USH1D Research
Gene: CDH23
Year Identified: 2001
Each research project listed below will include a graphic of the research continuum. The gold box indicates where this project falls on the continuum, illustrating its progress towards reaching people living with Usher syndrome, from "Bench to Bedside."
Click here to learn more about the different stages in the research continuum.
Gene Therapy USH1D
Triple AAV Vectors for USH1D:
A research team in Naples, Italy has tested retinal gene transfer in mouse and pig retinas by using triple AAV vectors to maximize the transfer capacity for larger genes involved in Inherited Retinal Diseases such as USH1D. Translation was sufficient; therefore, triple AAV vectors could enable gene therapy for USH1D.
Link to Relevant Publication
USH1D-Related Science News
This 2010 review dives into the genetics of pathological mechanisms of Usher syndrome.
What this means for Usher syndrome: Research has come a long way since 2010!
Researchers in the Netherlands studied families with mutations in the CDH23 gene by testing their vision, hearing, and vestibular function to characterize the key differences between Usher syndrome type 1D (USH1D) and DFNB12, a nonsyndromic hearing loss disorder also due to mutations in the CDH23 gene.
