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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.
Identification

Personal identification

Full name
Rafael Queirós Fernandes

Citation names

  • Fernandes, Rafael

Author identifiers

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

Email addresses

  • rafael231292@gmail.com (Professional)

Knowledge fields

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

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Upper intermediate (B2) Advanced (C1) Upper intermediate (B2) Advanced (C1) Upper intermediate (B2)
French Beginner (A1) Beginner (A1) Beginner (A1) Beginner (A1) Beginner (A1)
Education
Degree Classification
2016/01 - 2020/11/09
Concluded
Biologia (Doutoramento)
Major in Biologia de Sistemas
Universidade de Lisboa Faculdade de Ciências, Portugal
"uORF-mediated translational regulation of PERK: implications for cell homeostasis and human disease" (THESIS/DISSERTATION)
Approved with distinction and honor
2013/09 - 2015/07
Concluded
Bioquímica (Mestrado)
Major in Bioquímica Clínica
Universidade de Aveiro, Portugal
"Polymorphisms of the promoter region of ELANE gene in end-stage renal disease patients" (THESIS/DISSERTATION)
17
2010/09 - 2013/07
Concluded
Bioquímica (Licenciatura)
Universidade de Aveiro, Portugal
"Synthesis of new cationic porphyrins as antimicrobial agents" (THESIS/DISSERTATION)
14
Affiliation

Science

Category
Host institution
Employer
2016/01/01 - 2021/01/31 Researcher (Research) Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
Outputs

Publications

Conference poster
  1. Fernandes, Rafael; Luísa Romão. "Translational regulation of the human PERK by upstream open reading frames". Paper presented in 24ª Reunião Científica da Sociedade Portuguesa de Genética Humana, 2020.
  2. Fernandes, Rafael; Luísa Romão. "uORF-mediated translational regulation of the human PERK mRNA". Paper presented in EMBO | EMBL Symposium “The Complex Life of RNA", 2020.
  3. Fernandes, Rafael; Luísa Romão. "The PERK mRNA: an unexpected non-NMD-target". Paper presented in RNA 2019, 2019.
  4. Fernandes, Rafael; Luísa Romão. "Translational regulation mediated by upstream open reading frames in PERK mRNA". Paper presented in 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". Paper presented in 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". Paper presented in 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". Paper presented in 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". Paper presented in 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". Paper presented in 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". Paper presented in IJUP’15 – 8º Encontro de Jovens Investigadores da Universidade do Porto, 2015.
Encyclopedia entry
  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
Journal article
  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):
    Submitted
  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.
    Published • 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.
    Published • 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.
    Published • 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.
    Published
  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.
    Published • 10.3390/genes7050017
Report
  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/.
Thesis / Dissertation
  1. Fernandes, Rafael. "uORF-mediated translational regulation of PERK: implications for cell homeostasis and human disease". PhD, 2020.
  2. Fernandes, Rafael. "Polymorphisms of the promoter region of ELANE gene in end-stage renal disease patients". Master, 2015.
  3. Fernandes, Rafael. "Synthesis of new cationic porphyrins as antimicrobial agents". Degree, 2013.
Activities

Event organisation

Event name
Type of event (Role)
Institution / Organization
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)
Conference (Member of the Organising Committee)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Association member

Society Organization name Role
2019/01 - 2019/12 International RNA Society Membro
2017/04 - 2019/04 Portuguese Biochemistry Society (SPB) Membro
Distinctions

Other distinction

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