USH2020: Emerging Cross-Cutting Therapies for Usher Syndrome

July 7, 2020

Ben Shaberman

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Presentation Summary:

Emerging therapies for vision loss caused by Usher syndrome are now in, or moving toward, clinical trials. Many of these promising treatments target specific genes and mutations (e.g., MYO7A, USH2A-Exon 13). However, the genetic diversity of Usher syndrome is broad with 12 genes known to cause the condition when mutated. Many Usher genes and mutations remain unaddressed by therapy developers and a gene-specific treatment may not be appropriate for some people, especially those with the most advanced disease or whose gene hasn’t been identified.

Several researchers and companies are also developing cross-cutting treatments designed to save or restore vision independent of the underlying gene mutation causing the condition. These include stem-cell-based treatments from ReNeuron and jCyte, which are now in human studies. SparingVision is working to move a gene-independent, cone-preserving gene therapy into a clinical trial in 2021. Nacuity is developing a strong antioxidant to slow vision loss – a clinical trial for that molecule is planned for 2021. Three clinical trials for optogenetic treatments are now in human studies. Optogenetics holds promise for restoring vision in people who are completely blind, regardless of the gene associated with their disease.

Ben Shaberman will review these and other cross-cutting (gene independent) alternatives currently in development.

Speaker Bio:

Ben Shaberman, Senior Director, Scientific Outreach & Community Engagement for the Foundation Fighting Blindness

For more than 15 years, Ben has been reporting on retinal research for all of FFB’s electronic and print publications. In addition, he presents the latest scientific advancements at local and national events for patients and families, and conducts various training activities for staff and constituents. Ben also leads the Foundation’s outreach to eye care professionals, and works with patients one-on-one to help them understand their retinal disease and the research underway that may benefit them. 

Ben has written three books, all published by Loyola University Maryland. His latest, Retina Boy, is a sci-fi adventure about a boy born without retinas. 

Ben’s freelance essays and commentaries have been carried by The Washington Post, Chicago Tribune, Baltimore Sun, National Public Radio, and a variety of other newspapers and magazines. 

Ben earned a master of arts in writing from Johns Hopkins University, a master of science in systems management from the University of Maryland, and a bachelor of science in computer information science from Cleveland State University.

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