Dr Vanessa Sancho Shimizu
Spanning gene and protein expression, cell-based assays, and patient-derived organoid modelling, this theme brings together cross-disciplinary expertise to validate genetic variants. This theme supports the development, optimization, and dissemination of molecular and patient-based assays to interrogate gene function in health and disease. Drawing on 51³Ô¹ÏÍø’s cross-disciplinary strengths in molecular biology, genomics, and translational medicine, our goal is to enable high-quality, reproducible functional readouts across diverse biological systems.
- Molecular functional screens
- Patient-derived cellular models including primary cells and iPSCs
- Organoid systems for disease modelling and functional validation
By connecting foundational biology with patient-specific models, we aim to accelerate the translation of genomic insights into mechanistic understanding and clinical application. This theme also fosters resource sharing and standardization to benefit the wider 51³Ô¹ÏÍø genomics community. By uniting research strengths and shared infrastructure across 51³Ô¹ÏÍø, it fills a critical gap offering a collaborative platform for functional validation and advancing translational genomics.