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Rafael Queirós Fernandes graduated in Biochemistry in 2013. He started his scientific research activities during undergraduate training, when he had the opportunity to work within a research group in the field of organic chemistry at University of Aveiro, on a project aiming to synthesize porphyrinic compounds to be used in antimicrobial photodynamic therapy. During his master training at the Faculty of Pharmacy, University of Porto, he recognized the importance of applying scientific research to the clinic, while studying polymorphisms in the promoter region of the neutrophil elastase gene in end-stage chronic kidney disease patients. This work earned him the first authorship on a paper (Fernandes et al., Genes 2016; IF=3.242), marking the beginning of his scientific path studying gene expression and human genetics in the scope of human health/disease. In 2016, he obtained a PhD fellowship from FCT under the PhD Programme BioSYS (Biological Systems, Functional & Integrative Genomics), integrated in the BioISI (Biosystems & Integrative Sciences Institute), from Faculty of Sciences, University of Lisbon. His PhD project aimed to study cap-dependent mechanisms of mRNA translational control mediated by upstream open reading frames (uORFs) on the transcript encoding the stress-responsive kinase, PERK, which has been implicated in the aggravation of diabetes, neurodegenerative disorders and cancer. During his PhD he published five review papers and two paper summaries (either as first author or co-author) and presented eight posters at national and international scientific meetings. Moreover, he is currently preparing a manuscript with his results to be submitted to a high impact factor journal. After completing his PhD in 2020, he had the opportunity to continue has an independent researcher on a group from BioISI, where he functionally characterized mutations in the promoter and 5' untranslated region of genes related to familial hypercholesterolemia. From this work he published a paper as second author (Graça et al., Biomedicines 2021), and expects to collaborate on two more papers as co-author. Until now, he accumulated an impact factor of 12.90 and an h-index of 2.
Identificação

Identificação pessoal

Nome completo
Rafael Queirós Fernandes

Nomes de citação

  • Fernandes, Rafael

Identificadores de autor

Ciência ID
ED1C-61D9-D2D3
ORCID iD
0000-0003-4847-9869

Endereços de correio eletrónico

  • rafael231292@gmail.com (Profissional)

Domínios de atuação

  • Ciências Naturais - Ciências Biológicas - Bioquímica
  • Ciências Naturais - Ciências Biológicas - Biologia Molecular
  • Ciências Médicas e da Saúde - Medicina Básica - Genética Humana

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Português (Idioma materno)
Inglês Utilizador independente (B2) Utilizador proficiente (C1) Utilizador independente (B2) Utilizador proficiente (C1) Utilizador independente (B2)
Francês Utilizador elementar (A1) Utilizador elementar (A1) Utilizador elementar (A1) Utilizador elementar (A1) Utilizador elementar (A1)
Formação
Grau Classificação
2016/01 - 2020/11/09
Concluído
Biologia (Doutoramento)
Especialização em Biologia de Sistemas
Universidade de Lisboa Faculdade de Ciências, Portugal
"uORF-mediated translational regulation of PERK: implications for cell homeostasis and human disease" (TESE/DISSERTAÇÃO)
Approved with distinction and honor
2013/09 - 2015/07
Concluído
Bioquímica (Mestrado)
Especialização em Bioquímica Clínica
Universidade de Aveiro, Portugal
"Polymorphisms of the promoter region of ELANE gene in end-stage renal disease patients" (TESE/DISSERTAÇÃO)
17
2010/09 - 2013/07
Concluído
Bioquímica (Licenciatura)
Universidade de Aveiro, Portugal
"Synthesis of new cationic porphyrins as antimicrobial agents" (TESE/DISSERTAÇÃO)
14
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento
Empregador
2016/01/01 - 2021/01/31 Investigador (Investigação) Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
Produções

Publicações

Artigo em revista
  1. "Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes". Biomedicines 9 9 (2021): 1219-1219. http://dx.doi.org/10.3390/biomedicines9091219.
    10.3390/biomedicines9091219
  2. Gonçalo Nogueira; Fernandes, Rafael; Juan F. García-Moreno; Luísa Romão. "Nonsense-mediated RNA decay and its bipolar function in cancer". Molecular Cancer (2021):
    Submetido
  3. Fernandes, Rafael; Nogueira, Gonçalo; da Costa, Paulo J.; Pinto, Francisco; Romão, Luísa. "Nonsense-mediated mRNA decay in development, stress and cancer". Advances in Experimental Medicine and Biology 1157 (2019): 41-83. http://dx.doi.org/10.1007/978-3-030-19966-1_3.
    Publicado • 10.1007/978-3-030-19966-1_3
  4. Silva, Joana; Fernandes, Rafael; Romão, Luísa. "Translational regulation by upstream open reading frames and human diseases". Advances in Experimental Medicine and Biology 1157 (2019): 99-116. http://dx.doi.org/10.1007/978-3-030-19966-1_5.
    Publicado • 10.1007/978-3-030-19966-1_5
  5. Alves, Inês Teles Siefers; Condinho, Manuel; Custódio, Sónia; Pereira, Bruna F.; Fernandes, Rafael; Gonçalves, Vânia; da Costa, Paulo J.; et al. "Genetics of personalized medicine: cancer and rare diseases". Cell Oncology 41 (2018): http://dx.doi.org/10.1007/s13402-018-0379-3.
    Publicado • 10.1007/s13402-018-0379-3
  6. Joana silva; Fernandes, Rafael; Luísa Romão. "Gene expression regulation by upstream open reading frames in rare diseases". Journal of Rare Diseases Research & Treatment (2017): https://www.rarediseasesjournal.com/articles/gene-expression-regulation-by-upstream-open-reading-frames-in-rare-diseases.pdf.
    Publicado
  7. Fernandes, Rafael; Freitas, Bruno; Miranda, Vasco; Costa, Elísio; Santos-Silva, Alice; Bronze-da-Rocha, Elsa. "Polymorphisms of the ELANE Gene Promoter Region in End-Stage Chronic Kidney Disease Patients". Genes 7 5 (2016): 17. http://dx.doi.org/10.3390/genes7050017.
    Publicado • 10.3390/genes7050017
Entrada de enciclopédia
  1. Fernandes, Rafael; Luísa Romão. "Translational regulation by upstream open reading frames and its relevance to human genetic disease". In Encyclopedia of Life Sciences (eLS). Wiley, 2020. http://dx.doi.org/10.1002/9780470015902.a0029194.
    10.1002/9780470015902.a0029194
Poster em conferência
  1. Fernandes, Rafael; Luísa Romão. "Translational regulation of the human PERK by upstream open reading frames". Trabalho apresentado em 24ª Reunião Científica da Sociedade Portuguesa de Genética Humana, 2020.
  2. Fernandes, Rafael; Luísa Romão. "uORF-mediated translational regulation of the human PERK mRNA". Trabalho apresentado em EMBO | EMBL Symposium “The Complex Life of RNA", 2020.
  3. Fernandes, Rafael; Luísa Romão. "The PERK mRNA: an unexpected non-NMD-target". Trabalho apresentado em RNA 2019, 2019.
  4. Fernandes, Rafael; Luísa Romão. "Translational regulation mediated by upstream open reading frames in PERK mRNA". Trabalho apresentado em VIII National RNA Meeting: ptRNA2019, 2019.
  5. Fernandes, Rafael; Luísa Romão. "Modulation of protein translation mediated by upstream open reading frames (uORFs) in PERK mRNA". Trabalho apresentado em 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2018.
  6. Fernandes, Rafael; Mafalda Bourbon; Luísa Romão. "The interplay between nonsense-mediated mRNA decay (NMD) and the unfolded protein response (UPR) in myocardial infarction". Trabalho apresentado em Encontro Ciência 2018, 2018.
  7. Fernandes, Rafael; Mafalda Bourbon; Luísa Romão. "The interplay between nonsense-mediated mRNA decay (NMD) and the unfolded protein response (UPR): implications for physiology and myocardial infarction". Trabalho apresentado em 8th Meeting on Signal Transduction, 2017.
  8. Fernandes, Rafael; Mafalda Bourbon; Luísa Romão. "The interplay between nonsense-mediated mRNA decay (NMD) and the unfolded protein response (UPR) in myocardial infarction". Trabalho apresentado em 2º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, 2017.
  9. Fernandes, Rafael; Bruno Freitas; Vasco Miranda; Elísio Costa; Alice Santos-Silva; Elsa Bronze-da-Rocha. "Polymorphisms of the ELANE gene promoter region in end-stage chronic kidney disease patients". Trabalho apresentado em 53rd ERA-EDTA Congress, 2016.
  10. Fernandes, Rafael; Bruno Freitas; Elísio Costa; Alice Santos-Silva; Elsa Bronze-da-Rocha. "Neutrophil elastase gene polymorphisms in the inflammatory response of end-stage renal disease patients". Trabalho apresentado em IJUP’15 – 8º Encontro de Jovens Investigadores da Universidade do Porto, 2015.
Relatório
  1. Fernandes, Rafael; Luísa Romão. 2020. Upstream open reading frames (uORFs) as translational regulators in human disease. https://atlasofscience.org/upstream-open-reading-frames-uorfs-as-translational-regulators-in-human-disease/.
  2. Fernandes, Rafael; Luísa Romão. 2020. Nonsense-mediated mRNA decay (NMD): a bifunctional mechanism in human physiology and disease. https://atlasofscience.org/nonsense-mediated-mrna-decay-nmd-a-bifunctional-mechanism-in-human-physiology-and-disease/.
Tese / Dissertação
  1. Fernandes, Rafael. "uORF-mediated translational regulation of PERK: implications for cell homeostasis and human disease". Doutoramento, 2020.
  2. Fernandes, Rafael. "Polymorphisms of the promoter region of ELANE gene in end-stage renal disease patients". Mestrado, 2015.
  3. Fernandes, Rafael. "Synthesis of new cationic porphyrins as antimicrobial agents". Licenciatura, 2013.
Atividades

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação)
Instituição / Organização
2017/01 - 2017/11 Member of the organizing committee of the 21st Meeting of the Portuguese Society of Human Genetics (SPGH) (2017/11/16 - 2017/11/18)
Conferência (Membro da Comissão Organizadora)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Membro de associação

Nome da associação Tipo de participação
2019/01 - 2019/12 International RNA Society Membro
2017/04 - 2019/04 Portuguese Biochemistry Society (SPB) Membro
Distinções

Outra distinção

2019 International RNA'19 Congress Travel Grant
RNA Society, Estados Unidos
2016 PhD scholarship granted by PhD Programme BioSys-Biological Systems, Functional & Integrative Genomics
Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal