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Research

A treatment to cure childhood blindness in Usher 1B

We fund research with one goal: that children with Usher syndrome type 1B do not lose their sight, and that one day treatment can also reach hearing and balance. We choose every project with our Scientific Advisory Board and work together with the research teams.

3
therapeutic routes for the retina
8
funded or partner teams
6
countries
2023
our first research grant
Our strategy

The path to a treatment

For a retinal treatment to reach a child, four steps have to be taken, in this order. Every project we fund moves at least one of them forward.

1

Understand

What the MYO7A protein does, why sight is lost and how the disease progresses in each person, drawing on natural history studies.

2

Models

Animals (mouse, pig, primate) and patient cells, such as retinal organoids, in which to test therapies before they are tried in people.

3

Measure and reduce risk

Tests that show whether a treatment works: in the lab, a potency assay that confirms the protein produced is active; in the retina, biomarkers accepted by regulators. And several routes in parallel, so that if one fails we do not lose everything.

4

Treat

Therapies that slow or stop vision loss:

  • Add the gene: dual AAV vectors, mRNA trans-splicing
  • Correct the RNA: antisense oligonucleotides (ASOs)
  • Edit the gene: base editing, prime editing
Our principles

What guides every decision we make, whatever the step.

Children first

Retinitis pigmentosa progresses fastest in childhood. That is when a treatment can save the most sight, and it is where nobody is collecting data.

Tools for everyone

We fund tools and knowledge that make Usher 1B research easier for every team, not only ours: models, cell lines, potency assays, retinal measures and variant interpretation.

Measuring the retina

Without a validated measure of the retina, no trial in children can be designed. That is why we fund one: every therapy will need it.

Bets that fail differently

We fund retinal routes that do not depend on one another. If one fails, the others do not fall with it.

Hearing and balance too

Current trials treat only the retina, and only in adults. That is why we also support the route that could treat hearing and balance.

Timeline

Our research, year by year

2021–22

First primate model

Neuringer (Oregon): Gema, the first macaque with an edited MYO7A gene, with an eye that has a macula like ours.

Save Sight Now · FFB
2021–26

Institut de la Vision

Natural history in patients and the groundwork for gene therapies (Paris).

Save Sight Now · FFB
2022–25

Retinal organoids

Pennesi (Oregon): mini-retinas from patient cells to find the best time to treat.

Save Sight Now
2022

Patient cells and minigenes

Uwe Wolfrum and Kerstin Nagel-Wolfrum (Mainz): patient models and three therapeutic routes.

Stichting Ushersyndroom, with SSNEU
2022–26

The Usher 1B pig

Wolfrum and PIGMOD study a pig with a natural MYO7A mutation.

Stichting Ushersyndroom, with SSNEU
2023

A tagged cell line

SSNEU's first grant: Gamm (Wisconsin), a first step towards a potency assay.

SSNEU
2025

Measuring the retina

The biomarker programme starts with Quinze-Vingts and RetinAI.

SSNEU
2025–26

mRNA trans-splicing

Becirovic and PIGMOD: correct protein in the pig retina.

SSNEU
Jul 2026

Institut Pasteur

Dual AAV vector gene therapy begins.

SSNEU
Aug 2026

Anthropic award

MYO7A structure and variant interpretation.

Anthropic
Dec 2026

FLORetina

First biomarker results to be presented.

2029

A validated measure

Goal: a retinal measurement package ready for trials.

What we fund

Current projects

Each card says what we pay for, why it matters, where it stands and what we do not yet know.

Therapies

Routes to treat the retina, and also hearing and balance

Dual AAV vector gene therapy for USH1B

Under way

Development of gene therapy for Usher Syndrome Type 1B using dual AAV vector approach

Aziz El-Amraoui and Sandrine Vitry · Institut Pasteur, reConnect Institute (Paris)
Why
The MYO7A gene is too large for a single vector, so this route delivers it in two. It could treat the retina and also hearing and balance. Balance has already been restored in two mouse models.
Where we are
Started in July 2026, with proof of concept in the eye under way. Patent filed.
What we don't know
Whether hearing can be restored, and how the retina responds.
TreatModels

mRNA trans-splicing to rebuild MYO7A

Year 1 complete
Elvir Becirovic · University of Zurich, with PIGMOD (Czech Academy of Sciences)
Why
The gene is split into two halves that the cell joins at the RNA level. It fails for different reasons than the routes already in the clinic.
Where we are
Correct protein in the retinal pigment epithelium and photoreceptors of mice, pigs and human organoids (preprint, July 2026).
What we don't know
Whether it works well enough in a diseased animal. A clinical partner is needed to move forward.
Treat

Antisense oligonucleotides for MYO7A exon 31 skipping

Early stage

ASO-USH1B-01 programme

Pablo Villoslada and Melissa Calero · Hospital del Mar Research Institute (Barcelona)
Why
An ASO makes the cell skip the part of the gene that carries the error. Several pathogenic variants sit in exon 31: if the shortened protein works, all those people would have a route to treatment.
Where we are
First experiment (autumn 2026): testing over three months whether the protein without exon 31 still binds its partner.
What we don't know
Whether the shortened protein works. The first experiment is designed to answer exactly that.
TreatUnderstand

Tools for the whole field

What any therapy will need to reach a trial

Structural OCT biomarkers for USH1B in children and adults

Under way

Data-to-Biomarker Programme (USH1B) · 2025–2030

Quinze-Vingts Hospital (Paris) · RetinAI (Ikerian) · Bonn
Why
Without a measure accepted by regulators, no trial in children can be designed.
Where we are
A five-year programme. First results to be presented at FLORetina (December 2026).
What we don't know
Exactly how the disease progresses in children: there are no published data.
Measure

Towards a potency assay for MYO7A

Phase I complete

CRISPR/Cas9 knock-in of CRXp-MYO7A-HA at the AAVS1 safe-harbour locus in WA09 hESCs

David Gamm and Celia Bisbach · University of Wisconsin-Madison
Tagged line→Interactome→Potency assay
What we funded (2023)
A human stem cell line with a tagged MYO7A. For the first time, MYO7A could be seen inside a lab-grown human photoreceptor (a retinal organoid), which the commercial antibody does not allow. Presented at ARVO 2025.
What it made possible
The tag makes it possible to pull MYO7A out and identify the proteins it works with (the interactome). Save Sight Now (USA) and the Foundation Fighting Blindness now fund a three-year project to turn this into a standard assay.
The goal
A potency assay: a test that shows whether the MYO7A produced by a therapy is active and binds its partners. Regulators require one before patients can be treated, and it would serve any therapy.

FFB · Save Sight Now · Our news

MeasureModels

MYO7A structure: the two isoforms

Under way
SSNEU, with an Anthropic AI for Science award · validation with Aziz El-Amraoui (Institut Pasteur)
Why
MYO7A comes in two forms (isoforms), and clinical programmes have to choose which one to deliver. Nobody had modelled how each one binds its partner.
Modelling
Computer modelling of the two isoforms with several prediction methods. Our first result did not hold up under further testing, and we corrected it ourselves.
Experiment
At the Institut Pasteur, a lab experiment will test directly the binding the model predicts. It is a separate project from the award.
Also
The award also covers reinterpreting MYO7A variants of uncertain significance, so that more patients can qualify for trials.
What we don't know
Whether the choice of isoform matters. Paper expected in 2027.
Understand
Models and completed research

Where we come from

The research that built the models and knowledge we work with today, and who made it possible.

Model established

The pig that could tell us how to treat Usher 1B

The pig's eye resembles the human eye more closely than that of a mouse. The Wolfrum laboratory (Johannes Gutenberg University Mainz) and PIGMOD in Liběchov are following a pig that carries a natural mutation in MYO7A. It is deaf and shows the balance signs of the condition, but retinal degeneration has not appeared so far. A long-term natural history study should clarify whether it begins in the periphery of the eye, as it does in patients. The team has already found cellular and molecular defects in the retinal pigment epithelium that are also present in patient-derived cell models.

Uwe Wolfrum and Kerstin Nagel-Wolfrum · funded by Stichting Ushersyndroom (Netherlands), with support from SSNEU

“Any solved question and any additional information will help determine how the animal and the cellular models can be used to test future treatments.”

2022

Patient cell models and therapies for USH1B

Moon Rocket Grant · Stichting Ushersyndroom

Patient cells turned into retinal organoids and retinal pigment epithelium to compare three routes: prime editing, antisense oligonucleotides and AAV-delivered minigenes. Kerstin Nagel-Wolfrum and Uwe Wolfrum · Johannes Gutenberg University Mainz.

Funded by Stichting Ushersyndroom (Netherlands), with an application prepared with SSNEU

Done
2021–2026

Gene therapies based on understanding USH1B pathogenesis

Development of gene therapies based on understanding of USH1B pathogenesis · Institut de la Vision (Paris)

Natural history of the disease in patients (Light4Deaf), molecular signatures of USH1B and the groundwork for gene therapies. Isabelle Audo, Deniz Dalkara, Aziz El-Amraoui and Serge Picaud.

Funded by Save Sight Now and the Foundation Fighting Blindness

Done
2022–2025

USH1B retinal organoids to develop therapies

Creation of USH1B retinal organoids to develop critically needed therapies

Mini-retinas grown from patient cells to uncover disease mechanisms, find the best window for gene therapy and optimise treatments. Mark Pennesi · Casey Eye Institute (OHSU, Oregon).

Funded by Save Sight Now

Done
2021–2022

Creation and characterisation of a non-human primate USH1B model

Creation and characterization of a non-human primate USH1B model

Using CRISPR/Cas9 gene editing, the team created Gema, the first macaque with a gene-edited retinal disease. Her eyes have a macula and fovea like the human eye, and the photoreceptor structures that mice lack. By May 2022 she showed all three signs of Usher 1B: balance problems, profound hearing loss and early retinal degeneration. Martha Neuringer · Oregon National Primate Research Center (OHSU).

Funded by the Foundation Fighting Blindness and Save Sight Now

Done
How we decide

Not everything we study becomes a project

Under evaluation

What we are looking at

  • Base editing and prime editing for mutations current tools cannot correct
  • Personalised genetic medicines for variants too rare to interest industry
  • Vectors that reach photoreceptors better

How we make decisions

Every proposal is reviewed by our Scientific Advisory Board. When we decide not to fund one, we record why and what would change our mind.

A foundation that only announces successes does not tell you much. That is why we also share what has not worked.

If you would like to help us fund innovative research to defeat Usher syndrome, click the Donate button.Donate