MetGenPro Group research lies at the interface of cell metabolism and gene expression. We focus on molecular genetics and alterations in metabolic pathways or enzyme structure/function in response to drugs, gene variants and disease states. Our studies range from basic biomedical research to translational areas addressing personalized medicine for better diagnosis, prognosis and therapies.

Molecular Genetics of Rare Diseases

We perform genotyping and mutation characterization as fundamental tools to confirm biochemical/enzymatic diagnosis of rare diseases, to infer disease severity and to design alternative/novel therapeutic approaches. We have been applying genotype-phenotype correlations to better tailor conventional and novel therapies (Metabolic Diseases&Health Care Sector).

Protein misfolding in Inherited Metabolic Disorders (IMD)

We apply molecular biology, biochemical and biophysical technologies to produce and characterize misfolded proteins. We investigate the modulation of enzyme structure/function by small molecules aiming the development of new therapies (Metabolic Diseases&Emerging Technologies).

The mitochondrial interactome for the understanding of disease

We address protein-metabolome interactions using mass spectrometry-based targeted metabolomics to understand mechanisms of disease, potential biomarkers, drug targets and drug candidates. Modulation of signaling metabolites and their role in intracellular communication are within the scope of our interests aiming to mitigate drug-induced unwanted effects in the pathogenesis of disease in the liver/brain axis (Metabolic Diseases&Oncology).

Promoting Patients Awareness and Quality of Life

Within IMD we are committed to reach patients, families and general public, by interacting with patients’ associations and with the Portuguese Society for Metabolic Disorders (SPDM). By providing adequate information and promoting dissemination of scientific data we intend to stimulate a patient-oriented and knowledge-driven environment, triggering a more informed and inclusive society (Metabolic Diseases&Professional and Patient Associations).