Integrative genomic approaches to understand human cell fate reprogramming in development and genetic diseases
Our mission
We are a computational and functional genomics laboratory focused on understanding how gene regulation determines cellular identity and how its disruption causes genetic diseases. By combining innovative experimental techniques with advanced computational models, we greatly improve our ability to precisely map regulatory regions and DNA sequence variants. These variants contribute to individual phenotypic differences and disease risk.
Key Research Areas
Interpreting Genetic Variation (VUS)
Moving beyond descriptive catalogs, we emphasize the functional and diagnostic analysis of Variants of Unknown Significance (VUS). Our aim is to provide direct insights for patient care through:
- Large-scale targeted sequencing of real-world cohorts.
- Diagnostic RNA sequencing to identify splicing issues.
- High-throughput saturation mutagenesis for systematic evaluation of variant impacts in key genomic areas.
Computational Genomics and Multi-Omics
Our dedicated computational team specializes in the integrative analysis of large-scale datasets to understand chromatin accessibility and transcription factor dynamics. We utilize:
- Single-cell technologies: scRNA-seq, scATAC-seq, and multiomics approaches.
- Advanced modeling: Machine learning, regulatory network inference, and combined epigenomic-transcriptomic methods.
Cell Fate decision and reprogramming
We analyze how Transcription Factors (TFs) coordinate cell fate decisions.
- Master Regulators: We examine how TFs define and sustain cell identity.
- Perturbation Assays: We employ combinatorial TF perturbation and spatial transcriptomics to decipher regulatory logic.
- Translational Goal: Our aim is to overcome challenges in cellular reprogramming to create safe and effective clinical therapies.
Our Impact
From deciphering Mendelian disorders to advancing regenerative medicine, our scientific program is designed to translate fundamental genomic insights into robust clinical solutions. We are redefining how transcriptional misregulation is understood in pathology.
Quote
My research utilizes integrative genomic methods to explore the mechanisms that control stem cell biology and cell fate decisions. With a solid background in high-throughput sequencing, I led a large-scale NGS project on COVID-19, successfully identifying thousands of SARS-CoV-2 genomic variants and analyzing host transcriptomic profiles.
Additional Funding
- FCDP - FONDAZIONE CASSA DEPOSITI E PRESTITI - "AVANTI Fondazione Telethon" (2025-2027)
- GenOMICA: A cost-effective multi-OMICs strategy for the diagnosis of rare Mendelian disorders by integrating data from exome, whole-transcriptome and low-pass genome sequencing in Medical Genetics outpatient clinics, Ricerca Finalizzata
- EUCARDIS: Empowering mUltidimensional diagnostics and molecular prognostication of primary CARDIomyopathies and heart rhythm disorderS (2023-Present), PNRR
- CDKL5: A functional genomics approach to dissect the molecular bases of CDKL5 Deficiency Disorder (2022-Present), LouLou Foundation
- GENOMED: Genomed Medicina di Precisione: applicazioni della Genomica alla salute umana (2022-Present), Ministero della Salute
- Decoding and leveraging the molecular determinants of myogenic fate through integrative genomics and cell engineering (2022-Present), PRIN
