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RNA & Gene Regulation

Gene regulation is central to all biology. RNA molecules, with their ability to both encode information and exert catalytic activities, play a key role in the regulation of gene expression.

Our group aims to discover molecular pathways and mechanisms implicating RNA in human health and disease. More specifically, we study RNA splicing and its role in the regulation of gene expression in cancer and genetic diseases, and we are exploring new medical applications for RNA.

Research Team

Adriana Vieira
MSc Student

Ana Cláudia Bernardino Raposo
PhD Student

Beatriz Galvão
MSc Student

Carina Maranga
PhD Student

Catarina Alves do Vale

Catarina Ferreira
MSc Student

Christian G. Ramos
Senior Post-Doctoral Researcher

Cláudia Gil
Lab Technician

Cristiano Emanuel Ribeiro Esteves
BSc Student

Célia Carvalho
Staff Scientist

Dinora Levy
Administrative Technician

Evguenia Pavlovna Bekman
Senior Post-Doctoral Researcher

João Proença
Senior Post-Doctoral Researcher

Marcia Triunfol
Senior Post-Doctoral Researcher

Maria Joana Pinto Desterro
Staff Scientist

Maria João de Andrade Terras Arez
Lab Technician

Marta Furtado
MSc Student

Marta de Jesus Ribeiro
PhD Student

Miguel Guedes
MSc Student

Noélia Custódio
Staff Scientist

Patricia Napoleão
Senior Post-Doctoral Researcher

Patrícia da Cunha
President Assistant

Pedro António Pereira Prudêncio
PhD Student

Pedro Bak-Gordon
MSc Student

Pedro Santos Barbosa
PhD Student

Rosina Savisaar
Post-Doctoral Researcher

Rui Gonçalo Viegas Russo da Conceição Martinho
Visiting Researcher

Rui Luís
PhD Student

Samantha Mancino
Post-Doctoral Researcher

Sandra Cristina Bento Penisga Martins
Senior Post-Doctoral Researcher

Sandrina Nóbrega Pereira
Senior Post-Doctoral Researcher

Sara Castro
Lab Technician

Simão José Teixeira da Rocha
Staff Scientist

Tajda Klobucar
MSc Student

Teresa Carvalho
Staff Scientist

Teresa Maria Pereira da Silva
Post-Doctoral Researcher

Tomás Miguel Custódio dos Santos
MSc Student

Research Areas

  • Cell Biology
  • Genomics
  • RNA splicing
  • RNA in disease

Ongoing Research Projects

2014/2017  Epigenetics and alternative splicing: Role in immune T cell differenciation and leukemogenesis

2015/2020 Exploring the role of IncRNAs and chromatin modifying complexes for the establishment of defined chromatin states

2015/2020  The non-coding transcriptome in stemness and aging

2016/2017  Pesquisa de mutações nos genes IDH

2016/2019  The non-coding transcriptome in stemness and aging

2016/2019  Molecular constraints to pre-mRNA splicing in fast dividing cells

2016/2019  Making sense of antisense transcription

2016/2019  Comprehensive study of the dynamics of epigenetic processes involving lncRNAs during iPSC reprogramming

2016/2019  PRECISE: Accelarating progress toward the new era of precision medicine

2017/2021  LysoMod: Genetic and small molecule modifiers of Lysomomal Function

2017/2024  The Discoveries CTR: Implementation of the discoveries centre for regenerative and precision medicine, a new centre of excellence in Portugal


  • 2013 Prémio D. Antónia Ferreira (Portuguese award for Entrepreneurial women)
  • 2010 Prémio Pessoa (Portuguese award in Culture, Art and Sciences)
  • 2007 Gulbenkian Science Award (Fundação Calouste Gulbenkian, Portugal)
  • 2006 Amélia da Silva de Mello Prize for Health Sciences "Altered BMP signalling in a celular model of Oculophanryngeal Muscular Distrophy" (awarded to Patricia Calado, Sandra Caldeira, Anita Gomes, Ana Rita Grosso, Natalie Thorne, Maria Carmo-Fonseca)
  • 2005 Best poster presentation in the 5º Meeting of the European Light Microscopy Initiative (ELMI 2005) (awarded to J. Rino)
  • 2005 Young Investigator Award - Sociedade Portuguesa de Genética Humana- (awarded to P. Calado)
  • 2004 Estímulo à Ciência Award - Fundação Ciência e Tecnologia (awarded to M. Carmo-Fonseca)
  • 2004 Young Investigator Award - Sociedade Portuguesa de Genética Humana (awarded to A. Gomes)
  • 2004 L'Oreal Portugal/Unesco Award For Women in Science (awarded to M. Gama-Carvalho)

Selected Publications

  • Nojima T, Gomes T, Grosso AR, Kimura H, Dye MJ, Dhir S, Carmo-Fonseca M, and Proudfoot N. (2015) Mammalian NET-seq reveals genome-wide nascent transcription coupled to RNA processing. Cell 161: 526-540. (Journal IF 32.2; Citations: 131)
  • Martin, RM, Rino, J, Carvalho, C, Kirchhausen, T, Carmo-Fonseca, M. (2013) Live-cell visualization of pre-mRNA splicing with single-molecule sensitivity. Cell Reports 4 (6): 1144-1155. (Journal IF 8.3; Citations: 70)
  • de Almeida, SF, Grosso, AR, Koch, F, Fenouil, R, Carvalho, S, Andrade, J, Levezinho, H, Gut, M, Eick, D, Gut, I, Andrau, JC, Ferrier P, Carmo-Fonseca, M (2011) Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36. Nature Struct. Mol. Biol. 18 (9): 977-983. (Journal IF 13.3; Citations: 175)
  • Martins, SB, Rino, J., Carvalho, T., Carvalho, C., Yoshida, M., Klose JM, de Almeida, SF, Carmo-Fonseca, M. (2011) Spliceosome assembly is coupled to RNA polymerase II dynamics at the 3’ end of human genes. Nature Struct. Mol. Biol. 18 (10): 1115-1123. (Journal IF 13.3; Citations: 62)
  • Grosso, A.R., Gomes, A.Q., Barbosa-Morais, N.L., Caldeira, S., Thorne, N.P., Grech, G., von Lindern, M., and Carmo-Fonseca, M (2008) Tissue-specific splicing factor gene expression signatures. Nucleic Acids Research 36: 4823-32. (Journal IF 9.1; Citations: 116)
group leader :
Maria Carmo-Fonseca