Profile photo Sacha Spelier

Sacha Spelier

Assistant Professor

Strategic program(s):

Biography

Sacha Spelier is an Assistant Professor at UMC Utrecht and leads the cystic fibrosis patient-derived intestinal organoid (CF-PDIO) research line. She obtained her MSc in Cancer, Stem Cells & Developmental Biology at Utrecht University and completed her PhD on nonsense mutation therapeutics and functional disease modelling in cystic fibrosis. Her research focuses on understanding and overcoming nonsense mutations using patient-derived organoid models and quantitative functional assays. In parallel, she studies CF-associated complications, including ageing and colorectal cancer, to better understand the long-term consequences of CFTR dysfunction. Her work bridges fundamental biology, translational research and precision medicine, with the goal of developing better therapies for people with cystic fibrosis and other genetic diseases.

Recent publications

The Promising Role of Intestinal Organoids in the Diagnostic Work-Up of Cystic Fibrosis Screen Positive Inconclusive Diagnosis/CFTR-Related Metabolic Syndrome (CFSPID/CRMS) Noelia Rodriguez Mier, Marlies Destoop, Sacha Spelier, Anabela Santo Ramalho, Jeffrey M Beekman, François Vermeulen, Marijke Proesmans, Karin M de Winter-de Groot
International Journal of Neonatal Screening, 2025, vol. 11
ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis Wooree Ko, Joseph J Porter, Sacha Spelier, Emily G Sorensen, Priyanka Bhatt, Jeffrey T Gabell, Isabelle van der Windt, Tyler Couch, Kevin Coote, Martin Mense, Jeffrey M Beekman, John D Lueck
Nucleic acids research, 2025, vol. 53
CFTR and colorectal cancer susceptibility S Spelier, S Derksen, R Hofland, J M Beekman, B Yetkin-Arik
Trends in Cancer, 2024, vol. 10, p.876-879
Organoid-guided synergistic treatment of minimal function CFTR mutations with CFTR modulators, roflumilast and simvastatin Sacha Spelier, Karin de Winter-de Groot, Natascha Keijzer-Nieuwenhuijze, Yves Liem, Kors van der Ent, Jeffrey Beekman, Lieke S. Kamphuis
The European respiratory journal, 2023, vol. 63
FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes E. de Poel, S. Spelier, M. C. Hagemeijer, P. van Mourik, S. W.F. Suen, A. M. Vonk, J. E. Brunsveld, G. N. Ithakisiou, E. Kruisselbrink, H. Oppelaar, G. Berkers, K. M. de Winter de Groot, S. Heida-Michel, S. R. Jans, H. van Panhuis, M. Bakker, R. van der Meer, J. Roukema, E. Dompeling, E. J.M. Weersink, G. H. Koppelman, A. R. Blaazer, J. E. Muijlwijk-Koezen, C. K. van der Ent, J. M. Beekman
Journal of Cystic Fibrosis, 2023, vol. 22, p.548-559