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Profile Details
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Hire Rui M.
Portugal

Postdoctoral fellow of Biomedicine at UMCG and UA | Expert in genomic, transcriptomic, proteomic and epigenetics

Profile Summary
Subject Matter Expertise
Services
Writing Medical Writing
Research Scientific and Technical Research
Consulting Scientific and Technical Consulting
Data & AI Predictive Modeling, Statistical Analysis, Image Analysis, Algorithm Design-Non ML, Algorithm Design-ML, Data Visualization, Big Data Analytics, Data Mining
Work Experience

Postdoctoral researcher

University of Aveiro

March 2026 - February 2028

Postdoctoral researcher

UMCG

March 2026 - February 2028

PhD student

University of Aveiro

October 2020 - October 2025

Researcher

Universidade de Aveiro Escola Superior de Saúde de Aveiro

February 2019 - October 2020

Education

Doctorate in Biomedicine (Department of Medical Sciences)

University of Aveiro

October 2020 - October 2025

Doctorate in Medical Sciences (Department of Pulmonary Diseases)

University of Groningen

October 2020 - October 2025

MSc. in Molecular Biomedicine (Medical Science)

Universidade de Aveiro

September 2016 - December 2018

Biologist (Life Science)

Universidade de Coimbra Faculdade de Ciencias e Tecnologia

September 2012 - July 2016

Certifications
  • Doctorate

    University Medical Center Groningen

    October 2025 - Present

  • Doctorate

    University of Aveiro

    October 2025 - Present

Publications
JOURNAL ARTICLE
Rui Marçalo, Corry-Anke Brandsma, Peter J. van der Most, Alda Marques, Gabriela R. Moura, Maarten van den Berge, Judith M. Vonk, Maaike de Vries (2026). Genetic variants underpinning lung function decline in the Lifelines general population cohort study . ERJ Open Research.
et al., Rui Marçalo, Guilherme Rodrigues, Miguel Pinheiro, Sonya Neto, Sofia L Marques, Paula Simão, Vitória Martins, Lília Andrade, Maria Aurora Mendes, Manuel Santos (2025). Functional impairment in COPD can be predicted using genomic-derived data . Thorax.
Functional impairment in COPD can be predicted using genomic-derived data @article{2fc9591aa651485a8d0299aa3b260079, title = "Functional impairment in COPD can be predicted using genomic-derived data", abstract = "Objective: Reduced functional capacity and muscle weakness are two major contributors to functional impairment in chronic obstructive pulmonary disease (COPD). The underlying causes of functional impairment are poorly understood and, therefore, we sought to investigate the contribution of genetic factors. Methods: We conducted a cross-sectional analysis of sociodemographic, clinical and genetic information of people with COPD. Hierarchical clustering based on functional capacity (6-minute walk test and 1-minute sit-to-stand test) and muscle strength (quadriceps isometric muscle strength and handgrip muscle strength) was performed. A genome-wide association study (GWAS) was performed using cluster assignment as phenotype. Polygenic risk scores (PRSs) were calculated for each variable. Genomic-derived data was used to construct a model to predict functional impairment. Results: Two clusters were identified among 245 individuals. Cluster 1 (n=104) was composed of younger, less symptomatic patients, with preserved functional capacity and muscle strength, whereas cluster 2 (n=141) included those older, more symptomatic, with reduced functional capacity and muscle weakness. GWAS identified two polymorphisms suggestively associated with functional impairment, mapped to xanthine dehydrogenase. Cluster 2 was enriched in individuals with risk alleles for rs1991541 and rs10524730, and lower PRSs for functional capacity and muscle strength. A prediction model using genomic-derived data was constructed (n=159) and tested (n=37), yielding an area under the curve of 0.87 (0.76-0.99). Conclusion: Genetic factors are significantly associated with functional impairment in COPD. The incorporation of genetic information, particularly PRSs, into a predictive model offers a promising avenue for timely identifying individuals at greater risk of functional decline, potentially facilitating personalised and preventive interventions. Further studies on independent external cohorts are needed to validate our model.", keywords = "Exercise, Pulmonary Disease, Chronic Obstructive, Pulmonary Rehabilitation", author = "Rui Mar{\c c}alo and Guilherme Rodrigues and Miguel Pinheiro and Sonya Neto and Marques, \{Sofia L.\} and Paula Sim{\~a}o and Vit{\'o}ria Martins and L{\'i}lia Andrade and Mendes, \{Maria Aurora\} and Manuel Santos and Vera Afreixo and Alda Marques and Gabriela Moura", note = "Publisher Copyright: {\textcopyright} Author(s) (or their employer(s)) 2025.", year = "2025", month = apr, day = "15", doi = "10.1136/thorax-2024-222142", language = "English", volume = "80", journal = "Thorax", issn = "0040-6376", publisher = "BMJ Publishing Group", number = "5", } . Thorax.
Sara Cuevas Ocaña, Pauline Bardin, Rui Marçalo, Heleen Demeyer (2023). Preview of the Lung Science Conference 2024 . Breathe.
Tânia Soares Martins, Rui Marçalo, Cristóvão B. da Cruz e Silva, Dário Trindade, José Catita, Francisco Amado, Tânia Melo, Ilka Martins Rosa, Jonathan Vogelgsang, Jens Wiltfang, et al.(2022). Novel Exosome Biomarker Candidates for Alzheimer’s Disease Unravelled Through Mass Spectrometry Analysis . Molecular Neurobiology. 59. (5). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 2838--2854. Springer Science and Business Media {LLC}
Rui Marçalo, Yan-Ming Xu, Sonya Neto, Miguel Pinheiro, Ana J. Rodrigues, Nuno Sousa, Manuel A. S. Santos, Paula Simão, Carla Valente, Lília Andrade, et al. (2022). Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations . PLOS ONE.
Tânia Soares Martins, Rui Marçalo, Maria Ferreira, Margarida Vaz, Raquel M. Silva, Ilka Martins Rosa, Jonathan Vogelgsang, Jens Wiltfang, Odete A. B. da Cruz e Silva, Ana Gabriela Henriques (2021). Exosomal Aβ-Binding Proteins Identified by “In Silico” Analysis Represent Putative Blood-Derived Biomarker Candidates for Alzheimer´s Disease . International Journal of Molecular Sciences.
Tânia Soares Martins, Rui Marçalo, Maria Ferreira, Margarida Vaz, Raquel M. Silva, Ilka Martins Rosa, Jonathan Vogelgsang, Jens Wiltfang, Odete A.B. da Cruz e Silva, Ana Gabriela Henriques (2021). Exosomal Aβ-Binding Proteins Identified by “In Silico” Analysis Represent Putative Blood-Derived Biomarker Candidates for Alzheimer´s Disease . International Journal of Molecular Sciences.
PREPRINT
Rui Marçalo, Guilherme Rodrigues, Cíntia Dias, Ana Sofia Grave, Raquel Vilar Marinho, Miguel Pinheiro, Sonya Neto, Stephanie Holum, Ana Rita Guimarães, Sofia Lucília Marques, et al. (2026). Genome-wide association study of extrapulmonary traits in the context of COPD .
Rui Marçalo, Alen Faiz, Orestes A. Carpaij, Tatiana Karp, Jeunard Boekhoudt, Avrum Spira, Judith M. Vonk, Wim Timens, Hubertus A. M. Kerstjens, Gaik W. Tew, et al. (2025). Bronchial gene expression clustering in COPD identifies a subgroup of patients with higher level of bronchial T-cells and accelerated lung function decline .
CONFERENCE ABSTRACT
Nasal epithelial gene expression data improves the prediction of asthma exacerbations @inproceedings { author = {Marçalo, Rui}, title = {Nasal epithelial gene expression data improves the prediction of asthma exacerbations}, address = {Vienne}, year = {2024} }. ERS International Congress 2024.
GWAS and PRS studies of human diseases: perspectives and limitations @inproceedings { author = {Neves, Vasco and Sonya Neto and Marçalo, Rui and Thaís Córdova and Manuel A. S. Santos and Moura, Gabriela}, title = {GWAS and PRS studies of human diseases: perspectives and limitations}, address = {Évora}, pages = {129}, year = {2023}, keywords = {Bioinformática; Genética; Ciências Médicas; PRS} }. III International Meeting of the Portuguese Society of Genetics.
Exploring functional status in COPD: A combination of statistical and genomic approaches towards understanding functional status in COPD @inproceedings { author = {Marçalo, Rui and Rodrigues, Guilherme and Marques, Alda and Moura, Gabriela}, title = {Exploring functional status in COPD: A combination of statistical and genomic approaches towards understanding functional status in COPD}, year = {2022} }. Scientific Advisory Board Meeting, Institute of Biomedicine (iBiMED).
Impact of genetic background on the poor prognosis of people with COPD upon COVID-19 infection and high heterogeneity among worldwide populations @inproceedings { author = {Marçalo, Rui and Marques, Alda and Moura, Gabriela}, title = {Impact of genetic background on the poor prognosis of people with COPD upon COVID-19 infection and high heterogeneity among worldwide populations}, year = {2022} }. Research Summit 2022, University Aveiro.
Intensity and safety of community-based physical activities for people with COPD @inproceedings { author = {Rebelo, Patrícia and Rodrigues, Guilherme and Cíntia Dias and Grave, Ana and Paixão, Cátia and Machado, Ana Filipa and Oliveira, Ana and et al.}, title = {Intensity and safety of community-based physical activities for people with COPD}, year = {2022} }. Scientific Advisory Board Meeting, Institute of Biomedicine (iBiMED).
CONFERENCE POSTER
Deciphering COPD as a risk group for COVID-19: can we blame genetics? @misc { author = {Marçalo, Rui and Neto, Sonya and Pinheiro, Miguel and Rodrigues, Ana and Sousa, Nuno and Santos, Manuel and Simão, Paula and et al. Corresponding author: Marçalo, Rui.}, title = {Deciphering COPD as a risk group for COVID-19: can we blame genetics?}, year = {2021}, month = {nov} }. 25th ANNUAL MEETING SPGH.
The worldwide covid-19 genetic risk scenario @misc { author = {Marçalo, Rui and Neto, Sonya and Pinheiro, Miguel and Rodrigues, Ana and Sousa, Nuno and Santos, Manuel and Simão, Paula and et al. Autor correspondente: Marçalo, Rui.}, title = {The worldwide covid-19 genetic risk scenario}, year = {2021}, month = {sep} }. ERS International Congress 2021.
Genetic risk for covid-19 outcomes in COPD @misc { author = {Marçalo, Rui and Neto, Sonya and Pinheiro, Miguel and Rodrigues, Ana and Sousa, Nuno and Santos, Manuel and Simão, Paula and et al. Corresponding author: Marçalo, Rui.}, title = {Genetic risk for covid-19 outcomes in COPD}, year = {2021}, month = {sep} }. ERS International Congress 2021.
COPD as a COVID-19 risk group: Is genetic background the reason? @misc { author = {Marçalo, Rui and Neto, Sonya and Pinheiro, Miguel and Rodrigues, Ana and Sousa, Nuno and Santos, Manuel and Simão, Paula and et al.}, title = {COPD as a COVID-19 risk group: Is genetic background the reason?}, year = {2021}, month = {jul}, keywords = {COPD; Genetics} }. GenomePT Symposium 2021.
Genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations @misc { author = {Marçalo, Rui and Neto, Sonya and Pinheiro, Miguel and Rodrigues, Ana João and Sousa, Nuno and Santos, Manuel António da Silva and Simão, Paula and et al.}, title = {Genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations}, year = {2021}, month = {may}, keywords = {Genetics; COPD} }. Bioinformatic Open Days.
Blood-derived exosomal biomarkers for Alzheimer's Disease @misc { author = {Marçalo, Rui}, title = {Blood-derived exosomal biomarkers for Alzheimer's Disease}, year = {2019}, month = {mar} }. 14th International Conference on Alzheimer's & Parkinson's Diseases.
NEWSPAPER ARTICLE