Isabel Rivera is an Assistant Professor of Biochemistry and Molecular Genetics at the Faculty of Pharmacy, University of Lisboa and holds a PhD in Pharmacy-Biochemistry (1998) and Habilitation in Cellular and Molecular Biology (2017). Her PhD work focused on the molecular characterization and establishment of genotype-phenotype correlations in the Portuguese phenylketonuric (PKU) population. This work laid the ground to study the molecular bases and regulatory mechanisms underlying rare genetic disorders, and particularly Inherited Metabolic Diseases (IMD), but also metabolic diseases associated with susceptibility to common pathologies. She genotyped patients with several IMD, such as PKU, classic galactosemia, homocystinuria, pyruvate dehydrogenase complex (PDC) and medium-chain acyl-CoA dehydrogenase deficiencies. She expanded her studies to the normal population by analysing the genes involved in homocysteine and methionine metabolism, which have been associated with increasing risk to develop endothelial dysfunction and cardiovascular disease. The characterization of gene variations allowed Isabel Rivera to infer disease severity and to establish genotype-phenotype correlations which were used to better tailor conventional treatments (diet, pharmacological) and to design appropriate alternative therapies, mainly pharmacological chaperones and antisense oligonucleotides. Concerning the regulatory mechanisms underlying IMD, she studied the epigenetic mechanisms, namely DNA methylation and histone acetylation, involved in PDHA1 and PDHA2 transcription, genes encoding the rate-limiting subunit of PDC and displaying tissue specificity (somatic and spermatogenic cells, respectively). The elucidation of temporal and cellular testis-specific PDHA2 gene expression was and important achievement that will contribute to open new therapeutic approaches for the most common cause of PDC deficiency.