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Luciana Maria Vaz Moreira is a biochemist from FCUP, completed a Master in Medicine and Molecular Oncology in 2008 at FMUP, and her PhD in Biomedical Sciences in 2015 at ICBAS-UP. Since October 2021 she is a junior researcher at the group of Inherited Metabolic Disesses (IMD) in Human&Animals: Mechanism and Therapies from CECA/ICETA, that now integrates the new associate laboratory AL4animals. Its thematic line encompasses the biochemical and molecular basis of IMD (both in humans and animals), and the development of innovative nucleic acid-based therapies and the indispensable generation of cell and animal models for these diseases. In the 2022 call for R&D Projects in All Scientific Domains from FCT, her project as PI was approved and is ongoing since March 2023, titled "ModellingMLII - 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). In her PhD she studied the cytotoxicity of oligomeric aggregates of TTR in the kidney and their role in the inhibition of erythropoietin and genesis of anemia in Familial Amyloid Polineuropathy. From 2015-18 she was a postdoctoral fellow at the Icahn School of Medicine at Mount Sinai (New York), where worked in the field of rare IMD - Fabry and Porphyria - and contributed to a pilot study of a gene editing therapy with zinc finger nucleases in a mouse model of Fabry; and to generation/characterization of an inducible hepatocyte-specific ALAS1 knockout mouse model to study heme biosynthesis in Acute Intermittent Porphyria. In 2018-19 she was a research fellow at INSA where she worked on a FCT-funded project to generate iPSC models of two lysosomal storage diseases (LSD) - Fabry and Gaucher - as well as gene editing by CRISPR/Cas. From 2019-21, she was a postdoctoral researcher at ISPUP, where she worked on two FCT-funded projects, developing toxicological risk assessment studies (cytotoxicity/genotoxicity) of metal-based nanoparticles in biological barriers and biocompatibility assessment of Mg alloys for biomedical applications. Overall, she has solid skills in biochemistry, molecular and cell biology, cytotoxicity/genotoxicity assessment, gene editing and generation/characterization of in vitro and in vivo disease models particularly for IMD. She published 26 peer-reviewed articles in international indexed journals, and 7 articles in conference proceedings; participated in conferences with oral and poster presentations, was invited for lectures; and contributed for mentoring students.
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Identification

Personal identification

Full name
Luciana Maria Vaz Moreira

Citation names

  • Moreira, L
  • Moreira LM
  • Moreira LV

Author identifiers

Ciência ID
F81D-105A-1500
ORCID iD
0000-0001-5369-5422
Researcher Id
AAD-8155-2020

Email addresses

  • luciana.moreira@insa.min-saude.pt (Professional)

Telephones

Telephone
  • (+351) 223401100 (Professional)

Addresses

  • Rua Alexandre Herculano 321, 4000-055, Porto, Porto, Portugal (Professional)

Websites

  • https://orcid.org/0000-0001-5369-5422 (Professional)

Knowledge fields

  • Medical and Health Sciences - Health Sciences - Public and Environmental Health
  • Medical and Health Sciences - Health Sciences
  • Medical and Health Sciences - Medical Biotechnology - Gene-based Diagnostics and Therapeutic Interventions
  • Medical and Health Sciences - Medical Biotechnology - Technologies Involving the Manipulation of Cells, Tissues, Organs or the Whole Organism
  • Medical and Health Sciences - Medical Biotechnology - Technologies Involving the Manipulation of Cells, Tissues, Organs or the Whole Organism

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Intermediate (B1) Advanced (C1)
Italian Advanced (C1) Advanced (C1) Intermediate (B1) Advanced (C1)
Spanish; Castilian Beginner (A1) Beginner (A1) Beginner (A1) Beginner (A1)
Education
Degree Classification
2015/07/27
Concluded
 Ciências Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Dissecting the role of amyloid fibril deposition in the kidney in familial amyloidotic polyneuropathy. " (THESIS/DISSERTATION)
 Aprovado com Distinção
2008/07/14
Concluded
 Medicina e Oncologia Molecular (Mestrado)
Universidade do Porto Faculdade de Medicina, Portugal
"Eritropoietina: Produção renal, anemia e cancro" (THESIS/DISSERTATION)
 Muito Bom
2003/09/24
Concluded
 Bioquímica (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Isolation and Purification of recombinant Enolase and NAD+ Synthetase from Streptococcus sobrinus and their applicability in the Therapy of the Inflammatory Diseases Rheumatoid Arthritis and Colitis" (THESIS/DISSERTATION)
 14
Affiliation

Science

Category
Host institution 		Employer
2021/10/15 - 2024/12/31 Contracted Researcher (Research) Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2019/02/18 - 2021/09/15 Contracted Researcher (Research) Universidade do Porto Instituto de Saúde Pública, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2018/05/02 - 2019/02/15 Researcher (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2015/10/01 - 2018/04/27 Postdoc (Research) Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences, United States
2009/12/30 - 2015/07/27 Researcher (Research) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2004/01/01 - 2008/03/01 Researcher (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2002/10/01 - 2003/09/01 Research Trainee (Research) Universidade do Porto Faculdade de Ciências, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Others

Category
Host institution 		Employer
2005/01/01 - 2018/02/01 Participant researcher in the project of a doctoral student (Isabel Tavares) - Screening for Familial Amyloid Nephropathies Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2011/07/01 - 2014/12/01 Participant researcher in the project of a doctoral student, in Oculopathy in Familial Amyloidotic Polineuropathy. Design and perform experiments, analyze data, write and revise manuscripts. Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2006/01/01 - 2008/07/14 Master Student in Medicine and Molecular Oncology. R&D in Erythropoietin and Anemia in Familial Amyloidotic Polyneuropathy Universidade do Porto Faculdade de Medicina, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2008/03/01 - 2008/06/01 Short term internship in a research laboratory of Renal Physiology Charité Universitätsmedizin Berlin Zentrum für Anatomie, Germany
Projects

Grant

Designation Funders
2018/05/02 - 2019/02/15 Cellular models for the study of lysosomal dysfunction and correction mechanisms (PTDC/BIM-MEC/4762/2014)
PTDC/BIM-MEC/4762/2014
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2009 - 2015/07/27 Dissecting the role of amyloid fibril deposition in the kidney in familial amyloidotic polyneuropathy.
SFRH/BD/46441/2008
PhD Student Fellow
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2004/01/01 - 2008/01/01 Renal Production of Erythropoietin and its Importance in the Genesis of Anemia in Familial Amyloidotic Polyneuropathy
Bolsa Ricardo Jorge
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
 Instituto Nacional de Saúde Doutor Ricardo Jorge IP
Concluded

Contract

Designation Funders
2023/03/01 - 2025/02/28 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
Principal investigator
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
2023/03/01 - 2025/02/28 Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents
2022.04667.PTDC
10.54499/2022.04667.PTDC
Researcher
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
2021/10/15 - 2024/12/31 Center for the Study of Animal Science
UIDB/00211/2020
Researcher
Ongoing
2023/05/01 - 2024/04/30 Addressing a challenging enzyme in vitro: proof of principle on the therapeutic potential of an antisense oligonucleotide approach for ML II
AL4A-PROJ-LT3.5
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
 Al4animalS - Associate Laboratory for Animal Science and Veterinary
Ongoing
2022/01/02 - 2023/06/30 RNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases
EXPL/BTM-TEC/1477/2021
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2022/01/01 - 2023/06/30 Neurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
EXPL/BTM-SAL/0659/2021
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2019/02/18 - 2021/09/15 NanoBioBarriers - Estudos dos mecanismos subjacentes aos efeitos das nanopartículas metálicas nas barreiras biológicas - contribuição para a implementação do conceito "safe-by design". (PTDC/MED-TOX/31162/2017-POCI-01-0145-FEDER-031162)
PTDC/MED-TOX/31162/2017 - POCI-01-0145-FEDER-031162
Researcher
Universidade do Porto Instituto de Saúde Pública, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
Ongoing
2015/10/19 - 2018/04/27 Molecular genetics research in the field of Porphyria and Fabry Disease
NIH
Post-doc Fellow
Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences, United States
Outputs

Publications

Conference abstract
  1. Leal, B; Rangel, R; Carvalho, C; Moreira, L; Chaves, J; Silva, AM; Lima, JL; et al. "Inflammation in human mesial temporal lobe epilepsy with hippocampal sclerosis: a preliminary evaluation". 2010.
Conference paper
  1. Duarte, Ana; Moreira, Luciana; Ribeiro, Diogo; Bragança, José; Amaral, Olga. "Upstream of precise disease models for better downstream decision making". 2018.
  2. Moreira, Luciana; Beirão JM; Beirão, Idalina; Costa, Paulo Pinho. "Is decreased erythropoietin production mediated by cytotoxic oligomeric transthyretin V30M aggregates?". Paper presented in The XIVth International Symposium on Amyloidosis - Amyloid: Insoluble, but Solvable, Indianapolis, 2014.
  3. Tavares, Isabel; Nunes, AT; Moreira, Luciana; Pereira, PR; Vizcaíno, R; Costa, PP; Lobato, L. "Tavares I, Nunes AT, Moreira L, Pereira PR, Vizcaíno R, Costa PP, Lobato L. Renal amyloidosis in Northern Portugal: Apart from ATTR, AA still dominates.". Paper presented in Proceedings: The XIVth International Symposium on Amyloidosis - “Amyloid: Insoluble, but Solvable”, April 27 – May 1, 2014, Indianapolis, Indiana, USA; 40-44., Indianapolis, 2014.
    10.31692/2358-9728.vicointerpdvl.2019.0094
  4. Moreira, Luciana; Ballerini, Lara; Peired, Anna; Sagrinati, Constanza; Parente, Eliana; Angelotti, Maria Lucia; Ronconi, Elisa; et al. "TTRV30M oligomeric aggregates inhibit proliferation of renal progenitor cells but maintain their capacity to differentiate into podocytes in vitro.". Paper presented in XIIIth International Symposium on Amyloidosis, Groningen, 2012.
    10.5220/0007315600530058
  5. Tavares, Isabel; Moreira, Luciana; Pinheiro, J; Rocha, MJ; Carvalho, E; Costa, PP; Lobato, L. "Fibrinogen amyloidosis: report of the portuguese cluster.". 2008.
  6. Tavares, Isabel; Moreira, Luciana; Pinheiro, J; Rocha, MJ; Carvalho, E; Costa, PP; Lobato, L. "Amiloidose renal por fibrinogénio – o foco português.". 2008.
  7. Moreira, Luciana; Lobato, L; Tavares, Isabel; Matos, C; Carvalho, E; Pinheiro, J; Costa, PP. "Fibrinogen A alpha-chain Glu526V amyloidosis in seven Portuguese families.". 2006.
Conference poster
  1. Carvalho, Sofia; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al. "The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders". Paper presented in 2ndMeeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4AnimalS), 2023.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Moreira, L; Santos, Juliana Inês; Gonçalves, Mariana; Carvalho, Sofia; Encarnação, Marisa; Matos, Liliana; Maria Francisca Coutinho; Alves, Sandra. ""Urine Stem Cells as a potential in vitro model for Mucolipidosis type II"". Paper presented in III International Meeting of the Portuguese Society of Genetics, 2022.
  7. Moreira, L; Maria Francisca Coutinho; Carvalho, Sofia; Duarte, Ana Joana; Ribeiro, Diogo; Santos, Juliana Inês; Gonçalves, Mariana; et al. Corresponding author: Moreira, L. "Pluripotent cells and zebrafish: two complementary platforms for modelling Lysosomal Storage Disorders". Paper presented in CIISA Congress 2022, 2022.
Journal article
  1. Maria Eduarda Moutinho; Mariana Mendes Gonçalves; Ana Duarte; Marisa Encarnação; Maria Francisca Coutinho; Liliana Matos; Juliana Inês Santos; et al. "Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease". International Journal of Molecular Sciences (2025): http://dx.doi.org/10.3390/ijms26083871.
    10.3390/ijms26083871
  2. Santos, Juliana Inês; Gonçalves, Mariana; Almeida, Matilde Barbosa; Rocha, Hugo; Duarte, Ana Joana; Matos, Liliana; Moreira, Luciana Vaz; et al. "mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis". International Journal of Molecular Sciences 26 3 (2025): 1273. https://doi.org/10.3390/ijms26031273.
    Published • 10.3390/ijms26031273
  3. David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura; Cardoso, Maria Teresa; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; et al. "Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann–Pick Type C Disease". International Journal of Molecular Sciences 25 22 (2024): 12186. https://doi.org/10.3390/ijms252212186.
    Published • 10.3390/ijms252212186
  4. Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnação, Marisa; 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 25 6 (2024): 3546. https://doi.org/10.3390/ijms25063546.
    Published • 10.3390/ijms25063546
  5. Encarnação, Marisa; David, Hugo; Coutinho, Maria Francisca; Moreira, Luciana; Alves, Sandra. "MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C". Biomedicines 11 10 (2023): 2615. http://dx.doi.org/10.3390/biomedicines11102615.
    Open access • Published • 10.3390/biomedicines11102615
  6. Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, Sandra; Coutinho, Maria Francisca. "Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses". Biomedicines 11 4 (2023): 1234. http://dx.doi.org/10.3390/biomedicines11041234.
    Open access • Published • 10.3390/biomedicines11041234
  7. Bessa, Maria João; Brandão, Fátima; Rosário, Fernanda; Moreira, Luciana; Reis, Ana Teresa; Valdiglesias, Vanessa; Laffon, Blanca; Fraga, Sónia; Teixeira, João Paulo. "Assessing the in vitro toxicity of airborne (nano)particles to the human respiratory system: from basic to advanced models". Journal of Toxicology and Environmental Health, Part B 26 2 (2023): 67-96. http://dx.doi.org/10.1080/10937404.2023.2166638.
    Open access • Published • 10.1080/10937404.2023.2166638
  8. Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria João; Coutinho, Maria Francisca; Alves, Sandra. "Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example". Life 12 5 (2022): 608. http://dx.doi.org/10.3390/life12050608.
    Open access • Published • 10.3390/life12050608
  9. Pagant, Silvere; Huston, Marshall W.; Moreira, Luciana; Gan, Lin; St Martin, Susan; Sproul, Scott; Holmes, Michael C.; et al. "ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic a-Gal A activity and effective substrate reduction in Fabry mice". Molecular Therapy 29 11 (2021): 3230-3242. http://dx.doi.org/10.1016/j.ymthe.2021.03.018.
    Published • 10.1016/j.ymthe.2021.03.018
  10. Neves, C.S.; Sousa, I.; Freitas, M.A.; Moreira, L.; Costa, C.; Teixeira, J.P.; Fraga, S.; et al. "Insights into corrosion behaviour of uncoated Mg alloys for biomedical applications in different aqueous media". Journal of Materials Research and Technology 13 (2021): 1908-1922. http://dx.doi.org/10.1016/j.jmrt.2021.05.090.
    Published • 10.1016/j.jmrt.2021.05.090
  11. Moreira, Luciana; Costa, Carla; Pires, Joana; Teixeira, João Paulo; Fraga, Sónia. "How can exposure to engineered nanomaterials influence our epigenetic code? A review of the mechanisms and molecular targets". Mutation Research/Reviews in Mutation Research 788 (2021): 108385. http://dx.doi.org/10.1016/j.mrrev.2021.108385.
    Published • 10.1016/j.mrrev.2021.108385
  12. Duarte, Ana Joana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, Olga; Duarte, A.J.; et al. "Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation". Stem Cell Res 45 (2020): 101794. http://www.scopus.com/inward/record.url?eid=2-s2.0-85085084820&partnerID=MN8TOARS.
    Published • 10.1016/j.scr.2020.101794
  13. 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". Stem Cell Research 41 (2019): 101595. http://dx.doi.org/10.1016/j.scr.2019.101595.
    10.1016/j.scr.2019.101595
  14. Tavares, Isabel; Silvano, José; Moreira, Luciana; Oliveira, Márcia E.; Silva, Roberto; Sampaio, Susana; Costa, Paulo Pinho; Lobato, Luísa. "Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis". Amyloid 26 sup1 (2019): 162-163. http://dx.doi.org/10.1080/13506129.2019.1583196.
    Published • 10.1080/13506129.2019.1583196
  15. Tavares, Isabel; Oliveira, Márcia E.; Maia, Nuno; Moreira, Luciana; Castro Lacerda, Pedro; Santos, Josefina; Santos, Rosário; Pinho Costa, Paulo; Lobato, Luísa. "Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant". Amyloid 26 sup1 (2019): 144-145. http://dx.doi.org/10.1080/13506129.2019.1582500.
    10.1080/13506129.2019.1582500
  16. Moreira, Luciana; Duarte, Ana Joana; Ribeiro, Diogo; Amaral, Olga. "CRISPR/Cas in iPSCs from sphingolipidoses patients". Molecular Genetics and Metabolism 126 2 (2019): S101-S102. http://dx.doi.org/10.1016/j.ymgme.2018.12.255.
    Published • 10.1016/j.ymgme.2018.12.255
  17. Ana Joana Duarte; Diogo Ribeiro; Luciana Maria Vaz Moreira; Olga Amaral. "In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses". International Journal of Molecular Sciences (2018): http://www.mdpi.com/1422-0067/19/11/3409.
    10.3390/ijms19113409
  18. Tavares, Isabel; Oliveira, João Paulo; Pinho, Ana; Moreira, Luciana; Rocha, Liliana; Santos, Josefina; Pinheiro, Joaquim; Costa, Paulo Pinho; Lobato, Luísa. "Unrecognized Fibrinogen A a-Chain Amyloidosis: Results From Targeted Genetic Testing". American Journal of Kidney Diseases 70 2 (2017): 235-243. http://dx.doi.org/10.1053/j.ajkd.2017.01.048.
    10.1053/j.ajkd.2017.01.048
  19. Tavares, Isabel; Moreira, Luciana; Costa, Paulo Pinho; Lobato, Luísa. "Fibrinogen A alpha-chain amyloidosis: a non-negligible cause of chronic kidney disease in dialysis patients". Amyloid 24 sup1 (2017): 153-154. http://dx.doi.org/10.1080/13506129.2017.1281119.
    10.1080/13506129.2017.1281119
  20. Lacerda PC; Moreira L; Vitorino R; Costa PP. "Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor: A Case Report.". (2015): http://europepmc.org/abstract/med/25943235.
    10.1097/tp.0000000000000658
  21. Moreira, Luciana; Beirão, João Melo; Beirão, Idalina; Costa, Paulo Pinho e. "Oligomeric TTR V30M aggregates compromise cell viability, erythropoietin gene expression and promoter activity in the human hepatoma cell line Hep3B". Amyloid 22 2 (2015): 93-99. http://dx.doi.org/10.3109/13506129.2015.1007497.
    Published • 10.3109/13506129.2015.1007497
  22. Beirão, J.M.; Moreira, L.M.; Oliveira, J.C.; Menéres, M.J.; Pessoa, B.B.; Matos, M.E.; Costa, P.P.; et al. "Aqueous humor erythropoietin levels in open-angle glaucoma patients with and without TTR V30M familial amyloid polyneuropathy". Molecular Vision 20 (2014): 970-976. http://www.scopus.com/inward/record.url?eid=2-s2.0-84903885179&partnerID=MN8TOARS.
  23. Beirão, J.M.; Moreira, L.V.; Lacerda, P.C.; Vitorino, R.P.; Beirão, I.B.; Torres, P.A.; Costa, P.P.; et al. "Inability of mutant transthyretin V30M to cross the blood-eye barrier". Transplantation 94 8 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84868139951&partnerID=MN8TOARS.
    10.1097/TP.0b013e318269e6d1
  24. Tavares, I.; Lobato, L.; Moreira, L.; Santos, J.; Lacerda, P.; Pinheiro, J.; Costa, P.; et al. "Long-term follow-up of patients with hereditary fibrinogen A alpha-chain amyloidosis.". Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 18 Suppl 1 SUPPL. 1 (2011): 216-217. http://www.scopus.com/inward/record.url?eid=2-s2.0-82255165417&partnerID=MN8TOARS.
    10.3109/13506129.2011.627069
  25. Beirão, I.; Moreira, L.; Barandela, T.; Lobato, L.; Silva, P.; Gouveia, C.M.; Carneiro, F.; et al. "Erythropoietin production by distal nephron in normal and familial amyloidotic adult human kidneys". Clinical Nephrology 74 5 (2010): 327-335. http://www.scopus.com/inward/record.url?eid=2-s2.0-78649902510&partnerID=MN8TOARS.
    10.5414/cnp74327
  26. Beirão I; Lobato L; Moreira L; Mp Costa P; Fonseca I; Cabrita A; Porto G. "Long-term treatment of anemia with recombinant human erythropoietin in familial amyloidosis TTR V30M.". (2008): http://europepmc.org/abstract/med/18925459.
    10.1080/13506120802195840
  27. Beirão I; Moreira L; Porto G; Lobato L; Fonseca I; Cabrita A; Costa PM. "Low erythropoietin production in familial amyloidosis TTR V30M is not related with renal congophilic amyloid deposition. A clinicopathologic study of twelve cases.". (2008): http://europepmc.org/abstract/med/18596378.
    10.1159/000142527
  28. Beirão I; Almeida S; Swinkels D; Costa PM; Moreira L; Fonseca I; Freitas C; Cabrita A; Porto G. "Low serum levels of prohepcidin, but not hepcidin-25, are related to anemia in familial amyloidosis TTR V30M.". (2008): http://europepmc.org/abstract/med/18544472.
    10.1016/j.bcmd.2008.04.008
Newsletter article
  1. Lacerda, Pedro Castro; Moreira, Luciana; Vitorino, Rui; Costa, Paulo Pinho. "A paramiloidose em Portugal: reflexão sobre o paradigma da transplantação hepática motivada por um caso clínico", A Polineuropatia Amiloidótica Familiar de tipo português (PAF) ou ATTR V30M é uma doença hereditária cuja prevalência em Portugal é elevada, sendo diagnosticados cerca de 60 novos casos todos os anos. Uma doente com PAF submeteu-se a um segundo transplante hepático de um dador cadavérico depois de se ter constatado que o primeiro dador era portador de TTR V30M. Com este artigo breve pretende-se re, 2016, http://hdl.handle.net/10400.18/3793.
Thesis / Dissertation
  1. "Dissecting the role of amyloid fibril deposition in the kidney in familial amyloidotic polyneuropathy". PhD, Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, 2015.
  2. Moreira, Lúciana Maria Vaz. "Eritropoietina:produção renal, anemia e cancro". Master, 2011. http://hdl.handle.net/10216/21977.

Other

Other output
  1. Renal amyloidosis: classification of 102 consecutive cases. Amyloidoses are a group of heterogeneous diseases classified according to the nature of their causative amyloid proteins. Commonly, paraffin-embedded tissue is used for the typing of amyloid by immunohistochemistry. DNA analysis should always be considered if hereditary amyloidosis is suspected. Since the kidneys are one of the organs that are most commonly involved in amyloid deposition in system. 2014. Tavares,Isabel; Vaz,Raquel; Moreira,Luciana; Pereira,Pedro Rodrigues; Sampaio,Susana; Vizcaino,J. Ramon; Oliveira,Joao Paulo; Costa,Paulo Pinho; Lobato,Luisa. http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000300003.
  2. 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)
2024/05/09 Using CRISPR/Cas9 to “correct” patient-derived induced pluripotent stem cells: a story of novelty and challenges in the context of a rare genetic disorder. Maria Eduarda Moutinho; Ana Joana Duarte; Mariana Gonçalves; Liliana Matos; Maria Francisca Coutinho; Olga Amaral; Sandra Alves; Luciana Moreira. IJUP 2024
2024/03/08 Desenvolvimento de novos modelos de Doenças Raras: células estaminais e peixes-zebra geneticamente modificados. Moreira L. Seminários: Partilhar Saber no CSPGF
Instituto Nacional de Saúde Dr. Ricardo Jorge (Porto, Portugal)
2023/10/21 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. Porto, 20-21th October 2023
(Porto, Portugal)
2023/10/21 A Practical Guide on how to generate F0 Crispant Zebrafish: from the sketch to the tank. Moreira L, Carvalho S, Santos JI, Gaspar P5, Rocha H, Neuparth T, Soares J, Ribeiro M, Ribeiro Pinho B, Oliveira N, Ascenção Oliveira J, Santos M, Alves S, Coutinho MF. Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology. Porto, 20-21th October 2023
(Porto, Portugal)
2023/10/20 Generating an iPSC model for Mucolipidosis II Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology. Porto, 20-21th October 2023
(Porto, Portugal)
2023/09/20 Modelling Lysosomal Storage Disorders using iPSCs and gene-edited zebrafish Seminários DGH
Instituto Nacional de Saúde Dr. Ricardo Jorge (Portugal)
2023/05/25 iPSCs and zebrafish for modeling Lysosomal Storage Disorders Online Seminar of Darter COST Action
2023/05/12 Generating gene-edited models for Lysosomal Storage Disorders 2nd Meeting of the Associate Laboratoty for Animal and Veterinary Sciences (AL4Animals)
Universidade de Trás-os-Montes e Alto Douro, Vila Real (Vila Real, Portugal)
2023/03/31 Gene-edited zebrafish: a promising animal model for Lysosomal Storage Disorders (LSDs) and beyond VI CECA Meeting, Casa de Vilar Porto Hotel
(Porto, Portugal)
2023/03/31 Gene editing on iPS cells: the first steps. Duarte AJ, Moreira L, Bragança J, Amaral O. VI CECA Meeting, Casa de Vilar Porto Hotel
2023/03/30 Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses 19th International Symposium of the Portuguese Society for Metabolic Disorders
(Figueira da Foz, Portugal)
2023/02/24 CRISPR-Cas9 in zebrafish for generation of a knock-out model for MPS III (Sanfilippo Syndrome) Delivery of Antisense RNA Therapies (DARTER) Final Meeting, Bizkaia Aretoa, Bilbao, Spain
(Bilbao, Spain)
2022/10/14 Development of in vitro and in vivo models for the Lysosomal Storage Disorders Mucopolysaccharidosis and Mucolipidosis Wilson Lab Meeting, Zebrafish UCL; Anatomy Building of UCL; London, UK
UCL, London (London, United Kingdom)
2022/02/10 Multiparametric In Vitro Toxicity Assessment of Consumer-relevant Nanomaterials in a Human Placental Model Sociedade Portuguesa de Farmacologia 2022 (SPF 2022)
(Portugal)
2021/09/24 How can exposure to engineered nanomaterials influence our epigenetic code? Seminar of the R&D Unit in Occupational and Environmental Health
National Institute of Health Dr. Ricardo Jorge (Portugal)
2021/05/05 Comparative assessment of the acute toxicity of commonly used metal nanoparticles in two in vitro models of human barriers IJUP 2021 - 14th Meeting of Young Investigators at University of Porto
(Porto, Portugal)
2018/10/29 CRISPR-Cas Editing: Basics, Applications and Issues À VOLTA DA INVESTIGAÇÃO - NO ÂMBITO DO PROJETO PTDC/BIM-MEC/4762/2014 - CEMOLY- CELL MODELS FOR LYSOSOMAL DISORDERS
Olga Amaral - Instituto Nacional de Saúde Dr. Ricardo Jorge (Porto, Portugal)
2018/01/14 Generation and Characterization of a Tamoxifen-inducible liver-specific Alas1 knockout mouse model. Heme Biosynthesis and the Porphyrias: Recent Advances
(Orlando, Florida, United States)
2015/06/17 Dissecting the role of amyloid fibril deposition in the kidney in Familial Amyloidotic Polyneuropathy. DGH Seminars
(Porto, Portugal)
2013/10/08 Amiloidoses transtirretínicas (ATTR): o papel dos agregados oligoméricos de TTR nas manifestações renais da PAF. Dia do DGH 2013
(Porto, Portugal)
2008/09 Clinical and pathological features of fibrinogen amyloidosis: an open question. VII International Symposium on Familial Amyloid Polineuropathy and Ist International Workshop on Hereditary Amyloidosis
(London, United Kingdom)
2008/05 Fibrinogen amyloidosis: report of the portuguese cluster. XIV Congress ERA-EDTA
(Stockholm, Sweden)
2008/05 Amiloidose renal por fibrinogénio – o foco português. Encontro Renal 2008
(Vilamoura, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2023/07/15 - 2024/11/11 Modelling Mucolipidosis type II with CRISPR/Cas9: gene editing takes iPSCs and zebrafish disease modelling a step forward
Supervisor
 Biologia Celular e Molecular (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2024/03/01 - 2024/07/23 Study of the expression pattern of two genes related to lysosomal storage diseases in different stages of zebrafish development
Supervisor
 Genética e Biotecnologia (Degree)
Universidade de Trás-os-Montes e Alto Douro, Portugal
2016/01 - 2016/06 Molecular genetics research in Fabry disease
Co-supervisor
Icahn School of Medicine at Mount Sinai, United States
2011 - 2012 Desenvolvimento de um modelo de cultura celular para avaliar o efeito dos agregados amiloidogénicos na produção de eritropoietina
Co-supervisor
 Bioquímica (Degree)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010 - 2011 Optimization of expression and purification of recombinant human TTR V30M, an amyloidogenic protein
Co-supervisor
 Bioquímica (Degree)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2023/11/21 - 2023/11/21 Ciência Viva - Semana da Ciência e da Tecnologia 2023 - "INOVAÇÃO NO ESTUDO DE DOENÇAS LISOSSOMAIS DE SOBRECARGA: NOVOS MODELOS, NOVAS TERAPIAS E NOVOS BIOMARCADORES" (2023/11/21 - 2023/11/21)
Conference (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
2022/11/16 - 2022/11/16 Study visit for 12th grade students from the Scientific-technological course, from Escola Secundária de Estarreja, to the Genetics Department of INSA Ricardo Jorge. The ongoing projects, namely the FCT-funded ones, were presented. (2022/11/16 - 2022/11/16)
Conference (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
2020/05/06 - 2020/05/08 European Environmental Mutagenesis and Genomics Society Annual Meeting. Exposure and Susceptibility: Bridging Gaps to Improve Health (2020/05/06)
Conference (Member of the Organising Committee)
2018/10/29 - 2018/10/29 Scientific meeting À VOLTA DA INVESTIGAÇÃO - a morning around research on genetic diseases, under the project PTDC / BIM-MEC / 4762/2014 - CEMOLY- CEll MOdels for LYsosomal disorders. iT TOOK PLACE at Atmosfera M, with the support of the Foundation for Science and Technology (FCT) through the project PTDC / BIM-MEC / 4762/2014. (2018/10/29 - 2018/10/29)
Seminar
 Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2012 - 2012 Semana Aberta 2012 (2012 - 2012)
Workshop (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2010 - 2010 Semana Aberta 2010 (2010 - 2010)
Workshop (Other)
 Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2019/01/18 - Current UNIVERSIDADE JUNIOR - Scientific dissemination for high school students. Students make visits to our laboratory, to deepen their skills in the field of genetics, namely technologies of recombinant DNA, used in a real work context.
Workshop
 Universidade Júnior
Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2024/05/06 - 2024/05/17 Obtained FELASA (Fuctions A, B and D) Certificate - Laboratory Animal Science Course
Other
 FELASA Accredited Course of Laboratory Animal Science
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019/07/17 - 2019/07/17 Universidade Júnior
Other
Universidade do Porto Instituto de Saúde Pública, Portugal
2019/02/11 - 2019/02/25 Course on Clinical Proteomics. Curricular Unit of Laboratory Research Methodologies of the Doctoral Program in Medicine, FCM-UNL 2018-2019. Module coordinators: Deborah Penque, Paula Videira
Other
 Course on Clinical Proteomics.
Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2018/09/16 - 2018/09/21 Genome Engineering: CRISPR/Cas. Hands-on training in genome editing and cell engineering in mammalian cells using the highly efficient CRISPR/Cas9 system.
Other
 Course on Genome Engineering: CRISPR/Cas
EMBL Heidelberg Genome Biology, Germany
2016/03 - 2016/03 Animal Care and Use Course certified by the American Association of Laboratory Animal Sciences (AALAS)
Other
 Animal Care and Use Course
Icahn School of Medicine at Mount Sinai, United States
2012/06/04 - 2012/06/08 Proteomics workshop and hands-on course: training course in proteomics applied to life sciences and health.
Other
 Proteomics workshop and hands-on course
Universidade de Aveiro Centro de Espectrometria de Massa, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2024/11/11 Modelling Mucolipidosis Type II with CRISPR/Cas9: gene editing takes iPSCs and zebrafish disease modelling a step forward
Supervisor
 Maria Eduarda Peixoto Teixeira Moutinho (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2024/07/23 Study of the expression pattern of two genes related to lysosomal storage diseases in different stages of zebrafish development
Supervisor
 José António Couto dos Santos (Other)
Universidade de Trás-os-Montes e Alto Douro, Portugal
2023/07/26 Unveiling Psoriasis Biomarkers: the role of inflammation-associated microRNAs
(Thesis) Main arguer
 Guilherme Machado Torres (Other)
Universidade do Porto Faculdade de Ciências, Portugal
2022/03/25 Estudos de validação in vivo de abordagens terapêuticas de RNA para Doenças Lisossomais de Sobrecarga
(Thesis) Main arguer
 Mariana Mendes Gonçalves (Master)
Universidade de Trás-os-Montes e Alto Douro, Portugal
2021/07/21 O papel da IL-10 no desenvolvimento de Epilepsia do lobo temporal mesial
(Thesis) Main arguer
 Rita Mafalda Araújo Pereira (Other)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2024/12/10 - 2024/12/10 Lecture on the "Use of zebrafish as a biological model for the study of lysosomal storage diseases" for the curricular unit Biological Models of the Master's Degree in Applications in Biotechnology and Synthetic Biology. Aplicações em Biotecnologia e Biologia Sintética (Mestrado integrado) Universidade do Porto Faculdade de Ciências, Portugal
2023/12/05 - 2023/12/05 "Basics of microinjection in zebrafish"; For the curricular unit/discipline of Biological Models Aplicações em Biotecnologia e Biologia Sintética (Mestrado) Universidade do Porto Faculdade de Ciências, Portugal
2019/11/12 - 2019/11/12 Nanomateriais manufaturados e os seus efeitos na Saúde Humana Curso de Especialização em Saúde Pública Universidade do Porto Instituto de Saúde Pública, Portugal
2018/11/07 - 2018/11/07 Edição génica por CRISPR-Cas: princípios básicos e aplicações Bioquímica em Saúde (Mestrado integrado) Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
2010/06 - 2010/06 Aplicações pós-microdissecção a laser e PCR em tempo real e Técnicas de hibridização in situ Anatomia Patológica, Citológica e Tanatológica (Licenciatura) Escola Superior de Tecnologias da Saúde do Porto, Portugal
2009/06 - 2009/06 Aplicações pós-microdissecção a laser e PCR em tempo real e Técnicas de hibridização in situ Anatomia Patológica, Citológica e Tanatológica (Licenciatura) Escola Superior de Tecnologias da Saúde do Porto, Portugal
2009/04 - 2009/04 Técnicas laboratoriais com interesse médico-legal Medicina Legal (Mestrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Mentoring / Tutoring

Topic Student name
2023/02/06 - 2023/03/31 Techniques and tools for the diagnosis and therapeutic development in Lysososmal Storage Diseases Celine Erb
2019/03 - 2021/09 In Vitro Toxicity of Metal Nanoparticles in Intestinal and Placental Cells. Joana Maria Araújo Pires

Other jury / evaluation

Activity description Institution / Organization
2024/07/17 - 2024/07/17 Arguer of a Seminar presentation of the PhD in Pharmaceutical Sciences, Specialization in Celular and Molecular Biology. Modelling mitochondrial diseases in zebrafish: functional validation of genetic variants of unknown significance (VUS) and strategies to a therapy. Student: Mateus Pereira Laranjeira Universidade do Porto Faculdade de Farmácia, Portugal
2023/02/14 - 2023/02/14 Arguer of a presentation at the discipline "Projeto I do Mestrado Integrado em Ciências Farmacêuticas". Zebrafish as a model to study Amyotrophic Lateral Sclerosis. Student: Sabrina Fernandes Oliveira. Universidade do Porto Faculdade de Farmácia, Portugal

Scientific expedition

Activity description Institution / Organization
2022/10/01 - 2022/10/30 Short Term Scientific Mission (STSM) for 1 month at UCL London, to learn zebrafish microinjection at one-cells stage of CRISPR-Cas9 components. I was awarded a grant from COST Action: CA17103, Reference: E-COST-GRANT-CA17103-d12e15da. University College London Division of Biosciences, United Kingdom
Distinctions

Other distinction

2022 Grant for a Short Term Scientific Mission (STSM)
COST Association, Belgium
2018 Travel Grant
2018 EMBL scholarship to participate in the course - Genome Engineering: CRISPR / Cas. The expenses were complemented with financing by the project PTDC / BIM-MEC / 4762/2014 (FCT)
EMBL Heidelberg Genome Biology, Germany
2014 Travel Grant
2014 Young Investigator Award for Best Presentation