EE Launches Organoid Screening of Cystic Fibrosis Nonsense Mutation

Emily’s Entourage is proud to announce that it has awarded a one-year research grant to Jeffrey Beekman, PhD, at the University Medical Center, Utrecht, Netherlands.

Image courtesy of Jeffrey Beekman, PhD.

This grant reflects a new frontier of personalized medicine. Organoids—or mini organs—are derived from a CF patient’s own intestinal stem cells and have been shown to predict whether certain therapies work for particular mutations.  

A pioneer of the application of organoids to CF therapeutics, Dr. Beekman will use organoids to assess if current and investigational small molecule CFTR modulators are effective for the W1282X mutation.

This project is particularly time sensitive because there are game-changing breakthroughs in market or late-stage development for roughly 90% of the CF population. Individuals with two copies of nonsense mutations, including W1282X, belong to the outlying 10% of the CF population for whom there are no mutation-targeted treatments in development. Drug screening programs like this one assess whether drugs that have already been or are currently being developed for other CF mutations may also provide benefit for nonsense mutations—potentially identifying near-term therapeutic solutions for the remaining 10%.

Part of Emily’s Entourage’s “Catalyst for the Cure” research campaign, this project supports the foundation’s strategic approach of partnering with world-renowned scientists to accelerate the development of life-saving treatments for nonsense mutations of CF.

Emily’s Entourage provides support for research and drug development through a variety of different funding mechanisms, including an annual grant program. Thanks to support from incredible donors, the foundation has awarded over $2.7 million dollars to research on nonsense mutations of CF since 2011. To learn more, visit the Awarded Grants page. 

Strategy: Browsing the Library: Identifying and Repurposing Therapeutic Molecules