GER – Gene Expression and Regulation

Margarida Gama-Carvalho

The main goal of the Gene Expression and Regulation Group is to explore the regulation of eukaryotic gene expression programs at the transcriptional and post-transcriptional levels and their connection to signaling pathways, using a combination of cell and molecular biology studies with transcriptomics and bioinformatic approaches.

The group aims to tackle scientific problems that are relevant for human health and disease therapy and to explore applications to the development of targeted therapeutic strategies bridging Gene Expression Mechanisms to Systems Function and Therapy Development. The group is composed of four research teams located at the academic campus of FCUL (RNA Biology and Bioinformatics lab, lead by the group coordinator), the INSA campus (‘Signaling pathways in gene expression lab’ and the ‘mRNA Metabolism lab’), and at the University of Trás-os-Montes (‘Genome organization lab’). Each team explores independent but interconnected scientific aims within the overall objectives, contributing towards the development of a coherent research program in the area of eukaryotic control of gene expression.

A significant part of the group’s research involves the application and development of bioinformatic tools for RNA-seq data analysis, supported by a server infrastructure with capacity for analysis of eukaryotic transcriptomes.

Specific research interests include: 1) basic mechanism of gene expression and RNA-based therapy developments; 2) characterization of gene expression pathways underlying rare genetic disorders; 3) role of RNA pathways in neuronal function and neurodegeneration; 4) signaling pathways in cell function and cancer and their connection to splicing; 5) translational control and mRNA surveillance in cell function and cancer; 6) role of repetitive DNA sequences in genome organization and function.

Due to the focus on fundamental pathways for cell function and regulation and the extended use of transcriptomics and bioinformatic approaches, the GE&R group is in a pivotal position within BioISI contributing towards all thematic strands (TS) and being particularly involved in the Biomedicine and Bioinformatics and Modeling TS.

Team

Group Leader: Margarida Gama-Carvalho mhcarvalho@fc.ul.pt

Recent Publications

BioISI Digest | Grapevine-Associated Lipid Signalling Is Specifically Activated in an Rpv3 Background in Response to an Aggressive P. viticola Pathovar

A recent paper, first-authored by Gonçalo Laureano and headed by Andreia Figueiredo, presents a study using a Plasmopara viticola strain capable of supress the defence mechanisms conferred by a specific defence gene, the Rpv3, in grapevine. Read the BioISI Digest below to know more.

Bio[r]SciDE – Science Days and Ephemeris | International Women’s Day

On this International Women's Day, we are challenged to embrace equity. Ciência Viva recognizes several Portuguese women devoted to Science in a new edition of the book “Women in Science”, which includes the portrait of 101 female researchers in different scientific fields. Get to know below the testimonials of three BioISI female researchers who have been recognized in this book.

Carlos Farinha has been awarded by Emily’s Entourage to develop a novel approach to potentially treat Nonsense Mutations of Cystic Fibrosis

Carlos Farinha has been awarded 220 thousand USD by Emily’s Entourage to support research on restoring CFTR protein function in people with Cystic Fibrosis bearing nonsense mutations.

BioISI Digest | Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction

A new paper, first-authored by Sónia Zacarias, coordinated by Carlos M. Farinha, with the collaboration of Bruno L. Victor, reveals the mode of action of different drugs on the deffective protein that causes Cystic Fibrosis, giving valuable insights to develop new therapies for individuals bearing rare variants . Know more on this BioISI Digest.

Bio[r]SciDE – Science Days and Ephemeris | Rare Disease Day

On this day Rare Disease Day, we want to tell you one chapter of the rare diseases ‘research story. BioISI scientists are the main characters, their research is the argument and the message they want to convey is that Science contributes to equitable access to diagnosis, treatment, health and social care and opportunities for people suffering from a rare disease.

BioISI Digest | Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells

A new paper, first-authored by Lúcia Santos and coordinated by Carlos M. Farinha, analyzes five different mutations in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and the associated mechanisms that causes disease. Know more in this BioISI Digest.