The Disease Transcriptomics Lab, led by Nuno Barbosa-Morais, was created at the iMM in 2015.

We are a group of researchers applying mostly computational approaches, particularly those involving the analysis of high-throughput genomic and transcriptomic data, to fundamental questions in biomedical research. We have a long-term interest in the systems-level transcriptional regulation underlying mammalian cell specification, often perturbed in disease. We aim to understand how RNA-level (transcription initiation, splicing, etc) changes in (mostly) human tissues increase proneness to diseases, namely cancer, neurodegenerative disorders and other ageing-related pathologies. We thereby aim to identify molecular targets for functional exploration in vitro and in vivo. We also combine molecular and clinical information for the unveiling of novel candidate prognostic factors and therapeutic targets. Along the way, we develop some tools for assisting non-computational scientists in their analyses of transcriptomic data.

We are members of the RiboMed (RNA in disease) project and we lead iMM's participation in GenomePT (a distributed genome sequencing and analysis infrastructure) and (the Portuguese distributed infrastructure for biological data and the Portuguese ELIXIR node), both integrated in the Portuguese Roadmap of Research Infrastructures. Nuno also coordinates the Computational Biology efforts of the iMM-Laço Hub.

Please get in touch (nmorais[at]medicina[dot]ulisboa[dot]pt) if you are interested in our work and consider being part of our team. Please also check the contact page for more details.
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Highlights and recent news

March 2024: the Version of Record of our article on voyAGEr, our web app for exploratory analyses of age-related gene expression alterations in human tissues, is now published in eLife.

February 2024: our article on betAS, our web app for intuitive analysis and visualisation of differential alternative splicing, is now published online in RNA.

May 2023: Nuno A. brilliantly defended his PhD Thesis!

March 2023: Francisca started her PhD in our Lab, being part of the LisbonBioMed program.

January 2023: Jacek, the lead computational biologist at AccelBio, with whom we will be collaborating in the coming years, joined our Lab.

August 2022: We have launched a new Tools website!

March 2022: Rita and Alex started their PhDs in our Lab, being part of the LisbonBioMed program.

October 2021: Nuno was in Bordeaux as an instructor at the Cajal Training course on Ageing Cognition.

May 2021: our collaborations with the Garinis Lab on how splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing and with the Bernardes Lab on how allosteric antagonist modulation of TRPV2 by Piperlongumine impairs Glioblastoma progression are now published.

April 2021: Mariana was one of the scientists involved in the “Conversas com Cientistas – Décadas de Ciência para Dias de Vacinas” campaing, that aimed at explaing COVID-19 vaccines to the general public.

March 2021: Marie brilliantly defended her PhD Thesis! Here is a sketch in her own words:

December 2020: Marie's article "Unraveling Targetable Systemic and Cell-Type-Specific Molecular Phenotypes of Alzheimer's and Parkinson's Brains With Digital Cytometry" has just been published.

September 2020: Marta has been awarded an FCT PhD Scholarship to start her PhD with us in May.

January 2020: Our article/book chapter "Interactive Alternative Splicing Analysis of Human Stem Cells Using psichomics" has just been published.

November 2019: Nuno was awarded a 6-year Assistan Researcher contract in FCT's Individual Call to Scientific Employment Stimulus.

September 2019: Mariana won the 1st prize of the Young ICSA Poster Award at the ICSA 2019 conference – “Cellular Senescence: the bright & dark side” in Athens.

September 2019: Our collaborative effort with the Elliott Lab on alternative splicing patterns in prostate cancer has just been published by eLife.

March 2019: Our article "Pan-cancer association of a centrosome amplification gene expression signature with genomic alterations and clinical outcome" has just been published by PLoS Computational Biology.

January 2019: The talent of our Lab's students goes way beyond Science. Have a look at this video-performance, prepared for the iMM Got Talent show, part of the iMM Christmas party. Those doing research in Portugal may relate to it...

October 2018: Our article "psichomics: graphical application for alternative splicing quantification and analysis" has just been published by Nucleic Acids Research.

July 2017: Nuno Agostinho has been awarded an FCT PhD Scholarship to start his PhD with us in September.

5 April 2017: Our review article "Alternative splicing: the pledge, the turn, and the prestige - The key role of alternative splicing in human biological systems" has just been published by Human Genetics!

Pre-Twitter archive

26 June 2017: Bernardo presented a poster at the 3rd EACR Conference on Cancer Genomics in Cambridge, UK.

29 May 2017: Nuno gave a lecture at the ReTuBi Summer School 2017 (Lisbon, Portugal).

28 May 2017: Nuno gave a lecture at the IHMT PhD students Retreat (Sesimbra, Portugal).

5 April 2017: Nuno gave a seminar at CEDOC.

3 March 2017: Nuno gave a talk and was a panelist at the X Encontro Nacional dos Estudantes de Engenharia Biomédica (Coimbra, Portugal).

19 January 2017: Nuno gave a seminar at the International Institute of Molecular and Cell Biology in Warsaw (Poland), being also a panelist at the Career Path Day.

18-25 October 2016: Teresa, Mariana, Carolina and Nuno have completed their Masters in Bioinformatics and Computational Biology, Biomedical Engineering, Biological Engineering and Informatics, respectively, by brilliantly defending their theses.

18 October 2016: version 1.0.0 of Nuno Agostinho's package psichomics has been included in the latest release of Bioconductor.

16 October 2016: Mariana is the winner of the AstraZeneca Innovate Competition - Translational Research, after an oral presentation at the iMed Conference. The jury members were Maria Leptin (EMBO Director), Branca Cavaco, José António Belo (jury president) and Megan Carey.

30 September 2016: Carolina presented a poster at the 1st Symposium on Aging Research @CNC in Coimbra.

28 September 2016: Nuno gave a talk at the 4th Post-EURASNET Meeting in Poznan, Poland.

7 September 2016: Nuno gave a talk at the 2016 Summer School in Computational Biology, in Coimbra.

1 September 2016: Nuno was a speaker at the EMBO Young Scientists' Forum 2016, with Lina, Marie and Nuno A. presenting posters.

6-12 August 2016: Marie presented her work at the Gordon Conference and Research Seminar on Neurobiology of Brain Disorders in Girona, Spain.

12-15 July 2016: Nuno attended the EMBO Laboratory Management Course in Leimen, Germany.

26-28 June 2016: Nuno participated in the EMBO YIP Cancer Meeting in Heraklion, Greece.

13 May 2016: Nuno participated in the EMBO Young Investigator Meeting in EMBL Heidelberg, Germany.

6 May 2016: Nuno participated on a debate on "Creativity and Science", part of the RedeValor Conference at the University of Lisbon Rectory.

17 Apr 2016: Nuno shared his experience at the 1st NEBFCUL's BioSAM - Biological Sciences Annual Meeting.

1 Apr 2015: Marie won (again!) the prize for the best poster at the X IMM/CAML PhD meeting.

30-31 Mar 2016: Nuno lectured in the course on NGS Data Analysis, RNAseq, ChIPseq, part of the Gulbenkian Training Programme in Bioinformatics.

3 Mar 2016: Nuno visited UBI in Covilhã to share his experience at the IV Jornadas de Bioengenharia, organized by NEBE - Nucleo de Estudantes de Bioengenharia da UBI.

2 Mar 2016: Nuno shared his experience at the II Bioengineering Week at Instituto Superior Técnico.

Feb 2016: Lina successfully completed her Master in Scientific, Medical and Environmental Communication by Universitat Pompeu Fabra.

22-26 Feb 2016: Nuno coordinated and lectured in the Bioinformatics course for the PGCD, Graduate Program Science for Development in Praia, Cape Verde.

28 Dec 2015: Nuno participated in the 4º Fórum Anual de Graduados Portugueses no Estrangeiro (GraPE 2015) - "RE:Inventar Portugal", in Guimarães, having been a last-minute replacement for Elvira Fortunato in the closing debate.

4 Dec 2015: Marta's clinical work on Mitchell-Riley Syndrome was published in Case Reports in Genetics.

2 Dec 2015: Nuno gave a talk at the event "Conversas: Oncobiologia", organized by Núcleo de Biologia Celular e Molecular at FCT NOVA.

27 Nov 2015: Lina is one of this year's Colombian Heroes and gave an inspirational talk at the Héroes, in Bogotá.

More videos from Lina here, here, here and here.

16 Nov 2015: Bárbara has completed her Masters in Biomedical Engineering by brilliantly defending her thesis.

10 Nov 2015: Marie visited Caneças Secondary School to present the iMM-Laço Fund and teach the students about cancer.

5 Nov 2015: Marta was one of the organizers of the BRCA Network - European Congress 2015.

4 Nov 2015: Nuno Agostinho received the Maxdata Award Excelence in Informatics, having been the top first-year student of the FCUL MSc in Informatics.

15 May 2015: Marta went (again!) on national TV to explain genetic diseases to the public. You can watch it here.

13-15 May 2015: Nuno participated in the EMBO Young Investigator Meeting in Barcelona, Spain.

27 Mar 2015: Marie won the prize for the best presentation by a 1st year student at the IX IMM/CAML PhD meeting.

11 Feb 2015: Marta went on national TV to explain cancer predisposition to the public. You can watch it here.

Dec 2014: Ana Rita and Nuno have been awarded FCT Investigator Starting Grants. Nuno has also been awarded an EMBO Installation Grant.

14 Nov 2014: Nuno participated, as Faculty member and speaker, in the 4th Global Cancer Genomics Consortium Symposium (GCGC) in Kyoto, Japan.