NIH R01 · 2025
CLARIN 1 RETINAL FUNCTION AND THERAPEUTIC IMPLICATIONS FOR USH3
Project Summary/Abstract Mutations in the Clarin1 (CLRN1) gene cause Usher syndrome type 3 (USH3), a devastating orphan disease leading to combined blindness and deafness in humans. Despite its very low levels of expression, the lack of CLRN1 results in progressive degeneration of rod and cone photoreceptors and cochlear hair cells. There is no treatment currently available to prevent vision loss. The lack of animal models that display a retinal phenotype has been a major barrier to understanding the USH3 retinal pathophysiology and developing therapies to prevent the progressive degeneration of the photoreceptor cells. In recent studies, we and others reported the surprising discovery that…
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