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I obtained my BSc in Biomedical Sciences in 2018, followed by my MSc in Biomedical Sciences – disease mechanisms in 2020, both at the University of Algarve. I’ve also obtained a post-graduation in experimental approaches in Biomedicine at the University of Algarve in 2021. During my master’s thesis I designed and developed several novel CRISPR/Cas9-based tools aiming to treat a rare polyglutamine neurodegenerative disorder, named Spinocerebellar Ataxia Type 2 (SCA2). In 2021 I became a research fellow at the Molecular Neuroscience and Gene Therapy (MNGT) Laboratory, led by Professor Clévio Nóbrega at the Algarve Biomedical Center Research Institute (ABC-RI), University of Algarve. Professor Clévio Nóbrega’s lab is dedicated to the study of cellular and molecular pathways for hereditary neurodegenerative disorders, such as spinocerebellar Ataxia Type 2 or Type 3, with the goal of developing advanced therapies for these disorders and improve upon existing ones. The project I worked on was funded by the French Muscular Dystrophy Association (AFM-Téléthon) and aimed at addressing the importance of a specific RNA-binding protein in polyglutamine diseases and its therapeutic potential. Recently our lab´s projects have also been aimed at Progeroid Syndromes, as a result professor Clévio Nobrega and I designed a new project aimed at developing novel molecular therapies for Cockayne Syndrome (CS). This project has been financed privately. Our current CS project is focused on assessing the therapeutic potential of FDA-approved molecules and in developing an AAV-based gene-replacement therapy, with the latter approach being of my particular interest. During my research activities, I have developed complete autonomy in a diverse set of techniques including molecular cloning, gene editing, CRISPR/Cas9 based tools design, cell culture, Western blot, production of lentiviral vectors, immunocytochemistry, mice genotyping, mice colony management, animal slices analysis, and statistical analysis. As of now, in my brief academic career I have contributed to eight conference posters and 3 oral conference presentations. Furthermore, I am the author of a review article and co-authored an original article in Quartile 1 peer-reviewed international journals, with both having already been cited two or more times (h-index = 2). Notably, I have supervised one Biomedical Sciences undergraduate student during her BSc dissertation in 2021, and am currently supervising another from the same degree.
Identification

Personal identification

Full name
Ricardo António Afonso Reis

Citation names

  • Afonso-Reis, Ricardo

Author identifiers

Ciência ID
9410-3C26-E889
ORCID iD
0000-0002-6448-058X

Knowledge fields

  • Natural sciences - Biological Sciences - Molecular Biology
  • Natural sciences - Biological Sciences - Cell Biology
  • Medical and Health Sciences - Medical Biotechnology - Technologies Involving the Manipulation of Cells, Tissues, Organs or the Whole Organism
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Basic Medicine - Neurosciences
  • Medical and Health Sciences - Medical Biotechnology - Gene-based Diagnostics and Therapeutic Interventions
  • Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
Spanish; Castilian Elementary (A2) Intermediate (B1) Elementary (A2) Intermediate (B1)
French Beginner (A1) Beginner (A1) Beginner (A1) Elementary (A2)
Education
Degree Classification
2023/03/01 - 2027/03/01
Ongoing
Ciências Biomédicas (Doutoramento)
Major in Gene therapy applied to genetic neurodegenerative disorders
Universidade do Algarve, Portugal
2020 - 2021
Concluded
Abordagens Experimentais em Biomedicina (Pós-Graduação)
Universidade do Algarve - Campus de Gambelas, Portugal
20
2018 - 2020
Concluded
Ciências Biomédicas (Mestrado)
Universidade do Algarve - Campus de Gambelas, Portugal
"Silencing ATXN2 through CRISPR-mediated insertion of a premature STOP codon" (THESIS/DISSERTATION)
18
2015 - 2018
Concluded
Ciências Biomédicas (Licenciatura)
Universidade do Algarve - Campus de Gambelas, Portugal
"Analysis of ZNF687 gene expression in different tumors using the cancer genome atlas database" (THESIS/DISSERTATION)
15
Affiliation

Science

Category
Host institution
Employer
2022/01/01 - Current Researcher (Research) Universidade do Algarve - Campus de Gambelas, Portugal
Algarve Biomedical Center Research Institute (ABC-RI), Portugal
2022/08/05 - 2022/10/31 Visiting Researcher (Research) University of Massachusetts Chan Medical School Horae Gene Therapy Center, United States
2021/02/01 - 2021/10/31 Researcher (Research) Universidade do Algarve - Campus de Gambelas, Portugal
Universidade do Algarve Centro de Investigação em Biomedicina, Portugal
2019/01 - 2019/03 Research Trainee (Research) Universidade do Algarve - Campus de Gambelas, Portugal
Universidade do Algarve Centro de Investigação em Biomedicina, Portugal
Projects

Grant

Designation Funders
2021/09/01 - Current Assessment of experimental therapies in pre-clinical studies of Cockayne Syndrome
#431
Ongoing
2021/01/01 - 2021/10/31 Overexpression of the RNA-binding protein GXXXX as a therapeutic strategy to Machado-Joseph disease and other Polyglutamine diseases
22424
Research Fellow
Universidade do Algarve Centro de Investigação em Biomedicina, Portugal
AFM-Téléthon
Concluded
Outputs

Publications

Conference abstract
  1. Afonso-Reis, Ricardo; Koppenol, Rebekah; Pereira de Almeida, Luis ; Matos, Carlos A; Nóbrega, Clévio David Rodrigues. "Silencing ATXN2 expression using CRISPR/Cas9". Paper presented in 24th Annual Meeting of the Portuguese Society for Human Genetics (SPGH), Lisbon, 2021.
    Published • 10.1097/MD.0000000000023585
  2. Conceição, André; Koppenol, Rebekah; Silva, Joana; Afonso-Reis, Ricardo; Tomé, Sandra; Carmo-Silva, Sara; Matos, Carlos A; Pereira de Almeida, Luis ; Nóbrega, Clévio David Rodrigues. "An RNA-binding protein alleviates pathology in two different mouse models of polyglutamine diseases". Paper presented in 24th Annual Meeting of the Portuguese Society for Human Genetics (SPGH), Lisbon, 2021.
    Published • 10.1097/MD.0000000000023585
Conference poster
  1. Paulino, Rodrigo; Afonso-Reis, Ricardo; Costa, Rafael G; Filipa Costa; Cristiana Madeira; Nóbrega, Clévio David Rodrigues . Corresponding author: Nóbrega, Clévio David Rodrigues. "Evaluation of DNA damage on neuronal cells through single cell gel electrophoresis". Paper presented in Ciência 2023, 2023.
  2. Marcelo, Adriana; Afonso, Inês T.; Rajado, Ana Teresa; Costa, Rafael G; Afonso-Reis, Ricardo; Pereira de Almeida, Luis ; Nóbrega, Clévio David Rodrigues. "Stress granule protein CARHSP1 as a potential therapeutic strategy for MJD". Paper presented in European Neuroscience Conference by Doctoral Students (ENCODS), 2023.
  3. Marcelo, Adriana; Afonso, Inês T.; Rajado, Ana Teresa; Costa, Rafael G.; Afonso-Reis, Ricardo; Pereira de Almeida, Luis ; Nóbrega, Clévio David Rodrigues. "Tackling Machado-Joseph disease through stress granules: is protein CARHSP1 a potential target for therapeutics?". Paper presented in FENS Regional Meeting, 2023.
  4. Moreira-Gomes, Tiago; Brito, David V.C.; Afonso-Reis, Ricardo; Codêsso, José Miguel; Voigt, Aaron; Nóbrega, Clévio David Rodrigues. "Translational regulation: exploring the impact of TRMT2A in Spinocerebellar ataxia type 3 /Machado-Joseph Disease". Paper presented in European Neuroscience Conference by Doctoral Students (ENCODS), 2023.
  5. Moreira-Gomes, Tiago; Brito, David V.C.; Afonso-Reis, Ricardo; Codêsso, José Miguel; Voigt, Aaron; Nóbrega, Clévio David Rodrigues. "Silencing Trmt2a as a novel therapeutic target in Spinocerebellar ataxia type 3 /Machado-Joseph Disease". Paper presented in FENS Regional Meeting 2023 (FRM 2023), 2023.
  6. Paulino, Rodrigo; Afonso-Reis, Ricardo; Costa, Rafael G.; Couto, Filipa; Cristiana Madeira; Nóbrega, Clévio David Rodrigues. "Comet assay: optimization and evaluation of DNA damage in neuronal cells". 2023.
  7. Paulino, Rodrigo; Afonso-Reis, Ricardo; Couto, Filipa; Costa, Rafael G.; Nóbrega, Clévio David Rodrigues. "Development and optimization of a comet assay to evaluate DNA damage in neuronal cells". 2023.
  8. Madeira, Cristiana R; Afonso-Reis, Ricardo; Paulino, Rodrigo; Nóbrega, Clévio David Rodrigues ; Matos, Carlos A; Sofia M. Calado. "Generation of a novel Cockayne syndrome B neuronal culture model from patient-derived induced pluripotent stem cells". Paper presented in FENS Regional Meeting 2023 (FRM 2023), 2023.
  9. Madeira, Cristiana R; Afonso-Reis, Ricardo; Nóbrega, Clévio David Rodrigues ; Sofia M. Calado; Matos, Carlos A. "Neuronal cultures differentiated from patient-derived induced pluripotent stem cells as a novel model of Cockayne syndrome B". Paper presented in European Neuroscience Conference by Doctoral Students (ENCODS), 2023.
  10. Koppenol, Rebekah; Matos, Carlos A; Afonso-Reis, Ricardo; Pereira de Almeida, Luis ; Nóbrega, Clévio David Rodrigues. "Tackling spinocerebellar ataxia type 2: targeting the ATXN2 gene with CRISPR-Cas-based silencing strategies". Paper presented in FENS Regional Meeting 2023 (FRM 2023), 2023.
  11. Rafael G. Costa; Afonso, Inês T.; Afonso-Reis, Ricardo; Matos, Carlos A; Nóbrega, Clévio David Rodrigues . Corresponding author: Nóbrega, Clévio David Rodrigues. "The role of a stress granules' component as a modulator of progerin's expression: a prospective approach to slow down accelerated aging in HGPS cells". Paper presented in Ageing Without Borders 2022, 2022.
  12. Marcelo, Adriana; Afonso, Inês T.; Rajado, Ana Teresa; Costa, Rafael G; Afonso-Reis, Ricardo; de Almeida, Luís Pereira; Nóbrega, Clévio David Rodrigues. "Modulation of stress granules components as a therapeutic approach for spinocerebellar ataxia type 3". Paper presented in V Encontro Anual do Algarve Biomedical Center, 2022.
  13. Koppenol, Rebekah; Conceição, André; Afonso, Inês T.; Afonso-Reis, Ricardo; Costa, Rafael G; Nóbrega, Clévio David Rodrigues. "Motor phenotype characterization of a new transgenic mouse model for Spinocerebellar ataxia type 2". Paper presented in V Annual Meeting of the Algarve Biomedical Center, 2022.
  14. Conceição, André; Koppenol, Rebekah; Marcelo, Adriana; Afonso-Reis, Ricardo; Afonso, Inês T.; Tomé, Sandra; Codêsso, José Miguel; et al. "A expressão da proteína G3BP1 reduz as anomalias neuropatológicas e motoras em modelos da Ataxia espinocerebelosa, tipo 3". Paper presented in Congresso SPDMov 2022, 2022.
  15. Adriana Marcelo; Afonso, Inês T.; Afonso-Reis, Ricardo; Brito, David; Costa, Rafael G; Ana Rosa; Alves-Cruzeiro, João; et al. "Autophagy induction mitigates Spinocerebellar ataxia type 2 disease hallmarks". Paper presented in Congresso da SPDMov 2022, 2022.
  16. Afonso-Reis, Ricardo; Brito, David V.C; Costa, Rafael G; Rosa, Ana; Alves-Cruzeiro, João; Nobre, Rui J.; Carlos A. Matos; Pereira de Almeira, Luis; Nóbrega, Clévio. "From Molecular Mechanisms to Therapy: A New Lwntiviral Mouse Model for Spinocerebellar Ataxia type 2". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience (SPN), 2021.
  17. Afonso-Reis, Ricardo; Koppenol, Rebekah; Conceição, André; Teixeira, Diogo; Marcelo, Adriana; Tomé, Sandra; Carmo-Silva, Sara; et al. "ASSESSING THE ROLE OF DIFFERENT G3BP1 REGIONS IN THE MITIGATION OF THE PATHOLOGICAL PHENOTYPE IN SCA2 AND SCA3 DISEASE MODELS". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience (SPN), 2021.
  18. Koppenol, Rebekah; Conceição, André; Marcelo, Adriana; Afonso-Reis, Ricardo; Afonso, Inês T.; Codêsso, José Miguel; Matos, Carlos A; Pereira de Almeida, Luis ; Nóbrega, Clévio David Rodrigues. "G3BP1 expression mitigates pathological phenotype in mouse models different polyglutamine diseases". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience (SPN), 2021.
  19. Marcelo, Adriana; Afonso, Inês T.; Afonso-Reis, Ricardo; Brito, David V.C.; Costa, Rafael G.; Rosa, Ana; Alves-Cruzeiro, João; et al. "FROM MOLECULAR MECHANISMS TO THERAPY: A NEW LENTIVIRAL MOUSE MODEL FOR SPINOCEREBELLAR ATAXIA TYPE 2". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience (SPN), 2021.
  20. Afonso-Reis, Ricardo; Koppenol, Rebekah; Conceição, André; Teixeira, Diogo; Marcelo, Adriana; Tomé, Sandra; Carmo-Silva, Sara; et al. "MAPPING THE DOMAINS OF RBP-X TOWARDS MITIGATION OF THE PATHOLOGICAL PHENOTYPE IN POLYGLUTAMINE DISEASE MODELS". Paper presented in IV Jornadas Algarve Biomedical Centre, 2021.
  21. Marcelo, Adriana; Ana Rosa; Alves-Cruzeiro, João; Ferreira, Benedita; Afonso-Reis, Ricardo; Afonso, Inês T.; Henriques, Carina; et al. "Study of Autophagy in Spinocerebellar Ataxia Type 2 Models: From Dysfunction to a Therapeutic Approach". Paper presented in JCB-JEM Symposium, 2021.
  22. Conceição, André; Koppenol, Rebekah; Marcelo, Adriana; Matos, Carlos A; Afonso-Reis, Ricardo; Tomé, Sandra; Teixeira, Diogo; Pereira de Almeida, Luis ; Nóbrega, Clévio David Rodrigues. "An RNA-binding protein alleviates pathology in two different mouse models of polyglutamine diseases". Paper presented in 24th Annual Meeting of the Portuguese Society for Human Genetics (SPGH), 2020.
  23. Afonso-Reis, Ricardo; Koppenol, Rebekah; Pereira de Almeida, Luis ; Matos, Carlos A; Nóbrega, Clévio David Rodrigues. "Silencing ATXN2 expression using CRISPR/Cas9". Paper presented in 24th Annual Meeting of the Portuguese Society for Human Genetics (SPGH), 2020.
  24. Caiado, Helena; Afonso-Reis, Ricardo; Authier, Tatiana; Cancela, M Leonor; Conceição, Natércia. "Analysis of ZNF687 gene expression in different tumors using the cancer genome atlas database". Paper presented in XXXVIII Jornadas Portuguesas de Genética, 2018.
Journal article
  1. Koppenol, Rebekah; Conceição, André; Afonso, Inês T; Afonso-Reis, Ricardo; Costa, Rafael G; Tomé, Sandra; Teixeira, Diogo; et al. "The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits". Brain 146 6 (2022): 2346-2363. http://dx.doi.org/10.1093/brain/awac473.
    Published • 10.1093/brain/awac473
  2. Marcelo, Adriana; Afonso, Inês T.; Afonso-Reis, Ricardo; Brito, David V. C.; Costa, Rafael G.; Rosa, Ana; Alves-Cruzeiro, João; et al. "Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy". Cell Death & Disease 12 12 (2021): http://dx.doi.org/10.1038/s41419-021-04404-1.
    Open access • Published • 10.1038/s41419-021-04404-1
  3. Afonso-Reis, Ricardo; Afonso, Inês T.; Nóbrega, Clévio David Rodrigues. "Current status of gene therapy research in polyglutamine spinocerebellar ataxias". International Journal of Molecular Sciences (2021):
    Open access • Published • 10.3390/ijms22084249
Thesis / Dissertation
  1. Afonso-Reis, Ricardo. "Silencing ATXN2 through CRISPR-mediated insertion of a premature STOP codon". Master, Universidade do Algarve Centro de Investigação em Biomedicina, 2020.
  2. Afonso-Reis, Ricardo. "Analysis of ZNF687 gene expression in different tumors using the cancer genome atlas database". Degree, Universidade do Algarve - Campus de Gambelas, 2018.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2024/02/09 CARHSP1, a stress granule component, as a potential therapeutic approach to SCA3 SPF meeting 2024
SPF - Portuguese Society of Pharmacology (Lisbon, Portugal)
2021 CRISPR/Cas9-mediated silencing of ATXN2 expression XLXI Meeting
Portuguese Society of Pharmacology (SPF) (Lisbon, Portugal)
2021 Mapping the domains of RBP-X towards mitigation of the pathological phenotype in polyglutamine disease models XLXI Meeting
Portuguese Society of Pharmacology (SPF) (Lisbon, Portugal)
2021 RBP-X protein mitigates disease traits in different mice models of polyglutamine diseases XLXI Meeting
Portuguese Society of Pharmacology (SPF) (Lisbon, Portugal)

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2022/03/01 - 2022/07/31 Generation of a HEK 293T ERCC6-knockout cell line as a Cockayne Syndrome model
Co-supervisor of Gustavo Miguel Sanches Rico
Ciências Biomédicas (Degree)
Universidade do Algarve Faculdade de Medicina e Ciências Biomédicas, Portugal
2021 - 2021/08 Assessing CRISPR/Cas9-mediated insertion of an indel mutation in the ATXN2 gene
Co-supervisor of Raquel Costa
Ciências Biomédicas (Degree)
Universidade do Algarve - Campus de Gambelas, Portugal

Mentoring / Tutoring

Topic Student name
2023/10 - 2024/09 Assessment of a gene therapy strategy for Cockayne Syndrome Adriana Afonso Vaz
Distinctions

Award

2023 PhD fellowship grant FCT 2022.09679.BD
Fundação para a Ciência e a Tecnologia, Portugal