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José Ferrão completed the Master Programme in Bioinformatics and Computational Biology by Universidade de Lisboa in 2024. He completed the Master´s degree in Cellular Biology in 2009 and a Degree in Biology in 2005, both by Universidade de Coimbra. He is a Computational Biologist in the Human Genetics Department in Instituto Nacional de Saúde Doutor Ricardo Jorge. Published 12 articles in journals and participated in 66 events. José works in Human Genetics (Bioinformatics, DNA sequencing and RNA-Seq data analysis, Exome sequencing, Molecular Biology, Cell Biology). In his curriculum Ciência Vitae the most frequent terms in the context of scientific and technological output are: Python; Unix shell; R; NGS; Exome sequencing; SNVs; indels; CNVs; Structural variants; Sanger sequencing; Massive parallel sequencing; PCR; RT-qPCR; gene cloning; DNA extraction; RNA extraction; MLPA; Western blot; Fragment analysis; ArrayCGH; FISH; STRs; Transfection; Primary cell line; Differentiation; Hypoxia; Epigenetics; Intellectual disability; Autism spectrum disorders; Hemoglobinopathies; messengerRNA metabolism; Fragile X syndrome; Prenatal diagnostics; Inflammatory bowel disease.
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Identification

Personal identification

Full name
José Cândido de Oliveira Alves Ferrão

Citation names

  • Ferrão, José

Author identifiers

Ciência ID
C01F-F31D-F997
ORCID iD
0000-0002-2553-7467

Email addresses

  • jose.ferrao@insa.min-saude.pt (Professional)

Addresses

  • Instituto Nacional de Saúde, Dr. Ricardo Jorge. Departamento de Genética Humana - Instituto Nacional de Saúde, Dr. Ricardo Jorge, Avenida Padre Cruz, 1649-016, Lisboa, Lisboa, Portugal (Professional)

Knowledge fields

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

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Education
Degree Classification
2018/09 - 2024/02/28
Concluded
 Master´s Degree in Bioinformatics and Computational Biology (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
"Transcriptomic signatures of the INK4A/ARF locus in senescence regulation" (THESIS/DISSERTATION)
 17
2011/06/08
Concluded
 Genetics Laboratory Specialist (Título de especialista)
Administração Central do Sistema de Saúde, Portugal
 15,2
2009/06/23
Concluded
 Master´s degree in Cellular Biology (Mestrado)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Mutações no gene NOD2 na Doença Inflamatória Intestinal. Associação genótipo-fenótipo na Doença de Crohn. (NOD2 Mutations in Inflammatory Bowel Disease. Genotype-phenotype association in Crohn´s disease)" (THESIS/DISSERTATION)
 Muito Bom
2005/07/26
Concluded
 Biology (Licenciatura)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
 14
Affiliation

Science

Category
Host institution 		Employer
2014/10/01 - 2020/02/29 Research Assistant (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP - Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento, Portugal

Other Careers

Category
Host institution 		Employer
2020/03/01 - Current Assistente (Técnico Superior de Saúde - Genética) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge IP - Departamento de Genética Humana, Unidade de Tecnologia e Inovação, Portugal
2006/09/01 - 2014/09/30 Técnico Superior (Técnico Superior) Universidade de Coimbra Faculdade de Medicina, Portugal
Laboratório de Citogenética e Genómica, Portugal

Others

Category
Host institution 		Employer
2004/09/15 - 2006/07/30 Graduation internship (training period) and development of the master´s project Universidade de Coimbra Faculdade de Medicina, Portugal
Universidade de Coimbra Centro de Gastrenterologia, Portugal
Projects

Other

Designation Funders
2024 - Current The European Rare Diseases Research Alliance (ERDERA)
101156595
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Ongoing
2023/03 - Current Sustainable use and integration of enhanced infrastructure into routine WGS-based surveillance and outbreak investigation activities in Portugal
101113460
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Ongoing
Outputs

Publications

Conference abstract
  1. Alves, Bárbara; Pereira, Joana F; Ferrão, José; Vieira, Luís; Matos, Paulo; Jordan, Peter; Gonçalves, Vânia. "IL-6 induces the overexpression of genes involved in the regulation of apoptosis and cell-cell adhesion in polarized colorectal cancer cells". Paper presented in 11th international meeting on signal transduction, SINAL 2024, Coimbra, 2024.
  2. Lavoura, Nuno; Ferrão, José; Ferreira, Susana Isabel; Almeida, MR; Tao, H; Rebelo, O; Carreira, Isabel Marques. "Pilot study on MGMT gene methylation status by MS-MLPA in patients with glioblastoma". Paper presented in Atualizações em Oncologia 2015 - 4º Congresso do CIMAGO, Coimbra, 2015.
    Published
  3. Carreira, Isabel Marques; Jardim, Ana; Matoso, Eunice; Ferrão, José; Ferreira, Susana Isabel; Ramos, Lina; Saraiva, Jorge; de Melo, Joana Barbosa. "Inherited apparently balanced rearrangement: a trap for cytogenetics overcome by array-CGH". Paper presented in 9th European Cytogenetics Conference, Dublin, 2014.
    Published
  4. Santos, JD; Parada, B; Ribeiro, IP; Ferrão, José; Caramelo, F; Melo, JB; Carreira, IM. "Evaluation of bladder tumors by MS-MLPA: a strategy with clinical impact?". Paper presented in Atualizações em Oncologia 2014: 28ª Reunião e 3ºCongresso do CIMAGO, Coimbra, 2014.
    Published
  5. Santos, JD; Parada, B; Ribeiro, IP; Ferrão, José; Caramelo, F; Carreira, IM; Melo, JB. "MLPA analysis of urine samples: a contribution to a noninvasive strategy in detection of bladder cancer". Paper presented in Atualizações em Oncologia 2014: 28ª Reunião e 3º Congresso do CIMAGO, Coimbra, 2014.
    Published
  6. Ribeiro, IP; Marques, F; Caramelo, F; Ferrão, José; Julião, MJ; Melo, JB; Baptista, IP; Carreira, IM. "Genetic profile of oral cancer as a valuable ally for clinicians". Paper presented in Atualizações em Oncologia 2014: 28ª Reunião e 3º Congresso do CIMAGO, Coimbra, 2014.
    Published
  7. Marques, F; Ribeiro, IP; Ferreira, SI; Ferrão, José; Julião, MJ; Baptista, IP; Melo, JB; Carreira, IM. "Head and neck cancer: a heterogeneous disease?". Paper presented in Atualizações em Oncologia 2014: 28ª Reunião e 3º Congresso do CIMAGO, Coimbra, 2014.
    Published
  8. Pires, LM; Ferreira, SI; Ferrão, José; Lavoura, N; Ramos, F; Beleza-Meireles, A; Melo, JB; Carreira, IM. "Chromosome 15q11.2 imbalances associated with neuropsychiatric and developmental disorders – array-CGH findings in a cohort of 1000 patients". Paper presented in European Human Genetics Conference 2014, Milan, 2014.
    Published
  9. Ferreira, Susana Isabel; Pires, Luís Miguel; Ferrão, José; Pinto, Marta; Venâncio, Margarida; de Melo, Joana Barbosa; Carreira, Isabel Marques. "11q23.2q23.3 maternal deletion: is CADM1 gene responsible?". Paper presented in 9th European Cytogenetics Conference, Dublin, 2013.
    Published • 10.1109/ifipnetworking.2016.7497241
  10. Ferrão, José; Ferreira, Susana Isabel; Matoso, Eunice; Jardim, Ana; Ramos, Fabiana; Saraiva, Jorge; de Melo, Joana Barbosa; Carreira, Isabel Marques. "Chromosome 16q12.1 deletion: a case report adding evidence for a new microdeletion syndrome". Paper presented in European Human Genetics Conference 2013, Paris, 2013.
    Published • 10.1109/sisw.2005.1
  11. Carreira, Isabel Marques; Ferreira, Susana Isabel; Pires, Luís Miguel; Ferrão, José; Santos, João D; Jardim, Ana; Matoso, Eunice; de Melo, Joana Barbosa. "Oligonucleotide array as a first tier test for the diagnosis of patients with intelectual disability, multiple congenital anomalies and autism spectrum disorders". Paper presented in Atualizações em Oncologia 2013, 27ª Reunião, 2º Congresso do CIMAGO, Coimbra, 2013.
    Published
  12. Ribeiro, Ilda Patrícia; Marques, Francisco; Ferrão, José; Julião, Maria José; de Melo, Joana Barbosa; Baptista, Isabel Poiares; Carreira, Isabel Marques. "The promise of a non-invasive methodology to follow-up the patients treated for oral cancer – Which is the impact in the clinical practice?". Paper presented in Atualizações em Oncologia 2013, 27ª Reunião, 2º Congresso do CIMAGO, Coimbra, 2013.
    Published
  13. Marques, Francisco; Ribeiro, Ilda Patrícia; Ferreira, Susana Isabel; Ferrão, José; Julião, Maria José; Baptista, Isabel Poiares; de Melo, Joana Barbosa; Carreira, Isabel Marques. "Head and neck cancer: From the genotype to phenotype and their implications". Paper presented in Atualizações em Oncologia 2013, 27ª Reunião, 2º Congresso do CIMAGO, Coimbra, 2013.
    Published
  14. Guarino, P; Alves, R.; Domingues, C; Leite, J; Ferreira, M.; Gonçalves, Ana Cristina; Pais, Cláudia; et al. "Genetic cancer susceptibility in Down syndrome – a preliminary study". Paper presented in Atualizações em Oncologia 2013, 27ª Reunião, 2º Congresso do CIMAGO, Coimbra, 2013.
    Published
  15. Ribeiro, Ilda Patrícia; Marques, Franscisco; Ferreira, Susana Isabel; Ferrão, José; Cainço, Ana; Julião, Maria José; Baptista, Isabel Poiares; de Melo, Joana Barbosa; Carreira, Isabel Marques. "From genome-wide profiling of oral cavity carcinoma to molecular targeted therapies…How far are we?". Paper presented in Atualizações em Oncologia 2013, 27ª Reunião, 2º Congresso do CIMAGO, Coimbra, 2013.
    Published
  16. Ribeiro, Ilda Patrícia; Marques, Francisco; Prazeres, Hugo; Ferrão, José; Julião, Maria José; Baptista, Isabel Poiares; de Melo, Joana Barbosa; Carreira, Isabel Marques. "HPV in the etiology of oral cavity carcinoma: True or coincidence?". Paper presented in Atualizações em Oncologia 2013, 27ª Reunião, 2º Congresso do CIMAGO, Coimbra, 2013.
    Published
  17. Ribeiro, Ilda Patrícia; Marques, Francisco; Ferrão, José; Julião, Maria José; de Melo, Joana Barbosa; Baptista, Isabel Poiares; Carreira, Isabel Marques. "Can a oral leukoplakia evolve to a tumor: What gene can tell us?". Paper presented in Atualizações em Oncologia 2013, 27ª Reunião, 2º Congresso do CIMAGO, Coimbra, 2013.
    Published
  18. Ribeiro, IP; Marques, F; Ferrão, José; Ferreira, SI; Julião, MJ; Baptista, IP; Carreira, IM. "Follow-up of the patients treated for oral cancer by a non-invasive methodology: Pilot study". Paper presented in Atualizações em Oncologia 2012, 26ª Reunião - 1º Congresso do CIMAGO, Coimbra, 2012.
    Published
  19. Carreira, IM; Ferreira, SI; Pires, LM; Ferrão, José; Jardim, A; Pinto, M.; Mascarenhas, A; et al. "Whole genome oligonucleotide arrayCGH in a diagnostic laboratory setting: one year experience". Paper presented in Atualizações em Oncologia 2012, 26ª Reunião - 1º Congresso do CIMAGO, Coimbra, 2012.
    Published
  20. Ferreira, SI; Ferrão, José; Pires, LM; Pais, C; Lavoura, N; Matoso, E; Melo, JB; Carreira, IM. "The advance of molecular techniques in the diagnosis of fragile X syndrome: Casuistic of 2 years of experience". Paper presented in Atualizações em Oncologia 2012, 26ª Reunião - 1º Congresso do CIMAGO, Coimbra, 2012.
    Published
  21. Ribeiro, I.P.; Marques, F.; Ferrão, José; Ferreira, S.I.; Julião, M.J.; Baptista, I.P.; Carreira, I.M.. "Genomic profile in the oral cancer diagnosis: step by step…towards reality". Paper presented in Atualizações em Oncologia 2012, 26ª Reunião - 1º Congresso do CIMAGO, Coimbra, 2012.
    Published
  22. Ferrão, José; Matoso, E; Saraiva, J; Melo, JB; Carreira, IM. "To be or not to be a CNV? How to interpret this question with MLPA". Paper presented in 8th European Cytogenetics Conference, Porto, 2011.
    Published
  23. Lavoura, N; Mascarenhas, A; Ferrão, José; Galhano, E; Rei, AI; Venâncio, M; Carreira, IM. "Copy number variants, how defensive can it be?". Paper presented in 8th European Cytogenetics Conference, Porto, 2011.
    Published
  24. Pais, C; Lourenço, A; Ferrão, José; Jardim, A; Mascarenhas, A; Carreira, IM. "How a 46,XX MLPA result turns into a 69,XXX: beyond maternal cell contamination in chorionic villus samples". Paper presented in 8th European Cytogenetics Conference, 2011.
    Published
  25. Pinto, M; Jardim, A; Matoso, E; Mascarenhas, A; Paiva, P; Ferrão, José; Equipa de DPN; Sá, J.; Carreira, IM. "Three clinical pictures of Pallister Killian syndrome". Paper presented in 6th European Cytogenetics Conference, Istambul, 2007.
    Published
Conference poster
  1. Sandiares, Ana Catarina; Gonçalves, Mariana; David, Hugo; Cardoso, Maria T; Ferrão, José; Vieira, Luís; Alves, Sandra; Encarnação, Marisa. "Exploring the complexity in Niemann-Pick Type C Disorder: investigating cellular targets, potential biomarkers and disease-causing variants". Paper presented in 17º Encontro Investigação Jovem da Universidade do Porto IUJP, 2024.
  2. Silva, Catarina; Ferrão, José; Marques, Bárbara; Pedro, Sónia; Correia, Hildeberto; Rodrigues, António Sebastião; Vieira, Luís. "Performance analysis of three structural variation callers for the detection of large size copy number variants". Paper presented in London Calling 2024, 2024.
  3. Sandiares, Ana Catarina; Gonçalves, Mariana; David, Hugo; Cardoso, Maria T; Ferrão, José; Vieira, Luís; Ribeiro, I; et al. "Investigating cellular targets, potential biomarkers, and disease-causing variants to understand the complexity of Niemann-Pick Type C Disorder". Paper presented in 20th International Symposium of the Portuguese Society for Metabolic Diseases, 2024.
  4. Alves, Bárbara; Pereira, Joana F; Ferrão, José; Vieira, Luís; Matos, Paulo; Jordan, Peter; Gonçalves, Vânia. "IL-6 induces the overexpression of genes involved in the regulation of apoptosis and cell-cell adhesion in polarized colorectal cancer cells". Paper presented in 6th ASPIC International Congress, 2024.
  5. Alves, Bárbara; Pereira, Joana F; Ferrão, José; Vieira, Luís; Matos, Paulo; Jordan, Peter; Gonçalves, Vânia. "IL-6 induces the overexpression of genes involved in the regulation of apoptosis and cell-cell adhesion in polarized colorectal cancer cells". Paper presented in 27th Annual Meeting of the Portuguese Society of Human Genetics, 2023.
  6. Silva, Catarina; Ferrão, José; Marques, Bárbara; Pedro, Sónia; Correia, Hildeberto; Rodrigues, António Sebastião; Vieira, Luís. "Detection of copy number variants in the human genome: Is long-read sequencing an alternative to genomic microarrays?". Paper presented in 3rd Symposium of the National Research Infrastructure for Genome Sequencing and Analysis, 2023.
  7. David, Susana; Castro, Liliana; Duarte, Elsa; Machado, Miguel; Gaspar, Ulisses; Rojo, Maria Vanessa Cueto; Mendonça, Joana; et al. "Human genetic susceptibility to infection by Coxiella burnetii preliminary results of massive parallel sequencing". Paper presented in 3rd Symposium of the National Research Infrastructure for Genome Sequencing and Analysis, 2023.
  8. Silva, Catarina; Machado, Miguel; Ferrão, José; Rodrigues, Sebastião; Vieira, Luís. "Long read nanopore sequencing: new approach to the methylation profile of the human genome". Paper presented in 3º Dia do Jovem Investigador do Instituto Ricardo Jorge 2022, 2022.
  9. Pessoa, Vera; Oliveira, Alexandra; Santos, Daniela; Mendonça, Joana; Machado, Miguel P.; Ferrão, José; Vieira, Luís; et al. "Widening the Spectrum of TMPRSS6 Gene Pathogenic Variants Related with Hereditary Iron Deficiency". Paper presented in 25th Annual Meeting SPGH 2021, 2021.
  10. Ferrão, José; Sampaio, Daniel; Mendonça, Joana; Carpinteiro, Dina; Duarte, Sílvia; Barreiro, Paula; Santos, Daniela; et al. "The Technology and Innovation Unit of the National Institute of Health in 2021: Enhancing bioinformatics and response to SARS-CoV2 genomic sequencing". Paper presented in 2nd Symposium of the National Research Infrastructure for Genome Sequencing and Analysis, 2021.
  11. David, S; Correia, V; Antunes L.; Faria, R; Ferrão, José; Faustino, P; Nunes, B; et al. "Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity". Paper presented in 21st Annual Meeting of the Portuguese Society of Human Genetics, 2017.
  12. Ferrão, José; Silva, Marisa; Gonçalves, L.; Gomes, S.; Loureiro, P; Coelho, A; Miranda, A; et al. "Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16p". Paper presented in 50th Conference of the European Society of Human Genetics 2017, 2017.
  13. Ferrão, José; Silva, Marisa; Gonçalves, L.; Gomes, S.; Loureiro, P; Coelho, A; Miranda, A; et al. "Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16p". Paper presented in Dia do Jovem Investigador do Instituto Ricardo Jorge 2017, 2017.
  14. Ferrão, José; Onofre, C; Barbosa, C; Romão, Luísa. "Translational control of the human erythropoietin expression via an upstream open reading frame in cardiac tissue". Paper presented in Dia do Jovem Investigador do Instituto Ricardo Jorge 2017, 2017.
  15. Onofre, C; Ferrão, José; Barbosa, C; Romão, Luísa. "Regulation of the human erythropoietin expression via an upstream open reading frame in cardiac tissue". Paper presented in 20th Annual Meeting of the Portuguese Society of Human Genetics, 2016.
  16. Ferrão, José; Silva, Marisa; Gonçalves, L.; Gomes, S.; Coelho, A; Miranda, A; Seuanes, F; et al. "Novel Deletions and Unusual Genetic Mechanisms Underlying Alphathalassemia". Paper presented in 20th Annual Meeting of the Portuguese Society of Human Genetics, 2016.
  17. Pires, LM; Jardim, A; Lavoura, N; Ferrão, José; Ramos, F; Beleza-Meireles, A; Melo, JB; Carreira, IM. "Array-CGH detection of 15q11.2 imbalances. Challenges in interpretation and association with intellectual disorders". Paper presented in 18th Meeting of the Portuguese Society of Human Genetics, 2014.
  18. Carreira, IM; Ferreira, SI; Lavoura, N; Ferrão, José; Tao, H; Almeida, MR; Rebelo, O. "Preliminary results on MGMT gene methylation status by MS-MLPA in patients with Glioblastoma". Paper presented in 18th Meeting of the Portuguese Society of Human Genetics, 2014.
    10.1158/1538-7445.am2013-653
  19. Melo, JB; Ferreira, SI; Ferrão, José; Pires, LM; Matoso, E; Oliveira, G; Carreira, IM. "Chromosome 15q11.2 imbalaces associated with neuropsychiatric and developmental disorders – array-CGH findings in a cohort of 1000 patients". Paper presented in VIII Seminário da Sociedade Portuguesa de Pediatria do Neurodesenvolvimento – Avanços em Pediatria do Neurodesenvolvimento, 2014.
  20. Ferreira, SI; Pires, LM; Ferrão, José; Jardim, A; Carreira, IM. "Whole genome research by array-CGH – detection of copy number imbalances with clinical impact: 1000 cases". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  21. Monteiro, J; Ramos, L.; Venâncio, M.; Ramos, F.; Sá, J.; Beleza, A; Melo, JB; et al. "Utility of array based comparative genomic hybridization in etiological study of developmental delay and intellectual disability". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  22. Ribeiro, IP; Marques, F; Caramelo, F; Ferrão, José; Julião, MJ; Melo, JB; Baptista, IP; Carreira, IM. "Genetic gains and losses in oral squamous cell carcinoma - the missing element to trigger clinical personalized medicine". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  23. Santos, JD; Parada, B; Ribeiro, IP; Ferrão, José; Caramelo, F; Carreira, IM; de Melo, JB. "Genetic analysis of urine samples as a promising strategy in bladder cancer diagnosis and follow-up". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  24. Carreira, IM; Jardim, A; Matoso, E; Ferrão, José; Ferreira, SI; Ramos, L.; Saraiva, J; de Melo, JB. "An inherited apparently balanced rearrangement detected by cytogenetics with possible mechanisms unveiled by array-CGH". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
    10.1115/detc2008-49402
  25. Louro, P; Ramos, L.; Garabal, A; Reis, CF; Ferrão, José; Ferreira, SI; Pires, LM; et al. "Comparing patients with Smith Magenis syndrome and Potocki Lupski syndrome. Reciprocal syndromes". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  26. Portovedo, S; Ribeiro, IP; Pires, LM; Ferrão, José; Ferreira, SI; Caramelo, F; Carvalho, L.; et al. "Use of MLPA assay in the molecular diagnosis of gene copy number alterations in lung cancer". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  27. Cainço, A; Ribeiro, IP; Marques, F; Ferrão, José; Julião, MJ; Baptista, IP; Melo, JB; Carreira, IM. "Genetic and epigenetic alterations in Oral Squamous Cell Carcinoma patients". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  28. Santos, JD; Parada, B; Ribeiro, IP; Ferrão, José; Caramelo, F; Melo, JB; Carreira, IM. "Methylation profile of bladder cancer – contribution to diagnosis, follow-up and prognosis". Paper presented in 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2013.
  29. Ferreira, SI; Ferrão, José; Pires, LM; Pais, C; Lavoura, N; Matoso, E; Melo, JB; Carreira, IM. "The advance of molecular techniques in the diagnosis of fragile X syndrome: Casuistic of 2 years of experience". Paper presented in Atualizações em Oncologia 2012, 26ª Reunião - 1º Congresso do CIMAGO, 2012.
  30. Ribeiro, I.P.; Marques, F.; Ferrão, José; Ferreira, S.I.; Julião, M.J.; Baptista, I.P.; Melo, JB; Carreira, I.M.. "Genomic profile in the oral cancer diagnosis: step by step…towards reality". Paper presented in Atualizações em Oncologia 2012, 26ª Reunião - 1º Congresso do CIMAGO, 2012.
  31. Ribeiro, I.P.; Marques, F.; Ferrão, José; Ferreira, S.I.; Julião, M.J.; Baptista, I.P.; Melo, JB; Carreira, I.M.. "Biomarkers in oral cancer: the border between the research and the clinical practice". Paper presented in One Day Symposium with Carlos Caldas, 2012.
  32. Ribeiro, IP; Marques, F; Baptista, IP; Ferreira, SI; Ferrão, José; Melo, JB; Carreira, IM. "Oral cancer: translating molecular genetic data into clinical practice - The contribution of array- CGH”". Paper presented in 16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2012.
  33. Carreira, IM; Ferreira, SI; Pires, LM; Ferrão, José; Jardim, A; Matoso, E; Melo, JB. "Oligonucleotide arrayCGH in a cohort of 500 patients with intellectual disability, multiple congenital anomalies, learning difficulties and autism spectrum disorders". Paper presented in 16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2012.
  34. Ferreira, SI; Pires, LM; Ferrão, José; Matoso, E; Ramos, L.; Saraiva, J; Melo, JB; Carreira, IM. "2p14 de novo deletion : a mosaic detected by aCGH in a female patient associated with microcephaly, abnormal growth and global development delay". Paper presented in 16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2012.
  35. Oliveira, R.; Venâncio, M; Ferrão, José; Carreira, IM; Saraiva, J; Ramos, L.. "Interstitial deletion of 15q21.3q22.2 – Does it hide a craniosynostosis gene?". Paper presented in 15ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2011.
  36. Ribeiro, IP; Marques, F; Baptista, IP; Jardim, A; Lavoura, N; Gomes, H; Ferrão, José; Ferreira, SI; Carreira, IM. "Evaluation of the genetic profile of oral carcinoma by MLPA: Preliminary results". Paper presented in XXXVI Jornadas Portuguesas de Genética, 2011.
  37. Pais, C; Mendes, C; Ferrão, José; Mascarenhas, A; Jardim, A; Paiva, P; Marques, I.; Ramos, L.; Carreira, IM. "A piece in the puzzle of chorionic villus sampling: our experience". Paper presented in 14ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2010.
  38. Pires, LM; Ferrão, José; Mendes, C; Oliveira, G; Ramos, F; Saraiva, J; Carreira, IM. "Microdeletion and microduplication screening in 116 patients with clinical features of 22q11DS, development delay and autism". Paper presented in 14ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2010.
  39. Pinto, MC; Ferreira, SI; Ferrão, José; Matoso, E; Galhano, E; Ramos, L.; Carreira, IM. "The hidden whY". Paper presented in 14ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2010.
  40. Ferreira, SI; Ferrão, José; Mendes, C; Jardim, A; Mascarenhas, A; Carreira, IM. "How a 46,XX MLPA result turns into a 69,XXX: Beyond maternal cell contamination in chorionic villus samples". Paper presented in 14ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2010.
  41. Correia, T.; Freire, P; Portela, F; Ferrão, José; Donato, MM; Ferreira, M.; Andrade, P; Sofia, C. "Mutações do Gene CARD15 e Fístulas Perianais na Doença de Crohn: Correlação e Valor Preditivo da Resposta aos Antibióticos". Paper presented in Primeiro Congresso Ibérico de Coloproctologia / XIV Reunião Nacional da Associação Espanhola de Coloproctologia / XIX Congresso da Sociedade Portuguesa de Coloproctologia, 2010.
  42. Matoso, E; Ferrão, José; Jardim, A; Melo, JB; Sousa, S.; Saraiva, J; Carreira, IM. "Molecular and clinical characterization of the 22q13.3 deletion syndrome: 3 new cases report". Paper presented in 13ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2009.
  43. Ferrão, José; Matoso, E; Cabrita, R; Maia, S; Saraiva, J; Carreira, IM. "Diagnóstico Subtelomérico em Atraso Mental por MLPA (Mais Longe a Preço Acessível)". Paper presented in 13ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2009.
  44. Pinto, M; Oliveira, G; Lavoura, N; Simões, L; Almeida, J; Duque, F; Ferrão, José; Carreira, IM. "Familial chromosome 5p terminal deletion, redefined by array-CGH, with a broad neurodevelopmental disorder but no Cri du Chat syndrome". Paper presented in 13ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2009.
  45. Pinto, M; Simões, L; Ferrão, José; Melo, JB; Sá, J.; Venâncio, M; Ramos, L.; Carreira, IM. "Same Karyotypes With Different Sexual Phenotypes: two cases with a mosaic derivative of Y chromosome". Paper presented in 11ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2007.
  46. Freire, P; Portela, F; Ferrão, José; Donato, MM; Sousa, HT; Ferreira, M.; Andrade, P; Leitão, MC. "CARD15 Gene Mutations And Inflammatory Bowel Disease In A South European Country: Incidence And Genotype-Phenotype Analysis". Paper presented in 15th United European Gastroenterology Week, 2007.
  47. Ferrão, José; Paiva, P; Simões, L; Oliveira, G; Carreira, IM. "Um Olhar FISH sobre o Autismo". Paper presented in 10ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2006.
  48. Matoso, E; Ferrão, José; Venâncio, M; Saraiva, J; Liehr, T; Carreira, IM. "Mosaicismo invulgar de uma delecção 4p é revelado pela FISH". Paper presented in 10ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2006.
Journal article
  1. Catarina Silva; Miguel P. Machado; Jose Ferrao; Antonio Sebastião Rodrigues; Vieira L. "Whole human genome 5’-mC methylation analysis using long read nanopore sequencing". Epigenetics 17 13 (2022): 1961-1975. http://dx.doi.org/10.1080/15592294.2022.2097473.
    10.1080/15592294.2022.2097473
  2. Vieira, Luís; Silva, Catarina; Duarte, Sílvia; Mendonça, Joana; Carpinteiro, Dina; Sampaio, Daniel A.; Ferrão, José; et al. "Avaliação do desempenho de uma core-facility de sequenciação genómica especializada em saúde pública". Boletim Epidemiológico Observações 11 31 (2022): 55-63. http://hdl.handle.net/10400.18/8027.
  3. Correia, Ana M; Borges, Vítor; Isidro, Joana; Lima, Ana R; Fernandes, Alberto; Godinho, Maria Leonor; Duarte, Sílvia; et al. "Potential recurrence of COVID-19 in a healthcare professional: SARS-CoV-2 genome sequencing confirms contagiousness after re-positivity". International Journal of Infectious Diseases 112 (2021): 318-320. http://dx.doi.org/10.1016/j.ijid.2021.09.035.
    Open access • Published • 10.1016/j.ijid.2021.09.035
  4. David, S; Correia, V; Antunes, L; Faria, R; Ferrão, José; Faustino, P; Nunes, B; et al. "Variantes genéticas do gene IFITM3 revelam um potencial modificador da gravidade sintomática da gripe". Boletim Epidemiológico Observações 7 23 (2018): 19-26. http://www.insa.min-saude.pt/category/informacao-e-cultura-cientifica/publicacoes/boletim-epidemiologico-observacoes-numero-23/.
    Published
  5. Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; et al. "Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia". Annals of Hematology 96 11 (2017): 1921-1929. http://dx.doi.org/10.1007/s00277-017-3090-y.
    10.1007/s00277-017-3090-y
  6. David, Susana; Correia, Vanessa; Antunes, Liliana; Faria, Ricardo; Ferrão, José; Faustino, Paula; Nunes, Baltazar; et al. "Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity". Immunogenetics 70 3 (2017): 169-177. http://dx.doi.org/10.1007/s00251-017-1026-2.
    10.1007/s00251-017-1026-2
  7. Peixoto, Sara; Melo, Joana B.; Ferrão, José; Pires, Luís M.; Lavoura, Nuno; Pinto, Marta; Oliveira, Guiomar; Carreira, Isabel M.. "MLPA analysis in a cohort of patients with autism". Molecular Cytogenetics 10 1 (2017): http://dx.doi.org/10.1186/s13039-017-0302-z.
    10.1186/s13039-017-0302-z
  8. Carreira, Isabel Marques; Ferreira, Susana Isabel; Matoso, Eunice; Pires, Luís Miguel; Ferrão, José; Jardim, Ana; Mascarenhas, Alexandra; et al. "Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients". Molecular Cytogenetics 8 1 (2015): http://dx.doi.org/10.1186/s13039-015-0202-z.
    10.1186/s13039-015-0202-z
  9. Matoso, Eunice; Ramos, Fabiana; Ferrão, José; Pires, Luís M; Mascarenhas, Alexandra; Melo, Joana B; Carreira, Isabel M. "Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth". Molecular Cytogenetics 7 1 (2014): http://dx.doi.org/10.1186/s13039-014-0087-2.
    10.1186/s13039-014-0087-2
  10. Gomes, S.; Almeida, J; Ferrão, José; Matoso, Eunice; Carreira, Isabel Marques; Oliveira, Guiomar. "Patologia do neurodesenvolvimento por anomalia cromossómica da região crítica do cromossoma 15(q11-q13) – relação genótipo-fenótipo". Acta Pediátrica Portuguesa 41 2 (2014): 92-97.
    Open access • Published
  11. Ribeiro, I.P.; Marques, F.; Caramelo, F.; Ferrão, J.; Prazeres, H.; Julião, M.J.; Rifi, W.; et al. "Genetic imbalances detected by multiplex ligation-dependent probe amplification in a cohort of patients with oral squamous cell carcinoma - The first step towards clinical personalized medicine". Tumor Biology 35 5 (2014): 4687-4695. http://www.scopus.com/inward/record.url?eid=2-s2.0-84902952957&partnerID=MN8TOARS.
    10.1007/s13277-014-1614-9
  12. Ribeiro, Ilda Patrícia; Marques, Francisco; Caramelo, Francisco; Pereira, João; Patrício, Miguel; Prazeres, Hugo; Ferrão, José; et al. "Genetic gains and losses in oral squamous cell carcinoma: impact on clinical management". Cellular Oncology 37 1 (2013): 29-39. http://dx.doi.org/10.1007/s13402-013-0161-5.
    10.1007/s13402-013-0161-5
  13. Ferreira, Susana Isabel; Pires, Luís Miguel; Ferrão, José; Sá, Joaquim; Serra, Armando; Carreira, Isabel Marques. "Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event". Gene 527 1 (2013): 421-425. http://dx.doi.org/10.1016/j.gene.2013.05.079.
    10.1016/j.gene.2013.05.079
Online resource
  1. Ferrão, José; Vieira, Luís. Course material - "Iniciação à Programação em Python para profissionais da Saúde". 2024. https://github.com/josealvesferrao/curso_python.
  2. Ferrão, José; Sobral, Daniel; Martiniano, Hugo; Vieira, Luís. Course material - "Análise computacional e bioinformática de variantes em doença genética". 2024. https://github.com/josealvesferrao/curso_bioinformatica.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/12/03 Clinical exome – Identification of the molecular etiology of genetic diseases Seminários do DGH 2023
Instituto Nacional de Saúde Doutor Ricardo Jorge (Lisboa, Portugal)
2023/11/03 Transcriptomic signatures in senescence regulation CNC Seminars
Centro de Neurociências e Biologia Celular (Coimbra, Portugal)
2021/03/03 Transcriptomic signatures of the INK4A/ARF locus in senescence regulation and cancer Oncobiology Club (iMM Seminar)
Instituto de Medicina Molecular (Lisboa, Portugal)
2017/11/23 Espectro clínico do síndrome X-Frágil, gene FMR1 e implementação do diagnóstico molecular (Clinical spectrum of fragile X syndrome, FMR1 gene and implementation of molecular diagnostic test) Seminários DGH 2017
Instituto Nacional de Saúde Doutor Ricardo Jorge (Lisboa, Portugal)
2014/01/30 Chromosome 15q11.2 imbalances detected by array-CGH in a cohort of 1000 patients with developmental disorders Atualizações em Oncologia 2014 - 3º Congresso do CIMAGO
CIMAGO (Coimbra, Portugal)
2013/01/25 Head and neck cancer: From the genotype to phenotype and their implications Atualizações em Oncologia 2013, 27ª Reunião - 2º Congresso do CIMAGO
CIMAGO (Coimbra, Portugal)
2013/01/24 The promise of a non-invasive methodology to follow-up the patients treated for oral cancer – Which is the impact in the clinical practice? Atualizações em Oncologia 2013, 27ª Reunião - 2º Congresso do CIMAGO
CIMAGO (Coimbra, Portugal)
2013/01/23 Oligonucleotide array-CGH as a first tier test for the diagnosis of patients with intellectual disability, multiple congenital anomalies and autism spectrum disorders Atualizações em Oncologia 2013, 27ª Reunião - 2º Congresso do CIMAGO
CIMAGO (Coimbra, Portugal)
2012/10/26 Genomic profile in the oral cancer diagnosis: step by step…towards reality 2nd PF2MUC Symposium Changing Paradigms of Science
Fórum de Pós-docs da Faculdade de Medicina da Universidade de Coimbra (Coimbra, Portugal)
2012/01/25 Follow-up of the patients treated for oral cancer by a non-invasive methodology: Pilot study Atualizações em Oncologia 2012, 26ª Reunião - 1º Congresso do CIMAGO
CIMAGO (Coimbra, Portugal)
2011/11/10 Whole genome oligonucleotide array-CGH in a diagnostic laboratory setting: One year experience 15th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
2010/11/18 Ser ou não ser uma CNV, como interpretar a questão no MLPA (To be or not be a CNV, that is the question to interpret in MLPA) 14th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana (Coimbra, Portugal)
2009/11/19 FISHing in Autism with MLPA 13th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana (Porto, Portugal)
2008/10/30 FISH spots microdeletion in heart defects INCOMAM’08, International Conference on Microscopy and Microanalysis / 43rd Annual Meeting of the Portuguese Society for Microscopy
Sociedade Portuguesa de Microscopia (Porto, Portugal)
2007/06/06 Mutações do gene CARD15 na doença inflamatória intestinal: incidência e análise genótipo-fenótipo (CARD15 gene mutations in inflammatory bowel disease: incidence and genotype-phenotype association) 27th Annual Conference of Gastroenterology and Digestive Endoscopy
Sociedade Portuguesa de Gastrenterologia (SPG); Sociedade Portuguesa de Endoscopia Digestiva (SPED) (Vilamoura, Portugal)
2006/11/23 Um Olhar FISH sobre o Autismo (A FISH glimpse over autism) 5th Conference of Research in Medicine - Pedagogy and Science
Núcleo de Estudantes de Medicina - Universidade de Coimbra (Coimbra, Portugal)

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2024/03/07 - 2024/03/08 Conference on Bioinformatics applied to life sciences, focused on personalized medicine and clinical bioinformatics.
Conference
 Applied Bioinformatics in Life Sciences (5th Edition)
Vlaams Instituut voor Biotechnologie, Belgium
2023/11/23 - 2023/11/25 Annual meeting in human genetics, share and discuss results in research, diagnosis, prognosis and public health, as well as to discuss ethical issues. International speakers are also present.
Congress
 27th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana, Portugal
2023/11/17 - 2023/11/17 3rd Symposium of the National Research Infrastructure for Genome Sequencing and Analysis. Scientific and technological developments in Genomics, focused on the use of next generation sequencing technologies and computational data analysis methods to address diverse scientific questions.
Symposium
 3rd Symposium of the National Research Infrastructure for Genome Sequencing and Analysis
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2023/05/26 - 2023/05/26 Gene expression made useful easily: tools and database of Bgee. Retrieve curated gene expression, obtain expression-based knowledge on genes of interest, or compare expression between genes and between species
Workshop
 Gene expression made useful easily: tools and database of Bgee
Swiss Institute of Bioinformatics, Switzerland
2023/02/20 - 2023/02/21 NGS - Genome Variant Analysis. Covers the steps from read alignment to variant calling and annotation, focused on the detection of germline mutations by following the GATK best practices.
Workshop
 NGS - Genome Variant Analysis
Swiss Institute of Bioinformatics, Switzerland
2021/02/15 - 2021/02/19 Next Generation Sequencing - Bioinformatics. Introduction to the technology, analysis workflows, tools and resources for next generation sequencing data analysis. Insights into how biological knowledge can be derived from genomics experiments and explain different approaches to analysing such data.
Other
 Next Generation Sequencing - Bioinformatics
EMBL Heidelberg Genome Biology, Germany

European Bioinformatics Institute, United Kingdom
2019/11/15 - 2019/11/18 Training course on NP EN ISO 15189:2014 standards and requirements for quality management systems and competence in Clinical Laboratories
Other
 NP EN ISO 15189:2014
Serga, Portugal
2019/09/19 - 2019/09/19 Bioinformatics seminar
Seminar
 Bioinformatics: a Servant or the Queen of Molecular Biology?
Universidade de Lisboa Instituto Superior Técnico, Portugal
2017/12/15 - 2017/12/15 Rare diseases symposium
Symposium
 Simpósio Doenças Raras 2017 - Com a investigação, um mundo de possibilidades
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017/11/06 - 2017/11/09 Metrology training course
Other
 Curso de Metrologia
Serga, Portugal
2017/05/27 - 2017/05/30 International conference in Human Genetics, broad and current knowledge of advanced technological and scientific level. Sessions with leading scientists in the field.
Conference
 European Human Genetics Conference 2017
European Society of Human Genetics, Austria
2017/01/17 - 2017/01/17 Polyglutamine(polyQ) diseases
Seminar
 CAG repeat translational fidelity as a therapeutic avenue for treating polyglutamine disease
Universidade de Lisboa Faculdade de Ciências, Portugal
2017 - 2017 Genetic defects in Mitochondrial diseases - NGS approach
Seminar
 Defeitos genéticos das doenças mitocôndrias: Abordagem por sequenciação de nova geração
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 Structural chromosomal rearrangements
Seminar
 Challenges in genotype-phenotype association of simple and complex structural chromosomal rearrangements
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 Gain of function mutations in p53
Seminar
 About the origin of mutant p53 "Gain-of-functions"
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 Chromosomal arrays in prenatal diagnosis
Seminar
 Chromosomal arrays in prenatal diagnosis - a continously changing landscape
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 Neonatal screening of metabolic diseases in Portugal
Seminar
 Impacto dos 2nd tier tests na otimização do rastreio neonatal de doenças metabólicas em Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 NGS gene panel for lysosomal storage diseases
Seminar
 Development of a next-generation sequencing (NGS) gene panel for lysosomal storage diseases
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 RAC1/PAK1 signalling in colorectal cancer
Seminar
 Upregulation of RAC1/PAK1 signalling promotes DNA damage repair in colorectal cancer cells
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 Concordance of variants detected by NGS and sanger sequencing
Seminar
 Concordance between variants detected by clinical exome, gene panel and sanger sequencing
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2017 Azoospermy and TEX11 mutations
Seminar
 Caracterização do gene TEX11 em homens azoospérmicos
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016/11/10 - 2016/11/12 Annual meeting in human genetics, share and discuss results in research, diagnosis, prognosis and public health, as well as to discuss ethical issues. International speakers are also present.
Meeting
 20th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana, Portugal
2016/07/04 - 2016/07/06 Presentation and discussion of the main scientific and technological activity in Portugal.
Meeting
 Ciência 2016 - Science and Technology in Portugal Meeting
Fundação para a Ciência e a Tecnologia, Portugal

Ciência Viva, Portugal

Serga, Portugal
2016/06/29 - 2016/06/29 Discussion of molecular mechanisms underlying brain diseases such as stroke, autism, ageing and neurodegenerative diseases.
Symposium
 Symposium: Understanding the molecular brain in health and disease
Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2016 Regulation of multimeric proteins
Seminar
 Regulatory pathways of multimeric protein subunit synthesis and assembly
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Genotype-phenotype association in structural chromossomal rearrangements
Seminar
 Identificação e correlação genótipo-fenótipo de alterações cromossómicas estruturais: uma revisão
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Lysosomes and LIMP-2 deficiency
Seminar
 Impact of LIMP-2 deficiency on lysosome composition and function
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 mRNA metabolim (Non-canonical translation initiation)
Seminar
 Non-canonical translation initiation in the human UPF1 mRNA
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Fanconi anemia
Seminar
 Anemia de Fanconi - Estudo retrospetivo de 34 anos
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Metabolic diseases - Pseudoxanthoma elasticum
Seminar
 Mineralização ectópica e pseudoxantoma elástico (PXE): um novo paradigma de doença metabólica
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Mycotoxins in food
Seminar
 Mixtures toxicology: Mycotoxins in food as a case study
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 NGS gene panel for breast and colorectal cancer
Seminar
 Validação da sequenciação de nova geração de um painel de genes de susceptibilidade para cancro da mama e cancro colorectal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Molecular and bioinformatic approach in Wilms tumor
Seminar
 Novas abordagens moleculares e bioinformáticas no estudo dos tumores de Wilms
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 CRISPR/CAS9 gene therapy in beta-thalassemia
Seminar
 Editing an alpha-globin enhancer using CRISPR/CAS9 - a new approach to therapy for beta-thalassemia
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Regulation of alternative splicing in colon cancer
Seminar
 Regulation of alternative splicing by signal transduction pathways: Lessons from studying variant RAC1b in colon cancer
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Biomarkers discovery in Proteomics
Seminar
 Proteomics in obstructive sleep apnea - Biomarkers discovery
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Obstructive sleep apnea
Seminar
 Síndrome de apneia obstrutiva do sono
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Diseasome
Seminar
 Diseasome, network medicine, what else?...
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 mRNA metabolism - Translational regulation by mTOR
Seminar
 Internal ribosome entry site-mediated translational regulation of mammalian target of rapamycin (mTOR)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Genotoxicity evaluation of nanomaterials
Seminar
 An approach to the genotoxicity evaluation of nanomaterials using in vitro cell models
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Mitochondrial diseases and NGS
Seminar
 Genetic defects of mitochondrial diseases: a next generation sequencing approach
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Non-invasive prenatal screening
Seminar
 Tendências actuais do diagnóstico pré-natal: O papel do rastreio pré-natal não invasivo (NIPT)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Newborn screening for cystic fibrosis
Seminar
 Estudo piloto para o rastreio neonatal da fibrose quística
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Familial amyloidotic polyneuropathy
Seminar
 Dissecting the role of amyloid fibril deposition in the kidney in familial amyloidotic polyneuropathy
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Protein folding diseases
Seminar
 When proteins misbehave: Diseases of protein folding
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Hereditary breast cancer and NGS
Seminar
 Aplicação da sequenciação de nova geração ao diagnóstico genético do cancro da mama hereditário
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Lynch syndrome
Seminar
 Síndrome de Lynch - Diretivas vigentes e perspetivas futuras
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Sickle cell anemia - Stroke risk
Seminar
 Stroke risk in children with sickle cell anemia - the importance of genetic modulators of hemolysis
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2016 Cystic fibrosis treatment
Seminar
 Estudos dos efeitos do tratamento com rhHGF de células epiteliais no contexto da fibrose quística: Avaliação das propriedades regenerativas versus oncogénicas
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2014/11/27 - 2014/11/28 Health projects on Rare Diseases
Workshop
 EUCERD Joint Action Workshop: Monitoring and Evaluation of Health Projects on Rare Diseases
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2014/09/18 - 2014/09/18 Genomics meeting - Technical and scientific updates
Meeting
 User Meeting de Genómica
Soquímica, Portugal

Agilent Technologies France, France

Universidade de Coimbra Faculdade de Medicina, Portugal
2013/06/08 - 2013/06/11 International conference in Human Genetics, broad and current knowledge of advanced technological and scientific level. Sessions with leading scientists in the field.
Conference
 European Human Genetics Conference 2013
European Society of Human Genetics, Austria
2013/05/14 - 2013/05/14 Sequencing
Other
 From Sample to Sequencing
ILC - Instrumentos de Laboratório e Científicos, Portugal
2012/11/05 - 2012/11/05 Researchers share and discuss work in diagnosis and research of human diseases. Technological updates in sequencing platforms and their applications in public health issues.
Meeting
 Next-Generation Sequencing Meeting - Applications in genetic and infectious diseases
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2012/09/27 - 2012/09/27 Genomics meeting - Technical and scientific updates
Meeting
 User Meeting de Genómica
Universidade de Coimbra Faculdade de Medicina, Portugal

ILC - Instrumentos de Laboratório e Científicos, Portugal

Agilent Technologies France, France
2012/07/05 - 2012/07/05 Microarray in Biomedicine
Workshop
 Workshop on Microarray Applications in Biomedicine
Biocant Associação de Transferência de Tecnologia, Portugal

ILC - Instrumentos de Laboratório e Científicos, Portugal
2011/07/02 - 2011/07/05 International conference in Cytogenetics and Cytogenomics fields, broad and current knowledge of advanced technological and scientific level. Sessions with leading scientists in the field.
Conference
 European Cytogenetics Conference 2011
European Cytogeneticists Association, France
2010/11/18 - 2010/11/20 Annual meeting in human genetics, share and discuss results in research, diagnosis, prognosis and public health, as well as to discuss ethical issues. International speakers are also present.
Meeting
 14th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana, Portugal
2010/11/12 - 2010/11/12 Molecular biology technical approachs
Other
 Roche PCR 2010
Roche Life Science, United States
2010/06/14 - 2010/06/17 CGH microarray
Workshop
 Agilent CGH microarray training
Agilent Technologies France, France
2010/05/11 - 2010/05/12 Methylation Analysis
Workshop
 Methylation Analysis by Capillary Electrophoresis
Applied Biosystems Inc Foster City, United States
2009/11/19 - 2009/11/21 Annual meeting in human genetics, share and discuss results in research, diagnosis, prognosis and public health, as well as to discuss ethical issues. International speakers are also present.
Meeting
 13th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana, Portugal
2009/02/04 - 2009/02/06 Comparative genomic hybridization
Workshop
 Diagnóstico Molecular aCGH
ILC - Instrumentos de Laboratório e Científicos, Portugal

PerkinElmer Inc, United States
2006/11/10 - 2006/11/11 Annual meeting in human genetics, share and discuss results in research, diagnosis, prognosis and public health, as well as to discuss ethical issues. International speakers are also present.
Meeting
 10th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana, Portugal
2005/05/09 - 2005/05/11 Real-time PCR
Workshop
 Real-time PCR: basic principles and biomedical applications
Hospitais da Universidade de Coimbra Centro de Histocompatibilidade do Centro, Portugal
2004/04/03 - 2004/04/05 Portuguese National Meeting of Biology Students
Meeting
 VIII Encontro Nacional de Estudantes de Biologia
Associação Nacional de Estudantes de Biologia, Portugal

Núcleo de Estudantes de Biologia – Associação Académica de Coimbra, Portugal
2003/03/07 - 2003/03/07 Toxicity effects
Symposium
 Toxicidades: Noções do Nocivo
Núcleo de Estudantes de Biologia – Associação Académica de Coimbra, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2011/06/06 Subtelomeric rearrangements in intellectual disability (Diagnosis, recurrence risk and genetic counselling)
Supervisor
 Marta Isabel Tomás Brás (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal

Committee member

Activity description
Role 		Institution / Organization
2016 - Current Equipament manager of the Human Genetics Department
Coordinator
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2021 - 2024/10/22 Member of the technical committee for the management and security of the Institute´s cold room (biological samples long term storage)
Member
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2020 - 2020 Member of the local organization committee for 24th Annual Meeting of the Portuguese Society of Human Genetics, 2020
Member
 Sociedade Portuguesa de Genética Humana, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2024/12/02 - 2024/12/11 At the end of this course, trainees should be able to build small programs in Python and also to manage other functionalities of this programming language, in order to develop their programming capabalities. Iniciação à Programação em Python para profissionais da Saúde (Outros) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2024/06/24 - 2024/06/28 2nd Edition - Analysis of germline variants associated with genetic disease, in parallel with the practical analysis of real cases. Trainees learn how to use various computational and bioinformatics tools to treat and process sequencing data (NGS), from read files to variant annotation and prioritization. Análise computacional e bioinformática de variantes em doença genética - 2ª Edição (Outros) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2024/01/30 - 2024/02/02 1st Edition - Analysis of germline variants associated with genetic disease, in parallel with the practical analysis of real cases. Trainees learn how to use various computational and bioinformatics tools to treat and process sequencing data (NGS), from read files to variant annotation and prioritization. Análise computacional e bioinformática de variantes em doença genética - 1ª Edição (Outros) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2011/11/16 - 2011/11/16 From Genotype to Phenotype - Laboratory classes and clinical cases analysis Ciências da Saúde (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal
2011/10/07 - 2011/10/07 From Genotype to Phenotype - Theoretical class on Molecular Biology techniques Ciências da Saúde (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal
2011/06/29 - 2011/06/30 Human Genetics - Theoretical-practical class on Multiplex Ligation-dependent Probe Amplification Bioquímica (Mestrado integrado) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2010/11/16 - 2010/11/16 From Genotype to Phenotype - Laboratory classes and clinical cases analysis Ciências da Saúde (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal
2010/10/07 - 2010/10/07 From Genotype to Phenotype - Practical class on FISH and MLPA in the study of intellectual disability Ciências da Saúde (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal
2010/07/01 - 2010/07/02 Human Genetics - Theoretical-practical classes on Multiplex Ligation-dependent Probe Amplification Bioquímica (Mestrado) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2010/03/03 - 2010/03/03 Human Genetics - Human genome: from nucleotide to metabolomics Análises Clínicas (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2009/03/05 - 2009/03/05 Human Genetics - Human genome: from nucleotide to metabolomics Análises Clínicas (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal

Mentoring / Tutoring

Topic Student name
2019/03/15 - 2019/05/31 Internship in Human Genetics (Genetic diseases and mechanisms, molecular biology, cell culture, basic concepts in Bioinformatics). Yerai Romero Sabuquillo
2010/10 - 2011/07 Study of autism etiology through molecular genetics techniques. Tânia Sofia Trindade Afonso
2010/10 - 2011/07 Genetic profile of oral squamous cell carcinoma by MLPA. Ilda Patrícia Tavares da Silva Ribeiro
2010/10 - 2011/07 Identification of chromossomal rearrangements by MLPA, in fetus with ultrasound anomalies and normal karyotype. Sara Cristina Calejo Campos
2010/10 - 2011/07 Genotypic characterization of bladder cancer with FISH and MLPA. Vânia Rafaela Antunes das Neves
2009/10 - 2010/07 Genotype-phenotype association in autism spectrum disorders. Sara Cecília Carneiro Peixoto
2008/10 - 2009/07 Study of subtelomeric regions by MLPA in patients with intellectual disability. Rute Barreto Cabrita
2008/10 - 2009/07 Cytogenetic characterization of primary culture of human bladder carcinomas and detection of chromosomal rearrangements in urine samples by FISH. Andreia Costa

Other jury / evaluation

Activity description Institution / Organization
2024/05 - 2024/10 Jury member - Recruitment of a Bioinformatician for the Technology and Innovation Unit of the Human Genetics Department, Diário da República, Aviso 13415/2024/2, de 2 de julho Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017/12/07 - 2018/05/22 Jury member - Recruitment of Higher Laboratory Technicians for the Human Genetics Department, Diário da República, Aviso nº 14746/2017, de 7 de Dezembro. Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2018 - 2018 Jury member - Recruitment of Higher Laboratory Technicians for the Human Genetics Department, Diário da República, Aviso n.º 9808/2018 do DR, de 23 de julho. Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal