USS Translational Research Grants

2024 Usher Syndrome Society Translational Research Grants

These USS Translational Research Grants are intended to support translational research on Usher syndrome in either Preclinical Research and/or Mechanism-based Therapeutic Development. The research projects include well-documented research collaborations across sensory modalities and across scientific disciplines. All approaches are collaborative in nature, designed to target cells in the eye and the ear and, if found to be effective during these two-year projects, may be further developed into treatments to benefit Usher syndrome patients.

The Usher Syndrome Society Translational Research Grant program is currently in its third year. The last two years of the program were met with enthusiasm from scientists, clinicians, patients, and families. The previous USS-sponsored investigators have made good progress and we are excited about the next round of projects that have been funded.

We would like to thank our Scientific Advisory Committee for helping us evaluate all the submitted projects. 

About the Scientific Advisory Board (SAB)
For Bio details click on each photo


Grant #1 & Grant #2: Piloting Preclinical Development of Patient-Customized ASO Therapies for USH

Grant #1: USH 2A  and Grant #2: USH 1B

These projects are headed up by the collaborative team of Drs. Tim Yu and Gwen Geleoc at Boston Children’s Hospital and Harvard Medical School and Dr. Monte Westerfield at University of Oregon.  They are developing novel antisense oligonucleotides (ASOs for short) that target mutations in exons 6,19, 20 and a mutation that leads to a pseudo-exon formation between exon 40 and 41 of the USH2A gene. They are using the same approach to also target a founder mutation in USH1B. The ASO strategy uses short stretches of RNA designed to selectively block USH mutations and allow for generation of healthy USH proteins.  In this case, Drs. Yu and Geleoc plan to test the approach in cell lines, in Zebrafish, and in inner ear and retinal organoids derived from Human stem cells. If successful, this ASO approach may alleviate some of the consequences of these USH2A and USH1B mutations.

Grant #3: Westerfield Drug Screening

The project, led by Dr. Monte Westerfield, is focused on the evaluation of experimental drugs and drugs already approved by the FDA for their ability to alleviate the symptoms of Usher syndrome.  The work is being done in zebrafish that carry genetic mutations in Usher syndrome genes.  The zebrafish is a good animal model for this work because the fish grow quickly and are inexpensive, which means Dr. Westerfield and his team can screen a lot of different drugs in many different zebrafish models of USH which will include USH1F, USH1B, USH1C, USH1D, USH1G, USH2A, USH2C, and USH3A. In addition, at the cellular and genetic level, the inner ears and retinas of zebrafish are quite similar to those of humans.  Thus, discoveries in zebrafish may be more easily translated for use in humans.


Previous Grants Funded


Grant 2022 & 2023: Rescuing The Common Deep Intronic USH2A Variant c.7595- 2144A>G by innovative EDCas9 Genome Editing

This project that the Usher Syndrome Society funded is being done in cell lines that carry an intronic mutation in the USH2A gene. This project, led by Suzanne Kohl in Germany, is examining a part of the USH2a gene that does not code for protein but is important for how the protein is assembled.  The mutation leads to the formation of truncated non-functional USH2A protein. Dr. Kohl’s team is developing a new CRISPR method for genome editing of the USH2A mutation. The goal is to disrupt the mutation, allowing for the formation of a healthy, fully-functional form of the USH2A protein.