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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
Lab Technician

Alípio Gomes
MSc Student

Ana C. C. Lopes
MSc Student

Ana Carolina Pais

Ana Cláudia Bernardino Raposo
PhD Student

Beatriz Galvão
Lab Technician

Beatriz Gomes da Silva
PhD Student

Beatriz Lima

Carina Maranga
PhD Student

Catarina Alves do Vale

Catarina Noronha Ribeiro

Christian G. Ramos
Senior Postdoctoral Researcher

Cristiano Emanuel Ribeiro Esteves
BSc Student

Célia Carvalho
Staff Scientist

Dinora Levy
Administrative Technician

Eunice Gonçalves
MSc Student

Evguenia Pavlovna Bekman
Senior Postdoctoral Researcher

Francisca Silva

João Proença
Senior Postdoctoral Researcher

Laura Dias
MSc Student

Maria Arez
PhD Student

Maria Joana Pinto Desterro
Staff Scientist

Marta Furtado
PhD Student

Marta de Jesus Ribeiro
PhD Student

Michelle Xavier
Lab Technician

Noélia Custódio
Staff Scientist

Patricia Napoleão
Senior Postdoctoral Researcher

Patrícia da Cunha
President Assistant

Pedro Bak-Gordon

Pedro Prudêncio
Postdoctoral Researcher

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 Martins
Senior Postdoctoral Researcher

Sara Castro
Lab Technician

Simão José Teixeira da Rocha
Staff Scientist

Teresa Carvalho
Staff Scientist

Teresa P. Silva
Senior Technician

Thais Souza
MSc Student

Tomás Miguel Custódio dos Santos
MSc Student

Research Areas

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

Ongoing Research Projects

2020/2023 spliceHCM - RNA mis-splicing in hypertrophic cardiomyopathy: opportunities for diagnosis and therapy. Coordinator: Maria Carmo-Fonseca. Funding Agency: “la Caixa” Foundation.

2020/2022 From co-transcriptional splicing kinetics to the evolutionary impact of exon and intron definition. Coordinator: Rosina Savisaar. Funding Agency: European Commission.

2020/2021 Exploring new therapeutic strategies for Angelman syndrome: A disease modelling approach based on 3D cerebellar organoids derived from patient iPSCs. Coordinators: Simão Teixeira da Rocha and Evguenia Bekman. Funding Agency: Fundação Amélia de Mello.

2020/2021 Assessing response to splicing inhibitor sulfonamides in cultured primary human AML cells. Coordinator: Maria Carmo-Fonseca. Funding Agency: Gilead Sciences.

2020/2021 AbbVie Inc - Material Transfer Agreement. Coordinator: Maria Carmo-Fonseca. Funding Agency: AbbVie Inc.

2019/2022 RNA in disease – RiboMed. Coordinator: Maria Carmo-Fonseca. Funding Agency: European Commission.

2018/2021 O papel dos RNAs não-codificantes longos (lncRNAs) na adaptação molecular e metabólica do cancro da mama. Coordinator: Bruno Jesus. Funding Agency: Fundação para a Ciência e a Tecnologia.

2018/2021 CEREBREX: Desenvolvimento de organóides cerebelares para investigação de ataxias. Coordinator: Maria Carmo-Fonseca. Funding Agency: Fundação para a Ciência e a Tecnologia.

2018/2021 BRCA_RNA: Organóides com edição génica para estudar o impacto funcional de mutações BRCA1 e BRCA2. Coordinator: Maria Carmo-Fonseca. Funding Agency: Fundação para a Ciência e a Tecnologia.

2018/2021 As barreiras epigenéticas do envelhecimento na reprogramação celular. Coordinator: Simão Rocha. Funding Agency: Fundação para a Ciência e a Tecnologia.

2017/2024 The Discoveries CTR: Implementation of the discoveries centre for regenerative and precision medicine, a new centre of excellence in Portugal. Coordinator: Maria Carmo-Fonseca. Funding Agency: European Commission.

2017/2021 LysoMod: Genetic and small molecule modifiers of Lysomomal Function. Coordinator: Maria Carmo-Fonseca. Funding Agency: European Commission.

2016/2021 Precise - Promoção do avanço significativo do conhecimento na área de medicina de precisão e sua translação para benefício da sociedade. Coordinator: Maria Carmo-Fonseca. Funding Agency: Fundação para a Ciência e a Tecnologia.


2020 Elected President of the RNA Society 2021/22.

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