Finding treatments and a cure is not a matter of if, but when

The Usher Syndrome Society is dedicated to finding treatments and a cure for all types of Usher syndrome. To date, we have donated over $2 Million to research efforts in labs around the world focused on advancing critical hearing and vision research related to Usher syndrome. 

Usher Syndrome Society (USS) Translational Research Grants

In 2022, The Usher Syndrome Society established our Scientific Advisory Committee and founded the USS Translational Research Grants. These grants are awarded to well-documented research projects targeting cells in the eye and ear with the aim of developing treatments that will benefit Usher syndrome patients. The USS Translational Research Grant program is currently in its third year and the last two years of the program were met with enthusiasm from scientists, clinicians, patients, and families. All three of the USS-sponsored investigators have made good progress and we are excited about the next round of projects that have been funded.

An image of two scientists talking to each other in a lab wearing white lab coats.

2024 Grant Recipients

Dr. Gwen Géléoc (Click to view Bio)

Dr. Tim Yu (Click to view Bio)

Project #1

Piloting Preclinical Development of Patient-Customized ASO Therapies for USH 2A

Project #2

Piloting Preclinical Development of Patient-Customized ASO Therapies for USH 1B

These projects are headed up by the collaborative team of Dr. Tim Yu and Dr. Gwen Géléoc 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.

Project #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.

Dr. Monte Westerfield (Click to view Bio)

Previous Grant Recipients

Dr. Suzanne Kohl and Pietro De Angeli M.Sc  (Click to view Bio)

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.

additional Research we support

Research is happening all over the world for Usher syndrome. Although funding for a rare disease is difficult, we will continue to support as many scientists as we can until we find a cure. We are always looking for additional opportunities to collaborate with research teams and fund novel research projects. If you would like your work or the work of a known research team considered for funding by the Usher Syndrome Society, please contact us.

Dr. Eric Pierce  (Click to view Bio)

Massachusetts Eye and Ear

The Usher Syndrome Society supports the Ocular Genomics Institute at Mass Eye and Ear directed by Dr. Eric Pierce. Dr. Qin Liu, an investigator at the Institute, has a research team that is focused on developing genome editing technologies for the treatment of retinal degeneration due to mutations in a number of genes, including USH2A. Results from these studies continue to be promising.

Holt/Géléoc Lab Boston Children’s Hospital

The Usher Syndrome Society has supported research in the Holt/Géléoc lab at Boston Children’s Hospital for many years. Noteworthy donations from the USH Society have funded an ABR machine and the development of a large animal model for USH2A to further characterize the pathophysiology of USH2A. This model generated excitement in the field and attracted the attention of industry partners. As a direct result of the seed funding provided by the Usher Syndrome Society, the Holt/Géléoc lab began a collaboration with an industry partner to develop novel therapeutics for Usher Syndrome. In addition, the Holt/Géléoc lab is actively developing therapeutics to target three other Usher Syndrome genes using a range of cutting-edge techniques.​

Stephanie Mauriac, Ph.D.

Dr. Ching Hwa Sung (Click to view Bio)

Weill Cornell Medicine

With the help of Usher Syndrome Society donations, Dr, Ching-Hwa Sung, and her team are actively pursuing the mechanistic actions by which the diseased Müller cells affect visual functions and retinal health in the novel USH 3A mouse models. The lab is also investigating whether Müller cells produce other Usher Syndrome proteins.  

University of Iowa Institute of Vision Research

Using generous support from the Usher Syndrome Society and other philanthropists, investigators of the Kimberling Usher Research Laboratory at the University of Iowa Institute for Vision Research (IVR) have:

    • Devised a culture system for human donor retina to allow novel viral vectors to be developed for gene therapy of large Usher genes.
    • Doubled the size of our gene therapy manufacturing facilities to allow multiple new treatments per year to be manufactured in a nonprofit setting.
    • Developed a modular robot-assisted stem cell reprogramming and differentiation facility to speed our development of patient-derived polymer supported photoreceptor grafts.
    • Continued Project Usher, a philanthropically supported program that allows individuals with Usher syndrome who cannot afford commercial genetic testing to obtain a state of the art genetic test.
    • Embarked upon a natural history study of all forms of Usher syndrome. We already have data in hand from more than 250 patients with disease-causing genotypes in one of these genes

Dr. Ian Han & Dr. Edwin Stone 

Help us find treatments and a cure.