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 BioData.pt (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.
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.