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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

Christian G. Ramos
Senior Postdoctoral Researcher

Cláudia Gil
Lab Technician

Cristiano Emanuel Ribeiro Esteves
BSc Student

Célia Carvalho
Staff Scientist

Dinora Levy
Administrative Technician

Evguenia Pavlovna Bekman
Senior Postdoctoral Researcher

João Proença
Senior Postdoctoral 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

Noélia Custódio
Staff Scientist

Patricia Napoleão
Senior Postdoctoral Researcher

Patrícia da Cunha
President Assistant

Pedro António Pereira Prudêncio
PhD Student

Pedro Bak-Gordon
MSc Student

Pedro Santos Barbosa
PhD Student

Rosina Savisaar
Postdoctoral Researcher

Rui Gonçalo Viegas Russo da Conceição Martinho
Visiting Researcher

Rui Luís
PhD Student

Samantha Mancino
Postdoctoral Researcher

Sandra Cristina Bento Penisga Martins
Senior Postdoctoral Researcher

Sandrina Nóbrega Pereira
Senior Postdoctoral 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
Postdoctoral Researcher

Tomás Miguel Custódio dos Santos
MSc Student

Beatriz Gomes da Silva

Research Areas

  • Cell Biology
  • Genomics
  • RNA Splicing
  • RNA in Disease
  • Epigenetics

Ongoing Research Projects

2019/2022 RNA in disease (RiboMed). Funded by the European Union’s Horizon 2020 research and innovation programme, grant agreement No 857119.

2018/2021 COST action CardioRNA: Catalysing transcriptomics research in cardiovascular disease (CA17129).

2018/2021 Deciphering the epigenetic aging barriers for iPSC reprogramming.

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

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

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.


  • 2018 Prémio Aboim Sande Lemos - Identidade Portuguesa.
  • 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 cellular model of Oculopharyngeal Muscular Dystrophy" (awarded to P. Calado, S. Caldeira, A. Gomes, A. R. Grosso, N. Thorne, M. 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).
  • 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

  • Desterro J, Bak-Gordon P, and Carmo-Fonseca M. (2019) Targeting mRNA processing as an anticancer strategy. Nat Rev Drug Discov.
  • Bousard A, Raposo AC, Żylicz JJ, Picard C, Pires VB, Qi Y, Gil C, Syx L, Chang HY, Heard E, and da Rocha ST. The role of Xist-mediated Polycomb recruitment in the initiation of X-chromosome inactivation. (2019) EMBO Rep. 20 (10): e48019.
  • Nojima T, Rebelo K, Gomes T, Grosso AR, Proudfoot NJ, and Carmo-Fonseca M. RNA Polymerase II Phosphorylated on CTD Serine 5 Interacts with the Spliceosome during Co-transcriptional Splicing. (2018) Mol Cell. 72 (2): 369-379.
  • Bernardes de Jesus B, Marinho SP, Barros S, Sousa-Franco A, Alves-Vale C, Carvalho T, and Carmo-Fonseca M. (2018) Silencing of the lncRNA Zeb2-NAT facilitates reprogramming of aged fibroblasts and safeguards stem cell pluripotency. Nat Commun. 9 (1): 94.
  • Schlackow M, Nojima T, Gomes T, Dhir A, Carmo-Fonseca M, and Proudfoot NJ. (2016) Distinctive Patterns of Transcription and RNA Processing for Human lincRNAs. Mol Cell. 65 (1): 25-38.
  • Nojima T, Gomes T, Carmo-Fonseca M, and Proudfoot NJ. (2016) Mammalian NET-seq analysis defines nascent RNA profiles and associated RNA processing genome-wide. Nat Protoc. 11 (3): 413-428.
  • 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 (3): 526-540.
  • 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.
group leader :
Maria Carmo-Fonseca