XIII Simpósio Anual - Best oral communication award at Sociedade Portuguesa de Doenças Metabólicas (SPDM) XIII Annual Symposium
2010 Prémio à melhor apresentação oral pela Sociedade Portuguesa de Doenças Metabólicas (SPDM) no seu VII Simpósio Anual - Best Oral Communication Sociedade Portuguesa Doenças Metabólicas (SPDM) Annual Symposium

Outra distinção

2016 Bolsa de viagem concedida pela Society for the Study of Inborn Errors of Metabolism (SSIEM) - Symposium travel fellowship by Society for the Study of Inborn Errors of Metabolism (SSIEM)
2009 Bolsa de doutoramento (4 anos) concedida pela Fundação para a Ciência e a Tecnologia (FCT) (SFRH/BD/45753/2008) - PhD student fellowship (SFRH/BD/45753/2008)
Fundação para a Ciência e a Tecnologia, Portugal
2008 Bolsa de pós-graduação concedida pelo programa European Lifelong Learning – Leonardo da Vinci (6 meses) - Posgraduate fellowship
European Lifelong Learning programme Leonardo da Vinci - Executive Agency (EACEA), Bélgica
2008 Bolsa de investigação individual concedida pelo Centre for Biomedical Network Research on Rare Diseases (CIBERER) (9 meses) - Shuttle postgraduate fellowship
Centro de Investigación Biomédica en Red de Enfermedades Raras, Espanha