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Sara M Lopes (PharmD, PhD) is an invited Assistant Researcher at the Gene and Stem Cell Therapies for the Brain Group at the Center for Neuroscience and Cell Biology (CNC), University of Coimbra. She got her PhD in 2021, where she acquired a vast experience on the design and construction of sequence-specific nucleases (with expertise in TALENs and CRISPR systems), viral vectors for therapy (lentivirus and adeno-associated virus) and pre-clinical models of the disease. Sara is the author of 12 peer-reviewed articles in scientific journals, 2 book chapters and of 2 provisional patent applications. She has an active participation in both national and international scientific meetings, being the author of a total of 50 oral communications and 76 poster presentations. The work that she has developed was awarded twice with the Best Work in Basic Research, attributed by the Portuguese Society of Movement Disorders in 2018 and by the Portuguese Society of Human Genetics in 2020. More recently, she has been involved in entrepreneurship and technology translation programmes. She received the Bronze Award (€10,000) from the EIT Health DPhil PhD Transition Fellowship for the project ExoEditor (2017), the First Prize (€20,000) of the innovation programme in neuroscience – Building Tomorrow Together for the project ExoTreat (Roche, 2020), the Acelera@UC Proof-of-Concept Award (€5,000) for the project SilenSCAs (2025), and was awarded Second Prize at the Seed Tech Transfer programme (2026), where she participated as a finalist with the SilenSCAs project.
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Identification

Personal identification

Full name
Sara Isabel Monteiro Lopes

Citation names

  • Lopes, Sara M.
  • Sara M. Lopes
  • Lopes, Sara
  • Sara Lopes
  • Lopes, S. M.
  • S. M. Lopes

Author identifiers

Ciência ID
D715-EE08-5DD9
ORCID iD
0000-0002-4322-8529

Knowledge fields

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

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
Spanish; Castilian Upper intermediate (B2) Advanced (C1) Upper intermediate (B2) Advanced (C1)
French Beginner (A1) Intermediate (B1) Beginner (A1) Elementary (A2)
Education
Degree Classification
2021/10/21
Concluded
 Doctoral Degree in Experimental Biology and Biomedicine (Doutoramento)
Major in Biotechnology and Health
Universidade de Coimbra Instituto de Investigação Interdisciplinar, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
"Gene editing technologies to Machado-Joseph disease" (THESIS/DISSERTATION)
 Approved with praise and distinction by unanimity
2019
Concluded
 CERTIFICATION DGAV: Investigator authorized to perform animal procedures (small rodents), in accordance with Portuguese national regulations on animal experimentation (Outros)
Direcção Geral de Veterinária, Portugal
2010/09/24
Concluded
 Mestrado Integrado em Ciências Farmacêuticas (Mestrado integrado)
Universidade de Coimbra Faculdade de Farmácia, Portugal
"Antidepressivos e Neurogénese" (THESIS/DISSERTATION)
 15
Affiliation

Science

Category
Host institution 		Employer
2025/06 - Current Invited Auxiliary Researcher (Research) Universidade de Coimbra, Portugal
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
(...)
2023/06 - 2025/06 Contracted Researcher (Research) Universidade de Coimbra, Portugal
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
(...)
2022/01/01 - 2023/04 Postdoc (Research) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2015/10/01 - 2021/12/31 Researcher (Research) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Vectors and Gene Therapy Group, Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
2010/09/01 - 2011/08/31 Researcher (Research) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Redox Biology and Brain Sensing Group, Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
2009/10 - 2010/01 Research Trainee (Research) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Neuroendocrinology and Ageing group, Center for Neuroscience and Cell Biology, University of Coimbra, Portugal

Teaching in Higher Education

Category
Host institution 		Employer
2024/09/01 - 2026/08/31 Invited Assistant Professor (University Teacher) Universidade de Coimbra Faculdade de Farmácia, Portugal
Universidade de Coimbra Faculdade de Farmácia, Portugal
2022/04/01 - 2022/08/31 Invited Assistant Professor (University Teacher) Universidade de Coimbra Faculdade de Farmácia, Portugal
Universidade de Coimbra Faculdade de Farmácia, Portugal

Others

Category
Host institution 		Employer
2012/10/18 - 2012/11/19 Graduate Student Researcher Broad Institute, United States
Projects

Grant

Designation Funders
2024/01/01 - Current GeneT - The Gene Therapy CoE at the Center of Portugal
101059981
Researcher
European Union
Ongoing
2024 - Current ERDERA - European Rare Diseases Research Alliance
101156595
Researcher
European Union
Ongoing
2024 - 2029 GCure: From Gene to Cure
101186929
Researcher
Ongoing
2025/01/01 - 2028/12/31 GeneH: Excellence Hub for Advancing Innovation in Gene Therapy
101186939
Researcher
Ongoing
2025/05/29 - 2028/05/27 SYSSCA – Harnessing Systems Biology to Better Understand Spinocerebellar Ataxias and to Identify New Treatments: A Paradigm for Rare Diseases
COMPETE2030-FEDER-00910800
Researcher
Universidade de Coimbra, Portugal

Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Ongoing
2023/09/01 - 2026/08/31 NEURODIET - Molecular Mechanisms of Dietary Intervention on Neurodegeneration (PT001)
JPND/0001/2022
10.54499/JPND/0001/2022
Researcher
Universidade de Coimbra, Portugal

Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2023/03/01 - 2024/08/31 From “bedside-to-bench” biomarker discovery: on the road to a clinical trial for Machado-Joseph Disease
2022.06118.PTDC
Researcher
Universidade de Coimbra, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
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, Portugal

Universidade de Coimbra Instituto de Investigação Clínica e Biomédica de Coimbra, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2022/11/01 - 2023/06/29 Fighting Sars-CoV-2 with viral vectors
CENTRO-01-01D2-FEDER000002
Post-doc Fellow
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Universidade de Coimbra, Portugal
Universidade de Coimbra
Concluded
2019/11/18 - 2021/12/31 BrainHealth 2020: Detecção precoce, neuro-modulação e terapias avançadas para neuropatologias
CENTRO-01-0145-FEDER-000008
Research Fellow
CNC.IBILI, Portugal
 Centro 2020 (Programa Operacional da Região Centro)
Concluded
2010/09/01 - 2011/08/31 In vivo dynamics of nitric oxide in the brain: regulation of cellular respiration and implications for Alzheimer´s disease and aging
PTDC/SAU-NEU/103538/2008
Research Fellow
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded

Contract

Designation Funders
2023/06/30 - Current CiNTech - Technological Hub for Innovation, Translation and Industrialization of Complex Injectable Drugs
02/C05-i01.01/2022.PC644865576-00000005
Researcher
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Universidade de Coimbra, Portugal
Universidade de Coimbra
Ongoing
2020 - Current CIBB
UIDB/04539/2020
UIDP/04539/2020
Researcher
2019 - Current Targeting mutant ATXN3 for the treatment of Spinocerebellar Ataxia 3 (SCA3) using allele-specific ASOs
N.A
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Wave Life Sciences
Ongoing
2021/01/01 - 2025/12/31 Centro de Inovação em Biomedicina e Biotecnologia - Laboratório Associado
LA/P/0058/2020
10.54499/LA/P/0058/2020
Universidade de Coimbra, Portugal

Universidade de Coimbra Instituto de Investigação Clínica e Biomédica de Coimbra, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2021 - 2025 Strategic Project LA – 2021-2025
ref LA/P/0058/2020
Researcher
Concluded
2020/01/01 - 2024/12/31 Centro de Inovação em Biomedicina e Biotecnologia
UIDB/04539/2020
10.54499/UIDB/04539/2020
Universidade de Coimbra, Portugal

Universidade de Coimbra Instituto de Investigação Clínica e Biomédica de Coimbra, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2022/01 - 2022/10 Collaboration agreement - F. Hoffmann - La Roche Ltd (Roche Group)
n.a
Post-doc Fellow
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
F Hoffmann-La Roche AG

F Hoffmann-La Roche AG Research and Development Division
2015/01/01 - 2019/12/31 CNC.IBILI
UID/NEU/04539/2013
UID/NEU/04539/2019
Researcher
CNC.IBILI, Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded
2017/08/01 - 2019/09/30 CutCAGs: Gene repair and repression strategies to alleviate Machado-Joseph disease
PTDC/NEU-NMC/0084/2014
POCI-01-0145-FEDER-016719
Research Fellow
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded
2016/10/01 - 2017/06/30 Research in stem cells and Machado Joseph disease
DPA-56-16-388
Research Fellow
Universidade de Coimbra, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Concluded
2016/04/15 - 2016/09/15 Towards the understanding of pathological protein processing and toxicity in Machado-Joseph Disease
E-Rare4/0003/2012
Research Fellow
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Concluded
2015/10/01 - 2015/12/31 Cabaletta@CNC
n.a.
Research Fellow
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 BioBlast Pharma, Ltda
Concluded
2011/10/01 - 2015/09/30 Gene Editing Technologies to Machado-Joseph Disease
SFRH/BD/51673/2011
PhD Student Fellow
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded
2013 - 2014 Strategic Project - LA 1 - 2013-2014
PEst-C/SAU/LA0001/2013
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded
2011 - 2012 Strategic project - LA 1 - 2011-2012
PEst-C/SAU/LA0001/2011
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded
Outputs

Publications

Book chapter
  1. Lopes, Sara Monteiro; Pereira de Almeida, Luis. "Gene editing and central nervous system regeneration". In Handbook of Innovations in Central Nervous System Regenerative Medicine, edited by Antonio J. Salgado, 399-433. Elsevier, 2020.
    Published • 10.1016/b978-0-12-818084-6.00011-8
  2. Matos, Carlos A.; Carmona, Vítor; Vijayakumar, Udaya-Geetha; Lopes, Sara; Albuquerque, Patrícia; Conceição, Mariana; Nobre, Rui Jorge; Nóbrega, Clévio; Pereira de Almeida, Luis. "Gene Therapies for Polyglutamine Diseases". In Polyglutamine Disorders, edited by Nóbrega, Clévio; de Almeida, Luís Pereira, 395-438. Springer International Publishing, 2018.
    Published • 10.1007/978-3-319-71779-1_20
Conference abstract
  1. Sara M. Lopes; 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 28th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT 2025), New Orleans, USA, New Orleans, 2025.
    Published
  2. P. De Luca; Lopes, Sara M. ; Pereira, Dina; L.S. Gaspar; B. Marques; P. Perdigão; A. Melo; et al. "Optimizing in vitro transcription methods for enhanced mRNA-based therapeutics.". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, Rome, 2025.
    Published • 10.1089/hum.2024.63331.oab
  3. L. Gaspar; B. Marques; Pereira, Dina; P. De Luca; P. Perdigão; Lopes, Sara M. ; R. Perfeito; et al. "Maximizing Yield and Functionality in saRNA Production: A Comparative Study of Commercial Kits and In Vitro Transcription Conditions". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, Rome, 2025.
    Published • 10.1089/hum.2024.63331.oab
  4. Pereira, Dina; A.S. Valdeira; L.S. Gaspar; P. De Luca; P. Perdigão; Lopes, Sara M. ; F.S.Silva; et al. "A comparative analysis of commercial kits for enhanced circular mRNA production: yield, profile, and in vitro assessment". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, Rome, 2025.
    Published • 10.1089/hum.2024.63331.oab
  5. C. Miranda; R. Perfeito; S.P. Duarte; C. Paulo; M.T. Rodrigues; L.S. Gaspar; Pereira, Dina; et al. "Comparative Analysis of Transfection Kits for Linear, Self-Amplifying, and Circular RNA". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, Rome, 2025.
    Published • 10.1089/hum.2024.63331.oab
  6. A.C. Silva; C. Henriques; Diana D. Lobo; A.R. Fernandes; Miguel M. Lopes; K. Leandro; 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 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, Rome, 2025.
    Published • 10.1089/hum.2024.63331.oab
  7. Silva, A.C.; Henriques, C; Lobo, Diana D.; Fernandes, A.R; Miguel M. Lopes; Pereira, Dina; Duarte, S.; et al. "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 27th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT 2024); Baltimore, USA, Baltimore, 2024.
    Published • 10.1016/j.ymthe.2024.04.020
  8. Lopes, Sara M. ; Miguel M. Lopes; Nobre, Rui Jorge; Vasconcelos-Ferreira, Ana; Pereira, Dina; Fernandes, Ana Rita; Barros, Inês; et al. Corresponding author: Pereira de Almeida, Luis. "Targeting the ATXN3 gene with CRISPR-Cas9 for the therapy of Machado-Joseph disease". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published
  9. A.R. Fernandes; D. Adão; Lopes, Sara M. ; D. Henriques; F. Pena; M. Dias; M. M. Santana; P. Perdigão; L. P. Almeida. "Engineering isogenic neuronal models of ATXN3 knockout in Machado-Joseph Disease patient cells by CRISPR/Cas9". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published • 10.1089/hum.2023.29258.abstracts
  10. K. Leandro; D. Rufino-Ramos; Lopes, Sara M. ; C. Pasqua; P. Santos; C. Silva; D. Lobo; et al. "Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Machado-Joseph Disease/Spinocerebellar Ataxia Type 3". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published • 10.1089/hum.2023.29258.abstracts
  11. M. M. Santana; D. Adão; P. De Luca; R. Martins; A.R. Fernandes; M. M. Pinto; Lopes, Sara M. ; L.P. de Almeida. "Neural induction and neuronal maturation of induced pluripotent stem cell is compromised in Machado-Joseph Disease lines". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published • 10.1089/hum.2023.29258.abstracts
  12. I. Barros; D. Gonzaga; D. D. Lobo; Lopes, Sara M. ; I. Martins; A. Silva; L. P. Almeida; C. O. Miranda. "The guardians of balance: mesenchymal stem cells as a promising strategy to restore blood-brain barrier integrity in spinocerebellar ataxia type 3". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published • 10.1089/hum.2023.29258.abstracts
  13. C. Silva; C. Henriques; D. D. Lobo; A.R. Fernandes; Miguel M. Lopes; Pereira, Dina; S.P. Duarte; 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 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published • 10.1089/hum.2023.29258.abstracts
  14. A.C. Silva; C. Henriques; D. D. Lobo; Pereira, Dina; S.P. Duarte; Lopes, Sara M. ; Miguel M. Lopes; et al. "Investigating routes of administration and AAV serotypes for development of a gene-based therapy for spinocerebellar ataxia type 3 (SCA3)". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published • 10.1089/hum.2023.29258.abstracts
  15. D. D. Lobo; L. Quintino; A.C. Silva; C. Henriques; R. Ribeiro; Lopes, Sara M. ; P. Perdigão; et al. "CRISPR activation as a therapeutic tool for Spinocerebellar ataxia type 3 (SCA3)". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, Brussels, 2024.
    Published • 10.1089/hum.2023.29258.abstracts
  16. Perdigao, P.; Dias, M.; Lopes, Sara M. ; Fernandes, R.; Pena, F.; Miguel M. Lopes; Nobre, R.; Gaj, T.; de Almeida, L.P.. "Engineering CRISPR-Based Editors for Treatment of Machado-Joseph Disease". Paper presented in 26th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT 2023), Los Angeles, USA, Los Angeles, 2023.
    Published • 10.1016/j.ymthe.2023.04.017
  17. Miguel M. Lopes; Jacques Paysan; José Rino; Lopes, Sara M. ; Luís P. Almeida; Luisa Cortes; Rui J. Nobre. "Biodistribution analysis of AAV vectors in the brain using tissue clearing coupled to light-sheet microscopy". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT 2022) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, Edinburgh, 2022.
    Published • 10.1089/hum.2022.29225.abstracts
  18. Pedro Perdigão; Carlos Matos; Lopes, Sara M. ; Rita Fernandes; Miguel M. Lopes; Andre Conceicao; Rosário Faro; et al. "Modelling Machado-Joseph Disease in patient-derived isogenic lines by CRISPR/Cas9-mediated correction of ATXN3-CAG expansion". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT 2022) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, Edinburgh, 2022.
    Published • 10.1089/hum.2022.29225.abstracts
  19. K. Leandro; D. Rufino-Ramos; T. D'Amelio; A. Margarida Salgueiro; Lopes, Sara M. ; Pereira, Dina; I. M. Martins; et al. "Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Machado-Joseph Disease". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT 2022) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, Edinburgh, 2022.
    Published • 10.1089/hum.2022.29225.abstracts
  20. A.C. Silva; D. D. Lobo; C. Henriques; I. M. Martins; Lopes, Sara M. ; S.P. Duarte; Wagner, E. ; Nobre, Rui; L., Pereira de Almeida. "Silencing of mutant ATXN3 through antisense oligonucleotides rescues molecular and neuropathological features in Machado-Joseph disease mice". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT 2022) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, Edinburgh, 2022.
    Published • 10.1089/hum.2022.29225.abstracts
  21. Lopes, Sara M. ; Miguel M. Lopes; Rui Nobre; Clévio Nóbrega; Matos, Carlos A; Ana Vasconcelos-Ferreira; Neville Sanjana; et al. Corresponding author: Pereira de Almeida, Luis. "Permanent inactivation of the ATXN3 gene: a possible therapeutic approach for Machado-Joseph disease". Paper presented in 24th Annual meeting of the Portuguese Society of Human Genetics (SPGH 2020), Virtual Meeting, Virtual Conference, 2021.
    Published
  22. Matos, Carlos A; Pena, Frederico; Conceição, André; Sara M. Lopes; Sónia P. Duarte; Miranda, CO; Pereira de Almeida, Luis. "CRISPR interference-mediated silencing of mutant ATXN3 decreases motor impairments of an in vivo Machado-Joseph disease model". Paper presented in 53rd Annual Scientific Meeting of the European Society for Clinical Investigation (ESCI2019), Coimbra, Portugal, Coimbra, 2019.
    Published • 10.1111/eci.13108
  23. Carlos A. Matos; Frederico Pena; Andre Conceicao; Lopes, Sara M. ; Sónia Duarte; Catarina Miranda; Luis Pereira de Almeida. "CRISPR-Cas9-Mediated Pre-Transcriptional Silencing of Mutant ATXN3 Decreases Motor Impairments of an In Vivo Machado-Joseph Disease Model. MOLECULAR THERAPY (2019) 27 (4): 120-121". Paper presented in 22nd Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT), Washington, DC, USA, 2019, 2019.
    Published • 10.1016/j.ymthe.2019.04.004
  24. Sara M. Lopes; Nobre, Rui; Nóbrega, Clévio David Rodrigues ; Miguel M. Lopes; Matos, Carlos A; Sanjana, Neville; Hsu, Patrick; et al. "TALEN and CRISPR Gene-Editing for Treatment of Machado-Joseph Disease". Paper presented in 21st Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT 2018). Chicago, USA, Chicago, 2018.
    Published • 10.1016/j.ymthe.2018.05.001
  25. Albuquerque, PR; Santana, Magda M; Nobre, Rui; Miranda, CO; Sara M. Lopes; Ribeiro-Rodrigues, Teresa M.; Girao, Henrique; Gomes, Célia; Pereira de Almeida, Luis. "Non-invasive brain delivery of hybrid extracellular vesicles (EVs) for therapy of Machado-Joseph Disease (MJD)". Paper presented in International Society for Extracellular Vesicles (ISEV2018) Annual Meeting, Barcelona, Spain, Barcelona, 2018.
    Published • 10.1080/20013078.2019.1612606
Conference poster
  1. RODRIGUES, M. T.; Paulo, Cristiana; Marques, Bruno; Valdeira, A. S. C.; Santos Silva, Francisca; Simões-Henriques, Carla; Gaspar, Laetitia S; et al. "Assessment of mRNA delivery approaches in HEK293T cells and Human Dermal Fibroblasts (HDF) with linear mRNA, self-amplifying mRNA (saRNA), and circular RNA (cRNA)". Paper presented in 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH 2025), Coimbra, Portugal, 2025.
  2. Simões-Henriques, Carla; Marques, Bruno; Paulo, Cristiana; Pereira, Dina; RODRIGUES, M. T.; Rita Perfeito; Sónia P. Duarte; et al. "Cost-effective linear mRNA production through optimized in vitro transcription, rational sequence engineering, and chemically modified nucleotides". Paper presented in 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH 2025), Coimbra, Portugal, 2025.
  3. Marques, Bruno; Simões-Henriques, Carla; RODRIGUES, M. T.; Paulo, Cristiana; Perdigão, PRL; Sónia P. Duarte; Miranda, CO; et al. "Optimized cost-effective production of self-amplifying RNA for RNA therapeutics: in vitro transcription conditions, sequence engineering, and chemically modified nucleotides". Paper presented in 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH 2025), Coimbra, Portugal, 2025.
  4. Valdeira, A. S. C.; Santos Silva, Francisca; Paulo, Cristiana; RODRIGUES, M. T.; Gaspar, Laetitia S; Miranda, CO; Rita Perfeito; et al. "Rational design and modified nucleotides enable cost-effective production of therapeutic circular RNA". Paper presented in 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH 2025), Coimbra, Portugal, 2025.
  5. Pereira, Margarida; Barros, Inês; Sara M. Lopes; Sónia P. Duarte; Pereira, Dina; Rita Perfeito; Nobre, Rui; Pereira de Almeida, Luis ; Miranda, CO. "Transcription factor-mediated glial reprogramming as a promising therapeutic approach for Machado-Joseph disease". Paper presented in 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH 2025), Coimbra, Portugal, 2025.
  6. RODRIGUES, M. T.; Paulo, Cristiana; Valdeira, A. S. C.; Santos Silva, Francisca; Marques, Bruno; Simões-Henriques, Carla; Gaspar, Laetitia S; et al. "Comparative Evaluation of mRNA Delivery Strategies in HEK293T Cells and Human Dermal Fibroblasts Using Linear, Self-Amplifying, and Circular RNA". Paper presented in 13th International mRNA Health Conference, Berlin, Germany, 2025.
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  9. Santos Silva, Francisca; Valdeira, A. S. C.; Paulo, Cristiana; RODRIGUES, M. T.; Gaspar, Laetitia S; Miranda, CO; Rita Perfeito; et al. "Advancing Circular RNA Therapeutics via Cost-Effective Production, Rational Sequencing Design, and Nucleotide Modifications". Paper presented in 13th International mRNA Health Conference, Berlin, Germany, 2025.
  10. Miguel M. Lopes; Lopes, Sara M.; R Baganha; Henriques, Carina; Silva, Ana Carolina; Lobo, Diana Duarte; Faro, Rosario; et al. Corresponding author: Nobre, Rui. "Streamlined heparin affinity chromatography enables efficient rAAV1/2 purification with superior CNS transduction compared to rAAV9 upon neonatal ICM delivery". Paper presented in 32nd Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2025), Seville, Spain, 2025.
  11. Almeida, João; Serra, Beatriz; Sónia P. Duarte; Sara M. Lopes; Santana, Magda M; Lopes, M.; Piguet, Françoise; et al. "Systemic delivery of CYP46A1 modulates cholesterol homeostasis and ameliorates disease features in a mouse model of Machado-Joseph disease". Paper presented in 32nd Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2025), Seville, Spain, 2025.
  12. Pereira, M.; Barros, Inês; Dias, B.; Santos, Vanessa; Sara M. Lopes; Sónia P. Duarte; Pereira, Dina; et al. "Evaluation of Ascl1 and Ngn2 for Direct Glial Reprogramming in Machado-Joseph Disease". Paper presented in 32nd Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2025), Seville, Spain, 2025.
  13. Serra, Beatriz; Almeida, Joao; Sónia P. Duarte; Sara M. Lopes; Lopes, Maria; Santana, Magda M; Piguet, Françoise; et al. "Systemic delivery of PHP.eB-AAV-CYP46A1 for brain cholesterol modulation - a promising non-invasive therapeutic strategy for Spinocerebellar Ataxia Type 3". Paper presented in XIX Meeting of the Portuguese Society for Neurosciences (SPN2025), Póvoa do Varzim, Portugal, 2025.
  14. Barros, Inês; Silva, Ana Carolina; Pereira, Dina; Sónia P. Duarte; Sara M. Lopes; Tomé, D.; Rita Perfeito; et al. "Exploring the Mechanisms Behind MSC-Based Therapy for Spinocerebellar Ataxia Type-3". Paper presented in XIX Meeting of the Portuguese Society for Neurosciences (SPN2025), Póvoa do Varzim, Portugal, 2025.
  15. Ana Margarida Salgueiro; Marisa Ferreira-Marques; Sara M. Lopes; Dina Pereira; Rodrigo F.N. Ribeiro; Magda Santana; Cláudia Cavadas; Luis Pereira de Almeida. "Investigating dietary strategies in Machado-Joseph Disease models". Paper presented in Annual Meeting of the Doctoral Programme in Experimental Biology and Biomedicine (PDBEB day 2025), Coimbra, Portugal, 2025.
  16. Almeida, Joao; Serra, Beatriz; Sónia P. Duarte; Sara M. Lopes; Lopes, Maria; Santana, Magda M; Piguet, Françoise; et al. "Modulation of Brain Cholesterol Metabolism via CYP46A1 in a Mouse Model of Spinocerebellar Ataxia Type 3". Paper presented in Annual Meeting of the Doctoral Programme in Experimental Biology and Biomedicine (PDBEB day 2025), Coimbra, Portugal, 2025.
  17. Lopes, Sara M.; Miguel M. Lopes; Santana, Magda M; Oliveira, Daniela; 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 28th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT 2025), New Orleans, USA, 2025.
  18. Lopes, Sara M. ; Miguel M. Lopes; Ana Daniela Oliveira; Magda M. Santana; Ana R. Fernandes; Ana Vasconcelos-Ferreira; 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, , Dublin, Ireland, 2025.
  19. Rodrigo F.N. Ribeiro; Dina Pereira; Lopes, Sara M. ; Reis, Tiago; Silva, Patrick; Diana Lobo; Gaspar, Laetitia; et al. "Circadian rhythms are disrupted in Machado-Joseph Disease: an in vitro, in vivo, and clinical study". Paper presented in 2024 International Congress for Ataxia Research (ICAR2024), London, United Kingdom, 2024.
  20. Pereira, Dina; Janete Cunha-Santos; Ana Vasconcelos-Ferreira; Joana Duarte-Neves; Isabel Onofre; Vítor Carmona; Célia A Aveleira; et al. Corresponding author: Luís Pereira de Almeida. "Nuclear ageing in polyglutamine-induced neurodegeneration: a highlight on Machado-Joseph disease". Paper presented in 2024 International Congress for Ataxia Research (ICAR2024), London, United Kingdom, 2024.
  21. Ana Rita Fernandes; Adão, Diana; Lopes, Sara M. ; Pena, Frederico; De Luca, Pasqualino; Henriques, Daniel; Mendonça, Liliana S.; et al. "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 2024 International Congress for Ataxia Research (ICAR2024), London, United Kingdom, 2024.
  22. Gaspar, Laetitia S; Marques, Bruno; De Luca, Pasqualino; Pereira, Dina; Perdigão, PRL; Lopes, Sara M.; Rita Perfeito; et al. "Cost-Effective Optimization of Self-Amplifying mRNA Production: Comparative Analysis of Commercial Kits and In Vitro Transcription Conditions". Paper presented in 12th International mRNA Health Conference, Boston, USA, 2024.
  23. Pereira, Dina; Valdeira, A. S. C.; De Luca, Pasqualino; Gaspar, Laetitia S; Lopes, Sara M.; Perdigão, PRL; Santos Silva, Francisca; et al. "Enhancing circular mRNA yield through in vitro transcription optimization". Paper presented in 12th International mRNA Health Conference, Boston, USA, 2024.
  24. De Luca, Pasqualino; Perdigão, PRL; Gaspar, Laetitia S; Pereira, Dina; Marques, Bruno; Lopes, Sara M.; Melo, Alexandra A.; et al. "Maximizing mRNA vaccine production by optimizing in vitro transcription processes". Paper presented in 12th International mRNA Health Conference, Boston, USA, 2024.
  25. Sónia P. Duarte; Rita Perfeito; Miranda, CO; RODRIGUES, M. T.; Paulo, Cristiana; Pereira, Dina; De Luca, Pasqualino; et al. "Functional assays to optimize transfection efficiency for linear, circular and self-amplifying mRNA". Paper presented in 12th International mRNA Health Conference, Boston, USA, 2024.
  26. Serra, Beatriz; Sónia Duarte; João Almeida; Lopes, Sara M. ; Françoise Piguet; Nathalie Cartier; Sandro Alves; Pereira de Almeida, Luis Fernando Morgado; Rita Perfeito. "Validation of AAV-PHP.eB-mediated CYP46A1 systemic delivery: a promising non-invasive gene therapy for Spinocerebellar Ataxia Type 3". Paper presented in 2024 International Congress for Ataxia Research (ICAR2024), London, United Kingdom, 2024.
  27. Maria Inês Barros; António Silva; Daniela Gonzaga; Diana Lobo; Pereira, Dina; Sónia Duarte; Lopes, Sara M. ; et al. "Mechanistic Insights into MSC Therapy for Machado-Joseph Disease: Nerve Growth Factor as a central effector?". Paper presented in 2024 International Congress for Ataxia Research (ICAR2024), London, United Kingdom, 2024.
  28. Barros, Inês; Gonzaga, Daniela; Lobo, Diana Duarte; Lopes, Sara; Martins, Inês; Silva, António; Pereira de Almeida, Luís; Miranda, Catarina Oliveira. "Exploring Mesenchymal Stromal Cells' Potential to Restore Blood-Brain Barrier Integrity in Machado-Joseph Disease". Paper presented in Innovative Therapies 4th CiBB Retreat 2024, 2024.
  29. Catarina Oliveira Miranda; Perfeito, Rita; Sónia P. Duarte; Paulo, Cristiana; RODRIGUES, MARIANA TEIXEIRA; Gaspar, Laetitia S; Pereira, Dina; et al. "Comparative analysis of transfection kits for linear, self-amplifying, and circular RNA". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, 2024.
  30. Gaspar, Laetitia S; Marques, Bruno; Pereira, Dina; De Luca, Pasqualino; Pedro Perdigão; Lopes, Sara; Perfeito, Rita; et al. "Maximizing Yield and Functionality in saRNA Production: A Comparative Study of Commercial Kits and In Vitro Transcription Conditions". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, 2024.
  31. De Luca, Pasqualino; Lopes, Sara; Pereira, Dina; Gaspar, Laetitia S; Marques, Bruno; Pedro Perdigão; Melo, Alexandra A.; et al. "Optimizing in vitro transcription methods for enhanced mRNA-based therapeutics". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, 2024.
  32. Pereira, Dina; Valdeira, A. S. C.; Santos Silva, Francisca; Gaspar, Laetitia S; De Luca, Pasqualino; Pedro Perdigão; Lopes, Sara; et al. "A comparative analysis of commercial kits for enhanced circular mRNA production: yield, profile, and in vitro assessment". Paper presented in 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, 2024.
  33. 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 31st Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2024), Rome, Italy, 2024.
  34. 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.". Paper presented in Extracellular Vesicles Gordon Research Conference 2024 - Structure and Function, Technology Development, and Clinical Application, Newry, Maine, USA, 2024.
  35. Leandro, Kevin; Rufino-Ramos, David; Sara M. Lopes; Paulo Santos; Silva, Ana Carolina; Fernandes, Ana Rita; Henriques, Carina; et al. "Engineered extracellular vesicles for delivery of CRISPR-Cas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3". Paper presented in Extracellular Vesicles Gordon Research Seminar - Structure and Function, Technology Development, and Clinical Application, Newry, Maine, USA, 2024.
  36. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Fernandes, Ana Rita; Miguel M. Lopes; Leandro, Kevin; Pereira, Dina; et al. "Allele-specific silencing for Spinocerebellar Ataxia Type 3 via AAV9 polycistronic microRNA-based therapy". Paper presented in Annual Meeting of the Doctoral Programme in Experimental Biology and Biomedicine (PDBEB day 2024), Coimbra, Portugal, 2024.
  37. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Fernandes, Ana Rita; Lopes, M. M.; Pereira, Dina; Duarte, S.P.; et al. "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 27th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT), Baltimore, USA, 2024.
  38. Lobo, Diana Duarte; Luís Quintino; Ana Carolina Silva; Carina Henriques; Ribeiro, Rodrigo; Lopes, Sara M. ; Pedro Perdigão; et al. Corresponding author: Pereira de Almeida, Luis Fernando Morgado. "CRISPR activation as a therapeutic tool for Spinocerebellar ataxia type 3 (SCA3)". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  39. Barros, Inês; Gonzaga, Daniela; Lobo, Diana Duarte; Lopes, Sara; Martins, Inês; Silva, Ana Carolina; Pereira de Almeida, L; Miranda, Catarina. Corresponding author: Miranda, Catarina. "The Guardians of Balance: Mesenchymal Stem Cells as a Promising Strategy to Restore Blood-brain Barrier Integrity in Spinocerebellar Ataxia Type 3.". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  40. 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 Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  41. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Fernandes, Ana Rita; Miguel M. Lopes; Pereira, Dina; Duarte, Sonia 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 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  42. Silva, Ana Carolina; Henriques, Carina; Lobo, Diana Duarte; Pereira, Dina; Duarte, Sonia P.; Lopes, Sara M. ; Miguel M. Lopes; et al. "Investigating routes of administration and AAV serotypes for development of a gene-based therapy for spinocerebellar ataxia type 3 (SCA3)". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  43. Leandro, Kevin; Rufino-Ramos, David; Lopes, Sara M. ; Pasqua, C; Santos, P; Silva, Ana Carolina; Lobo, Diana Duarte; et al. Corresponding author: Pereira de Almeida, Luis. "Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Machado-Joseph Disease/Spinocerebellar Ataxia Type 3". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  44. Fernandes, Ana Rita; Adão, Diana; Lopes, Sara M. ; Henriques, Daniel; Pena, Frederico; Dias, Miguel; Magda M Santana; Pedro Perdigão; Pereira de Almeida, Luis . Corresponding author: Pereira de Almeida, Luis. "Engineering isogenic neuronal models of ATXN3 knockout in Machado-Joseph Disease patient cells by CRISPR/Cas9". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  45. Lopes, Sara Monteiro; Miguel M. Lopes; Nobre, Rui Jorge; Vasconcelos-Ferreira, Ana; Pereira, Dina; Fernandes, Ana Rita; Barros, Maria Inês; et al. Corresponding author: Pereira de Almeida, Luis. "Targeting the ATXN3 gene with CRISPR-Cas9 for the therapy of Machado-Joseph disease". Paper presented in 30th Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2023), Brussels, Belgium, 2023.
  46. De Luca, Pasqualino; Adão, Diana; Martins, Rita; Fernandes, Ana Rita; Pinto, Maria M; Lopes, Sara M. ; Magda M Santana; Pereira de Almeida, Luis . Corresponding author: 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, Coimbra, Portugal, 2023.
  47. Leandro, Kevin; Rufino-Ramos, David; Lopes, Sara M. ; Pasqua, Carlo; Santos, Paulo; Silva, Ana Carolina; Lobo, Diana Duarte; et al. "Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Machado-Joseph Disease". Paper presented in CAG Triplet Repeat Disorders -Gordon Research Conference 2023. Vermont, USA, 2023.
  48. Pedro Perdigão; Miguel Dias; Lopes, Sara M. ; Rita Fernandes; Frederico Pena; Miguel M. Lopes; Rui Nobre; Thomas Gaj; Luis Pereira de Almeida. "Engineering CRISPR-Based Editors for Treatment of Machado-Joseph Disease". Paper presented in 26th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT 2023), Los Angeles, USA, 2023.
  49. Ribeiro, Rodrigo; Pereira, Dina; Reis, Tiago; Lopes, Sara M. ; Ferreira-Marques, Marisa; Fernandes, Rita; Gaspar, Laetitia S; et al. "The Circadian Clock is Disrupted in the YAC Machado-Joseph Disease Mouse Model". Paper presented in Annual Meeting of the Doctoral Programme in Experimental Biology and Biomedicine (PDBEB day 2023), Coimbra, Portugal, 2023.
  50. Miguel M. Lopes; J. Paysan; J. Rino; Lopes, Sara M. ; Pereira de Almeida, Luis ; L. Cortes; R. J. Nobre. "Biodistribution analysis of AAV vectors in the brain using tissue clearing coupled to light-sheet microscopy". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, 2022.
  51. Perdigão, P; Matos, Carlos A; Lopes, Sara; Fernandes, Ana Rita; Miguel M. Lopes; Conceição, André; Faro, Rosario; et al. "Modelling Machado-Joseph Disease in patient-derived isogenic lines by CRISPR/Cas9-mediated correction of ATXN3-CAG expansion". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, 2022.
  52. Leandro, Kevin; Rufino-Ramos, David; D'Amelio, T.; Salgueiro, Margarida A.; Lopes, Sara M. ; Pereira, Dina; Martins, M. I.; et al. Corresponding author: Pereira de Almeida, Luis. "Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Machado-Joseph Disease". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, 2022.
  53. Silva, Ana Carolina; Lobo, Diana Duarte; Henriques, Carina; Martins, M. I.; Sara M. Lopes; Duarte, Sonia, P. ; Wagner, E. ; Nobre, Rui Jorge; Pereira de Almeida, Luis. "Silencing of mutant ATXN3 through antisense oligonucleotides rescues molecular and neuropathological features in Machado-Joseph disease mice". Paper presented in 29th Congress of the European Society for Gene and Cell Therapy (ESGCT) in collaboration with BSGCT; Edinburgh, Scotland, United Kingdom, 2022.
  54. Lopes, Sara M. ; Miguel M. Lopes; Rui J. Nobre; Clévio Nóbrega; Carlos A. Matos; Ana Vasconcelos-Ferreira; Dina Pereira; et al. Corresponding author: Pereira de Almeida, L. "Engineered nucleases targeting the ATXN3 gene for the therapy of Machado-Joseph disease". Paper presented in 27th European Society for Animal Cell Technology Meeting (ESACT2022), Lisbon, Portugal, 2022.
  55. Ana Carolina Silva; Diana D. Lobo; Carina Henriques; Inês M. Martins; Sara M. Lopes* (D715-EE08-5DD9); Sónia P. Duarte; Elizabeth Wagner; Rui Jorge Nobre; Pereira de Almeida, Luis. "Antisense oligonucleotide mediated allele-specific silencing of mutant ATXN3 improves disease features in mouse models of Machado-Joseph disease". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience (SPN2021), Coimbra, Portugal., 2021.
  56. Kevin Leandro; David Rufino-Ramos; Sara Lopes; Inês M. Martins; Diana Lobo; Manuela Paoletta; Rosário Faro; Pedro Perdigão; Pereira de Almeida, Luis. "Extracellular vesicles transient delivery of CRISPR/Cas9 systems to knock-out ataxin-3 expression". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience (SPN2021), Coimbra, Portugal., 2021.
  57. Pedro Perdigão; Carlos Matos; Sara Lopes; Rita Fernandes; Miguel M. Lopes; Rosário Faro; Magda Santana; Rui Nobre; 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 (SPN2021), Coimbra, Portugal., 2021.
  58. Silva, Ana Carolina; Lobo, Diana Duarte; Henriques, Carina; Martins, Inês M.; Lopes, Sara M. ; Duarte, Sónia P; Wagner, Elizabeth; Nobre, Rui Jorge; Pereira de Almeida, Luis. "Allele-specific silencing of Machado-Joseph disease using antisense oligonucleotide therapeutics". Paper presented in 1st Symposium on Oligonucleotide Technologies and Therapeutics in Portugal (OTP2021), Online Event, 2021.
  59. Miguel M. Lopes; Jacques Paysan; José Rino; Sara M. Lopes; Rui J. Nobre; Luísa Cortes; Pereira de Almeida, Luis. "Whole-Brain Analysis of Adeno-Associated Virus (AAV) Biodistribution with Single-Cell Resolution by Tissue Clearing and Light-Sheet Microscopy.". Paper presented in 1st Annual Meeting in Pharmaceutical Sciences. Coimbra, Portugal., 2019.
  60. Sara Lopes* (D715-EE08-5DD9); Carlos Matos*; André Conceição; Frederico Pena; Miguel M. Lopes; Rui Nobre; Clévio Nóbrega; et al. "CRISPR-Cas9 systems targeting ATXN3 as therapeutic approaches for Machado-Joseph Disease.". Paper presented in International Ataxia Research Conference (IARC 2019), Washington, DC. USA, 2019.
  61. Ana Ferreira; Inês Martins; Diana Lobo; Pereira, Dina; Miguel M. Lopes; Sara Lopes (D715-EE08-5DD9); Rosário Faro; et al. "Reinstating levels of dysregulated autophagy-associated transcripts alleviates neuropathology and motor impairments of mouse models of Machado-Joseph Disease.". Paper presented in International Ataxia Research Conference (IARC 2019). Washington, DC. USA., 2019.
  62. Sara Lopes* (D715-EE08-5DD9); Carlos Matos*; André Conceição; Frederico Pena; Miguel M. Lopes; Rui Nobre; Clévio Nóbrega; et al. "CRISPR-Cas9 systems targeting ATXN3 as therapeutic approaches for Machado-Joseph Disease.". Paper presented in 2019 International Machado-Joseph Research Disease Conference. Washington, DC. USA., 2019.
  63. Ana Ferreira; Inês Martins; Diana Lobo; Pereira, Dina; Miguel M. Lopes; Sara Lopes (D715-EE08-5DD9); Rosário Faro; et al. "Reinstating levels of dysregulated autophagy-associated transcripts alleviates neuropathology and motor impairments of mouse models of Machado-Joseph Disease.". Paper presented in 2019 International Machado-Joseph Research Disease Conference. Washington, DC. USA., 2019.
  64. Miguel M. Lopes; Jacques Paysan; José Rino; Sara M. Lopes (D715-EE08-5DD9); Rui J. Nobre; Luísa Cortes; Pereira de Almeida, Luis. "Whole-Brain Analysis of Adeno-Associated Virus (AAV) Biodistribution with Single-Cell Resolution by Tissue Clearing and Light-Sheet Microscopy.". Paper presented in EMBO | EMBL Symposium: Seeing Is Believing – Imaging the Molecular Processes of Life. Heidelberg, Germany., 2019.
  65. Carlos A. Matos; André Conceição; Sara Lopes (D715-EE08-5DD9); Pereira de Almeida, Luis . Corresponding author: Pereira de Almeida, Luis. "CRISPR-Cas9 as a tool for silencing and correcting ATXN3, the gene causing Machado-Joseph disease.". Paper presented in XVI Meeting of the Portuguese Society for Neuroscience (SPN 2019). Lisbon, Portugal., 2019.
  66. Carlos A. Matos; André Conceição; Frederico Pena; Sara Lopes (D715-EE08-5DD9); Sónia Duarte; Catarina Miranda; Pereira de Almeida, Luis . Corresponding author: Pereira de Almeida, Luis. "Transcriptional repression of mutant human ATXN3 using CRISPR interference mitigates the pathological phenotype of an in vivo Machado-Joseph disease model.". Paper presented in XVI Meeting of the Portuguese Society for Neuroscience (SPN 2019). Lisbon, Portugal., 2019.
  67. Ana Vasconcelos-Ferreira; Inês Morgado Martins; Diana Lobo; Pereira, Dina; Miguel M. Lopes; Sara Lopes (D715-EE08-5DD9); Rosário Faro; et al. "Reinstating levels of dysregulated autophagy-associated transcripts alleviates neuropathology and motor impairments of mouse models of Machado-Joseph disease.". Paper presented in XVI Meeting of the Portuguese Society for Neuroscience (SPN 2019). Lisbon, Portugal, 2019.
  68. Matos, C.A.; Pena, F.; Conceição, A.; Lopes, Sara M. ; Duarte, S.; Miranda, C.; Pereira de Almeida, Luis. "CRISPR-Cas9-mediated pre-transcriptional silencing of mutant ATXN3 decreases motor impairments of an in vivo Machado-Joseph disease model.". Paper presented in 22nd Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT), Washington, DC, USA., 2019.
  69. Sara M. Lopes; Nobre, Rui; Nóbrega, Clévio David Rodrigues ; Miguel M. Lopes; Matos, Carlos A; Sanjana, Neville; Hsu, P.; et al. "TALEN and CRISPR Gene-Editing for Treatment of Machado-Joseph Disease". Paper presented in 21st Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT 2018), Chicago, USA, 2018.
  70. Lopes, S. M. (D715-EE08-5DD9); Nobre, R.; Nóbrega, C.; Lopes, M.M; Matos, C.A.; Sanjana, N.; Hsu, P.; et al. "TALEN and CRISPR gene-editing for treatment of Machado-Joseph disease.". Paper presented in 2nd International Ataxia Research Conference (IARC 2017). Pisa, Italy., 2017.
  71. Santana, M.M.*; Lopes, S. M.* (D715-EE08-5DD9); Onofre, I.; Álvaro, A.R.; Di Donato, R.; Pereira de Almeida, Luis ; *Equally contributed. "Generation of Machado-Joseph disease induced pluripotent cell lines and isogenic controls, using the CRISPR/Cas9 technology.". Paper presented in 2nd International Ataxia Research Conference (IARC 2017). Pisa, Italy., 2017.
  72. Matos, C.A.; Lopes, S. (D715-EE08-5DD9); Pereira de Almeida, Luis. "CRISPR-Cas9 as a tool for Machado-Joseph disease treatment and animal model generation.". Paper presented in EMBO Practical Course on Mouse Genome Engineering. Max Planck Institute of Molecular Cell Biology and Genetics (MPI-CBG), Dresden, Germany., 2017.
  73. Onofre, Isabel; Mendonça, Nuno; Lopes, Sara ; Nobre, Rui; Barbosa, Joana; Carreira, Isabel M; Carvalho, Lina; et al. "Characterization of a human Machado-Joseph Disease neuronal cell model derived from induced pluripotent stem cells.". Paper presented in 9th Annual meeting of the Portuguese Society for Stem Cells and Cell Therapies. Oeiras, Portugal., 2015.
  74. Onofre, Isabel; Mendonça, Nuno; Lopes, Sara (D715-EE08-5DD9); Nobre, Rui; Barbosa, Joana; Carreira, Isabel M.; Carvalho, Lina; et al. "Characterization of a human Machado-Joseph disease neuronal cell model derived from induced pluripotent stem cells.". Paper presented in 12th International Society for Stem Cell Research (lSSCR 2015) Annual Meeting. Stockholm, Sweden., 2015.
  75. Sara Lopes ; Rui Nobre; Clévio Nobrega; Neville Sanjana; Le Cong; Patrick Hsu; Fei Ann Ran; Feng Zhang; Pereira de Almeida, Luis. "Gene editing strategies towards Machado Joseph disease.". Paper presented in EMBO workshop: Modern DNA concepts and tools for safe gene transfer and modification. Institut de Biologie Génétique et Bio-Informatique (IBGBI), Evry-Val d'Essonne, France., 2015.
  76. Santana, Magda M; Nobrega, Clévio; Nobre, Rui Jorge; Miranda, Catarina Oliveira; Mendonça, Liliana; Sousa-Ferreira, Ligia; Simões, Ana Teresa; et al. "Gene therapy approaches to investigate pathogenesis and disease modifying strategies for neurodegenerative diseases". Paper presented in Showcasing Portuguese Pharma Science:Advances in Discovery, Development and Manufacturing. Hovione and MIT Portugal Pharma Science Symposium, 2014.
Journal article
  1. Kevin Leandro; David Rufino-Ramos; Sara M. Lopes; Francisca Santos Silva; Paulo Rodrigues-Santos; Ana Carolina Silva; Ana Rita Fernandes; et al. "Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3". Biomaterials (2026): https://doi.org/10.1016/j.biomaterials.2026.124119.
    10.1016/j.biomaterials.2026.124119
  2. Henriques, Carina; Albuquerque, Patrícia; Rufino-Ramos, David; Lopes, Miguel M.; Leandro, Kevin; Miranda, Catarina O.; Almeida, Rita; et al. "Extracellular vesicles-associated AAVs for the treatment of Machado-Joseph disease". Molecular Therapy (2025): https://doi.org/10.1016/j.ymthe.2025.10.022.
    Published • 10.1016/j.ymthe.2025.10.022
  3. 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
  4. Elter, Tim Lukas; Sturm, Daniel; Santana, Magda M.; Schaprian, Tamara; Raposo, Mafalda; Melo, Ana Rosa Vieira; Lima, Manuela; et al. "Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3". Journal of Neurology 272 1 (2024): https://doi.org/10.1007/s00415-024-12829-9.
    Published • 10.1007/s00415-024-12829-9
  5. Leandro, Kevin; Rufino-Ramos, David; Breyne, Koen; Di Ianni, Emilio; Lopes, Sara M.; Jorge Nobre, Rui; Kleinstiver, Benjamin P.; et al. "Exploring the potential of cell-derived vesicles for transient delivery of gene editing payloads". Advanced Drug Delivery Reviews 211 (2024): 115346. https://doi.org/10.1016/j.addr.2024.115346.
    Published • 10.1016/j.addr.2024.115346
  6. Miguel M. Lopes; Lopes, Sara M. ; Rafael Baganha; Carina Henriques; Ana C. Silva; Diana D. Lobo; Luísa Cortes; Luís Pereira de Almeida; Rui Jorge Nobre. "Isolation of Adeno-associated Viral Vectors Through a Single-step and Semi-automated Heparin Affinity Chromatography Protocol". Journal of Visualized Experiments (JoVE) 206 (2024): e66550.
    Published
  7. Miguel M. Lopes; Jacques Paysan; José Rino; Sara M. Lopes; Pereira de Almeida, Luis ; Luísa Cortes; Rui Jorge Nobre. "A new protocol for whole-brain biodistribution analysis of AAVs by tissue clearing, light-sheet microscopy and semi-automated spatial quantification". Gene Therapy (2022): https://doi.org/10.1038/s41434-022-00372-z.
    10.1038/s41434-022-00372-z
  8. Vasconcelos-Ferreira, Ana; Martins, Inês Morgado; Lobo, Diana; Pereira, Dina; Miguel M. Lopes; Faro, Rosário; Lopes, Sara M. ; et al. "ULK overexpression mitigates motor deficits and neuropathology in mouse models of Machado-Joseph disease". Molecular Therapy 30 1 (2022): 370-387. http://dx.doi.org/10.1016/j.ymthe.2021.07.012.
    Published • 10.1016/j.ymthe.2021.07.012
  9. Nobre, Rui Jorge; Lobo, Diana D.; Henriques, Carina; Duarte, Sonia P.; Lopes, Sara M. ; Silva, Ana C.; Miguel M. Lopes; et al. "MiRNA-Mediated Knockdown of ATXN3 Alleviates Molecular Disease Hallmarks in a Mouse Model for Spinocerebellar Ataxia Type 3". Nucleic Acid Therapeutics (2021): http://dx.doi.org/10.1089/nat.2021.0020.
    Published • 10.1089/nat.2021.0020
  10. Lopes, Sara Monteiro; Faro, Rosário; Miguel M. Lopes; Onofre, Isabel; Mendonça, Nuno; Ribeiro, Joana; Januário, Cristina; Nobre, Rui Jorge; Pereira de Almeida, Luis. "Protocol for the Characterization of the CAG Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies". The Journal of Molecular Diagnostics (2020): http://dx.doi.org/10.1016/j.jmoldx.2020.03.003.
    10.1016/j.jmoldx.2020.03.003
  11. Silva, Ana C; Lobo, Diana D; Martins, Inês M; Lopes, Sara Monteiro; Henriques, Carina; Duarte, Sónia P; Dodart, Jean-Cosme; Nobre, Rui Jorge; Pereira de Almeida, Luis. "Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders". Brain 143 2 (2020): 407-429. http://dx.doi.org/10.1093/brain/awz328.
    Published • 10.1093/brain/awz328
  12. Onofre, Isabel; Mendonça, Nuno; Lopes, Sara; Nobre, Rui; de Melo, Joana Barbosa; Carreira, Isabel Marques; Januário, Cristina; Gonçalves, António Freire; Pereira de Almeida, Luis. "Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment". Scientific Reports 6 1 (2016): 28220. http://dx.doi.org/10.1038/srep28220.
    Published • 10.1038/srep28220
Newspaper article
  1. João Ramalho-Santos; Sara Varela Amaral; Marta Quatorze; João Cardoso; Luís Pereira de Almeida; André Caetano; Ana Catarina Vinhas; et al. "Uma Viagem Rara", Público, 2020, https://www.publico.pt/2020/02/28/ciencia/fotogaleria/viagem-rara-400481.
Preprint
  1. Barros, Inês; Gonzaga, Daniela; Lobo, Diana; Lopes, Sara; Martins, Inês; Silva, António; Silva, Carina Henriques; et al. "Mesenchymal Stromal Cell Therapeutic Potential to Restore Neurovascular Integrity in Machado-Joseph Disease". 2026. https://doi.org/10.64898/2026.01.31.703043.
    10.64898/2026.01.31.703043
  2. Lopes, Sara M. ; 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
  3. Salgueiro, Ana Margarida Salgueiro; Ferreira-Marques, Marisa; Rodrigo F.N. Ribeiro; Pereira, Dina; Costa, Daniela G.; Santana, Magda M; Lopes, Sara; Pereira de Almeida, Luis ; Cavadas, Claudia. Corresponding author: Cavadas, Claudia. "The Ketogenic Diet as a Therapeutic Strategy for Neurodegenerative Diseases: from Mechanisms of Action to Translational Challenges". 2025. https://doi.org/10.5281/zenodo.15215859.
    10.5281/zenodo.15215859
  4. 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
  5. Pereira, Dina; Cunha-Santos, Janete; Vasconcelos-Ferreira, Ana; Duarte-Neves, Joana; Onofre, Isabel; Carmona, Vítor; Aveleira, Célia A; et al. "Nuclear aging in polyglutamine-induced neurodegeneration". 2023. https://doi.org/10.1101/2023.06.09.544056.
    10.1101/2023.06.09.544056
Thesis / Dissertation
  1. "Gene editing technologies to Machado-Joseph disease". PhD, Universidade de Coimbra Instituto de Investigação Interdisciplinar, 2021. https://estudogeral.uc.pt/handle/10316/105165.

Artistic / Performance

Theatre play
  1. Marionet theatre company. 2016. O Ponto que nos une.

Intellectual property

Provisional application for patent
  1. 2025. "CRISPR-Cas9 based tools: Potential novel therapeutic approaches for Machado-Joseph disease. International Application Number: PCT/IB2024/059800.".
  2. 2021. "Oligonucleotide primers for the characterization of the CAG tract and measurement of mutant mRNA in the context of polyglutamine disorders. International Application Number: PCT/IB2020/060705.".
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2026/02/04 Dietary modulation of neurodegenerative pathways in Machado-Joseph disease mouse model 56th Meeting of the Portuguese Society of Pharmacology (SPF2026)
(Coimbra, Portugal)
2026/02/04 Circadian rhythm disruption in Machado-Joseph disease: From translational biomarkers to emerging therapeutic strategies 56th Meeting of the Portuguese Society of Pharmacology (SPF2026)
(Coimbra, Portugal)
2026/02/04 Validation of systemic AAV-PHP.eB-mediated delivery of CYP46A1: A promising non-invasive gene therapy approach for spinocerebellar ataxia type 3 56th Meeting of the Portuguese Society of Pharmacology (SPF2026)
(Coimbra, Portugal)
2026/02/04 Exploiting dietary mimetics to target neurodegeneration in Machado-Joseph disease 56th Meeting of the Portuguese Society of Pharmacology (SPF2026)
(Coimbra, Portugal)
2026/02/04 Targeting brain cholesterol metabolism via systemic CYP46A1 gene therapy in a Machado–Joseph disease mouse model 56th Meeting of the Portuguese Society of Pharmacology (SPF2026)
(Coimbra, Portugal)
2026/02/04 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 56th Meeting of the Portuguese Society of Pharmacology (SPF2026)
(Coimbra, Portugal)
2025/11/20 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 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH 2025)
(Coimbra, Portugal)
2025/10/07 Validation of Systemic AAV-PHP.eB-Mediated Delivery of Cholesterol Hydroxylase CYP46A1 as a Non-Invasive Gene Therapy Approach for Spinocerebellar Ataxia Type 3 32nd Annual Congress of the European Society for Gene and Cell Therapy (ESGCT 2025)
(Seville, Spain)
2025/05/10 Molecular Biology and Gene Editing XIV Congress of the Portuguese Association of Biology and Geology Teachers (APPBG) – Biotechnology: what science produces and what we teach in schools
(Coimbra, Portugal)
2025/03/28 Assessing the potential of systemic CYP46A1 delivery via AAV-PHP.eB: a novel non-invasive gene therapy approach for Spinocerebellar Ataxia Type 3 Portuguese Society of Movement Disorders (SPDMov 2025)
(Fátima, Portugal)
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 2024 International Congress for Ataxia Research (ICAR2024)
(London, United Kingdom)
2024/11/12 CRISPR-Cas9-mediated ATXN3 gene inactivation as a potential therapeutic approach for Machado-Joseph disease 2024 International Congress for Ataxia Research (ICAR2024)
(London, United Kingdom)
2024/02/09 Targeted silencing via AAV9 polycistronic microRNA therapy rescues SCA3 molecular, neuropathological and motor deficits 54th Meeting of the Portuguese Society of Pharmacology (SPF2024)
(Lisbon, Portugal)
2024/02/07 Mesenchymal Stromal Cell Therapeutic Potential to Restore Neurovascular Integrity in Spinocerebellar Ataxia Type 3 54th Meeting of the Portuguese Society of Pharmacology (SPF2024)
(Lisbon, Portugal)
2024/02/07 Extracellular vesicles delivery of CRISPR-Cas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3 54th Meeting of the Portuguese Society of Pharmacology (SPF2024)
(Lisbon, Portugal)
2023/11/24 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)
2023/11/24 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)
2023/06/15 Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems to treat Machado-Joseph Disease 2023 CAG Triplet Repeat Disorder -Gordon Research Conference
(West Dover, Vermont, United States)
2023/02/01 Investigating the clock components and circadian activity in the YAC-MJD mouse model 53rd Meeting of the Portuguese Society of Pharmacology (SPF2023)
(Coimbra, Portugal)
2022/11/17 Modelling Machado-Joseph Disease in patient-derived isogenic lines by CRISPR/Cas9 homology directed repair 26th Annual Portuguese Society of Human Genetics Meeting (SPGH2022)
(Coimbra, Portugal)
2022/06/27 Engineered nucleases targeting the ATXN3 gene for the therapy of Machado-Joseph disease (Flash Talk Presentation) 27th European Society for Animal Cell Technology Meeting (ESACT2022)
(Lisbon, Portugal)
2022/02/10 Extracellular vesicles-mediated delivery of CRISPR/Cas9 systems for therapeutic genome editing Meeting of the Portuguese Society of Pharmacology (SPF2022)
(Porto, Portugal)
2022/02/10 Correction of ATXN3-CAG expansion in MJD patient-derived IPSC by CRISPR/Cas9 homology directed repair Meeting of the Portuguese Society of Pharmacology (SPF2022)
(Porto, Portugal)
2021/09/13 Extracellular vesicles- mediated delivery of CRISPR/Cas9 tools to treat Machado-Joseph Disease 1st Meeting of the Portuguese Network on Extracellular Vesicles (PNEV)
(Porto, Portugal)
2021/02/19 Phenotypic characterization of a relevant model of Machado-Joseph disease: The YAC-MJD mouse model. Meeting of the Portuguese Society of Pharmacology (SPF2021)
(Virtual Meeting, Portugal)
2021/02/19 Phenotypic characterization of neuronal cultures derived from Machado-Joseph disease induced pluripotent stem cells. Meeting of the Portuguese Society of Pharmacology (SPF2021)
(Virtual Meeting, Portugal)
2021/02/18 Allele-specific silencing of Machado-Joseph disease using antisense oligonucleotide therapeutics Meeting of the Portuguese Society of Pharmacology (SPF2021)
(Virtual Meeting, Portugal)
2020/11/25 Whole-Brain Biodistribution Analysis of Adeno-Associated Virus (AAV) with Single-Cell Resolution by Tissue Clearing and Light-Sheet Microscopy Early Career European Microscopy Congress 2020
(Virtual Meeting, United Kingdom)
2020/11/20 Permanent Inactivation of the ATXN3 Gene: A Possible Therapeutic Approach for Machado-Joseph Disease 24th Annual meeting of the Portuguese Society of Human Genetics (SPGH 2020)
(Virtual meeting, Portugal)
2020/02/07 CRISPR-mediated silencing of mutant ataxin-3 ameliorates motor symptoms of a Machado-Joseph disease model in vivo. XLX Meeting of the Portuguese Society of Pharmacology (SPF2020)
(Coimbra, Portugal)
2019/11/15 Reinstating levels of dysregulated autophagy-associated transcripts alleviates neuropathology and motor impairments of mouse models of Machado-Joseph Disease. International Ataxia Research Conference (IARC 2019).
(Washington, DC. , United States)
2019/11/14 CRISPR-Cas9 systems targeting ATXN3 as therapeutic approaches for Machado-Joseph Disease. Flash Talk Presentation. International Ataxia Research Conference (IARC 2019).
(Washington, DC, United States)
2019/11/13 CRISPR-Cas9 systems targeting ATXN3 as therapeutic approaches for Machado-Joseph Disease. 2019 International Machado-Joseph Research Disease Conference.
(Washington, DC., United States)
2019/11/12 Reinstating levels of dysregulated autophagy-associated transcripts alleviates neuropathology and motor impairments of mouse models of Machado-Joseph Disease. 2019 International Machado-Joseph Research Disease Conference.
(Washington, DC., United States)
2019/11/07 Whole-Brain Analysis of Adeno-Associated Virus (AAV) Biodistribution with Single-Cell Resolution by Tissue Clearing and Light-Sheet Microscopy. 2019 Spanish & Portuguese Advanced Optical Microscopy Meeting (SPAOM 2019).
(Coimbra, Portugal)
2019/11/07 A New Clearing Method for Whole-Brain Imaging with Single-Cell Resolution. 2019 Spanish & Portuguese Advanced Optical Microscopy Meeting 2019 (SPAOM 2019).
(Coimbra, Portugal)
2019/10/09 Whole-Brain Analysis of Adeno-Associated Virus (AAV) Biodistribution with Single-Cell Resolution by Tissue Clearing and Light-Sheet Microscopy. Flash Talk Presentation. EMBO | EMBL Symposium: Seeing Is Believing – Imaging the Molecular Processes of Life.
(Heidelberg, Germany)
2019/05/31 Permanent inactivation of the ATXN3 gene: A possible therapeutic approach for Machado-Joseph disease. XVI Meeting of the Portuguese Society for Neuroscience (SPN 2019).
(Lisbon, Portugal)
2019/05/22 CRISPR interference-mediated silencing of mutant ATXN3 decreases motor impairments of an in vivo Machado-Joseph disease model. 53rd Annual Scientific Meeting of the European Society for Clinical Investigation (ESCI).
(Coimbra, Portugal)
2018/05/02 Non-invasive brain delivery of hybrid extracellular vesicles for therapy of Machado-Joseph Disease (MJD). Annual Meeting ISEV2018.
(Barcelona, Spain)
2018/03/03 Tailoring gene editing strategies for the treatment of Machado-Joseph disease. Portuguese Society of Movement Disorders (SPDMov 2018).
(Curia, Portugal)
2018/02/17 Hybrid vesicles: a promising therapeutic approach for MJD and other neurodegenerative diseases. 1st Meeting on Vesicular Biology.
(Coimbra, Portugal)
2018/02/07 Protocol for the characterization of CAG tract and flanking polymorphisms in polyQ disorders: impact on the diagnosis and in the development of gene-based therapies. XLVIII Portuguese Society of Pharmacology Annual Meeting (SPF 2018).
(Lisbon, Portugal)
2018/02/07 Generation of a Machado-Joseph disease isogenic control induced pluripotent stem cell line. XLVIII Portuguese Society of Pharmacology Annual Meeting (SPF 2018).
(Lisbon, Portugal)
2018/02/07 AAV-Based tools for the development of cellular and animal models of Machado-Joseph disease. XLVIII Portuguese Society of Pharmacology Annual Meeting (SPF 2018).
(Lisbon, Portugal)
2018/02/07 CRISPR-Cas9-mediated pre-transcriptional silencing of mutant ataxin-3. XLVIII Portuguese Society of Pharmacology Annual Meeting (SPF 2018).
(Lisbon, Portugal)
2018/02/06 Reinstating levels of dysregulated autophagy-associated transcripts alleviates neuropathology and motor impairments of mouse models of Machado-Joseph disease. XLVIII Portuguese Society of Pharmacology Annual Meeting (SPF 2018).
(Lisbon, Portugal)
2018/01/15 Exosomes: tiny vesicles with great potential for MJD treatment. XII Spanish-Portuguese Conference on Controlled Drug Delivery.
(Coimbra, Portugal)
2017/09/30 TALEN and CRISPR gene-editing for treatment of Machado-Joseph disease. 2nd International Ataxia Research Conference (IARC 2017).
(Pisa, Italy)
2017/02/03 Gene editing strategies for Machado-Joseph disease. XLVII Portuguese Society of Pharmacology Annual Meeting (SPF 2017).
(Coimbra, Portugal)
2017/02/03 Pre-transcriptional silencing of ataxin-3 using a CRISPR-Cas9-derived system. XLVII Portuguese Society of Pharmacology Annual Meeting (SPF 2017).
(Coimbra, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2025/09 - Current A comparative transcriptomic study of molecular alterations in spinocerebellar ataxias
Co-supervisor
 Master in Biotechnology (Master)
Universidade do Algarve, Portugal
2025/09 - Current Characterization and Modulation of Glymphatic Clearance in a Mouse Model of Machado-Joseph Disease: a new Therapeutic Target
Supervisor
 Master in Cellular and Molecular Biology (Master)
Universidade de Coimbra, Portugal
2024/09/01 - Current Duchenne Muscular Dystrophy: Literature Review, Pilot Study on Prevalence in the Azores, and Proposal for a novel therapeutic approach using the CRISPR-Cas9 system
Co-supervisor
 Master in Biomedical Sciences (Master)
Universidade dos Açores, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2025/11/17 - 2025/11/17 ATMP Summit: The importance of advanced therapies in today’s context (EATRIS Portugal Spotlight event) (2025/11/17 - 2025/11/17)
Other (Member of the Organising Committee)
 Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Instituto Pedro Nunes, Portugal

Unidade Local de Saúde de Coimbra, Portugal

Instituto de Biologia Experimental e Tecnológica, Portugal
2013/12/18 - 2013/12/20 XI Annual CNC Meeting (2013/12/18 - 2013/12/20)
Meeting (Member of the Organising Committee)
 Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2012/06/02 - 2012/06/02 1st BEB Symposium "Science Dreams, challenges arise" (2012/06/02 - 2012/06/02)
Symposium (Member of the Organising Committee)
 Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2025/09/26 - Current European Researchers' Night 2025
2024/09/27 - Current European Researchers' Night 2024
2026/02/18 - 2026/03/25 Selected participant and finalist in the Seed Tech Transfer programme (INOVC+), focused on advancing the translation of research into technology-based spin-offs through structured training, mentorship and ecosystem integration (Centro 2030, ERDF-funded). Seed Tech Transfer (INOVC+)
2015/01 - 2025/01 Bioentrepreneurship Programme: Business Idea Acceleration for Researchers, including training in value proposition design, market analysis, Business Model Canvas, customer development and pitch presentation. Bioentrepreneurship Programme: Business Idea Acceleration for Researchers
Instituto Pedro Nunes, Portugal
2020/04/22 - 2020/06/30 Bootcamp in the framework of the innovation programme in neuroscience - Building Tomorrow Together
Other
 Building Tomorrow Together
Roche Farmaceutica Quimica Lda, Portugal
2016/11/18 - 2016/11/19 1st International Symposium - Brain Without Borders, held in Coimbra, Portugal. This event offered the opportunity to promote discussion on fundamental and translational research in stem cell biology applied to the Central Nervous System. A group of leading researchers from all over the world presented and discussed their work, sharing recent findings on 2D and 3D in vitro neuronal models, stem cell transplantation, in vivo gene therapy and neural tissue engineering.
Symposium
 Brain Without Borders
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2016/06/27 - 2016/07/01 Interdisciplinary educational program adressing concepts on how to offer "support for the aging society and create knowledge to deliver innovation and business." The course was part of the EIT Health Campus programme
Other
 Entrepreneurial Introductory Translational Research (EITR)
Exzellenzcluster CECAD in der Universität zu Köln, Germany
2016/03/17 - 2016/03/20 10th World Congress on Controversies in Neurology (CONy), Lisbon, Portugal. This event offered the opportunity to promote discussion on the molecular mechanisms of Machado-Joseph disease (MJD) and associated clinical features, discussing key considerations related with the translation from pre-clinical studies to clinical trials.
Congress
 10th World Congress on Controversies in Neurology (CONy)
2015/12 - 2015/12 Workshop on Applications of CRISPR to Genetically Tractable Organisms
Workshop
Fundação Champalimaud, Portugal
2014 - 2014 Laboratory animal science category B Course, under FELASA guidelines. Course focused on the training of scientists to manipulate laboratory animals.
Other
 Training in Laboratory Animal Science
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2012/10 - 2012/11/03 Bloodborne pathogen for researchers' course
Other
Broad Institute, United States
2012/10 - 2012/10/24 Managing hazardous waste course
Other
Broad Institute, United States

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2025/10/29 Optimizing Myogenic Differentiation of Urine-Derived Stem Cells: Insights Toward Amyotrophic Lateral Sclerosis Modeling - Master thesis in Pharmaceutical Biotechnology
(Thesis) Arguer
 Sofia Marlene Pacheco Nunes (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2025/10/24 Epigenetic Mechanisms in Schizophrenia: New Strategies in the Development of Effective Therapies - BSc monograph, Integrated Master in Pharmaceutical Sciences
(Thesis) Main arguer
 Erica Maria Nunes Marujo (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2025/10/22 Prime Editing: The future of Gene Editing? - BSc monograph, Integrated Master in Pharmaceutical Sciences
(Thesis) Main arguer
 Yasmin Almeida da Rocha (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2024/10/30 CRISPR-Cas9 technology as a potential cure for HIV-1 infection and its challenges - BSc monograph, Integrated Master in Pharmaceutical Sciences
(Thesis) Main arguer
 Diana Antunes dos Santos (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2024/09/24 Ketogenic Diet as Therapy of Neurodegenerative Diseases - BSc monograph, Integrated Master in Pharmaceutical Sciences
(Thesis) Main arguer
 Daniela Carolina Magro Dias Jorge Trino (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2022/09/21 Evaluation of patients with neurological diseases due to nucleotide repeat expansions - Master thesis in Pharmaceutical Biotechnology
(Thesis) Main arguer
 Madalena Maria Petronilo Marques (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2021/12/14 Impact of single nucleotide polymorphisms in genes associated with polyglutamine diseases on the development of gene therapies - Master thesis in Pharmaceutical Biotechnology
(Thesis) Main arguer
 Sara Alexandra Nascimento Costa e Pires Martins (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal

Ad Hoc journal article review

Journal title (ISSN) Publisher
2023 - 2024 Molecular Therapy
2023 - 2023 Human Molecular Genetics

Association member

Society Organization name Role
2023/12 - Current Ataxia Global Initiative (AGI)
2023/06 - Current European Society for Gene and Cell Therapy (ESGCT)
2019/02 - Current Sociedade Portuguesa de Neurociências
2012/09/20 - Current Ordem dos Farmacêuticos

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2025/12/05 - Current Gene editing tools: from basic concepts to practical applications Master in Biomedical Sciences Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
2025/10/18 - Current Gene editing tools: from basic concepts to practical applications Master in Pharmaceutical Biotechnology. Module I: Recombinant DNA Technology (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2025/05/20 - Current Gene editing-based therapies: Opportunities and limitations Genetics II course (Mestrado integrado) Universidade dos Açores, Portugal
2023/04/14 - Current Gene repair and models of disease Master in Pharmaceutical Biotechnology (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2023/03/03 - Current Gene editing in brain diseases Master in Molecular and Translational Neuroscience (Mestrado) Universidade de Coimbra Faculdade de Medicina, Portugal
2022/05/27 - Current Therapies based on gene editing: Potentialities and limitations Integrated Master's degree in Medicine, Interdisciplinary Seminar of Applied Molecular Biology and Fundamentals of Neuroscience (Mestrado integrado) Universidade dos Açores, Portugal
2022/05/12 - Current Therapies based on gene editing: Potentialities and limitations Interdisciplinary Seminar of Applied Molecular Biology and Fundamentals of Neuroscience (Mestrado integrado) Universidade de Coimbra Faculdade de Medicina, Portugal
2022/04/12 - Current Therapies based on gene editing: Potentialities and limitations Advanced Therapies Course, Doctoral Programme in Experimental Biology and Biomedicine (Doutoramento) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/04/21 - Current Therapies based on gene editing: Potentialities and limitations Advanced Therapies course, Doctoral Programme in Experimental Biology and Biomedicine (Doutoramento) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/03/16 - Current Gene Editing Genética Molecular Humana, Mestrado Análises Clínicas (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2021/03/15 - Current Genotyping, Haplotypes and CAGs Genética Molecular Humana, Mestrado Análises Clínicas (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2020/05/02 - Current Gene repair and models of disease Terapêutica Molecular e Engenharia de Tecidos, Mestrado de Biotecnologia Farmacêutica (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2019/04/22 - Current Gene editing strategies in gene therapy Advanced Therapies course, Doctoral Programme in Experimental Biology and Biomedicine (Doutoramento) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2019/03/30 - Current Gene repair and models of disease Terapêutica Molecular e Engenharia de Tecidos, Mestrado de Biotecnologia Farmacêutica (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2018/05/08 - Current Nuclease-based genome editing technologies Advanced Therapies course, : Doctoral Programme in Experimental Biology and Biomedicine (Doutoramento) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2018/04/14 - Current Gene repair and models of disease Terapêutica Molecular e Engenharia de Tecidos, Mestrado de Biotecnologia Farmacêutica (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2017/06/16 - Current Therapies based on gene editing using CRISPR and TALEN: Potentialities and limitations Mestrado de Farmacologia Aplicada (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2017/03/25 - Current Gene repair and disease models Terapêutica Molecular e Engenharia de Tecidos, Mestrado de Biotecnologia Farmacêutica (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2017/03/16 - Current Practical lecture integrated in the course “Pharmaceutical Technology I” Pharmaceutical Technology I (Mestrado integrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2016/06/25 - Current Gene edition: TALENs and CRISPR Mestrado de Farmacologia Aplicada Universidade de Coimbra Faculdade de Farmácia, Portugal
2016/06/16 - Current Gene editing strategies in gene therapy Advanced Therapies course, Doctoral Programme in Experimental Biology and Biomedicine (Doutoramento) Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2024/09/01 - 2026/08/31 Invited Assistant Professor (Cellular and Molecular Biology) Cellular and Molecular Biology (1st and 2nd semester) (Mestrado integrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2022/04 - 2022/08 Invited Assistant Professor (Molecular Biology) Molecular Biology (2nd semester) (Mestrado integrado) Universidade de Coimbra Faculdade de Farmácia, Portugal

Mentoring / Tutoring

Topic Student name
2026/02/26 - Current Co-supervision of Research Fellow – Project “Development of pathophysiological models” Francisca Margarido Pina Amaral
2026/02 - Current Co-Supervision of Research Fellow – Project CiNTech Marisa Ferreira Marques
2026/01 - Current Co-supervision of Research Fellow – Project “Development of pathophysiological models” Beatriz Isabel Gomes Salgado
2025/09 - Current Co-supervision of Research Fellow – Project “Development of pathophysiological models” Gabriela Veríssimo Rodrigues
2025/09 - Current Co-supervision of Research Fellow – Project “Development of pathophysiological models” Raquel Moreira Duarte
2025/04 - 2025/06 Scientific Mentoring of Master’s student - The molecular analysis of repeat expansion disorders: towards the development of gene-editing approaches Helena Isabel Mariz Carvalho
2025/02 - 2025/06 Co-supervision of Bachelor’s student - Gene editing strategies for the treatment of diseases – from the bench to the community Mariana Monteiro Ricardo
2024/04/15 - 2025/04/13 Supervision of Research Fellow – Project CiNTech Francisca Santos Silva
2022/12 - 2023/06 Scientific Mentoring of Research Fellow – Project MJDedit: Systems of gene editing for the ATXN3 gene Maria Adelaide Catarino Casquinha
2020/12 - 2022/08 Scientific Mentoring of Research Fellow in the context of a project funded by a Pharmaceutical company Ana Daniela Oliveira
2019/09 - 2020/12 Scientific Mentoring of Master’s student - Phenotypic characterization of cellular and animal models of Machado-Joseph disease Ana Daniela Oliveira
Distinctions

Award

2026 Second Prize of the Seed Tech Transfer Programme (2026) for the project “SilenSCAs”
2025 Acelera@UC Proof-of-Concept Awards (INOVC+ Category, 5000€), for the project “SilenSCAs: Precision therapy for spinocerebellar ataxia type 3 through mutant gene inactivation.”
Universidade de Coimbra, Portugal
2020 First prize of the innovation programme in neuroscience: Building Tomorrow Together (BTT, Roche initiative) with the project "ExoTreat" (20.000€)
Roche Farmaceutica Quimica Lda, Portugal
2020 Best Basic Research award for the work presented at the Portuguese Society of Human Genetics (SPGH 2020)
Sociedade Portuguesa de Genética Humana (SPGH), Portugal
2018 Best work in basic science presented at the Portuguese Society of Movement Disorders (SPDMov 2018)
Sociedade Portuguesa das doenças do Movimento (SPDMov), Portugal
2017 Bronze Award from the EIT Health DPhil PhD transition Fellowship for the project "ExoEditor - A combined therapeutic strategy for Machado-Joseph disease" (10.000€)
EIT Health, Germany

Other distinction

2025 Travel Award to attend the Rare Disease Research Conference 2025, Dublin, Ireland
The Rare Disease Clinical Trial Network, Ireland
2022 Image from the publication DOI: 10.1038/s41434-022-00372-z selected for the front cover of Gene Therapy, Volume 29, Issue 12 (December 2022), recognizing the visual and scientific impact of the work.
2022 Publication DOI: 10.1038/s41434-022-00372-z selected as Editor’s Choice by Gene Therapy (November 1, 2022), highlighting it as one of the journal’s key papers representing high-impact research in the field.
2019 Travel bursary to attend the MJD Satellite Conference in Washington DC, USA.
MJD Foundation, Australia
2017 Young Investigator Bursary to attend the IARC2017 congress
Ataxia UK, United Kingdom
2016 Travel Award for the CECAD Short Course on Entrepreneurial Introductory Translational Research (EITR)
Exzellenzcluster CECAD in der Universität zu Köln, Germany
2011 Individual 4-year PhD Fellowship (Ref. SFRH/BD/51673/2011).
Associação para a Inovação e Desenvolvimento da FCT, Portugal