Our group aims to apply the knowledge gained from basic research to clinical practice and improve the diagnosis, prevention, and treatment of inherited metabolic diseases (IMD). These diseases are prevalent, affecting 1 in every 800 newborns and belong to the largest groups of rare diseases. High-throughput genomic sequencing has helped us discover new gene-pathology associations in IEM. However, we propose a new approach to overcome the limitations of current technologies in identifying specific genetic causes of the disease. Our plan involves using third-generation sequencing, metabolomics, transcriptomics, and epigenomics to detect long repetitive elements, copy number alterations, structural variations, and epigenetic defects in DNA or RNA. We will also use a functional genomics platform to understand the clinical impact of genetic defects.

Our second objective is to research advanced therapeutic strategies using biocompatible nanoparticles loaded with small chemical compounds, repositioning drugs, RNA therapy, or therapeutic proteins. We are developing preclinical liver and brain organoid platforms obtained through human iPSC differentiation to evaluate potential drugs. We will edit, activate, or inhibit genes using CRISPR to generate models and to explore this techology as potential therapy.

Finally, we aim to identify new therapeutic targets and biomarkers by integrating multi-omics data into computational models.