Genetics and multi-omics analyses supports both diagnostic and research activities. Core expertise includes next-generation sequencing approaches, transcriptomic and metabolomic profiling, and integrative data analysis. The Unit enables the identification of disease-causing variants, molecular signatures, and clinically relevant biomarkers, and applies advanced bioinformatic pipelines to translate large-scale datasets into biologically and clinically meaningful insights, contributing to precision medicine and translational research.
Stem Cell and Organoid Disease Modeling focuses on the development and application of patient-derived cellular models to investigate human metabolic and liver diseases. Using induced pluripotent stem cells (iPSCs) and advanced three-dimensional organoid systems, the Unit generates physiologically relevant models that recapitulate key aspects of tissue architecture and function. These platforms are used for disease modeling, functional validation of genetic variants, and investigation of pathogenic mechanisms. The Unit also supports translational research by enabling proof-of-concept studies and preclinical evaluation of innovative therapeutic strategies in a patient-specific context.
Cell and Molecular Patho-Biology research line is dedicated to the study of cellular and molecular mechanisms underlying metabolic and liver diseases. Research activities focus on signal transduction pathways, gene regulation, protein trafficking, and cellular stress responses, using state-of-the-art molecular and cell biology techniques. The Unit provides mechanistic and functional validation of findings generated by genetic, omics, and patient-derived model studies, linking molecular alterations to disease phenotypes. Through integrated experimental approaches, this Unit contributes to the identification of pathogenic mechanisms and novel therapeutic targets.
Clinical Trials and Biomarker Analysis supports clinical and translational research by providing laboratory activities related to clinical trials and observational studies. It performs biomarker analyses and sample processing using standardized and quality-controlled procedures. The Unit collaborates closely with clinicians, academic investigators, and external partners to ensure reliable and reproducible laboratory measurements for trial endpoints and exploratory studies, thereby facilitating the translation of research discoveries into clinically relevant applications.