Gene therapy focuses on genetic modification to produce therapeutic effects or treat
diseases by repairing or reconstructing genetic material, thus being expected to be the most …

Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

Inherited retinal diseases (IRDs) are a heterogenous group of orphan eye diseases that
typically result from monogenic mutations and are considered attractive targets for gene …

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
diseases that cause vision loss due to abnormal development or due to the dysfunction or …

The primary cilium is a highly specialized and evolutionary conserved organelle in
eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few …

Retinitis pigmentosa, defined more properly as cone–rod dystrophy, is a paradigm of
inherited diffuse retinal dystrophies, one of the rare diseases with the highest prevalence in …

Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

Abstract VLGR1/ADGRV1 (very large G protein‐coupled receptor‐1) is the largest adhesion
G protein‐coupled receptor (aGPCR). Mutations in VLGR1/ADGRV1 are associated with …

Usher syndrome (USH) is the most common form of monogenic deaf‐blindness. Loss of
vision is untreatable and there are no suitable animal models for testing therapeutic …