ADVANCE-CFTR: Advanced Diagnostic Validation and Novel Clinical Evaluation across the CFTR spectrum

Diagnosing cystic fibrosis (CF) can be challenging, especially with rare CF genes. Without a clear diagnosis, patients often don’t receive the correct treatment, leading to health deterioration. Some wait for years, even decades, causing significant distress. Accurate testing methods are urgently needed. Recently, CFTR-dependent tests in patient-derived intestinal organoids, pioneered at Beekman lab (UMC Utrecht), have shown excellent diagnostic capabilities and provide key phenotyping information. These organoids can also quantify individual responses to CFTR modulators and be biobanked for future research. Optimal use of these biomarkers for difficult-to-diagnose cases and modulator treatment requires further investigation.

Our research project aims to:

1.     Perform comprehensive clinical phenotyping and build a disease-specific database.

2.     Improve diagnostic performance by evaluating the accuracy of organoids compared to SCC, NPD, and ICM.

3.     Assess intestinal organoid responses to CFTR modulators.

Develop the UK’s first CF organoid facility for advanced CFTR diagnostics and drug responsiveness testing.

The candidate will learn to independently conduct research on primary intestinal organoids and develop assays tailored for difficult-to-diagnose individuals. This includes exploratory work to improve assay standardization, complex organoid feature extraction, and integration based on novel image analysis techniques for optimal in vitro measurements and clinical comparisons. To do this the student will be expected to spend some time training in The UMC Utrecht Netherlands (Beekman lab). Additionally, the student will be trained in associated support structures such as patient needs, informed consent, biobanking, ethical considerations, regulatory approval processes, statistics, and databases.

Further details and to apply please visit the studentship webpage.