FunGP – Functional Genomics and Proteostasis

Margarida Amaral

The main goal of the Functional Genomics and Proteostasis Group is to understand human diseases and achieve drug discovery using functional genomics and systems approaches along with molecular and cell biology approaches.

FunGP is organized into five research labs, each headed by a PI. Each team explores independent scientific aims but with common interests and contributing to 3 out of the 4 major thematic lines of BioISI. Three of the groups have an international reputation in the frontline research of the competitive field of the monogenic disease Cystic Fibrosis, while the remaining two are leaders in signal transduction in cancer and pharmaco-resistance in malaria. The group also includes two Visiting Professors with double-affiliation to non-Portuguese institutions.

The major research topics of the FunGP group are focused on molecular and systems biology of Cystic Fibrosis (CF), cancer and malaria; studies of membrane proteins associated with human diseases; pharmacogenomics and drug development; biomarker identification; biodevices for point-of care medicine, diagnosis and prognosis.

Specific lines of interest include: 1) novel cellular epithelial models for CF studies; 2) molecular and cellular mechanisms of quality control of the endoplasmic reticulum and secretory traffic of the CFTR protein; 3) characterization of signal transduction pathways influencing oncogenic reprogramming of epithelial cells; 4) influence of host-pathogen genomes on the efficacy of drugs with a strong interest in drug transporter proteins; 5) identification of drug targets and drug screens target screens in cancer and chronic diseases

FunGP members are mainly associated with BioISI’s thematic line of Biomedicine but cooperative projects are being developed for integrative research within the thematic lines of Biophysics (for biodevice development) and Bioinformatics.

Team

Group Leader: Margarida Amaral msamaral@fc.ul.pt

PI’s: Carlos Farinha | Paulo Matos | Cláudio Gomes | Luka Clarke | José Pedro Gil

Technicians: Sofia Correia | Luís Marques

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.