Full professor cellular disease models, group leader UMC Utrecht, Utrecht, Netherlands
Patient-derived cells can be used for disease modeling to study preclinical and clinical interventions and variation thereof in the human population. Here, we explore the ability of a 3D intestinal organoid model to study individual disease and treatment of cystic fibrosis, a monogenic, recessive disease caused by CFTR mutations. The 3D organoid structure enables rapid measurement of CFTR function in vitro, and provides a drug testing platform that links the preclinical and clinical domains of drug development. We demonstrate the standardization of the CFTR organoid assay across laboratories, the collection of >500 organoid samples from >40 different clinical sites across Europe and the screening of potential drug responders in these >500 samples to enable clinical trial design. Together, it shows how living cell technologies can be engineered for improvement of drug development pipelines in rare genetic diseases.