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Diogo Alexandre do Nascimento Ribeiro. Completed the Mestrado in Health Sciences in 2012 by Universidade do Minho Escola de Medicina and Licenciatura in Biochemistry in 2008 by Universidade do Porto Faculdade de Ciências. Attends the Doutoramento in Biomedical Sciences by Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar. Is Técnico Superior in Instituto Nacional de Saúde Doutor Ricardo Jorge, Participation in SARS-COV-2 molecular diagnosis in Instituto Nacional de Saúde Doutor Ricardo Jorge, Researcher in Universidade do Porto Centro de Estudos de Ciencia Animal and Head Technician of Newborn Screening for Spinal Muscular Atrophy in Portugal in Instituto Nacional de Saúde Doutor Ricardo Jorge Porto. Published 14 articles in journals. Has 1 section(s) of books. Organized 2 event(s). Participates and/or participated as Principal investigator in 1 project(s), Research Fellow in 2 project(s), Scientific Initiation Fellow in 1 project(s) and Technical development in 4 project(s). Works in the area(s) of Medical and Health Sciences with emphasis on Health Sciences, Medical and Health Sciences with emphasis on Basic Medicine with emphasis on Human Genetics, Natural sciences with emphasis on Biological Sciences with emphasis on Cell Biology, Natural sciences with emphasis on Biological Sciences with emphasis on Molecular Biology and Natural sciences with emphasis on Biological Sciences with emphasis on Genetics and Heredity. In his curriculum Ciência Vitae the most frequent terms in the context of scientific, technological and artistic-cultural output are: Lysosomal glucocerebrosidase; Induced pluripotent stem cells (iPSCs); Cell models; Disease modelling; Sendai virus; Feeder-free culture; Non-integrative vector; Gaucher type 3; Modelos celulares; Lisossoma; Doenças genéticas; Mecanismos de correção; RNA therapeutics; Rare Diseases; Antisense Oligonucleotides; Pre-clinical validation; CRISPR/Cas9; lysosomal storage disorder; in vitro model; in vivo model; Personalized Medicine; microRNA; RNA-seq; Rare diseases; Rare neurodegenerative diseases; Mucopolysaccharidosis III (Sanfilippo syndrome); Animal models; Food Safety/Drug Resistance/Zoonosis/Public Health; Animal Reproduction/Animal Production & Health; Regenerative Medicine/Biomaterials; Carcinogenesis/Helminthes-induced Carcinoma; Genética Humana; Doenças Genéticas; Cérebro; ADN; Sentidos; Brain Awareness; Tay Sachs Variant B1; Cell Models; iPSCs; Induced Pluripotent Stem Cells; .
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Identification

Personal identification

Full name
Diogo Alexandre do Nascimento Ribeiro

Citation names

  • Ribeiro, Diogo

Author identifiers

Ciência ID
F713-02C6-1A87
ORCID iD
0000-0002-4681-0354

Email addresses

  • diogo.ribeiro@insa.min-saude.pt (Professional)

Addresses

  • Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA). Rua Alexandre Herculano, 321, 4000-055, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Medical and Health Sciences - Health Sciences
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Cell Biology
  • Natural sciences - Biological Sciences - Molecular Biology
  • Natural sciences - Biological Sciences - Genetics and Heredity

Languages

Language Speaking Reading Writing Listening Peer-review
English Intermediate (B1) Advanced (C1) Intermediate (B1) Intermediate (B1)
French Intermediate (B1) Intermediate (B1) Beginner (A1) Intermediate (B1)
Spanish; Castilian Beginner (A1) Intermediate (B1) Beginner (A1) Beginner (A1)
Galician Intermediate (B1) Intermediate (B1) Intermediate (B1) Intermediate (B1)
Education
Degree Classification
2019
Ongoing
 Biomedical Sciences (Doutoramento)
Major in Sem especialidade
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"The key to open the neuronal box of tay sachs disease variant B1: cellular models" (THESIS/DISSERTATION)
2012
Concluded
 Health Sciences (Mestrado)
Universidade do Minho Escola de Medicina, Portugal
"Study of the W402X mutation: frequency of this variant of lysosomal a-L-iduronidase in the Portuguese population and analysis of its function" (THESIS/DISSERTATION)
 15 valores
2008
Concluded
 Biochemistry (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Study of gene polymorphism with possible implications for the mechanism of action and resistance to D-cycloserine in Mycobacterium tuberculosis" (THESIS/DISSERTATION)
 14 valores
Affiliation

Science

Category
Host institution 		Employer
2014 - Current Researcher (Research) Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal

Other Careers

Category
Host institution 		Employer
2019/02/01 - Current Técnico Superior (Técnico Superior) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Others

Category
Host institution 		Employer
2022/09 - Current Head Technician of Newborn Screening for Spinal Muscular Atrophy in Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2020/04/20 - Current Participation in SARS-COV-2 molecular diagnosis Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2018/01/15 - 2019/01/31 FCT Research Fellow under the project "Cellular models for the study of lysosomal dysfunction and correction mechanisms (CeMoLy)" (Ref.: PTDC/BIM-MEC/4762/2014). Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016/12/02 - 2017/11/30 Research fellow under the research project "Metabolic Diseases Masquerading as Primary Progressive Multiple Sclerosis" (Ref.: MERCK/MS/DGH/jn2016), funded by MERCK. Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2013/01/01 - 2014/12/31 Formal member of the research team of the project "Molecular and cellular defects of cystatin B - from cell to population". Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2010/05/01 - 2012/12/31 Research Fellow FCT PIC/IC/82822/2007 "Prognosis and prevention in a few inherited diseases existing in the Portuguese population". Area: Lysosomal Storage Diseases. Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2010/09/21 - 2012/05/05 Master's Thesis: "Study of the W402X mutation: frequency of this variant of lysosomal a-L-iduronidase in the Portuguese population and analysis of its function". Universidade do Minho Escola de Medicina, Portugal
2009/05/01 - 2010/04/30 FCT Scientific Initiation Scholarship PIC/IC/82822/2007 "Prognosis and prevention in a few inherited diseases existing in the Portuguese population". Area: Lysosomal Storage Diseases. Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2009/02/01 - 2009/08/31 Volunteer Internship: Learning and autonomous application of techniques used in the area of Developmental Biology - Drosophila Genetics. Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2008/03/01 - 2008/07/31 Curricular Internship: "Study of gene polymorphism with possible implications for the mechanism of action and resistance to D-cycloserine in Mycobacterium tuberculosis". Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2007/06/27 - 2007/07/26 Volunteer Internship: Training in Transmission Electron Microscopy techniques, lasting 35 hours. Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Projects

Contract

Designation Funders
2020 - Current Genetic Substrate Reduction Therapy for MPS III: Toward a siRNA-containing nanoparticle targeted to brain cells
Sanfilipo Childrens Foundation Project
Technical development
Ongoing
2019/01/01 - Current The key to open the neuronal box of Tay Sachs disease variant B1: cellular models
Doutoramento INSA/ICBAS-UP
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Ongoing
2019 - Current Genetic Substrate Reduction Therapy for Mucopolysaccharidoses Toward a siRNA-containing nanoparticle targeted to brain cells
BOLSA SPDM DE INVESTIGAÇÃO 2018
Technical development
Ongoing
2023/03/01 - 2024/08/31 Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents
2022.04667.PTDC
10.54499/2022.04667.PTDC
Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal

Universidade do Porto Faculdade de Desporto, Portugal

Centro Hospitalar Universitário de Santo António, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Centro Hospitalar Universitário Lisboa Norte EPE, Portugal

Centro Hospitalar Universitário de São João, Portugal

Instituto de Astrofísica e Ciências do Espaço, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2023/03/01 - 2024/08/31 New models for the most frequent Mucolipidosis II-causing mutation using iPSCs and zebrafish: a crucial step towards the development of new therapies
2022.03836.PTDC
10.54499/2022.03836.PTDC
Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal

Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2022/01/02 - 2024/01/01 RNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases
EXPL/BTM-TEC/1477/2021
10.54499/EXPL/BTM-TEC/1477/2021
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Centro Hospitalar Universitário de Santo António, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2022/01/01 - 2023/12/31 Neurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
EXPL/BTM-SAL/0659/2021
10.54499/EXPL/BTM-SAL/0659/2021
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Porto Faculdade de Desporto, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2016/05/01 - 2020/01/31 Cellular models for the study of lysosomal dysfunction and correction mechanisms (CeMoLy)
PTDC/BIM-MEC/4762/2014
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Algarve, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2019/01/01 - 2019/12/31 Centro de Estudos de Ciência Animal
UID/Multi/00211/2019
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal

Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2016/12/02 - 2017/11/30 Metabolic Diseases Masquerading as Primary Progressive Multiple Sclerosis
MERCK/MS/DGH/jn2016
Research Fellow
Concluded
2013/01/01 - 2014/12/31 Molecular and cellular defects of cystatin B - from cell to population
BOLSA SPDM / GENZYME 2012
Technical development
Concluded
2010/05/01 - 2012/12/31 Prognosis and prevention in a few inherited diseases existing in the Portuguese population (BI)
PIC/IC/82822/2007
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Concluded
2009/05/01 - 2010/04/30 Prognosis and prevention in a few inherited diseases existing in the Portuguese population (BIC)
PIC/IC/82822/2007
Scientific Initiation Fellow

Other

Designation Funders
2021 - Current Proteome profiling of urine samples and genetic determinants of Portuguese patients infected with SARS-CoV-2
2020DGH1718
Technical development
Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal
 Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares
Cancelled
Outputs

Publications

Book chapter
  1. Amaral, Olga; Duarte, Ana; Ribeiro, Diogo; Santos, Renato; Bragança, José. "Applications of iPSCs in Gaucher Disease and other rare sphingolipidoses". In iPSCs - State of the Science, 197-224. Elsevier, 2022.
    10.1016/b978-0-323-85767-3.00001-3
Conference abstract
  1. Amaral, Olga; Ribeiro, Diogo; Duarte, Ana Joana. "Proceedings- A FIRST STEP TO OPEN THE NEURONAL BOX OF GAUCHER DISEASE: NEURAL PROGENITOR CELLS". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH ¿ Sociedade Portuguesa de Genética Humana), virtual, 2021.
    Published
Conference poster
  1. Carvalho, S.; Santos, J.I.; Moreira, L.; Gaspar, P.; Gonçalves, M.; Matos, L.; Encarnação, M.; et al. "The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders". Paper presented in 2th AL4AnimalS Meeting, 2023.
  2. Duarte, A.J.; Moreira, L.; Ribeiro, Diogo; Amaral, O.. "Gene Editing in Fabry Disease: A Strategy Delineation". Paper presented in 26ª Reunião Anual da SPGH, 2022.
  3. Ribeiro, Diogo; Duarte, A.J.; Moreira, L.; Santos, R.; Encarnação, M.; Silva, L.; Alves, S.; Amaral, O.. "Building a Tay Sachs variant B1 cellular model". Paper presented in 26ª Reunião Anual da SPGH, 2022.
  4. Ribeiro, Diogo; Duarte, A.J.; Moreira, L.; Santos, R.; Encarnação, M.; Silva, L.; Alves, S.; Amaral, O.. "Induced pluripotent stem cells (iPSCs) and NGS as the basis for a Tay Sachs disease variant B1 cellular model". Paper presented in CIISA Congress 2022 - “Innovation in Animal, Veterinary and Biomedical Research", 2022.
  5. Moreira, L.; Coutinho, M.F.; Carvalho, S.; Duarte, A.J.; Ribeiro, Diogo; Santos, J.I.; Gonçalves, M.; et al. Corresponding author: Moreira, L. "Pluripotent cells and zebrafish: two complementary platforms for modelling Lysosomal Storage Disorders". Paper presented in CIISA Congress 2022 - “Innovation in Animal, Veterinary and Biomedical Research", 2022.
  6. Ribeiro, Diogo; Duarte, A.J.; Moreira, L.; Santos, R.; Encarnação, M.; Silva, L.; Alves, S.; Amaral, O.. "iPSCs and NGS as the basis for a Tay Sachs disease variant B1 cellular model". Paper presented in 3º Dia do Jovem Investigador 2022 – Instituto Nacional de Saúde Doutor Ricardo Jorge, 2022.
  7. Duarte, A.J.; Moreira, L.; Ribeiro, Diogo; Amaral, O.. "iPSCs-derived Cardiomyocytes and Future Perspectives". Paper presented in 3º Dia do Jovem Investigador 2022 – Instituto Nacional de Saúde Doutor Ricardo Jorge, 2022.
  8. CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""The disease modelling value of baby teeth: a new way to unlock knowledge about a special group of genetic disorders"". Paper presented in Dia do Jovem Investigador INSA, 2022.
  9. CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""When folklore meets science: the 21st century baby teeth collector that is helping us SHED light over rare genetic disorders"". Paper presented in 26th Annual Meeting Sociedade Portuguesa de Genética Humana, 2022.
  10. Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. Corresponding author: Carvalho, Sofia. "Generation of mice expressing in the liver human splicing mutations: a good model to test in vivo the therapeutic efficacy of modified U1 snRNAs for Mucopolysaccharidosis type IIIC". Paper presented in 26th Annual Meeting Sociedade Portuguesa de Genética Humana, 2022.
  11. Ribeiro, Diogo; Duarte, A.J.; Moreira, L.; Santos, R.; Encarnação, M.; Silva, L.; Coutinho, M.F.; Alves, S.; Amaral, O.. "Tay Sachs disease variant B1: iPSC and NGS as basis for a cellular model". Paper presented in 24th ESGLD Workshop and graduate course, 2022.
  12. Carvalho, Sofia; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""Baby Teeth patient-derived stem cells: an innovative model to SHED light over MPS pathology"". Paper presented in ESGLD, 2022.
  13. CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""Help comes from unexpected places: how a tiny fairy and a tropical fish may help us model Mucopolysaccharidosis type III"". Paper presented in ESGLD, 2022.
  14. Correia, M.; Ribeiro, Diogo; Duarte, A.J.; Amaral, O.. "Cell lines for the study of Lysosomal Storage Diseases: conservation and identity". Paper presented in 2nd Workshop on Sphingolipids in Health and Disease, 2022.
  15. Encarnação, M.; Ribeiro, I.; Coutinho, M.F.; Silva, L.; Ribeiro, Diogo; Vieira, L.; Marcão, A.; et al. "Gene panels and RNA-Seq approaches as tools to understand rare genetic Sphingolipidoses: the Niemann-Pick type C exemple". Paper presented in 2nd Workshop on Sphingolipids in Health and Disease, 2022.
  16. Coutinho, M.F.; Santos, J.I.; Carvalho, S.; Ribeiro, D.; Gaspar, P.; Matos, L.; Duarte, A.J.; et al. "THE 2020S TOOTH FAIRY: FROM LOOSE TOOTH TO NEURONAL CELL CULTURES, AN INNOVATIVE METHOD TO MODEL NEUROLOGIC LYSOSOMAL STORAGE DISEASES IN VITRO". Paper presented in 25ª Reunião Anual da SPGH, 2021.
  17. Duarte, Ana Joana; Ribeiro, Diogo; Moreira, Luciana; Amaral, Olga. Corresponding author: Amaral, Olga. "Can cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSCs generated models". Paper presented in 25ª Reunião Anual da SPGH, 2021.
  18. Ribeiro, Diogo; Amaral, Olga; Encarnação, Marisa; Silva, Lisbeth; Alves, Sandra. Corresponding author: Amaral, Olga. "Preliminary characterization of lysosomal-related genes in two Tay-Sachs variant B1 fibroblast cell lines". Paper presented in 25ª Reunião Anual da SPGH, 2021.
  19. Ribeiro, D.; Duarte, A.J.; Amaral, O.. "From Lysosomal Storage Disease iPSCs models to gene editing therapy: future perspectives". Paper presented in 1st Symposium on Oligonucleotide Technologies and Therapeutics@Portugal – OTP2021, 2021.
  20. Ribeiro, D.; Duarte, A.J.; Amaral, O.. "Future perspectives using Lysosomal Storage Disease iPSCs models and gene editing therapy". Paper presented in Encontro com a Ciência e Tecnologia em Portugal – Encontro Ciência 2021, 2021.
  21. Duarte, A.J.; Ribeiro, D.; Amaral, O.. "Constructing a cardiac cell model from a patient with Fabry Disease". Paper presented in Genetics Virtual Week 2021, 2021.
  22. Ribeiro, Diogo; Duarte, A.J.; Santos, R.; Amaral, O.. "A FIRST STEP TO OPEN THE NEURONAL BOX OF GAUCHER DISEASE: NEURAL PROGENITOR CELLS". Paper presented in 24ª Reunião Anual da SPGH, 2020.
  23. Duarte, A.J.; Ribeiro, Diogo; Bragança, J.; Amaral, O.. "INDUCED PLURIPOTENT STEM CELLS DERIVED CARDIOMYOCYTES FROM A PATIENT WITH FABRY DISEASE: A WORK IN PROCESS CELL MODEL". Paper presented in 24ª Reunião Anual da SPGH, 2020.
  24. Santos, R.; Ribeiro, Diogo; Amaral, O.. "What about the host? A possible answer using iPSCs". Paper presented in Coronavirus Virtual Webinar Series, 2020.
  25. Santos, R.; Ribeiro, Diogo; Amaral, O.. "Gene expression analyses of Fabry and Gaucher disease cells in different stages". Paper presented in Genetics Virtual Week 2020, 2020.
  26. Ribeiro, Diogo; Duarte, A.J.; Alves, S.; Amaral, O.. "The key to open the neuronal box of Tay Sachs disease variant B1: cellular models". Paper presented in Segundo Encontro do Doutoramento em Ciências Biomédicas do ICBAS, 2019.
  27. Amaral, O.; Ribeiro, Diogo; Duarte, A.J.; Bragança, J.. "Gaucher disease and iPSCs: what does the future hold?". Paper presented in 13th European Working Group on Gaucher Disease Congress (EWGGD 2019), 2019.
  28. Duarte, A.J.; Moreira, L.; Ribeiro, Diogo; Bragança, J; Amaral, O.. "From fibroblastos to cardiomyocytes in lysosomal storage disorders". Paper presented in 15th International Symposium SPDM, 2019.
  29. Ribeiro, Diogo; Duarte, A.J.; Moreira, L.; Alves, S.; Amaral, O.. "First steps to generate a new Tay Sachs disease variant B1 cellular model". Paper presented in 15th International Symposium SPDM, 2019.
  30. Moreira, L.; Duarte, A.J.; Ribeiro, Diogo; Amaral, O.. "CRISPR/Cas in iPSCs from sphingolipidoses patients". Paper presented in 15th Annual WORLDSymposium, 2019.
  31. Nogueira, C.; Ribeiro, Diogo; Sá, M.J.; Guimarães, J.; Seabra, M.; Macário, M.C.; Silva, A.M.; Vilarinho, L.. "Metabolic diseases: a differential diagnosis of primary progressive multiple sclerosis". Paper presented in 5th edition of the International Congress of Multiple Sclerosis, 2019.
  32. Duarte, A.J.; Moreira, L.; Ribeiro, Diogo; Bragança, J.; Amaral, O.. "Upstream of precise disease models for better downstream decision making". Paper presented in The International Congress on Advanced Treatments in Rare Diseases (RARE2018), 2018.
  33. Duarte, A.J.; Ribeiro, Diogo; Moreira, L.; Bragança, J.; Amaral, O.. "From iPSCs to Gene Editing in Lysosomal Storage Disorders". Paper presented in 6th Annual Genetics and Genomics Virtual Conference, 2018.
  34. Encarnação, M.; Coutinho, M.F.; Matos, L.; Silva, L.; Ribeiro, Diogo; Nogueira, C.; Vilarinho, L.; Alves, S.. "Next Generation Sequencing and Lysosomal Dysfunction – Novel mutations associated with Neurodegenerative disorders". Paper presented in 14th International SPDM Symposium, 2018.
  35. Encarnação, M.; Coutinho, M.F.; Silva, L.; Ribeiro, Diogo; Nogueira, C.; Vilarinho, L.; Alves, S.. "Neurodegenerative Lysosomal Diseases Approached by Next-Generation Sequencing". Paper presented in 21ª Reunião da Sociedade Portuguesa de Genética Humana, 2017.
  36. Nogueira, C.; Sá, M.J.; Guimarães, J.; Macário, M.C.; Batista, S.; Gouveia, A.; Silva, A.M.; et al. "Metabolic Diseases Masquerading As Primary Progressive Multiple Sclerosis". Paper presented in 4th International Porto Congress of Multiple Sclerosis, 2017.
  37. Coutinho, M.F.; Encarnação, M.; Nogueira, C.; Silva, L.; Ribeiro, Diogo; Alves, S.. "Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases". Paper presented in 13th International SPDM Symposium, 2017.
  38. Duarte, A.J.; Ribeiro, Diogo; Chaves, J.; Amaral, O.. "Cellular characterization of normal and mutant cystatin B". Paper presented in XVIII Congresso Nacional de Bioquímica, 2014.
  39. Amaral, O.; Duarte, A.J.; Pinto, E.; Ribeiro, I.; Lopes, L.; Ribeiro, Diogo. "Genetic variation in a gene involved in glycosphingolipid biosynthesis". Paper presented in 63rd Annual Meeting of The American Society of Human Genetics, 2013.
  40. Duarte, A.J.; Ribeiro, Diogo; Chaves, J.; Amaral, O.. "Study of Cellular Localization of Cystatin B in Unverricht-Lundborg Disease". Paper presented in IX International Symposium of SPDM, 2013.
  41. Ribeiro, Diogo; Amaral, O.. "Reversing the effect of the IDUA gene W402X mutation?". Paper presented in 16ª Reunião Anual da SPGH, 2012.
  42. Amaral, O.; Duarte, A.J.; Pinto, E.; Ribeiro, I.; Ribeiro, Diogo; Freitas, J.; Chaves, J.. "Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy". Paper presented in 8th Annual Research Meeting of the WORLD Symposium on Lysosomal Disease Networks, 2012.
  43. Duarte, A.J.; Ribeiro, Diogo; Amaral, O.. "Genetic Variation in a Common Biomarker Encoded By CHIT1". Paper presented in 8th Annual Research Meeting of the WORLD Symposium on Lysosomal Disease Networks, 2012.
  44. Duarte, A.J.; Ribeiro, Diogo; Amaral, O.. "Genetic Variation in CHIT1". Paper presented in VIII International Symposium of SPDM, 2011.
  45. Ribeiro, Diogo; Duarte, A.J.; Amaral, O.. "Characterization of a common IDUA mutation in the portuguese population". Paper presented in VIII International Symposium of SPDM, 2011.
  46. Duarte, A.J.; Ribeiro, Diogo; Amaral, O.. "Allelic frequency of G102S and A442G CHIT1 in the Portuguese population". Paper presented in 18th ESGLD Workshop, 2011.
  47. Amaral, O.; Freitas, J.; Pinto, E.; Duarte, A.J.; Ribeiro, I.; Ribeiro, Diogo; Chaves, J.. "New splicing mutation in the cystatin B gene". Paper presented in 18th ESGLD Workshop, 2011.
  48. Ribeiro, Diogo; Duarte, A.J.; Amaral, O.. "Study of the W402X mutation frequency of the lysosomal a-L-iduronidase gene in the Portuguese population". Paper presented in XVII Congresso Nacional de Bioquímica, 2010.
  49. Ribeiro, Diogo; Duarte, A.J.; Amaral, O.. "Allelic Discrimination of the Hexosaminidase A c.533G>A mutation". Paper presented in The EMBO Meeting, 2010.
    10.1145/1276958.1277206
  50. Amaral, O.; Duarte, A.J.; Ribeiro, Diogo; Pinto, E.; Oliveira, P.. "Genetic diversity in lysosomal disorders in Portugal". Paper presented in The Genetics 2010: model organisms to human biology, 2010.
  51. Pinto, E.; Lopes, L.; Ribeiro, Diogo; Duarte, A.J.; Rocha, S.; Oliveira, P.; Amaral, O.. "Molecular bases of Lysosomal Storage Diseases in Portugal: preliminary results of a retrospective screening". Paper presented in 17th ESGLD Workshop, 2009.
Journal article
  1. Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Duarte; Gaspar P; Hugo Rocha; Marisa Encarnação; et al. "Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients". International Journal of Molecular Sciences (2024): https://www.mdpi.com/1422-0067/25/6/3546.
    10.3390/ijms25063546
  2. Carvalho, Sofia; Moreira, Luciana; Santos, Juliana Inês; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al. "Help Comes from Unexpected Places: How a Tiny Fairy and a TropicalFish may help us Model Mucopolysaccharidoses". Endocrine, Metabolic & Immune Disorders - Drug Targets 24 (2023): http://dx.doi.org/10.2174/0118715303277318231024055425.
    10.2174/0118715303277318231024055425
  3. Fonseca, Helena; Ribeiro, Diogo; Guimarães, Fabio; Pinto, Conceição; Marcão, Ana; Sousa, Carmen; Carvalho, Ivone; et al. "Pilot Study on Newborn Screening for Spinal Muscular Atrophy". Endocrine, Metabolic & Immune Disorders - Drug Targets 23 (2023): http://dx.doi.org/10.2174/1871530323666230914122955.
    10.2174/1871530323666230914122955
  4. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Ouesleti, Souad; Campos, Teresa; Santos, Helena; et al. "Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants". International Journal of Molecular Sciences 21 17 (2020): 6355. http://dx.doi.org/10.3390/ijms21176355.
    10.3390/ijms21176355
  5. Duarte, Ana Joana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, Olga. "Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation". Stem Cell Research 45 (2020): 101794. http://dx.doi.org/10.1016/j.scr.2020.101794.
    10.1016/j.scr.2020.101794
  6. Coutinho, Maria Francisca; Encarnação, Marisa; Matos, Liliana; Silva, Lisbeth; Ribeiro, Diogo; Santos, Juliana Inês; Prata, Maria João; Vilarinho, Laura; Alves, Sandra. "Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity". Diagnostics 10 2 (2020): 58. http://dx.doi.org/10.3390/diagnostics10020058.
    Published • 10.3390/diagnostics10020058
  7. Duarte, Ana Joana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, Olga. "Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene". (2019): http://hdl.handle.net/10400.1/13513.
    https://doi.org/10.1016/j.scr.2019.101595
  8. Duarte, Ana; Ribeiro, Diogo; Moreira, Luciana; Amaral, Olga. "In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses". International Journal of Molecular Sciences 19 11 (2018): 3409. http://dx.doi.org/10.3390/ijms19113409.
    10.3390/ijms19113409
  9. Matos, Liliana; Duarte, Ana; Ribeiro, Diogo; Chaves, João; Amaral, Olga; Alves, Sandra. "Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy". Genes 9 9 (2018): 455. http://dx.doi.org/10.3390/genes9090455.
    10.3390/genes9090455
  10. Duarte, Ana Joana; Ribeiro, Diogo; Oliveira, Pedro; Amaral, Olga. "Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?". Archives of Medical Research 48 3 (2017): 263-269. http://dx.doi.org/10.1016/j.arcmed.2017.04.001.
    10.1016/j.arcmed.2017.04.001
  11. Duarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, Olga. "Characterization of a rare Unverricht–Lundborg disease mutation". Molecular Genetics and Metabolism Reports 4 (2015): 68-71. http://dx.doi.org/10.1016/j.ymgmr.2015.07.005.
    10.1016/j.ymgmr.2015.07.005
  12. Duarte, Ana Joana; Ribeiro, Diogo; Amaral, Olga. "CHIT1 genetic defects in the Portuguese population". Blood Cells, Molecules, and Diseases 50 1 (2013): 50-52. http://dx.doi.org/10.1016/j.bcmd.2012.08.008.
    10.1016/j.bcmd.2012.08.008
  13. Ribeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luis; Amaral, Olga. "Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples". ISRN Molecular Biology 2013 (2013): 1-4. http://dx.doi.org/10.1155/2013/451298.
    10.1155/2013/451298
  14. Pinto, Eugénia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Lima, J. Lopes; Chaves, João; Amaral, Olga. "Unverricht–Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene". Epilepsy Research 99 1-2 (2012): 187-190. http://dx.doi.org/10.1016/j.eplepsyres.2011.11.004.
    10.1016/j.eplepsyres.2011.11.004
  15. Ribeiro, Diogo; Duarte, Ana Joana; Amaral, Olga. "Rapid and Cost-Effective Method for the Detection of the c.533G>A Mutation in the HEXA Gene". Genetic Testing and Molecular Biomarkers 15 3 (2011): 123-126. http://dx.doi.org/10.1089/gtmb.2010.0129.
    10.1089/gtmb.2010.0129
Newsletter article
  1. Ribeiro, Diogo; Equipas de resposta à emergência do diagnóstico laboratorial da COVID-19 no INSA. "O INSA e a resposta de emergência ao diagnóstico laboratorial da COVID-19 em Portugal", Boletim Epidemiológico Observações, 2020, http://hdl.handle.net/10400.18/7255.
  2. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra. "Development of a next generation sequencing assay for a prompt molecular diagnosis of lysosomal storage disorders.", Boletim Epidemiológico Observações. 2018 maio-agosto, 2018, http://hdl.handle.net/10400.18/5589.
  3. Encarnação, M.; Coutinho M.F.; Silva, L.; Matos, L.; Ribeiro, Diogo; Nogueira, C.; Gaspar, P.; Vilarinho, L.; Alves, S.. "Desenvolvimento de um ensaio de sequenciação de nova geração para acelerar o diagnóstico molecular das doenças lisossomais de sobrecarga", Boletim Epidemiológico Observações 2018, 2018, http://repositorio.insa.pt/bitstream/10400.18/5589/1/Boletim_Epidemiologico_Observacoes_N22_2018_artigo8.pdf.
Thesis / Dissertation
  1. Ribeiro, Diogo. "Estudo da mutação W402X : frequência desta variante da a-L-iduronidase lisossomal na população portuguesa e análise da sua função". Master, Universidade do Minho Escola de Medicina, 2012. http://repositorium.sdum.uminho.pt/bitstream/1822/24478/1/Diogo%20Alexandre%20do%20Nascimento%20Ribeiro.pdf.

Other

Other output
  1. Genética e cérebro na "fábrica de perguntas". Com esta atividade desenvolvida no âmbito da semana aberta do INSA pretendeu-se demonstrar como a Genética e o cérebro são os centros de controlo do quotidiano. Na parte prática desenvolveram-se atividades "mãos na massa" e "minds on" relacionadas com os temas.. 2013. Amaral, Olga; Alves, Sandra; Duarte, Ana; Ribeiro, Diogo; Rocha, Hugo; Coutinho, Francisca; Alves, Mariana; Moreira, Luciana; Matos, Liliana. http://hdl.handle.net/10400.18/1546.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/11/30 Rastreio Neonatal da Atrofia Muscular Espinhal: o inicio da era dos rastreios genéticos? Seminários InsaConvida
INSA (Porto, Portugal)
2023/10/11 Rastreio Neonatal da Atrofia Muscular Espinhal (AME) - Estudo Piloto Um dia com o Rastreio Neonatal
Unidade de Rastreio Neonatal Metabolismo e Genética, Departamento de Genética Humana do INSA (Porto, Portugal)
2023/10 Generating an iPSC model for Mucolipidosis II Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology
Al4AnimalS (Porto, Portugal)
2023/10 Using CRISPR/Cas9 knock-in to generate new models for Mucolipidosis type II: isogenic iPSCs and mutation-specific zebrafish Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology
AL4AnimalS (Porto, Portugal)
2023/09 Investigação básica e translacional: aprofundar o conhecimento fisiopatológico MPS 360 Event
(Porto, Portugal)
2023/05 How to establish Stem Cell Cultures from Dental Pulp: A Practical Guide 2ndMeeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4AnimalS)
(Porto, Portugal)
2023/05 How to establish stem cell cultures from the dental pulp: a practical guide 2th AL4AnimalS Meeting
(Vila Real, Portugal)
2023/04/12 Rastreio Neonatal da Atrofia Muscular Espinhal (AME) - Estudo Piloto Um dia com o Rastreio Neonatal
Unidade de Rastreio Neonatal Metabolismo e Genética, Departamento de Genética Humana do INSA (Porto, Portugal)
2023/03 Help comes from unexpected places: How a tiny fairy and a tropical fish may help us model mucopolysccharidoses 19th International Symposium of the Portuguese Society for Metabolic Disorders
(Figueira da Foz, Portugal)
2023/03 The tooth fairy that's SHEDing hope for Rare Lysosomal Disorders VI Jornadas do CECA
(Porto, Portugal)
2023/03 Disease modeling for Mucopolysaccharidoses: a key step towards understanding and treating these rare genetic disorders Seminário Científico da UMIB
(Porto, Portugal)
2023/01 A Fada dos dentes 2020 ou Como os Dentes de leite nos podem ajudar a compreender o fenótipo neurológico das Doenças Lisossomais de Sobrecarga Sessão de Investigação CHULN
(Lisboa, Portugal)
2022/11/11 Modelling genetic disorders with an unexpected co-worker: the Tooth Fairy that gifts hope to both children and scientists CIISA Congress 2022 - “Innovation in Animal, Veterinary and Biomedical Research"
CIISA (Lisboa, Portugal)
2022/09/07 Haplotypic and MicroRNA Profiling in Niemann-Pick type C Portuguese Patients 24th ESGLD Workshop and graduate course
ESGLD (Lancaster, United Kingdom)
2022/07/22 From fibroblasts to cardiomyocytes and beyond 2nd Workshop on Sphingolipids in Health and Disease
Universidade de Aveiro (Aveiro, Portugal)
2022/06/27 The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, an innovative method for in vitro genetic disease modeling of a rare neurological disorder III International Meeting of the Portuguese Society of Genetics
Portuguese Society of Genetics (Évora, Portugal)
2021/11/03 RNA como alvo terapêutico: Desenvolvimento de abordagens inovadoras utilizando oligonucleótidos sintéticos V Jornadas do CECA
(Porto, Portugal)
2021/11/03 Intracellular trafficking deficiency of cholesterol and genetic signature: lessons from a rare neurodegenerative disorder V Jornadas do CECA
(Porto, Portugal)
2021/10/02 Uma fada minúscula e um peixe tropical: heróis improváveis na luta contra uma doença rara V Jornadas do CECA
(Porto, Portugal)
2021/09/25 Apresentação do Projeto “A Fada dos Dentes 2020”, um método para estabelecer linhas celulares neuronais a partir de dentes de leite de doentes com Mucopolissacaridoses MPS 360 Event
(Porto, Portugal)
2021/02/28 Doença de Tay-Sachs variante B1: Da identificação da doença à investigação e ao doente Dia Internacional da Doenças Raras 2021
Instituto Nacional de Saúde Doutor Ricardo Jorge (Porto, Portugal)
2020/02/22 Novel tools in cell and molecular biology: induced pluripotent stem cells in the field of lysosomal storage disorders XII Jornadas de Genética e Biotecnologia/II Jornadas Ibéricas de Genética e Biotecnologia
Núcleo de Estudantes de Genética e Biotecnologia (UTAD) (Vila Real, Portugal)
2019/11/20 The key to open the neuronal box of Tay Sachs disease variant B1: cellular models Seminários DGH 2019
INSA (Porto, Portugal)
2014/03 Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with a homozygous mutation in the cystatin B gene. 10th SPDM International Symposium
Desviat, L.R., Pérez, B., Amaral, O., Alves, S. (Cascais, Portugal)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2020 - Current Young Reseachers Seminars (INSA CONVIDA) (2020)
Seminar (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2022/11/08 - 2022/11/08 3º Dia do Jovem Investigador do INSA (2022/11/08 - 2022/11/08)
Meeting (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal