RNA (de)regulation in disease contexts
The advent of next-generation sequencing (NGS)
impacted our ability to characterize genomes, epigenomes and
transcriptomes. In particular, RNA-Seq allows the
investigation of disease transcriptomes to be expanded from
measuring the expression of protein-coding genes to the
analysis of alternative splicing, non-coding RNAs, etc. The
evidence for the involvement of splicing regulation in
cellular programs altered in oncogenesis, for example,
motivates the NMorais
Lab to use NGS to find disease-specific transcriptomic
signatures beyond gene expression.
The Lab's experience in the analysis of different types of high-throughput transcriptomic data and in the definition of molecular signature scomplements that of oncologists, immunologists and molecular biologists at the iMM, enabling the experimental validation and the functional and clinical exploration of promising targets. Moreover, the IMM benefits from a specimen-rich biobank and the prospective collection of clinically annotated samples.
These are some of the projects being developed in the Lab:
- Transcriptomic profiling of colorectal cancer: novel biomarkers for early metastatic disease
- Brain metastases’ transcriptomes: organ tropism and the search for therapeutic targets
- Alternative splicing as a therapeutic target in Parkinson’s disease
We are also developing bioinformatic tools for the analysis of
alternative splicing from large RNA-Seq datasets. We are dealing with
issues such as isoform annotation, statistics of
differential splicing, data variance or the integration with
clinical information. These tools are assisting in
elucidating mechanisms of alternative splicing regulation
(and deregulation in disease contexts).
We have just released psichomics, an interactive R package for the analysis of alternative splicing.
Anna Sablina (VIB, Belgium)
Jesus Gil (Imperial College London, UK)
Mónica Bettencourt Dias (IGC, Portugal)
Susana Vinga (CSI-IDMEC-IST, Portugal) & Alexandra Carvalho (IT-IST, Portugal)
Cláudia Faria (Hospital de Santa Maria / JBarata Lab, Instituto de Medicina Molecular, Portugal)
Gonçalo Bernardes (Instituto de Medicina Molecular, Portugal)
Luis Costa (Instituto de Medicina Molecular, Portugal)
Luisa Figueiredo (Instituto de Medicina Molecular, Portugal)