Nuno has a long-term interest in the systems-level transcriptional mechanisms underlying mammalian cell specification, often perturbed in cancer. He is particularly interested in unveiling the features shared by the transcription and splicing regulatory circuitries, thereby shedding some light on the mechanisms responsible for the association between aberrant splicing and cancer.
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 Nuno to use NGS to find disease-specific transcriptomic signatures beyond gene expression.
Nuno also remains interested in employing evolutionary approaches to understand the mechanisms of tissue-specific transcriptional regulation, potentially altered in a disease context.