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Identification

Personal identification

Full name
David Rufino-Ramos

Citation names

  • Rufino-Ramos, David

Author identifiers

Ciência ID
0014-6760-FB96
ORCID iD
0000-0002-5125-9667

Email addresses

  • rufinoramosdavid@gmail.com (Professional)
  • arufinoramos@mgh.harvard.edu (Professional)

Knowledge fields

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

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Spanish; Castilian Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Education
Degree Classification
2017 - 2022/12/12
Concluded
 Doutoramento em Ciência Farmacêuticas (Doutoramento)
Universidade de Coimbra Faculdade de Farmácia, Portugal
"Extracellular vesicles: from brain communication to therapeutic delivery" (THESIS/DISSERTATION)
2019/06/02 - 2019/06/07
Concluded
 Extracellular Vesicles: From Biology to Biomedical Applications (Outros) (Postgraduate Certificate)
Gesellschaft zur Förderung der Lebenswissenschaften Heidelberg GmbH, Germany
2017 - 2017
Concluded
 FELASA Category B certified researcher for carrying out animal experiments (Outros)
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2011 - 2016
Concluded
 Mestrado Integrado em Ciências Farmacêuticas (Mestrado integrado)
Universidade de Coimbra Faculdade de Farmácia, Portugal
"CRISPR/CAS9 : uma ferramenta de edição genética para investigação e novas terapias" (THESIS/DISSERTATION)
 16,3
Affiliation

Science

Category
Host institution 		Employer
2023/05/08 - Current Postdoc (Research) Harvard Medical School, United States
Harvard Medical School, United States
(...)
2017/10/01 - 2022/09/30 Researcher (Research) Fundação para a Ciência e a Tecnologia, Portugal
CNC.IBILI, Portugal
2020/10 - 2021/04 Visiting Researcher (Research) Fundação para a Ciência e a Tecnologia, Portugal
Harvard Medical School, United States
(...)
2016/09 - 2017/09 Researcher (Research) Fundação para a Ciência e a Tecnologia, Portugal
CNC.IBILI, Portugal
Projects

Contract

Designation Funders
2017 - Current EU Joint Programme - Neurodegenerative Disease Research (2013 JPND Transnational call) project SynSpread
JPND-CD/0001/2013
Ongoing
2024/03/01 - 2026/02/28 Developing and delivering of novel gene editing technologies to contract GAA repeats in Friedreich's ataxia
NA
Principal investigator
Friedreich's Ataxia Research Alliance (FARA), United States
 Friedreich's Ataxia Research Alliance (FARA)
Ongoing
2017/10/01 - 2021/11/30 Exosome­-based silencing of Machado-­Joseph disease 
SFRH/BD/132618/2017
Universidade de Coimbra, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2018/07/01 - 2021/06/30 Bloqueio da neurodegenerescência por dispersão de silenciadores génicos
PTDC/BTM-SAL/29716/2017
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2016/05/01 - 2020/03/31 Iniciativa Europeia para a doença de Machado-Joseph / Ataxia Espinocerebelosa do tipo 3
JPCOFUND/0001/2015
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2015/03/01 - 2018/12/31 Papel e mecanismos da propagação da sinucleina e da ataxina-3 nas doenças de Parkinson e Machado-Joseph
JPND-CD/0001/2013
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2020 - Current Covid-19 Lab @ CNC / ViraVector
NA
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Ongoing
2020 - Current COVID-19 UC Lab
NA
Researcher
Universidade de Coimbra Faculdade de Farmácia, Portugal
Outputs

Publications

Conference poster
  1. Henriques, Carina; Silva, Marta; da Silva, António; Rufino-Ramos, David; Lopes, M. M.; Aron Badin, Romina; Hantraye, Philippe; Pereira de Almeida, L; Nobre, Rui Jorge. "Novel evidence of white matter contribution in Spinocerebellar Ataxia type 3 pathology". Paper presented in International Congress for Ataxia Research 2024, 2024.
  2. 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 Meeting of the European Society of Gene & Cell Therapy (ESGCT), Brussels, Belgium, 2023.
  3. 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.
  4. 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.
  5. Inês Morgado Martins; Sowa, Anna Sergeevna; Rufino-Ramos, David; Lobo, Diana Duarte; et al.. "Importin-8 silencing reduces ataxin-3 aggregation, alleviates neuropathology and delays progression of Spinocerebellar Ataxia Type 3 (SCA3)". Paper presented in ICAR2022 - International Congress for Ataxia Research, 2022.
  6. 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.
  7. Perdigão, P; Matos, Carlos A; Lopes, Sara; Fernandes, Ana Rita; Lopes, Miguel; 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 ESGCT 29th Annual Congress, European Society of Gene and Cell Therapy, Edinburgh, 2022, 2022.
  8. Rufino-Ramos, David; Kevin Leandro; Patricia R. Albuquerque; Vitor Carmona; Inês M. Martins; Rosário Faro; Carina Henriques; et al. "Extracellular vesicle-based delivery of silencing sequences for treatment of Machao-Joseph disease (MJD)/ Spinocerebellar Ataxia type-3 (SCA3)". Paper presented in 29th Congress of the European Society of Gene & Cell Therapy, 2022.
  9. Henriques, Carina; Lopes, Miguel Monteiro; Albuquerque, Patrícia Rosado; Rufino-Ramos, David; Gaspar, Laetitia S; Duarte, Diana Lobo; Silva, Ana Carolina; et al. "Production and isolation of natural and biologically active exo-AAVs for brain gene delivery". Paper presented in . ESGCT 29th Congress, 2022.
  10. "Extracellular Vesicles carrying engineered miRNAs alleviate Machado- Joseph Disease (MJD)". Paper presented in BEB Day 2022: The overview effect, 2022.
  11. "Intranasal delivery of Extracellular Vesicles carrying silencing sequences alleviates Machado-Joseph Disease". Paper presented in XVII Meeting of the Portuguese Society for Neuroscience, 2021.
  12. Rufino-Ramos, David. "An effective packaging cell line to highly produce Extracellular Vesicles for therapy of Machado-Joseph Disease". Paper presented in MicroBiotec 19, 5 - 7 December 2019, Coimbra, Portugal, 2019.
  13. Rufino-Ramos, David. "Extracellular Vesicles: a novel promising tool for therapy of Machado-Joseph Disease". Paper presented in 1st Annual Meeting in Pharmaceutical Sciences, 15 November 2019, Coimbra, Portugal, 2019.
  14. Rufino-Ramos, David. "Extracellular vesicles for therapy of spinocerebellar ataxia type 3". Paper presented in ESGCT 27th Annual, 22 - 25 October 2019, Barcelona, Spain, 2019.
  15. Rufino-Ramos, David. "Extracellular vesicles as a deliver system of miRNAs in Spinocerebellar ataxia type 3". Paper presented in EMBO PRACTICAL COURSE: Extracellular Vesicles: From Biology to Biomedical Applications, 2 - 7 Jun 2019, EMBL Heidelberg, Germany, 2019.
  16. Rufino-Ramos, David. "miRNA delivery via Exosomes in Machado-Joseph Disease". Paper presented in VIII National RNA Meeting: ptRNA2019, 2019.
  17. Rufino-Ramos, David. "EVs: a promising tool to deliver miRNAs against Machado-Joseph Disease". Paper presented in BBEV2018-The Biomarkers and Biogenesis of Extracellular Vesicles Workshop, 2018.
  18. Rufino-Ramos, David. "Exosomal isolation: towards an improved protocol". Paper presented in III ENEBT, 3rd-5th March 2017, University of Aveiro, Portugal, 2017.
Journal article
  1. Maalouf, Katia E.; Frederick, Dawn Madison; Sharma, Nutan; Haidar, Edwina Abou; Xiao, Tianhe; Han, Justin Seungkyu; Mahamdeh, Mohammed S.; et al. "Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model". Molecular Therapy Nucleic Acids 36 1 (2025): 102466. https://doi.org/10.1016/j.omtn.2025.102466.
    10.1016/j.omtn.2025.102466
  2. Nieland, Lisa; Vrijmoet, Anne B.; Jetten, Isabelle W.; Rufino-Ramos, David; de Reus, Alexandra J.E.M.; Breyne, Koen; Kleinstiver, Benjamin P.; et al. "CRISPR targeting of mmu-miR-21a through a single adeno-associated virus vector prolongs survival of glioblastoma-bearing mice". Molecular Therapy 33 1 (2025): 133-151. https://doi.org/10.1016/j.ymthe.2024.11.023.
    10.1016/j.ymthe.2024.11.023
  3. Ferreira da Silva, J.; Tou, C.J.; King, E.M.; Eller, M.L.; Rufino-Ramos, D.; Ma, L.; Cromwell, C.R.; et al. "Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases". Nature Biotechnology (2024): http://www.scopus.com/inward/record.url?eid=2-s2.0-85199250214&partnerID=MN8TOARS.
    10.1038/s41587-024-02324-x
  4. Leandro, K.; Rufino-Ramos, D.; Breyne, K.; Di Ianni, E.; Lopes, S.M.; Jorge Nobre, R.; Kleinstiver, B.P.; et al. "Exploring the potential of cell-derived vesicles for transient delivery of gene editing payloads". Advanced Drug Delivery Reviews 211 (2024): http://www.scopus.com/inward/record.url?eid=2-s2.0-85197258413&partnerID=MN8TOARS.
    10.1016/j.addr.2024.115346
  5. Welsh, J.A.; Goberdhan, D.C.I.; O’Driscoll, L.; Buzas, E.I.; Blenkiron, C.; Bussolati, B.; Cai, H.; et al. "Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches". Journal of Extracellular Vesicles 13 2 (2024): http://www.scopus.com/inward/record.url?eid=2-s2.0-85183359756&partnerID=MN8TOARS.
    10.1002/jev2.12404
  6. Rufino-Ramos, David; Leandro, Kevin; Perdigão, Pedro R.L.; O'Brien, Killian; Pinto, Maria Manuel; Santana, Magda M.; van Solinge, Thomas S.; et al. "Extracellular communication between brain cells through functional transfer of Cre mRNA mediated by extracellular vesicles". Molecular Therapy 31 7 (2023): 2220-2239. https://doi.org/10.1016/j.ymthe.2023.05.012.
    10.1016/j.ymthe.2023.05.012
  7. Rufino-Ramos, David; Albuquerque, Patrícia R.; Leandro, Kevin; Carmona, Vitor; Martins, Inês M.; Fernandes, Rita; Henriques, Carina; et al. Corresponding author: Breyne, Koen. "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.
    Published • 10.1016/j.ymthe.2023.04.001
  8. Breyne, Koen; Ughetto, Stefano; Rufino-Ramos, David; Mahjoum, Shadi; Grandell, Emily A.; de Almeida, Luís P.; Breakefield, Xandra O.. "Exogenous loading of extracellular vesicles, virus-like particles, and lentiviral vectors with supercharged proteins". Communications Biology 5 1 (2022): http://dx.doi.org/10.1038/s42003-022-03440-7.
    10.1038/s42003-022-03440-7
  9. Rufino-Ramos, David; Lule, Sevda; Mahjoum, Shadi; Ughetto, Stefano; Cristopher Bragg, D.; Pereira de Almeida, Luís; Breakefield, Xandra O.; Breyne, Koen. "Using genetically modified extracellular vesicles as a non-invasive strategy to evaluate brain-specific cargo". Biomaterials 281 (2022): 121366. http://dx.doi.org/10.1016/j.biomaterials.2022.121366.
    10.1016/j.biomaterials.2022.121366
  10. Barros, Inês; Marcelo, Adriana; Silva, Teresa P.; Barata, João; Rufino-Ramos, David; Pereira de Almeida, Luís; Miranda, Catarina O.; Ramos, António David Rufino; Almeida, Luís P. de. "Mesenchymal Stromal Cells’ Therapy for Polyglutamine Disorders: Where Do We Stand and Where Should We Go?". Frontiers in Cellular Neuroscience 14 (2020): http://dx.doi.org/10.3389/fncel.2020.584277.
    10.3389/fncel.2020.584277
  11. Rufino-Ramos, António; Rufino-Ramos, D.; Albuquerque, P.R.; Carmona, V.; Perfeito, R.; Nobre, R.J.; Pereira de Almeida, L.. "Extracellular vesicles: Novel promising delivery systems for therapy of brain diseases". Extracellular vesicles: Novel promising delivery systems for therapy of brain diseases 262 (2017): 247-258. http://www.sciencedirect.com/science/article/pii/S0168365917306971.
    10.1016/j.jconrel.2017.07.001
Newspaper article
  1. Rufino-Ramos, David. "Vinhas, Ana Catarina; Vasconcelos-Ferreira, Ana; Henriques, Carina S.; Silva, Ana Carolina; Miranda, Catarina Oliveira; Henriques, Daniel; Oliveira, Daniela; et al. "Uma viagem rara". PÚBLICO, 2020/02/28. https://www.publico.pt/2020/02/28/ciencia/fotogaleria/viagem-rara-400481.", 2020
Preprint
  1. Rufino-Ramos, David; Leandro, Kevin; Perdigão, Pedro R.L.; O’Brien, Killian; Pinto, Maria Manuel; Santana, Magda M.; van Solinge, Thomas S; et al. "Extracellular communication between brain cells through functional transfer of Cre mRNA". 2023. http://dx.doi.org/10.1101/2023.01.29.525937.
    10.1101/2023.01.29.525937
  2. da Silva, Joana Ferreira; Tou, Connor J.; King, Emily M.; Eller, Madeline L.; Ma, Linyuan; Rufino-Ramos, David; Kleinstiver, Benjamin P.. "Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases". 2023. http://dx.doi.org/10.1101/2023.09.12.557440.
    10.1101/2023.09.12.557440
Thesis / Dissertation
  1. Ramos, António David Rufino. "Extracellular vesicles: from brain communication to therapeutic delivery". PhD, Universidade de Coimbra, 2022. https://hdl.handle.net/10316/114207.

Artistic / Performance

Theatre play
  1. 2020. Viegas, Teresa Ana; Marques, Andreia; Santos, Bárbara; Henriques, Carina S.; Rufino-Ramos, David; Lobo, Diana Duarte; Alfaiate, Inês; et al. 2019. Holy CIBB..

Intellectual property

Provisional application for patent
  1. 2022. "Engineering of cellular by-products for the delivery of therapeutic silencing molecules".
    Protected

Other

Other output
  1. Isolation of Biologically Active Extracellular Vesicles-Associated AAVs for Gene Delivery to the Brain by Size Exclusion Chromatography. 2023. Henriques, C.; Lopes, M.M.; Albuquerque, P.; Rufino-Ramos, D.; Gaspar, L.S.; Lobo, D.; Leandro, K.; et al. http://www.scopus.com/inward/record.url?eid=2-s2.0-85162069371&partnerID=MN8TOARS.
    10.1101/2023.05.30.542901
  2. CRISPR/CAS9 : uma ferramenta de edição genética para investigação e novas terapias. Monografia realizada no âmbito da unidade Estágio Curricular do Mestrado Integrado em Ciências Farmacêuticas, apresentada à Faculdade de Farmácia da Universidade de Coimbra. Os crescentes avanços na área da terapia génica têm revolucionado a maneira de pensar sobre tudo o que nos rodeia, particularmente na área da saúde. O sistema CRISPR/Cas9 (clustered regularly short palindromic repeats-CRISPR a. 2016. Almeida, Luís Pereira de; Ramos, António David Rufino. http://hdl.handle.net/10316/42065.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2022/07/26 Extracellular Communication in the Brain Through Functional Transfer of CRE ExRNA Understanding Extracellular Vesicle Biogenesis and Composition for Detection and Treatment of Diseases
Gordon Research Conference (United States)
2022/07/23 Extracellular Communication in the Brain through Functional Transfer of CRE ExRNA The Dichotomy of EVs: From Biomarkers and Purveyors of Disease to Potential Therapeutic Agents
Gordon Research Seminar
2022/06/27 Extracellular Vesicles packaging and delivery of silencing sequences to alleviate a brain disorder 27th ESACT Meeting
ESACT
2022/05/28 Extracellular Vesicles carrying engineered miRNAs alleviate Machado-Joseph Disease (MJD) ISEV2022 Annual meeting
ISEV (Lyon, France)
2022/05/13 Extracellular communication in the brain through functional transfer of Cre ExRNA 28th Porto Cancer Meeting
I3S (Porto)
2022/02 Intranasal delivery of Extracellular Vesicles carrying silencing sequences alleviates Machado-Joseph Disease (MJD) SPF2022
2022/01 Extracellular Vesicles carrying engineered miRNAs alleviate Machado- Joseph Disease (MJD) BEB Day 2022: The overview effect, 2022
2021/09 Extracellular communication mediated by EVs in mouse brain PNEV Meeting 2021, I3S, Porto, Portugal
2021/09 Extracellular vesicles: a promising delivery system for silencing sequences to treat Machado-Joseph Disease PNEV Meeting 2021, I3S, Porto, Portugal
2021/07 Endogenous striatum derived EVs distribution within the mouse brain SNEV2021
2021/05 Outreach of striatum derived EVs in the mouse brain ISEV2021
2020/02/06 Extracellular Vesicles for treatment of Machado-Joseph Disease Reunião Anual da Sociedade Portuguesa de Farmacologia
Sociedade Portuguesa de Farmacologia (Coimbra, Portugal)
2019/11/08 An extracellular vesicle-based system to deliver silencing sequences for therapy of Machado-Joseph disease/ Spinocerebellar Ataxia type-3 5th International GEIVEX 2019 Symposium
GEIVEX (Granada, Spain)
2019/02/07 Exosomes as a delivery system for miRNAs in Machado-Joseph Disease XLIX Reunião Sociedade Portuguesa de Farmacologia, XXXVII Reunião de Farmacologia Clínica, XVIII Reunião toxicologia
Sociedade Portuguesa de Farmacologia (Porto, Portugal)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2019/11/15 - 2019/11/15 1st Annual Meeting in Pharmaceutical Sciences (2019/11/15 - 2019/11/15) (2019 - 2019)
Conference (Member of the Organising Committee)
 Universidade de Coimbra Faculdade de Farmácia, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2019/09 - Current European researchers night
2019/07 - Current PubhD Coimbra
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal

Association member

Society Organization name Role
2022 - Current Portuguese Society for Neuroscience (SPN)
2021/02 - Current ISEV - International Society for Extracellular Vesicles
2019 - Current European Society for Gene and Cell Therapy (ESGCT)
2009 - Current Bombeiros Voluntários da Murtosa Volunteer
2017 - 2019 GEIVEX (Grupo Español de Investigación e Innovación en Vesículas Extracelulares)

Committee member

Activity description
Role 		Institution / Organization
2019 - 2021 CIBB PhD students representative - Innovative therapies Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
Distinctions

Award

2022 1st Prize at "InnoCore Challenge Initiative"
2022 ISEV2022 Young Investigator/Early Career Research Scholarship
2022 27th ESACT Meeting Young Investigator Scholarship
2021 FLAD PhD Mobility Scholarship
Fundação Luso-Americana, Portugal
2020 1º Prize at "Building Tomorrow Together" - Acceleration and Open Innovation Competition promoted by Roche Portugal
2019 EMBO Practical Course: Extracellular Vesicles: From Biology to Biomedical Applications - Young Investigator Scholarship
Boehringer Ingelheim Fonds, Germany
2019 VIIPtRNA2019 meeting - Young Investigator Scholarship
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2017 Poster award in III ENEBT
Universidade de Aveiro, Portugal
2017 PhD Scholarship - SFRH/BD/132618/2017
Fundação para a Ciência e a Tecnologia, Portugal
2016 Prémio 3% dos Melhores Estudantes
Universidade de Coimbra, Portugal

Other distinction

2024 Postdoctoral Fellowship
Friedreich's Ataxia Research Alliance (FARA), United States