???global.info.a_carregar???
Rute Pereira holds a degree in Biology and a master's degree in Molecular and Cellular Biology from the Faculty of Sciences of the University of Porto (FCUP). She was awarded a PhD fellowship from Fundação para a Ciência e a Tecnologia and in November 2019 concluded with distinction the PhD program in Bioengineering-Cell Therapies and Regenerative Medicine from the Instituto Superior Técnico (IST). She is an active researcher and always seeks to improve her knowledge. She performed two laboratory internships, in 2015-2016, at the Laboratory of Animal Cell Technology from iBET-Institute of Experimental Biology and Technology, where she worked with cell cultures from human cardiac stem cells (SC), fibroblasts, and human cardiomyocytes derived from induced pluripotent SC. She has participated in several courses (namely in the Course of Laboratory Animal Science) and scientific dissemination actions in several scientific meetings. During her PhD thesis, she studied the genetic etiology of primary ciliary dyskinesia (PCD). She also developed skills in bioinformatics tools to assist in the analysis of next-generation sequencing. She was awarded in 2017 with a European society of human genetics fellowship for the Course in Clinical Genomics and NGS, and in 2018 with an EMBO Travel Fellowship, to participate in EMBO Workshop Cilia. In 2019, she has been part of the staff of ICBAS rodent animal facility. Currently, she is an invited Assistant professor from the department of Microscopy from the Institute of Biomedical Sciences Abel Salazar (ICBAS)/University of Porto (UP) and performs ciliary motility external diagnostic services through High-speed video microscopy (HSVM). She was a scientific supervisor/co-supervisor of 3 graduated students and currently supervises 1 graduate student, 1 Msc and 2 PhD students. She has 17 international scientific publications and a 7 H-index. She contributed with several new mutations with total sperm immotility and with Primary ciliary dyskinesia (PCD).
Identification

Personal identification

Full name
Rute Ribeiro Pereira

Citation names

  • Pereira, Rute

Author identifiers

Ciência ID
AD1F-1CB9-0428
ORCID iD
0000-0002-8434-5086

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Upper intermediate (B2) Advanced (C1) Advanced (C1) Advanced (C1) Upper intermediate (B2)
Education
Degree Classification
2021/06 - 2021/06
Concluded
Course on Clinical Genomics and NGS (Outros)
European Society of Human Genetics, Austria
2020/10 - 2021/02
Concluded
Science communication - Life and health sciences (Diploma de especialização)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020/05 - 2020/08
Concluded
Formação Pedagógica Inicial de Formadores (Outros)
Instituto de emprego e formação profissional, Portugal
5-Excelente
2019
Concluded
Bioengenharia (Doutoramento)
Major in Especialidade: Bioengenharia - Terapias Celulares e Medicina Regenerativa
Universidade de Lisboa Instituto Superior Técnico, Portugal
"The genetics of Primary Ciliary Dyskinesia: from the flagellum to the cilium" (THESIS/DISSERTATION)
2017/05 - 2017/05
Concluded
Clinical Genomics and NGS - (Outros)
European Society of Human Genetics, Austria
2016/12 - 2016/12
Concluded
Course of Laboratory Animal Science (Curso de Especialização Tecnológica)
Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal
2016/04 - 2016/04
Concluded
Cell Respirometry: Basics and Applications (Outros)
Biocant Associação de Transferência de Tecnologia, Portugal
2016/02 - 2016/02
Concluded
From the Basics to LC-MS data acquisition and interpretation (Outros)
Universidade de Aveiro, Portugal
2014/11
Concluded
Biologia Celular e Molecular (Mestrado)
Major in Genética
Universidade do Porto Faculdade de Ciências, Portugal
"Mutation analysis of genes involved in sperm motility: A study on patients with total sperm immotility" (THESIS/DISSERTATION)
18
2012/07
Concluded
Biologia (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
15
Affiliation

Science

Category
Host institution
Employer
2017/01/01 - Current Researcher (Research) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
2016/09/01 - 2019/12/30 Researcher (Research) Universidade de Lisboa Instituto Superior Técnico, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
(...)
2015/06/01 - 2016/08/31 Research Trainee (Research) Universidade de Lisboa Instituto Superior Técnico, Portugal
Instituto de Biologia Experimental e Tecnológica, Portugal
2013/06/13 - 2014/11/30 Research Trainee (Research) Universidade do Porto Faculdade de Ciências, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
(...)
2011/06/01 - 2012/07/31 Research Trainee (Research) Universidade do Porto Faculdade de Ciências, Portugal
Universidade do Porto Centro de Investigação em Biodiversidade e Recursos Genéticos, Portugal

Teaching in Higher Education

Category
Host institution
Employer
2020/10/01 - Current Invited Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Other Careers

Category
Host institution
Employer
2019/01/01 - 2019/12/31 Assistente Técnico (Assistente Técnico) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Projects

Contract

Designation Funders
2020/01/01 - Current UMIB-BASE - Unidade Multidisciplinar de Investigação Biomédica
UIDB/00215/2020
Researcher
Fundação para a Ciência e a Tecnologia
Ongoing
2015/06 - 2016/09 iNOVA4Health - Programa de Medicina Translacional
LISBOA-01-0145-FEDER-007344
PhD Student Fellow
Concluded
2011/05/01 - 2012/06/30 PROTEÍNAS DE RECONHECIMENTO GAMÉTICO
PTDC/BIA-BEC/105221/2008
Researcher
Concluded
Outputs

Publications

Book
  1. Oliveira, J.; Pereira, R.; Santos, R.; Sousa, M.. Evaluating runs of homozygosity in exome sequencing data - Utility in disease inheritance model selection and variant filtering. 2018.
    10.1007/978-3-319-94806-5_15
Conference paper
  1. Oliveira, J.; Pereira, R.; Santos, R.; Sousa, M.. "Homozygosity mapping using whole-exome sequencing: A valuable approach for pathogenic variant identification in genetic diseases". 2017.
Journal article
  1. Maria Rita Ribeiro; Ana Margarida Calado; Ângela Alves; Rute Pereira; Mário Sousa; Rosália Sá. "Spatial Distribution of SARS-CoV-2 Receptors and Proteases in Testicular Cells". Journal of Histochemistry & Cytochemistry (2023): https://doi.org/10.1369/00221554231168916.
    10.1369/00221554231168916
  2. R. Pereira; V. Carvalho; C. Dias; T. Barbosa; J. Oliveira; Â. Alves; E. Oliveira; R. Sá; M. Sousa. "Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility". Journal of Assisted Reproduction and Genetics (2023): https://doi.org/10.1007/s10815-023-02755-6.
    10.1007/s10815-023-02755-6
  3. Eduarda Milheiro Tinoco; Ana Rita Gigante; Edite Ferreira; Inês Sanches; Rute Pereira; Rosália Sá; Regina Monteiro; Mário Sousa; Ivone Pascoal. "Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic". Genes (2023): https://doi.org/10.3390/genes14030541.
    10.3390/genes14030541
  4. Rute Pereira; Mário Sousa. "Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum". Genes (2023): https://doi.org/10.3390/genes14020383.
    10.3390/genes14020383
  5. Rute Pereira; Telma Barbosa; Ana Lúcia Cardoso; Rosália Sá; Mário Sousa. "Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences". Respiratory Medicine (2023): https://doi.org/10.1016/j.rmed.2023.107169.
    10.1016/j.rmed.2023.107169
  6. Carolina Silva; Paulo Viana; Alberto Barros; Rosália Sá; Mário Sousa; Rute Pereira. "Further Insights on RNA Expression and Sperm Motility". Genes (2022): https://doi.org/10.3390/genes13071291.
    10.3390/genes13071291
  7. Rute Pereira; Telma Barbosa; Ângela Alves; Rosário Santos; Jorge Oliveira; Mário Sousa. "Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough". Advances in Medical Sciences 65 1 (2020): 1-11. https://doi.org/10.1016%2Fj.advms.2019.10.003.
    10.1016/j.advms.2019.10.003
  8. Rute Pereira; Jorge Oliveira; Mário Sousa. "Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics". Journal of Clinical Medicine 9 1 (2020): 132-132. https://doi.org/10.3390/jcm9010132.
    10.3390/jcm9010132
  9. R. Pereira; M. E. Oliveira; R. Santos; E. Oliveira; T. Barbosa; T. Santos; P. Gonçalves; et al. "Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction". Journal of Assisted Reproduction and Genetics 36 8 (2019): 1683-1700. https://doi.org/10.1007/s10815-019-01509-7.
    10.1007/s10815-019-01509-7
  10. Rute Pereira; Telma Barbosa; Luís Gales; Elsa Oliveira; Rosário Santos; Jorge Oliveira; Mário Sousa. "Clinical and Genetic Analysis of Children with Kartagener Syndrome". Cells (2019): https://doi.org/10.3390/cells8080900.
    10.3390/cells8080900
  11. Maria J. Sebastião; Margarida Serra; Rute Pereira; Itziar Palacios; Patrícia Gomes-Alves; Paula M. Alves. "Human cardiac progenitor cell activation and regeneration mechanisms: exploring a novel myocardial ischemia/reperfusion in vitro model". Stem Cell Research & Therapy 10 1 (2019): https://doi.org/10.1186%2Fs13287-019-1174-4.
    10.1186/s13287-019-1174-4
  12. Jéssica Costa; Rute Pereira; Jorge Oliveira; Ângela Alves; Ângela Marques-Magalhães; Amaro Frutuoso; Carla Leal; et al. "Structural and molecular analysis of the cancer prostate cell line PC3: Oocyte zona pellucida glycoproteins". Tissue and Cell 55 (2018): 91-106. https://doi.org/10.1016/j.tice.2018.11.001.
    10.1016/j.tice.2018.11.001
  13. Sebastião MJ; Pereira R; Serra M; Gomes-Alves P; Alves PM. "Unveiling Human Cardiac Fibroblast Membrane Proteome.". Proteomics (2018): http://europepmc.org/abstract/med/29696784.
    10.1002/pmic.201700446
  14. Sebastiao, M J; Pereira, R; Serra, M; Gomes-Alves, P; Alves, P M. "P466A step closer to disclose human cardiac fibroblasts molecular profile". Cardiovascular Research 114 suppl_1 (2018): S112-S113. http://dx.doi.org/10.1093/cvr/cvy060.325.
    10.1093/cvr/cvy060.325
  15. Pereira, R.; Sá, R.; Barros, A.; Sousa, M.. "Major regulatory mechanisms involved in sperm motility". Asian Journal of Andrology 19 1 (2017): 5-14. http://www.scopus.com/inward/record.url?eid=2-s2.0-85008657990&partnerID=MN8TOARS.
    10.4103/1008-682X.167716
  16. Sebastião, Maria J; Serra, Margarida; Pereira, Rute; Brito, Catarina; Palacios, Itziar; Gomes-Alves, Patrícia; Alves, Paula M. "Abstract 450: Unveiling Human Cardiac Stem Cells Role in Myocardial Ischemia-reperfusion Injury". Circulation Research 119 suppl_1 (2016): http://dx.doi.org/10.1161/res.119.suppl_1.450.
    10.1161/res.119.suppl_1.450
  17. Rute Pereira; Mário Sousa. "NGS and Male Infertility: Biomarkers Wanted". Annual Research & Review in Biology 8 5 (2015): 1-4. https://doi.org/10.9734%2Farrb%2F2015%2F20263.
    10.9734/arrb/2015/20263
  18. Pereira, R.; Oliveira, J.; Ferraz, L.; Barros, A.; Santos, R.; Sousa, M.. "Mutation analysis in patients with total sperm immotility". Journal of Assisted Reproduction and Genetics 32 6 (2015): 893-902. http://www.scopus.com/inward/record.url?eid=2-s2.0-84943360877&partnerID=MN8TOARS.
    10.1007/s10815-015-0474-6
  19. Sá-Pinto, A.; Martínez-Fernández, M.; López-Fernández, C.; Ferreira, Z.; Pereira, R.; Gosálvez, J.; Rolán-Alvarez, E.. "Incipient post-zygotic barrier in a model system of ecological speciation with gene flow". Journal of Evolutionary Biology 26 12 (2013): 2750-2756. http://www.scopus.com/inward/record.url?eid=2-s2.0-84888044721&partnerID=MN8TOARS.
    10.1111/jeb.12269
Thesis / Dissertation
  1. Rute Ribeiro Pereira. "Mutation analysis of genes involved in sperm motility: A study on patients with total sperm immotility". Master, 2014. https://repositorio-aberto.up.pt/handle/10216/77184.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2020/11 “Novo modelo explicativo para a Discinésia Ciliar Primária” 36th Congress of Pneumology (Online meeting):
Sociedade Portuguesa Pneumonologia (Portugal)
2018/06 Discovery of new genetic defects causing rare diseases Science and Technology in Portugal Summit (FCT)
Fundação para Ciência e Tecnologia (Portugal)
2017/02 Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases 10th International Joint Conference on Biomedical Engineering Systems and Technologies
Sistemas e Tecnologias de Engenharia Biomédica - BIOSTEC (Portugal)

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2023/01/01 - 2027/01/01 Understanding the genetic and mechanistic etiology of patients with primary ciliary dyskinesia and infertility
Supervisor
Doctoral Programme in Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023/09/01 - 2024/09/30 Characterization of the relationship between male fertility and the protein distribution and quantity of axonemal markers in infertile male patients.
Supervisor
Bioquímica em Saúde (Master)
Escola Superior de Saúde do Politécnico do Porto, Portugal
2021/01 - 2024/01 Chronic rhinosinusitis and motility ciliary disorders: clinical assessment and treatment
Co-supervisor
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022/09/05 - 2023/06/30 Functional characterization of pathogenic variants in patients with Primary Ciliary Dyskinesia
Supervisor
Bioquímica (Degree)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021/09 - 2022/07 RNA and spermatozoa motility: what is the relation?
Supervisor
Mestrado em Investigação Biomédica (Master)
Faculdade de Ciências da Universidade de Coimbra , Portugal
2021/09 - 2022/07 Analysis of clinical and morphometric data of patients with Primary Ciliary Dyskinesia
Co-supervisor
Biologia (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2020/09/01 - 2021/07/15 Identification of pathogenic variants and their expression in a female patient with Primary Ciliary Dyskinesia
Supervisor
Biologia (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2021/02 - 2021/02 Bioinformatic Identification of Pathogenic Variants in Two Patients with Primary Ciliary Dyskinesia after Whole Exome Sequencing
Supervisor
Mestrado em Investigação Biomédica (Other)
Faculdade de Ciências da Universidade de Coimbra , Portugal

Event participation

Activity description
Type of event
Event name
Institution / Organization
2022/10/04 - 2022/10/07 Poster presenter at 5th EUROPEAN CILIA CONFERENCE” – Colone, Germany, October 2022 R. Pereira, V. Carvalho, C. Dias, T. Barbosa, J. Oliveira, Ä. Alves, E. Oliveira, R. Sá, M. Sousa. Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertility
Conference
5th EUROPEAN CILIA CONFERENCE
2021/09/15 - 2021/09/17 EMBL Virtual Symposium: Multiomics to Mechanisms - Challenges in Data Integration
Conference
EMBL Virtual Symposium: Multiomics to Mechanisms - Challenges in Data Integration
EMBL Hamburg, Germany
2018/10 - 2018/10 Poster presentation in EMBO Workshop Cilia 2018, Copenhagen, Denmark
Conference
EMBO Workshop Cilia 2018
2018/03 - 2018/03 Genetic Diversity in Structure and Regulation - 18th edition of Portugaliae Genetica, I3S, Porto, Portugal
Conference
18th edition of Portugaliae Genetica,
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Jury of academic degree

Topic
Role
Candidate name (Type of degree)
Institution / Organization
2021/07/21 Evaluation of semen parameters from 40 infertile male patients
(Thesis) Main arguer
Margarida Ione da Silva Andrade (Other)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Committee member

Activity description
Role
Institution / Organization
2022/12/22 - 2022/12/22 Vogal na prova de ano probatório do doutorando Dr. Tiago Soares Santos
Member

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2020/09 - Current Biologia Celular Medicina Veterinária (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020/09 - Current Biologia Celular e Molecular I Medicina Dentária (Mestrado integrado) Universidade do Porto Faculdade de Medicina Dentária, Portugal
Distinctions

Award

2021 Outstanding Reviewer Award
Asian Journal of Andrology , China
2018 Asian Journal of Andrology Outstanding Paper Award 2018
Asian Journal of Andrology , China
2018 EMBO Travel Fellowship
EMBO Press, Germany
2017 ESHG fellowship for the Course in Clinical Genomics and NGS
European Society of Human Genetics, Austria