Silhueta de pessoa indiferenciada
Professor auxiliar
Faculdade de Medicina e Ciências Biomédicas
Subsistema
Docentes Universitário
Regime
Tempo integral
Vínculo
CT em Funções Públicas a termo resolutivo certo
I hold a Ph.D. in Biomedical Sciences – Genetics from the Faculty of Medicine of the University of Lisbon and have 17 years of research experience in the genetics of complex diseases, with the last 10 years focused on cancer genomics. My career has been driven by a passion for unraveling the mysteries of genetic inheritance and its impact on human health. Throughout my research journey, I have been involved in cutting-edge investigations, making significant contributions to the scientific community with 18 peer-reviewed publications. As a co-inventor of eight patents currently under evaluation, I have demonstrated my ability to develop innovative solutions that address critical challenges in the field of Cancer Genetics. During my scientific career, I have participated in eight projects funded through competitive grants and secured funding as Principal Investigator (PI) for two projects funded by the Portuguese Foundation for Science and Technology (FCT), in collaboration with international teams. I am currently co-supervising a Ph.D. student, have previously supervised a postdoctoral researcher, and have mentored or co-supervised five Master’s students and seven undergraduate students. Additionally, I have lectured and served as coordinator/co-coordinator of the Oncogenetics & Oncogenomics and Clinical Oncology courses (Master’s in Oncobiology), as well as Human Genetics (Bachelor’s in Biomedical Sciences). Since 2023, I have also been delivering seminars to students in the Integrated Master’s in Medicine program. My cancer research integrates genomic, transcriptomic, and epigenomic data, leveraging bioinformatics and computational biology tools to explore the role of allelic expression imbalances in cancer risk and clinical outcomes. I have extensive expertise in next-generation sequencing (NGS) data analysis, gene expression analysis, and the functional characterization of risk variants, both in silico and in vitro. Additionally, I have a strong background in laboratory techniques, including genotyping and real-time PCR. My expertise bridges cutting-edge experimental laboratory work with advanced computational data analysis, providing a comprehensive understanding of complex biological processes. In 2022, I co-founded expressTEC, a UAlg spin-off, where I actively contribute to the company's success by overseeing the implementation of its scientific strategy. In 2024, I was part of the scientific committee that brought the International Conference of the Portuguese Association for Cancer Research (ASPIC) to the University of Algarve and Faro for the first time. I am also a member of the Scientific Committee of the Portuguese Society of Human Genetics (SPGH). Since August 2024, I have been serving as the Scientific Coordinator of CINTESIS at the University of Algarve (UAlg), overseeing research activities and fostering scientific collaboration.

Atividades

Atividades
2024/10/30 - Presente. Curso / Disciplina lecionado. Lecture on Genes and Gene Transcription. Mestrado Integrado em Medicina (Mestrado integrado). Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2024/04/22 - Presente. Curso / Disciplina lecionado. Oncologia Clínica. Oncobiologia - Mecanismos Moleculares do Cancro (Mestrado). Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2024/01/01 - Presente. Orientação. Unveiling the clinical significance of allelic expression imbalance of PIK3CA mutations in treatment response in colorectal cancer.Ciências Biomédicas (Doutoramento). Coorientador.
2024/01/01 - Presente. Membro de comissão. Member of the PhD advisory committee of the PhD student Joana Maria Martins Ribeiro. Thesis title: Immunological profiling in transcriptomic data of sentinel lymph nodes from patients with Luminal A breast cancer. PhD in Ciências da Saúde, Faculdade de Medicina da Universidade de Coimbra. Membro. Universidade de Coimbra Faculdade de Medicina.
2023/11/17 - Presente. Arbitragem científica em conferência. 3rd Symposium GenomePT, Lisbon, Portugal. GenomePT.
2023/09/18 - Presente. Curso / Disciplina lecionado. Lecture on DNA e Estrutura Cromossómica. Mestrado Integrado em Medicina (Mestrado integrado). Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2023/03/28 - Presente. Curso / Disciplina lecionado. Lecture of Genetics of Cystic Fibrosis. Mestrado Integrado em Medicina (Mestrado integrado). Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2021/05/01 - Presente. Membro de comissão. Member of the coordination committee of the UAlg V+ Group (Volunteering Group from the University of Algarve) as Faculty of Medicine and Biomedical Sciences (FMCB) representative. Membro. Universidade do Algarve.
2020/10/06 - Presente. Curso / Disciplina lecionado. Oncogenética e Oncogenómica. Oncobiologia - Mecanismos Moleculares do Cancro (Mestrado). Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2019/12/09 - Presente. Arbitragem científica em revista. BMC Bioinformatics (1471-2105). Springer (Biomed Central Ltd.).
2017/11/01 - Presente. Curso / Disciplina lecionado. Genética Humana. Ciências Biomédicas (Licenciatura). Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2023/02/17 - 2033/02/18. Participação em evento. Participation in Women in Tech Algarve Summit as expressTEC co-founder. expressTEC won the startups pitch competition.. Simpósio. Women in Tech Algarve Summit.
2024/02/01 - 2028/01/31. Membro de comissão. Member of the Scientific committee of the Portuguese Society of Human Genetics. Membro. Sociedade Portuguesa de Genética Humana.
2023/01/26. Apresentação oral de trabalho. Genetic Risk for Breast Cancer and the Role of Gene Expression Regulatory Variants. Sessions “Geneticamente falando”. Portuguese Society of Genetics (SPG) (Portugal).
2024/09/15 - 2025/02/19. Tutoria. Research fellow with MSc hired under project 2022.02380.PTDC - PLEIREG - Exploring the shared regulatory genetic basis in cancer risk. Letícia Leite.
2024/12/05 - 2024/12/07. Participação em evento. Participation in the 28th Annual Meeting of the Portuguese Society of Human Genetics as Chair of Invited Symposium III: Cancer Genetics and as attendee . Conferência. 28th Annual Meeting of the Portuguese Society of Human Genetics. Sociedade Portuguesa de Genética Humana.
2024/12/05 - 2024/12/07. Arbitragem científica em conferência. 28th SPGH Annual Meeting. Sociedade Portuguesa de Genética Humana.
2024/02/01 - 2024/12/07. Organização de evento. Organization of the 28th Annual Meeting of the Portuguese Society of Human Genetics (SPGH) (2024). Sociedade Portuguesa de Genética Humana.
2024/12/02. Júri de grau académico. Evaluator of PhD Thesis Project Proposal: Immune profiling of sentinel lymph node microenvironment using transcriptomic data in Luminal A breast cancer. Arguente. Joana Maria Martins Ribeiro (Doutoramento). Universidade de Coimbra Faculdade de Medicina.
2024/11/15 - 2024/11/15. Participação em evento. Community Engagement – SheSapiens Breakfast, Portugal Tech Week. Participated as an invited guest to inspire and connect female founders in tech. Discussed challenges and opportunities in Health Tech entrepreneurship.. Outro. SheSapiens Breakfast, Portugal Tech Week..
2024/11/11 - 2024/11/14. Participação em evento. Participation in the Web Summit as Startup exhibitor . Exposição. Web Summit.
2024/10/23 - 2024/10/23. Participação em evento. Participated in RISE Day 2024 as integrated member of RISE, Coordinator of CINTESIS-UAlg, and Q&A Moderator for the Clinical and Translational Research in Oncology session.. Encontro. RISE Day - The Societal Impact of Clinical Research. RISE - Rede de Investigação em Saúde; Instituto Português de Oncologia do Porto Francisco Gentil Centro de Investigação.
2024/10/23 - 2024/10/23. Participação em evento. Participation in the RISE Day (2024) as scientific coordinator of CINTESIS-UAlg and integrated member of RISE. Simpósio. RISE Day: Clinical Research for a Healthier Future . RISE - Rede de Investigação em Saúde.
2024/10/18 - 2024/10/19. Participação em evento. Participation in Algarve Tech Hub Summit as speaker in the Startup Showcase. Exposição. Algarve Tech Hub Summit. Universidade do Algarve.
2023/09/01 - 2024/09/30. Orientação. PLCy1: Tumor supressor or oncogene in triple negative breast cancer..Oncobiologia - Mecanismos Moleculares do Cancro (Mestrado). Coorientador.
2023/01/20 - 2023/01/20. Participação em evento. Scientific Meeting between researchers of RISE to strength colaborations. Encontro. 1st Scientific Meeting of RISE. RISE - Rede de Investigação em Saúde; Centro de Investigação em Tecnologias e Serviços de Saúde.
2024/03/01 - 2024/07/31. Tutoria. Research fellow with MSc hired under project 2022.02380.PTDC - PLEIREG - Exploring the shared regulatory genetic basis in cancer risk. Nélson Martins.
2024/04/29 - 2024/04/30. Arbitragem científica em conferência. 6th ASPIC International Congress, Faro, Portugal. Associação Portuguesa de Investigadores em Cancro (ASPIC).
2024/04/29 - 2024/04/30. Participação em evento. Participation in the 6th Portuguese Society of Cancer Researchers (ASPIC) International Congress as attendee and chair of the Tumour Genomics & Evolution Symposium. Congresso. 6th ASPIC International Congress, Faro, Portugal. Associação Portuguesa de Investigação em Cancro; Universidade do Algarve; Centro de Investigação em Tecnologias e Serviços de Saúde.
2023/05/01 - 2024/04/30. Organização de evento. Organization of the 6th ASPIC International Congress, Faro, Portugal (2024). Associação Portuguesa de Investigação em Cancro; Universidade do Algarve; Centro de Investigação em Tecnologias e Serviços de Saúde.
2024/04/05. Júri de grau académico. PhD dissertation: THE PRIMARY GENETIC CAUSE AND BEYOND: LIFETIME RISK AND PHENOTYPE MODIFERS IN HDGC. Arguente principal. Ana Rita Barbosa Matos (Doutoramento). Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar.
2023/05/03 - 2023/12/31. Tutoria. Research fellow with MSc hired under project 2022.02380.PTDC - PLEIREG - Exploring the shared regulatory genetic basis in cancer risk. André Besouro-Duarte.
2020/12/15 - 2023/12/16. Outro júri / avaliação. Evaluator of PhD Student's in Biomedical Sciences Presentations at the Annual Presentations of the PhD student's. Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2023/09/01 - 2023/11/30. Membro de comissão. Member of the Master in Oncobiology coordinator committee. Membro. Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2023/11/15 - 2023/11/17. Participação em evento. Participation in the EMBL Conference: Cancer Genomics as attendee. Conferência. EMBL Conference: Cancer Genomics. European Bioinformatics Institute; European Molecular Biology Laboratory.
2023/10/25 - 2023/10/25. Participação em evento. Participation in the RISE Day (2023) as integrated member of RISE and CINTESIS. Encontro. RISE Day - The Societal Impact of Clinical Research. RISE - Health Research Network: From Lab to Community Health.
2023/07/20. Júri de grau académico. BSc Project: Methylation Changes of Complement Genes during Neuronal Differentiation - a Data Mining Approach. Arguente principal. Ana Lúcia Leal (Outro). Universidade do Algarve.
2023/03/15 - 2023/06/30. Orientação. Analysis of Allele-Specific Gene Expression Regulation at breast cancer risk loci.Ciências Biomédicas (Licenciatura/Bacharelato). Orientador.
2023/03/01 - 2023/06/30. Orientação. Analysis of Allele-Specific Gene Expression Regulation at breast cancer risk loci..Ciências Biomédicas (Licenciatura/Bacharelato). Orientador.
2020/07/01 - 2023/06/30. Tutoria. PhD Investigator hired by INTERGEN project - Innovating breast cancer GWAS through inTEgRation of functional GENomics. Marinella Ghezzo .
2023/05/29 - 2023/05/29. Participação em evento. Outreach activity – Invited speaker at Escola Secundária de Albufeira, Portugal. Discussed my journey: from a biology student to a scientist and entrepreneur. Outro.
2021/01/26 - 2021/01/28. Participação em evento. Ensembl Browser Workshop. Oficina (workshop). Ensembl Browser Workshop. European Bioinformatics Institute.
2023/03/29 - 2023/03/29. Participação em evento. Participation as an exhibitor (representative of expressTEC) in TECH4INNOV: the Present and the Future of Innovation, promoted by ANI.. Exposição. TECH4INNOV: the Present and the Future of Innovation. Agência Nacional de Inovação SA.
2022/07/25 - 2023/03/27. Tutoria. MSc Researcher hired by INTERGEN project - Innovating breast cancer GWAS through inTEgRation of functional GENomics. André Duarte.
2023/03/22 - 2023/03/22. Participação em evento. Participation IN TECH Algarve - Conversation with Technology, dedicated to the topic of Knowledge Transfer, at UAlg TEC CAMPUS.. IN TECH Algarve - Conversation with Technology, dedicated to the topic of Knowledge Transfer.. UAlg Tec Campus.
2020/09/06 - 2023/03/08. Orientação. Study of the association of Allelic Expression (AE) ratios with BC clinical features .Oncobiologia - Mecanismos Moleculares do Cancro (Mestrado). Orientador.
2022/11/09 - 2023/02/16. Participação em evento. Participation in Born from Knowledge (Bfk)-RISE (Science and Technology Acceleration Program to enhance the results of Research & Development (R&D) and existing technologies in the National Scientific and Technological System with commercialization potential, through monitoring and intensive training of teams). Concurso. Born from Knowledge (Bfk)-RISE. Agência Nacional de Inovação SA.
2023/01/23 - 2023/02/03. Tutoria. Analysis of regulation of alternative transcription by candidate risk regulatory variants at breast cancer risk loci. Beatriz Fernandes Carrasqueiro.
2022/10/01 - 2023/02/01. Participação em evento. Participation in Go-SME project (Programme that selects the most promising early-stage innovation projects of start-ups and highly innovative SMEs with international ambitions to turn strong, innovative business ideas into winners on the market). Concurso. Go-SME project . Agência Nacional de Inovação SA.
2023 - 2023. Orientação. STUDY OF THE ASSOCIATION OF DIFFERENTIAL ALLELIC EXPRESSION WITH BREAST CANCER CLINICAL FEATURES.Oncobiologia - Mecanismos Moleculares do Cancro (Mestrado). Orientador.
2023. Júri de grau académico. MSc Dissertation: Penetrance estimation and clinical, demographic and genetic characterization of HDGC families sharing a founder variant followed at Centro Hospitalar Universitario São João (CHUSJ). Arguente principal. João Abel Rainho Fonseca (Mestrado). Universidade do Porto Faculdade de Medicina.
2023. Júri de grau académico. MSc Dissertation: Engineering immunotherapies for thyroid cancer. Presidente do júri. FRANCISCA BORGES DIAS MONTEIRO DA SILVA (Mestrado). Universidade do Algarve.
2022/07/21. Júri de grau académico. BSc project: Influência do ferro na doença de Alzheimer. Arguente principal. André Fialho Ferreira (Outro). Universidade do Algarve.
2022/06/30 - 2022/07/01. Participação em evento. Participation in the 5th (Portuguese Association of Cancer Researcher's) ASPIC International Congress as attendee. Congresso. 5th ASPIC International Congress. Associação Portuguesa de Investigação em Cancro.
2022/05/01 - 2022/06/30. Orientação. Avaliação de moduladores genéticos de splicing associados a risco de cancro da mama.Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2022/05/01 - 2022/06/30. Orientação. Análise Funcional de variantes de risco para cancro da mama associadas ao splicing alternativo.Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2022/03/15 - 2022/06/30. Orientação. Evaluation of genetic modulators of splicing associated with breast cancer risk..Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2022/03/15 - 2022/06/30. Orientação. Functional analysis of breast cancer risk variants associated with alternative splicing.Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2022/04/01 - 2022/05/07. Orientação. Identification and characterization of new loci involved in breast cancer risk.Mestrado Integrado em Medicina da UAlg (5-weeks laboratory internships) (Outra). Coorientador.
2022/04/01 - 2022/05/07. Orientação. Identification and Characterisation of Cis-Regulatory Loci involved in Breast Cancer Risk.Mestrado Integrado em Medicina da UAlg (5-weeks laboratory internships) (Outra). Coorientador.
2022/05/03 - 2022/05/04. Participação em evento. Participation in an activity entitled “ET hereditariety” for middle school and high school students at the Open Day (Dia Aberto) from the University of Algarve. Exposição. Open Day (Dia Aberto) from the University of Algarve. Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2022/05/03 - 2022/05/04. Participação em evento. Organization and participation in an activity entitled “Extraction of DNA from fruit” for middle school and high school students at the Open Day (Dia Aberto) from the University of Algarve. . Exposição. Universidade do Algarve Departamento de Ciências Biomédicas e Medicina.
2021/10/14 - 2021/10/15. Participação em evento. Attendance to the II ASPIC-ASEICA International Meeting - Current Trends in Precision Medicine in Cancer. Encontro. II ASPIC-ASEICA International Meeting – Current Trends in Precision Medicine in Cancer. Associação Portuguesa de Investigação em Cancro.
2021/10/08 - 2021/10/08. Participação em evento. Invited lecture entitled An Introduction to Breast Cancer. Simpósio. Outubro Rosa Liga Portuguesa (Breast Cancer awareness initiative). Liga Portuguesa Contra o Cancro.
2021/08/31 - 2021/08/31. Entrevista / Programa (rádio / tv). RTP dias do Futuro (Antena 1). Investigation currently developed and the BfK Ideas price achieved.
2021/08/06. Apresentação oral de trabalho. Allelic expression imbalance of PIK3CA mutations in breast cancer is frequent and prognostically significant. Worldwide PI3K Zoom seminar series. Host Lab: CellSig (Prof B. Vanhaesebroeck), UCL, Cancer Institute, London.
2021/07/08 - 2021/07/15. Participação em evento. Participation in BfK (Born from Knowledge) Ideas 2020. Development of a business idea: expressPIK - the RNA test specific to identify patients with breast cancer eligible for an innovative treatment. Team: Ana Teresa Maia and Joana Xavier. . Concurso. BfK (Born from Knowledge) Ideas Contest 2020. Agência Nacional de Inovação SA.
2021/07/12. Apresentação oral de trabalho. A capacitação para o voluntariado: a experiência do Grupo de Voluntariado UAlg” V+. 7º Congresso Nacional de Práticas Pedagógicas no Ensino Superior (CNaPPES.21). Universidade de Aveiro (Aveiro, Portugal).
2021/05/20 - 2021/05/21. Participação em evento. Attendance to the Meeting - Stemness & Metastasis: Advances in Research and Clinical Translation. Encontro. Porto Cancer Meeting - Stemness & Metastasis: Advances in Research and Clinical Translation. Universidade do Porto.
2021/05/20 - 2021/05/21. Participação em evento. Attendance of the 27th Porto Cancer Meeting - Stemness & Metastasis: Advances in Research and Clinical Translation.. Encontro. 27th Porto Cancer Meeting - Stemness & Metastasis: Advances in Research and Clinical Translation..
2021/05/18 - 2021/05/19. Participação em evento. Attendance to the Virtual Conference on Bioinformatics in Cancer. Conferência. The European Association for Cancer Research (EACR) Virtual Conference on Bioinformatics in Cancer. European Association For Cancer Research.
2021/05/18 - 2021/05/19. Participação em evento. Attendance to the European Association for Cancer Research (EACR) Virtual Conference on Bioinformatics in Cancer. Conferência. European Association for Cancer Research (EACR) Virtual Conference on Bioinformatics in Cancer. European Association For Cancer Research.
2021/02/08 - 2021/02/10. Participação em evento. Attendance to the Genomic Regulation 2021: Focus on Cancer. Encontro. Genomic Regulation 2021: Focus on Cancer, Swiss Institute on Bioinformatics (SIB).
2020/09/20 - 2020/09/20. Participação em evento. Attendance to Cancer Biology: From Basic To Translational Research. Simpósio. Liga Portuguesa Contra o Cancro.
2020/06/22 - 2020/06/24. Participação em evento. Attendance to the American Association for Cancer Research (AACR) 2020 Virtual Annual Meeting II. Encontro. 2020 Virtual Annual Meeting II. American Association for Cancer Research.
2018/01/26. Apresentação oral de trabalho. Uncovering miRNA-mediated cis-regulation in common cancers. . CIMAGO Scientific Meeting. CIMAGO (Coimbra, Portugal).
2020/02/20 - 2020/02/20. Organização de evento. Organization of an activity entitled “Extraction of DNA from fruit” for middle school and high school students at the Open Day (Dia Aberto) from the University of Algarve (2020). Universidade do Algarve.
2019/09/01 - 2020. Comissão de avaliação. Juri panel member (vogal efectivo) of a research fellowship for the recruitment of a doctorate under the research project POCI-01-0145-FEDER-022184 GenomePT. Universidade do Algarve. Fundação para a Ciência e Tecnologia (FCT).
2019/06/01 - 2020. Comissão de avaliação. Juri panel member (President) of an international tender for the recruitment of a post-doctoral associate researcher under the research project INTERGEN - INnovating breast cancer GWAS through inTEgRation of functional GENomics. Universidade do Algarve. Fundação para a Ciência e Tecnologia (FCT).
2019/09/29 - 2019/10/02. Participação em evento. Attendance to the EMBO | EMBL Symposium: Systems Genetics: From Genomes to Complex Traits. Simpósio. EMBO | EMBL Symposium: Systems Genetics: From Genomes to Complex Traits.
2019/07/30. Apresentação oral de trabalho. Innovating breast cancer GWAS through integration of functional Genomics.. CBMR scientific meeting. CBMR (Loulé, Portugal).
2017/09/03 - 2018/08/15. Orientação. Identifying novel genes associated with breast cancer susceptibility using differential allelic expression ratios.Oncobiologia - Mecanismos Moleculares do Cancro (Mestrado). Coorientador.
2017/11/17. Apresentação oral de trabalho. Mapping of cis-regulatory variants helps dissecting the risk mechanism for breast cancer associated 5q14.1 locus. 21ª Reunião da Sociedade Portuguesa de Genética Humana (SPGH). Sociedade Portuguesa de Genética Humana (SPGH) (Costa da Caparica, Portugal).
2017/11/17. Apresentação oral de trabalho. miRNA-mediated cis-regulation in breast cancer susceptibility. 21ª Reunião da Sociedade Portuguesa de Genetica Humana (SPGH). Sociedade Portuguesa de Genetica Humana (SPGH) (Costa da Caparica, Portugal).
2017/01/08 - 2017/01/08. Entrevista / Programa (rádio / tv). Dias do Futuro, Antena1, RTP, Portugal. Investigação em cancro da mama na UAlg.
2016/09/03 - 2017/08/15. Orientação. The role of miRNA-mediated cis-regulation in breast cancer susceptibility.Oncobiologia - Mecanismos Moleculares do Cancro (Mestrado). Coorientador.
2017/07/28. Júri de grau académico. BSc Project: Análise transcriptómica e epigenómica do cancro da mama. Arguente principal. André Filipe Vieira da Conceição (Outro). Universidade do Algarve.
2017/01/06 - 2017/02/10. Arbitragem científica em revista. Computer Methods and Programs in Biomedicine.
2015/02/01 - 2016/07/31. Orientação. Functional Characterisation of Putative Cis-Regulatory Risk Loci for Breast Cancer.EMQAL Erasmus Mundus (Mestrado). Coorientador.
2016/05/01 - 2016/06/30. Orientação. Estudo da influência de polimorfismos de risco para cancro da mama na regulação por miRNAs.Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2016/03/15 - 2016/06/30. Orientação. Estudo da influência de polimorfismos de risco para cancro da mama na regulação por miRNAs..Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2015/11/29 - 2015/12/02. Participação em evento. Course on Analysis of High-throughput sequencing data with Bioconductor. Oficina (workshop). Analysis of High-throughput sequencing data with Bioconductor. University of Cambridge Centre for Applied Medical Statistics.
2015/05/01 - 2015/06/30. Orientação. Identificação de novos marcadores genéticos de risco para o cancro da mama.Bioquímica (Licenciatura/Bacharelato). Coorientador.
2015/05/01 - 2015/06/30. Orientação. Identificação de novos marcadores genéticos de risco para cancro da mama.Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2015/03/15 - 2015/06/30. Orientação. Identificação de novos marcadores genéticos de risco para o cancro da mama..Bioquímica (Licenciatura/Bacharelato). Coorientador.
2015/03/01 - 2015/06/30. Orientação. Identificação de novos marcadores genéticos de risco para cancro da mama..Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2014/11/20. Apresentação oral de trabalho. Identification of 4 novel susceptibility loci for intracranial aneurysms in Portuguese using a pooling-based GWAS.. 18ª Reunião da Sociedade Portuguesa de Genetica Humana (SPGH). Sociedade Portuguesa de Genetica Humana (SPGH) (Lisboa, Portugal).
2014/05/01 - 2014/06/30. Orientação. Influência da variação genética na expressão de mutações em cancro.Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2014/03/15 - 2014/06/30. Orientação. Influência da variação genética na expressão de mutações em cancro..Ciências Biomédicas (Licenciatura/Bacharelato). Coorientador.
2013/11/22. Apresentação oral de trabalho. FUT2: filling the gap between genes and environment in Behçet’s disease? . 17th Annual Meeting of the Portuguese Society of Human Genetics. Sociedade Portuguesa de Genética Humana (SPGH) (Coimbra, Portugal).
2013/06/12. Apresentação oral de trabalho. Genome-wide association study identifies FUT2 as a novel genetic risk factor for Behçet’s disease. XXXVIII Jornadas Portuguesas de Genética.. Sociedade Portuguesa de Genetica (Porto, Portugal).
2013/04/04. Apresentação oral de trabalho. Identification of FUT2 as a risk factor for Behçet's disease in a genome-wide association study. Joint Conference of HGM and 21st International Congress of Genetics.
2012/11/11 - 2012/11/14. Participação em evento. Course on Automated and Reproducible Analysis of NGS data. Oficina (workshop). Automated and Reproducible Analysis of NGS data. Instituto Gulbenkian de Ciência.
2012/09/14 - 2012/09/16. Participação em evento. Course on Programming for Scientists. Oficina (workshop). Programming for Scientists. Instituto de Medicina Molecular João Lobo Antunes.
2012/05/28. Apresentação oral de trabalho. Gene expression and disease association analyses implicate EREG-AREG and NRG1 in susceptibility to Behçet’s Disease. XXXVII Jornadas Portuguesas de Genética.
2008/05/06. Apresentação oral de trabalho. Searching for a common genetic factor for Behçet’s disease and Ankylosing Spondylitis. . Marie Curie - Genome Architecture in Relation to Disease, Interplay among genetics, epigenetics and non-coding RNA's, .

Projetos

Projetos
2025/01/01 - 2028/12/31. expressCDx -Identification of RNA Biomarkers for the Development of New Personalized Cancer Diagnostic Methods, MPr-2023-7 SIID - I&D Empresarial. Investigador. Universidade do Algarve; EXPRESSTEC - INVESTIGAÇÃO E DESENVOLVIMENTO EM BIOTECNOLOGIA.
2019/05/30 - 2025/05/29. Unveiling cis-regulatory variants role in breast cancer aetiology, DL 57/2016. Investigador. Universidade do Algarve; Centro de Investigação em Tecnologias e Serviços de Saúde.
2023/02/20 - 2025/02/19. Exploring the shared regulatory genetic basis in cancer risk, Concurso de Projetos de I&D em Todos os Domínios Científicos - 2022. Investigador responsável. Universidade do Algarve; University of Cambridge.
2019/03/28 - 2023/03/27. INnovating breast cancer GWAS through inTEgRation of functional GENomics, Concurso para Financiamento de Projetos de Investigação Científica e Desenvolvimento Tecnológico em Todos os Domínios Científicos - 2017. Investigador responsável. Universidade do Algarve; Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes.
2018/06/01 - 2022/05/31. DEvoCancer: Decoding breast cancer evolution through mutant allele differential expression signatures, Concurso de Projetos de I&D em Todos os Domínios Científicos. Investigador. Universidade do Algarve.
2015/11 - 2019/05. Unveiling cis-regulatory variants role in breast cancer aetiology. Investigador Pós-doutorado.
2014/03/15 - 2015/10/31. Cis-regulation of somatic mutations in breast and ovarian cancers. Bolseiro de Pós-Doutoramento. Universidade do Algarve Centro de Investigação em Biomedicina.
2013/05 - 2015/10. Patients as Health Care Innovators: An Empirical Investigation of Treatment, Therapies and Medical Devices (TT&MD) developed by Patients of Chronic Diseases. Investigador. Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes.
2013/04/01 - 2013/06/30. Genetics of Nonsyndromic Cleft Lip and Palate NSCLP, 3599-PPCDT. Bolseiro de Investigação. Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes; Fundação Calouste Gulbenkian; Hospital de São João.
2010/01/01 - 2013/04/30. BEDGET: decifrar a genética da doença de Behçet, 3599-PPCDT. Investigador. Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes; Fundação Calouste Gulbenkian.
2009/01 - 2012/12. IDENTIFICATION OF GENETIC RISK FACTORS FOR BEHÇETS DISEASE. Bolseiro de Doutoramento.
2008/04/01 - 2008/09/30. microRnómica e proteómica da doença de Parkinson, 3599-PPCDT. Bolseiro de Investigação. Fundação Calouste Gulbenkian; Instituto Gulbenkian de Ciência; Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes.

Produções

Besouro-Duarte A; Carrasqueiro B; Sousa S; Xavier JM; Maia AT. 2024. "Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer Risk in 10 Loci.". Cancers. https://doi.org/10.3390/cancers16173020
Luís Lopes Maia Ana Teresa; Gonçalves De Gouveia Maia Xavier Joana; Winkelströter Correia Lizelle; Magno Morgado Ramiro Emanuel. 2024. "METHODS OF ANALYSIS OF ALLELIC EXPRESSION OF PIK3CA IN CANCER AND USES THEREOF".
Gonçalves De Gouveia Maia Xavier Joana; Luís Lopes Maia Ana Teresa; Oleiro Esteves Ribeiros Filipa Alexandra. 2024. "METHODS OF ANALYSIS OF 17Q22 POLYMORPHISMS ASSOCIATED WITH CANCER AND USES THEREOF".
Gonçalves De Gouveia Maia Xavier Joana; Luís Lopes Maia Ana Teresa; Oleiro Esteves Ribeiros Filipa Alexandra. 2024. "METHODS OF ANALYSIS OF 17Q22 POLYMORPHISMS ASSOCIATED WITH CANCER AND USES THEREOF". Estados Unidos.
Luís Lopes Maia Ana Teresa; Gonçalves De Gouveia Maia Xavier Joana; Winkelströter Correia Lizelle; Magno Morgado Ramiro Emanuel. 2024. "METHODS OF ANALYSIS OF ALLELIC EXPRESSION OF PIK3CA IN CANCER AND USES THEREOF". Estados Unidos.
Xavier JM; Magno R; Russell R; de Almeida BP; Jacinta-Fernandes A; Besouro-Duarte A; Dunning M; et al. 2024. "Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis.". Scientific reports. https://doi.org/10.1038/s41598-024-72163-y
Gonçalves De Gouveia Maia Xavier Joana; Luís Lopes Maia Ana Teresa; Oleiro Esteves Ribeiros Filipa Alexandra. 2023. "METHODS OF ANALYSIS OF 17Q22 POLYMORPHISMS ASSOCIATED WITH CANCER AND USES THEREOF".
Ana Teresa Luís Lopes Maia; Joana Gonçalves De Gouveia Maia Xavier; Lizelle Winkelströter Correia; Ramiro Emanuel Magno Morgado. 2023. "Métodos de análise da expressão alélica de pik3ca em câncer e seus usos". Brasil.
Xavier, Joana M.. 2023. List of daeGenes and daeQTLs in normal breast tissue. https://pmc.ncbi.nlm.nih.gov/articles/PMC11438911/#Sec27
Esteves, Filipa; Xavier, Joana M.; Ford, Anthony M.; Rocha, Cátia; Pharoah, Paul D.P.; Caldas, Carlos; Chin, Suet-Feung; Maia, Ana-Teresa. 2022. "Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer". European Journal of Cancer, 172: 146-157. https://doi.org/10.1016/j.ejca.2022.05.034
Correia, Lizelle; Magno, Ramiro; Xavier, Joana M.; de Almeida, Bernardo P.; Duarte, Isabel; Esteves, Filipa; Ghezzo, Marinella; et al. 2022. "Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant". npj Breast Cancer, 8 (1). https://doi.org/10.1038/s41523-022-00435-9
Ghezzo, Marinella N; Magno, Ramiro; Xavier, Joana M; Maia, Ana-Teresa. 2022. Redesigned case-control study using allelic expression as a quantitative phenotype identifies new risk loci for breast cancer. Em 5th ASPIC International Congress.
2022. expressTEC. https://expresstec.pt
Luís Lopes Maia Ana Teresa; Gonçalves De Gouveia Maia Xavier Joana; Winkelströter Correia Lizelle; Magno Morgado Ramiro Emanuel. 2022. "METHODS OF ANALYSIS OF ALLELIC EXPRESSION OF PIK3CA IN CANCER AND USES THEREOF".
Luis Lopes Maia Ana Teresa; Goncalves De Gouveia Maia Xavier Joana; Winkelstroter Correia Lizelle; Magno Morgado Ramiro Emanuel. 2022. "METHODS OF ANALYSIS OF ALLELIC EXPRESSION OF PIK3CA IN CANCER AND USES THEREOF". Canadá.
Xavier, Joana; Magno, Ramiro; Russel, Roslin; de Almeida, Bernardo P.; Jacinta-Fernandes, Ana; Duarte, André; BARBOSA-MORAIS, NUNO; Maia, Ana-Teresa. 2021. Mapping of cis-regulatory variants by differential allelic expression analysis identifies regulatory variants and target genes of 31 breast cancer risk loci. Em EACR - Bioinformatics in Cancer. Virtual Event, Worldwide.
Jacinta-Fernandes, Ana; Xavier, Joana M.; Magno, Ramiro; Lage, Joel G.; Maia, Ana-Teresa. 2020. "Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk". npj Genomic Medicine, 5 (1). https://doi.org/10.1038/s41525-019-0112-9
Magno, Ramiro; Martel, Paulo; Ghezzo, Marinella; Xavier, Joana M; Maia, Ana-Teresa. 2020. Exploring the role of alternative splicing in breast cancer risk.. Em Cancer Biology: From Basic To Translational Research. .
Machado, Juliana; Magno, Ramiro; Xavier, Joana M; Maia, Ana-Teresa. 2019. Alternative splicing regulation by GWAS risk loci for breast cancer. https://doi.org/10.1101/766394
Xavier, Joana M; Magno, Ramiro; Rocha, Cátia L; Dunning, M; Russell, Roslin; Maia, Ana-Teresa. 2019. Mapping cis-regulatory variants pinpoints target genes of breast cancer risk loci. Em EMBO | EMBL Symposium: Systems Genetics: From Genomes to Complex Traits..
Esteves, Filipa; Xavier, Joana M; Maia, Ana-Teresa. 2019. DAE identifies COX11 and TOM1L1 as target genes in breast cancer risk locus 17q22. Em EMBL Conference: Cancer Genomics.
Matias, A.T.; Jacinta-Fernandes, A.; Magno, R.; Xavier, J.; Cabral, M.G.; Jacinto, A.; Maia, A.T.; Braga, S.. 2018. "Differential molecular signature in patients from African origin with triple-negative breast cancer". Em Annals of oncology : official journal of the European Society for Medical Oncology, viii95-viii95. https://doi.org/10.1093/annonc/mdy272.290
Xavier, Joana M; Magno, Ramiro; Almeida, Bernardo P.; Maia, Ana-Teresa. 2018. Integrative genomic approach elucidates the risk mechanism for breast cancer associated 5q14.1 locus. Em 3rd ASPIC International Congress.
Martins, Catarina; Xavier, Joana; Magno, Ramiro; Maia, Ana-Teresa. 2018. Identifying novel genes associated with Breast Cancer susceptibility using Allelic Expression Ratios. Em 3rd ASPIC International Congress.
Machado, J; Magno, R; Xavier, JM; Maia, AT. 2018. Uncovering the role of alternative splicing in Breast Cancer susceptibility. Em EMBL conference - Transcription and Chromatin.
Esteves, Filipa; Magno, Ramiro; Xavier, Joana M (EE13-176A-5613); Maia, Ana-Teresa. 2018. A comprehensive analysis of RNA-Seq data to identify risk variants for breast cancer using allelic expression. Em EMBL Conference: From Functional Genomics to Systems Biology.
Esteves, Filipa; Magno, Ramiro; Xavier, Joana M (EE13-176A-5613); Maia, Ana-Teresa. 2018. Identification of risk variants for breast cancer: a comprehensive analysis of RNA-Seq data. Em 3rd ASPIC International Congress.
Jacinta-Fernandes, A; Xavier, Joana M; Magno, Ramiro; Jerónimo, Carmen; Maia, Ana-Teresa. 2018. Revealing the role of allele- specific miRNA regulation in prostate cancer susceptibility. Em 3rd ASPIC International Congress..
Matos, Mafalda; Xavier, Joana M.; Abrantes, Patrícia; Sousa, Inês; Rei, Nádia; Davatchi, Fereydoun; Shahram, Farhad; et al. 2017. "IL10
low-frequency variants in Behçet's disease patients". International Journal of Rheumatic Diseases, 20 (5): 622-627. https://doi.org/10.1111/1756-185x.12369
Abrantes, Patrícia; Rosa, Alexandra; Francisco, Vânia; Sousa, Inês; Xavier, Joana M.; Oliveira, Sofia A.. 2016. "Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism". Atherosclerosis, 252: 97-105. https://doi.org/10.1016/j.atherosclerosis.2016.07.920
Xavier, J.; Almeida, B.; Sun, C.; Silva, J.; Marreiros, A.; Eldridge, M.; Bernards, R.; et al. 2016. "PIK3CA mutant allele differential expression (MADE) associates with breast cancer clinical features". Trabalho apresentado em EACR24: From basic research to precision medicine, Manchester, Reino Unido, 61. https://doi.org/10.1016/s0959-8049(16)61723-9
Rosa, A.; Abrantes, P.; Sousa, I.; Francisco, V.; Santos, P.; Francisco, D.; Xavier, J.M.; Oliveira, S.A.. 2016. "Ulcerative colitis is under dual (Mitochondrial and Nuclear) genetic control". Inflammatory Bowel Diseases, 22 (4): 774-781. https://doi.org/10.1097/MIB.0000000000000694
Abrantes, Patrícia; Santos, Maria M.; Sousa, Inês; Xavier, Joana M.; Francisco, Vânia; Krug, Tiago; Sobral, João; et al. 2015. "Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal". PLOS ONE, 10 (7). https://doi.org/10.1371/journal.pone.0133422
Xavier, Joana; Russell, Roslin; Almeida, Bernardo P.; Rosli, Nordiana; Rocha, Catia; Samarajiwa, Shamith; Chin, Suet-Feung; et al. 2015. "Integrative differential allelic expression analysis efficiently reveals the biology underlying risk to breast cancer". Em Mol Cancer Res, vol 61, Suppl 1 .: American Association for Cancer Research. https://doi.org/10.1158/1557-3125.advbc15-a31
Sousa, Inês; Shahram, Farhad; Francisco, David; Davatchi, Fereydoun; Abdollahi, Bahar Sadeghi; Ghaderibarmi, Fahmida; Nadji, Abdolhadi; et al. 2015. "Brief Report: Association ofCCR1,KLRC4,IL12A-AS1,STAT4, andERAP1With Behçet's Disease in Iranians". Arthritis & Rheumatology, 67 (10): 2742-2748. https://doi.org/10.1002/art.39240
Xavier, Joana M; Davatchi, Fereydoun; Abade, Olga; Shahram, Farhad; Francisco, Vânia; Abdollahi, Bahar Sadeghi; Trindade, Hélder; et al. 2015. "Characterization of the major histocompatibility complex locus association with Behçet’s disease in Iran". Arthritis Research & Therapy, 17 (1). https://doi.org/10.1186/s13075-015-0585-6
Xavier, J.M.; Shahram, F.; Sousa, I.; Davatchi, F.; Matos, M.; Abdollahi, B.S.; Sobral, J.; et al. 2015. "FUT2: Filling the gap between genes and environment in Behçet's disease?". Annals of the Rheumatic Diseases, 74 (3): 618-624. https://doi.org/10.1136/annrheumdis-2013-204475
Machado, Rui S. R.; Xavier, Joana M.; Futschik, Matthias E.. 2014. "Targeting molecular networks for drug research". Frontiers in Genetics, 5. https://doi.org/10.3389/fgene.2014.00160
Pinto, José P.; Reddy Kalathur, Ravi Kiran; Machado, Rui S. R.; Xavier, Joana M.; Bragança, José; Futschik, Matthias E.. 2014. "StemCellNet: an interactive platform for network-oriented investigations in stem cell biology". Nucleic Acids Research, 42 (W1): W154-W160. https://doi.org/10.1093/nar/gku455
Pinto et al. Nucleic Acids Res . 2014 Jul;42(Web Server issue):W154-60. . 2014. StemCellNet. http://stemcellnet.sysbiolab.eu
Xavier, Joana Gonçalves de Gouveia Maia, 1984-. 2013. "Identification of genetic risk factors for Behçet’s disease". Doutoramento. http://hdl.handle.net/10451/10517
Xavier, J.M.; Krug, T.; Davatchi, F.; Shahram, F.; Fonseca, B.V.; Jesus, G.; Barcelos, F.; et al. 2013. "Gene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibility". Journal of Molecular Medicine, 91 (8): 1013-1023. https://doi.org/10.1007/s00109-013-1022-4
Xavier, Joana M.; Shahram, Farhad; Davatchi, Fereydoun; Rosa, Alexandra; Crespo, Jorge; Abdollahi, Bahar Sadeghi; Nadji, Abdolhadi; et al. 2012. "Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behçet's disease". Arthritis & Rheumatism, 64 (8): 2761-2772. https://doi.org/10.1002/art.34437
Xavier, J.M.; Shafiee, N.M.; Ghaderi, F.; Rosa, A.; Abdollahi, B.S.; Nadji, A.; Shahram, F.; Davatchi, F.; Oliveira, S.A.. 2011. "Association of mitochondrial polymorphism m.709GA with Behçet's disease". Annals of the Rheumatic Diseases, 70 (8): 1514-1516. https://doi.org/10.1136/ard.2010.143537
Krug, T.; Manso, H.; Gouveia, L.; Sobral, J.; Xavier, J.M.; Albergaria, I.; Gaspar, G.; et al. 2010. "Kalirin: A novel genetic risk factor for ischemic stroke". Human Genetics, 127 (5): 513-523. https://doi.org/10.1007/s00439-010-0790-y
Xavier, Joana Gonçalves de Gouveia Maia. 2008. "Estudo de linkage e pesquisa de mutações numa família portuguesa com doença de behçet e espondilite anquilosante". Mestrado. http://catalogo.ul.pt/F/?func=item-global&doc_library=ULB01&type=03&doc_number=000579887
 

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