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Identification

Personal identification

Full name
Ana Rita Moura Fernandes

Citation names

  • Fernandes, Ana Rita
  • Fernandes, Rita

Author identifiers

Ciência ID
B519-08B2-F01C
ORCID iD
0000-0003-0250-685X

Email addresses

  • afernandes@cnc.uc.pt (Professional)

Addresses

  • Rua Larga - Faculdade de Medicina, 1ºandar - POLO I Universidade de Coimbra, 3004-504, Coimbra, Coimbra, Portugal (Professional)

Websites

Knowledge fields

  • Natural sciences - Biological Sciences - Molecular Biology
  • 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 - Basic Medicine - Neurosciences
  • Natural sciences - Biological Sciences - Genetics and Heredity
  • Medical and Health Sciences - Basic Medicine - Medicinal Chemistry
  • Natural sciences - Biological Sciences - Biochemical Research Methods

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Upper intermediate (B2) Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Education
Degree Classification
2022/01/02 - 2026
Ongoing
 Biologia Experimental e Biomedicina (Doutoramento)
Universidade de Coimbra Instituto de Investigação Interdisciplinar, Portugal
"Assessing the impact of ATXN3 silencing in the context of a human model of Machado-Joseph Disease" (THESIS/DISSERTATION)
2023/07/11
Concluded
 On-Demand Neural Induction Course (Outros)
STEMCELL Technologies, Canada
2023/03/28 - 2023/03/31
Concluded
 ESGCT 6th Spring School, Giens, France (Outros)
European Society of Gene and Cell Therapy, Germany
2022/11/14 - 2022/11/18
Concluded
 VI Quantitative Fluorescence Microscopy Course (Outros)
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/01/19 - 2021/05/31
Concluded
 Research Methodologies in Life Sciences, Nature Sciences and Engineering (Outros)
Universidade de Coimbra Instituto de Investigação Interdisciplinar, Portugal
2021/02/27 - 2021/05/28
Concluded
 Inglês para Fins Académicos II (nível intermédio/avançado) (Outros)
Universidade de Coimbra Faculdade de Letras, Portugal
 17
2021
Concluded
 Gestão de Resíduos Hospitalares Perigosos - Triagem e Acondicionamento ; Ambiwaste Portugal (Outros)
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2020/08/01 - 2020/10/31
Concluded
 Scientific research methodologies - I&D: Gene Therapy and Stem Cells (Outros)
Universidade de Coimbra Instituto de Investigação Interdisciplinar, Portugal
2020/01 - 2020/02
Concluded
 Biostatistics in Health Sciences (Pós-Graduação)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2017/09 - 2019/07/18
Concluded
 Química Medicinal (Mestrado integrado)
Universidade de Coimbra, Portugal
"Resetting the clock on metabolic dysfunction" (THESIS/DISSERTATION)
 16
2013/09 - 2017/06
Concluded
 Química Medicinal (Licenciatura)
Universidade de Coimbra, Portugal
"Role of Immune Checkpoints expressed by Natural Killer and Dendritic Cells in Chronic Myeloid Leukemia" (THESIS/DISSERTATION)
 12
Affiliation

Science

Category
Host institution 		Employer
2018/04 - 2018/06 Research Trainee (Research) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Others

Category
Host institution 		Employer
2022/01/01 - Current PhD Student at CNC - Gene and Stem Cell Therapies for the Brain Group Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/01/19 - 2021/12/31 Research Fellow at CNC - Vectors and Gene Therapy Group Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2020/08/01 - 2020/10/31 Research Fellow at CNC - Vectors and Gene Therapy Group Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2020/05 - 2020/07/31 COVID-19 Taskforce - Research and development in biotechnology technician Universidade de Coimbra, Portugal
Laboratório de Analises Clínicas, Portugal
2019/11 - 2020/05 Trainee at ICVS - Population Health Assessment Group Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2018/09 - 2019/07 Trainee at CNC - Neuroendocrinology and Aging Group Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2018/02 - 2018/04 Trainee at Nuclear Magnetic Resonance Laboratory Universidade de Coimbra Departamento de Química, Portugal
Ressonância Magnética Nuclear da Universidade de Coimbra (UC-NMR), Portugal
2017/01 - 2017/06 Trainee at CNC - Immunology and Oncology Lab Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Projects

Grant

Designation Funders
2022/01/01 - 2023/12/31 Genome editing to rescue Machado-Joseph disease by alternative splicing
EXPL_MED-NEU_0936_2021
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2021/01/02 - 2021/12/31 miRSilencing
NA
Research Fellow
PTC Therapeutics Inc, United States
Concluded
Outputs

Publications

Conference poster
  1. Pereira, A.; Pires, M.; Silva, Ana Carolina; Almeida, Rita B.; Fernandes, Ana Rita; Pena, Frederico; Tomás, I.; et al. "Engineering RNA-targeting CRISPR/Cas13 ribonucleases for allele-specific knockdown of mutant ATXN3 for treatment of Spinocerebellar Ataxia Type 3". Paper presented in ESGCT/SETGYC Collaborative Congress, 2025.
  2. Pena, Frederico; Fernandes, Ana Rita; Miguel M. Lopes; Núñez, Jisette; Faro, Rosario; Pires, Mariana; Pereira, Ana Maria; Perdigão, PRL; Pereira de Almeida, Luis. "Establishment of a scalable neuronal reporter model of Machado-Joseph disease based on gene-edited patient cells as a platform for high-throughput drug repurposing". Paper presented in 32nd European Society of Gene and Cell Therapy Congress, 2025.
  3. Lopes, Sara M. ; Miguel M. Lopes; Santana, Magda M; Oliveira, AD; Fernandes, Ana Rita; Casquinha, Maria; Vasconcelos-Ferreira, Ana; et al. "CRISPR-Cas9-Mediated ATXN3 Gene Inactivation as a Promising Gene Therapy for Machado-Joseph Disease". Paper presented in ASGCT 2025, 2025.
  4. Lopes, Sara M. ; Miguel M. Lopes; Oliveira, AD; Santana, Magda M; Fernandes, Ana Rita; Vasconcelos-Ferreira, Ana; Pereira, Dina; et al. "Therapeutic Potential of CRISPR-Cas9-Mediated ATXN3 Gene Inactivation in Machado-Joseph Disease.". Paper presented in Rare Disease Research Conference 2025, 2025.
  5. Fernandes, Ana Rita; Diana Adão; Lopes, Sara M. ; Pena, Frederico; De Luca, Pasqualino; Henriques, Daniel; Mendonça, Liliana; et al. Corresponding author: Pereira de Almeida, Luis. "Engineering of patient-derived isogenic neuronal models by CRISPR/Cas9 to unravel the impact of ATXN3 knockout in Spinocerebellar Ataxia Type 3.". Paper presented in International Congress for Ataxia Research 2024, 2024.
  6. Rodrigo F.N. Ribeiro; Pereira, Dina; Lopes, Sara M. ; Reis, Tiago; Silva, Patrick; Lobo, Diana Duarte; Gaspar, Laetitia S; et al. "Circadian rhythms are disrupted in Machado-Joseph Disease: an in vitro, in vivo, and clinical study". Paper presented in International Congress for Ataxia Research 2024, 2024.
  7. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Fernandes, Ana Rita; Lopes, M. M.; Leandro, Kevin; Pereira, Dina; et al. "Intra-cisterna magna administration of allele-specific AAV-based therapy alleviates neuropathology and motor deficits in spinocerebellar ataxia type 3". Paper presented in ESGCT 31sth Congress, 2024.
  8. Leandro, Kevin; Rufino-Ramos, David; Lopes, Sara M. ; Santos, Paulo; Silva, Ana Carolina; Fernandes, Ana Rita; Henriques, Carina; et al. Corresponding author: Pereira de Almeida, Luis. "Engineered extracellular vesicles for delivery of CRISPR-Cas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3. Extracellular Vesicles Gordon Research Seminar - Structure and Function, Technology Development, and Clinical Application". Paper presented in Extracellular Vesicles Gordon Research Conference 2024 - Structure and Function, Technology Development, and Clinical Application, 2024.
  9. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Fernandes, Ana Rita; Miguel M. Lopes; Leandro, Kevin; Pereira, Dina; et al. Corresponding author: Pereira de Almeida, Luis. "Allele-specific silencing for Spinocerebellar Ataxia Type 3 via AAV9 polycistronic microRNA-based therapy". Paper presented in BEBDay 2024, 2024.
  10. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Fernandes, Ana Rita; Miguel M. Lopes; Pereira, Dina; Sónia P. Duarte; et al. Corresponding author: Pereira de Almeida, Luis. "Allele-Specific Silencing of Mutant ATXN3 Mitigates Motor Deficits and Neuropathology in a Severely Impaired Mouse Model of Spinocerebellar Ataxia Type 3 (SCA3)". Paper presented in ASGCT Annual Meeting 2024, 2024.
  11. Magda M Santana; D. Adão; De Luca, Pasqualino; R. Martins; Fernandes, Ana Rita; M. M. Pinto; Lopes, Sara M. ; Pereira de Almeida, Luis . Corresponding author: Pereira de Almeida, Luis. "Neural induction and neuronal maturation of induced pluripotent stem cell is compromised in Machado-Joseph Disease lines". Paper presented in 30th Annual Meeting of the European Society of Gene & Cell Therapy (ESGCT), Brussels, Belgium, 2023.
  12. De Luca, Pasqualino; Adão, D; Martins, R; Fernandes, Ana Rita; Pinto, MM; Lopes, Sara M. ; Santana, Magda M; Pereira de Almeida, Luis. "Neuronal maturation of induced pluripotent stem cell is altered in Machado Joseph-Disease cell lines". Paper presented in ETRS & SPCE-TC joint meeting, 2023.
  13. Fernandes, Ana Rita; Adão, D; Lopes, Sara M. ; Henriques, Daniel; Pena, Frederico; Dias, Miguel; Santana, Magda M; Perdigão, PRL; Pereira de Almeida, Luis. "Engineering isogenic neuronal models of ATXN3 knockout in Machado-Joseph Disease patient cells by CRISPR/Cas9". Paper presented in ESGCT 30th Annual Congress, 2023.
  14. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Fernandes, Ana Rita; Miguel M. Lopes; Pereira, Dina; Duarte, Sónia P; et al. "Allele-specific silencing of mutant ATXN3 rescues motor deficits and neuropathology in a severely impaired mouse model of spinocerebellar ataxia type 3 (SCA3) upon intra-cisterna magna administration". Paper presented in ESGCT 30th Annual Congress, 2023.
  15. Lopes, Sara M. ; Miguel M. Lopes; Nobre, Rui Jorge; Ferreira, Ana V; Pereira, Dina; Fernandes, Ana Rita; Barros, Inês; et al. "Targeting the ATXN3 gene with CRISPR-Cas9 for the therapy of Machado-Joseph Disease". Paper presented in ESGCT 30th Annual Congress, 2023.
  16. Leandro, Kevin; Rufino-Ramos, David; Lopes, Sara Monteiro; Pasqua, C; Santos, P; Silva, Ana Carolina; Lobo, Diana Duarte; et al. "Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Machado-Joseph Disease/Spinocerebellar Ataxia Type 3". Paper presented in ESGCT 30th Congress, 2023.
  17. Leandro, Kevin; Rufino-Ramos, David; Lopes, Sara Monteiro; Pasqua, C; Santos P; Silva, Ana Carolina; Lobo, Diana Duarte; et al. "Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Spinocerebellar Ataxia Type 3/Machado-Joseph Disease". Paper presented in CAG Triplet Repeat Disorders GRC, 2023.
  18. Perdigão, PRL; Dias, Miguel; Lopes, Sara M. ; Fernandes, Ana Rita; Pena, Frederico; Miguel M. Lopes; Nobre, Rui Jorge; Gaj, Thomas; Pereira de Almeida, Luis. "Engineering CRISPR-Based Editors for Treatment of Machado-Joseph Disease". Paper presented in ASGCT 26th Annual Meeting, 2023.
  19. Rufino-Ramos, David; Leandro, Kevin; Vitor, Carmona; Martins, Ines Morgado; Albuquerque, Patrícia Rosado; Fernandes, Ana Rita; Henriques, Carina; et al. "Extracellular Vesicle-Based Delivery of Silencing Sequences for the Treatment of Machado-Joseph Disease". Paper presented in American Society of Gene Therapy (ASGCT) 26th Annual, 2023.
  20. Rodrigo F.N. Ribeiro; Pereira, Dina; Reis, Tiago; Lopes, Sara M. ; Ferreira-Marques, Marisa; Fernandes, Ana Rita; Gaspar, Laetitia S; et al. "The Circadian Clock is Disrupted in the YAC Machado-Joseph Disease Mouse Model.". Paper presented in BEB Day 2023 - Doctoral Programme in Experimental Biology and Biomedicine (PDBEB) 17th symposium, 2023.
  21. Perdigão, PRL; Matos, Carlos A; Lopes, Sara M. ; Fernandes, Ana Rita; Miguel M. Lopes; Conceição, A; Faro, R; et al. "Modelling Machado-Joseph Disease in patient-derived isogenic lines by CRISPR/Cas9 homology directed repair.". Paper presented in 26th Annual Portuguese Society of Human Genetics Meeting, 2022.
  22. Perdigão, PRL; Matos, C; Lopes, Sara M. ; Fernandes, Ana Rita; Miguel M. Lopes; Conceição, A; Faro, R; et al. "Modelling Machado-Joseph Disease in patient-derived isogenic lines by CRISPR/Cas9-mediated correction of ATXN3-CAG expansion". Paper presented in ESGCT 29th Annual Congress, 2022.
  23. David Rufino-Ramos; Leandro, Kevin; Albuquerque, Patrícia Rosado; Carmona, Vitor; Martins, Ines Morgado; Faro, Rosário; Henriques, Carina; et al. "Extracellular vesicles-based delivery of silencing sequences for the treatment of Machado-Joseph disease (MJD)/ Spinocerebellar Ataxia type-3 (SCA3)". Paper presented in ESGCT 29th Congress, 2022.
  24. Perdigão, PRL; Matos, C; Lopes, Sara M. ; Fernandes, Ana Rita; Miguel M. Lopes; Faro, R; Santana, Magda M; Nobre, Rui Jorge; Pereira de Almeida, Luis. "Correction of ATXN3-CAG expansion in MJD patient-derived iPSC by CRISPR/Cas9 homology-directed repair.". Paper presented in 52th Meeting of the Portuguese Society of Pharmacology, 2022.
  25. Perdigão, PRL; Matos, Carlos A; Lopes, Sara M. ; Fernandes, Ana Rita; Miguel M. Lopes; Faro, Rosário; Santana, Magda M; Nobre, Rui Jorge; Pereira de Almeida, Luis. "Precise and scarless correction of ATXN3-CAG expansion by CRISPR/Cas9 for the generation of patient-derived MJD isogenic iPSC". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience, 2021.
  26. Fernandes, Ana Rita; Carmo-Silva, Sara; Babková, Marie; Ferreira-Marques, Marisa; Cavadas, Claudia. "From obesity to aging: studying the effect of poly-saturated fatty acids on circadian rhythm". Paper presented in Ageing: Models, Mechanisms and Therapies Conference, 2019.
Journal article
  1. Ribeiro, Rodrigo F N; Pereira, Dina; Lopes, Sara M; Reis, Tiago; Silva, Patrick; Lobo, Diana D; Gaspar, Laetitia S; et al. "Circadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease". Brain 148 11 (2025): 4127-4142. https://doi.org/10.1093/brain/awaf199.
    Published • 10.1093/brain/awaf199
  2. Martins, Mariana; Oliveira, Ana Rafaela; Martins, Solange; Vieira, José Pedro; Perdigão, Pedro; Fernandes, Ana Rita; de Almeida, Luís Pereira; et al. "A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia". International Journal of Molecular Sciences 24 16 (2023): 12603. http://dx.doi.org/10.3390/ijms241612603.
    Published • 10.3390/ijms241612603
  3. Rufino-Ramos, David; Albuquerque, Patrícia R.; Leandro, Kevin; Carmona, Vitor; Martins, Inês M.; Fernandes, Rita; Henriques, Carina; et al. "Extracellular vesicle-based delivery of silencing sequences for the treatment of Machado-Joseph disease/spinocerebellar ataxia type 3". Molecular Therapy 31 5 (2023): 1275-1292. http://dx.doi.org/10.1016/j.ymthe.2023.04.001.
    10.1016/j.ymthe.2023.04.001
Preprint
  1. Henriques, Carina; Lobo, Diana Duarte; Silva, Ana Carolina; Fernandes, Ana Rita; Lopes, Miguel Monteiro; Fayard, Audrey; Jan, Caroline; et al. "AAV-mediated allele-specific silencing alleviates neuropathology in a novel non-human primate model of Spinocerebellar ataxia type 3". 2025. https://doi.org/10.1101/2025.10.02.680027.
    10.1101/2025.10.02.680027
  2. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana D.; Fernandes, Ana Rita; Lopes, Miguel M.; Leandro, Kevin; Pereira, Dina; et al. "rAAV-Delivered Bicistronic Artificial microRNAs for Allele-Specific Silencing Improve Motor and Molecular Outcomes in Spinocerebellar Ataxia Type 3". 2025. https://doi.org/10.1101/2025.10.02.680011.
    10.1101/2025.10.02.680011
  3. Lopes, Sara Monteiro; Lopes, Miguel Monteiro; Oliveira, Daniela; Santana, Magda Matos; Fernandes, Ana Rita; Vasconcelos-Ferreira, Ana; Pereira, Dina; et al. "Gene Editing for ATXN3 Inactivation in Machado-Joseph disease: CRISPR-Cas9 as a Therapeutic Alternative to TALEN-Induced Toxicity". 2025. https://doi.org/10.1101/2025.02.14.637261.
    10.1101/2025.02.14.637261
Thesis / Dissertation
  1. "Resetting the clock on metabolic dysfunction". Master, Universidade de Coimbra Faculdade de Ciencias e Tecnologia, 2019. https://hdl.handle.net/10316/87821.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2024/11/12 Allele-specific silencing of mutant ataxin-3 via single administration of AAV9 vectors mitigates neuropathology and motor deficits in Spinocerebellar Ataxia Type 3; International Congress for Ataxia Research 2024
(London, United Kingdom)
2024/02 Targeted silencing via AAV9 polycistronic microRNA therapy rescues SCA3 molecular, neuropathological and motor deficits Annual meeting of the Portuguese Sociery of Pharmacology
(Lisbon, Portugal)
2023/11 Alterations In The Molecular Components Of The Circadian Clock In A Mouse Model Of Neurodegeneration Pharma PhD Day - Annual Meeting of PhD Students in Pharmaceutical Sciences
(Coimbra, Portugal)
2023/11 Polycistronic artificial microRNAs delivered by AAV9 alleviate Spinocerebellar Ataxia Type 3 (SCA3) Pharma PhD Day - Annual Meeting of PhD Students in Pharmaceutical Sciences
(Coimbra, Portugal)
2023/02 Investigating the clock components and circadian activity in the YAC-MJD mouse model. 53.º Reunião Anual da Sociedade Portuguesa de Farmacologia
(Coimbra, Portugal)
2020/02 Ataxin-2 prevents the circadian rhythm deregulation induced by saturated fatty acid 50th Meeting of the Portuguese Society of Pharmacology, 38th Meeting of Clinical Pharmacology and 19th Meeting of Toxicology
Universidade de Coimbra (Coimbra, Portugal)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2014/12 - 2015/04 Química no Pediátrico (2015/05)
Workshop (Member of the Organising Committee)
2014 - 2015 III Encontro Nacional de Estudantes de Química (2015/03 - 2015/03)
Meeting (Member of the Organising Committee)
 Núcleo de Estudantes de Química, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2019/03 - Current 1st day of Brain Awarenes week (BAW)
Exhibition
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2015/05/28 - Current Química no Pediátrico
Workshop
Núcleo de Estudantes de Química, Portugal
2015/03 - Current III Encontro Nacional de Estudantes de Química
Meeting
Núcleo de Estudantes de Química, Portugal
2015 - Current Hospital do Ursinho
Workshop
 Hospital do Ursinho
Universidade de Coimbra Faculdade de Medicina, Portugal
2019/06/28 - 2019/06/29 Aging: models, mechanisms and therapies conference
Congress

Association member

Society Organization name Role
2023/01/17 - Current European Society of Gene and Cell Therapy (ESGCT)
2015/07 - 2016/07 SOS Estudante Tesoureira
2014/05 - 2016/07 Núcleo de Estudantes de Química
2014/03 - 2015/06 SOS Estudante Voluntária
Distinctions

Award

2024 BEB 2024 Best poster award
Students from the PhD Programme in Experimental Biology and Biomedicine, Portugal, Portugal
2022 26th Annual Portuguese Society of Human Genetics Meeting - Best Oral Communication in Basic Research
Sociedade Portuguesa de Genética Humana, Portugal