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[This article belongs to Volume - 70, Issue - 2]
Published on : 2025-02-14 13:58:03
Article Code: AMJ-14-02-2025-12310
Title : Organ-on-Chip Modeling of Rare Ciliopathies: Joubert Syndrome Patient-Derived Kidney Tubuloids for Personalized Drug Screening
Author(s) : Dr. Nora Andersen, Dr. Carlos Mendez
Abstract :
Joubert syndrome (JS) renal manifestations lack disease-specific treatments and models. We generated kidney
tubuloids from JS patient urine-derived induced pluripotent stem cells and integrated them into a microfluidic organ
on-chip system recapitulating tubular flow and mechanical strain. These tubuloids displayed defective ciliogenesis,
abnormal planar cell polarity, and perturbed calcium signaling characteristic of JS. High-content screening of 1,200
FDA-approved compounds identified roscovitine, a cyclin-dependent kinase inhibitor, as a potent rescuer of ciliary
length and function. This patient-specific, physiologically relevant platform accelerates drug repurposing for rare
ciliopathies and reduces reliance on animal models.