Omics and Related Technologies
RESEARCH AREA
research line
Functional Genomics
The functional genomics research line aims to unravel gene function and regulatory mechanisms in health and disease employing innovative technologies to understand and study genetic and mutifactorial disorders . This research line spans from the development of high-throughput CRISPR-based screening platforms that identify novel targets for gene therapy and drug discovery, to the investigation of post-translational gene regulation and precise modulation of gene expression for therapeutic insights. In parallel, this research line uses synthetic molecules such as lncRNA SINEUPs to restore protein levels in genetic diseases, thereby paving the way for innovative personalized medicine and new therapeutic approaches.
Research Activities
Development of high-throughput CRISPR screening platforms, integrating machine learning-guided library design with large-scale genetic perturbation experiments in different biological contexts
Characterization of the functional landscape of single nucleotide variants (SNV) in disease models by using large-scale CRISPR screens and quantifying variant effects via phenotypic and transcriptional readouts
Identification of post-translational and gene-read mechanisms in disease and therapeutic applications.
Regulation of gene expression by transient or constitutive modulation of genes to provide insights into gene function and therapeutic potential in disease models
Post-transcriptional regulation of protein translation by synthetic lncRNA SINEUPs to restore protein levels in haploinsufficient-loss of function genetic diseases
