Programs and results
What we aim to solve
Usher Syndrome is the leading cause of inherited deaf-blindness. Type 1 is the most severe, with those affected born profoundly deaf with impaired balance. During childhood to adolescence, they begin to lose their vision to retinitis pigmentosa, first with night blindness, followed by increasingly narrowing tunnel vision, until total blindness results sometime during adulthood. Usher 1F Collaborative seeks to find a cure for Usher Syndrome type 1F, which is caused by mutations on the PCDH15 gene.
Our programs
What are the organization's current programs, how do they measure success, and who do the programs serve?
Usher 1F Project, Westerfield Lab, University of Oregon Institute of Neuroscience
Monte Westerfield, Ph.D., is at the Institute of Neuroscience and Department of Biology at the University of Oregon. His research is focused on Usher Syndrome with particular expertise in creating zebrafish models of Usher Syndrome mutations. Usher 1F Collaborative has funded the creation of a zebrafish model of the Usher Syndrome Type 1F R245X mutation that is carried by ~2% of those of Ashkenazi Jewish descent. Dr. Westerfield and his team, including Jennifer Phillips, Ph.D., are now beginning testing of drugs and gene therapies on our zebrafish that have the potential to halt or slow the progression of vision loss.
Project Usher, The Institute for Vision Research at the University of Iowa
Edwin Stone, M.D., Ph.D., who is working to develop a cure for Usher 1F along with other types of retinitis pigmentosa at his lab at the University of Iowa, is working to halt further retinal degeneration from Usher 1F through gene replacement and to repair damage that has already occurred through replacement of damaged retinal photoreceptor cells with new cells made from the patient’s own skin cells, with a goal of a clinical trial once safety and efficacy are determined.
University of Maryland
Zubair Ahmed, Ph.D., at the University of Maryland, has developed a mouse model of the most prevalent Usher 1F mutation that he is now using to test potential gene therapies and, in collaboration with Dr. Westerfield, potential drug therapies. He is also working to develop a mini gene for gene replacment for Usher 1F.
University of Western Australia
Livia Carvalho, Ph.D., at the University of Western Australia, is collaborating with Dr. Ahmed to develop gene replacement therapy for Usher 1F. She has developed a dual vector gene replacement therapy, which Dr. Ahmed is testing for efficacy on our mouse.
University of Pittsburgh, Department of Ophthalmology
Leah Byrne, Ph.D. at the University of Pittsburgh is developing a split gene dual vector system for gene replacement. Her unique approach increases the efficiency of viral vector co-infection, increasing efficacy of large gene expression. Once complete, Dr. Ahmed will test her vectors for efficacy on our mouse.
Usher 1F Research Project at the Corey Lab
David Corey, Ph.D., is the Bertarelli Professor of Translational Medical Science, Blavatnik Institute of Neurobiology, Harvard Medical School. After years of studying protocadherin 15, the Usher 1F gene, in relation to hearing, he decided to pursue research on treating the vision loss of Usher 1F after attending Usher 1F Collaborative's May 2017 researchers symposium. We are very fortunate that he has obtained a substantial amount of funding from outside sources, most notably from the Bertarelli Foundation. Dr. Corey is working on three approaches to gene therapy, mini genes, split genes, and gene editing. He has begun testing of mini genes for efficacy on our zebrafish.
Usher 1F Research Project, The Salk Institute, Samuel Pfaff Lab
Develop a unique and potentially much more efficient delivery of the large Usher 1F gene to the retina.
Where we work
Awards
Rare As One Project Grantee 2020
Chan Zuckerberg Initiative
Affiliations & memberships
Chan Zuckerberg Initiative Rare As One Project 2020
External reviews

Videos
Our results
How does this organization measure their results? It's a hard question but an important one.
Number of research studies funded
This metric is no longer tracked.Totals By Year
Population(s) Served
People with hearing impairments, People with vision impairments
Related Program
Usher 1F Research Project at the Corey Lab
Type of Metric
Output - describing our activities and reach
Direction of Success
Increasing
Context Notes
We fund research labs to conduct translational research for a cure for the vision loss of Usher Syndrome type 1F.
Number of research studies conducted
This metric is no longer tracked.Totals By Year
Population(s) Served
People with hearing impairments, People with vision impairments
Related Program
Usher 1F Research Project at the Corey Lab
Type of Metric
Output - describing our activities and reach
Direction of Success
Increasing
Context Notes
Results of testing of multiple gene therapy treatments for Usher 1F obtained for hearing and balance. Testing on vision in progress.
Number of grants and research funding awarded to the institution
This metric is no longer tracked.Totals By Year
Population(s) Served
People with hearing impairments, People with vision impairments
Related Program
Usher 1F Research Project at the Corey Lab
Type of Metric
Output - describing our activities and reach
Direction of Success
Increasing
Context Notes
Full funding of research. Funding specifically to Corey lab in 2022: $163,000
Total dollar amount of grants awarded
This metric is no longer tracked.Totals By Year
Population(s) Served
People with hearing impairments, People with vision impairments, People with physical disabilities
Related Program
Usher 1F Research Project at the Corey Lab
Type of Metric
Outcome - describing the effects on people or issues
Direction of Success
Increasing
Context Notes
Grants awarded to Corey Lab, Harvard Med School Pfaff Lab, The Salk Institute Westerfield Lab, Univ of Oregon Institute of Neuroscience Zubair Ahmed Lab, Univ of MD Foundation Fighting Blindness
Goals & Strategy
Reports and documents
Download strategic planLearn about the organization's key goals, strategies, capabilities, and progress.
Charting impact
Four powerful questions that require reflection about what really matters - results.
What is the organization aiming to accomplish?
Usher 1F Collaborative is working to fund medical research to find an effective treatment or cure for the vision loss of Usher Syndrome type 1F. Our goal is to both halt further vision loss and reverse vision loss in those already affected and to prevent vision loss in babies born with this disorder.
What are the organization's key strategies for making this happen?
We have identified 3 potential paths to a cure, gene, drug, and stem cell therapies. Our initial goal was to develop an animal model of the Usher 1F mutation on which to test potential therapies. We now have both a zebrafish and mouse model, both of which display all 3 traits of Usher 1F, profound deafness from birth, an impaired vestibular system, and progressive vision loss. The challenge to developing gene therapy for Usher 1F is that our gene is large and will not fit on the current viral vectors used to deliver replacement genes. Thus, our researchers are working on 4 different strategies, a split gene dual vector approach, a mini-gene, base editing, and development of an AAV viral vector that will hold our entire large gene.
We have already begun testing on our mouse and zebrafish of four gene therapies and three drug therapies.
Finally, one researcher is developing stem cell therapies using patients' own skin cells
What are the organization's capabilities for doing this?
We have a board comprised of people with the necessary and complementary skills, 3 PhD research scientists, including one MD, PhD, one working in pharma venture capital, and one working in drug development, along with other board members with connections to wealthy individuals to help raise funds for research, and, last but not least, a group of affected, dedicated, and determined families. In 2020, we also formed our Scientific Advisory Council, which includes esteemed scientists to help guide us in our path to a cure. We have engaged seven research teams who are specifically researching Usher 1F, including at Harvard, the University of Oregon Institute of Neuroscience, the University of Iowa Institute for Vision Research, the University of Maryland, the University of Pittsburgh, the University of Toronto, and the University of Western Australia. In addition, we are partnering with a team at the Center for Eye Research Australia. Finally, our two animal models have opened up paths for testing potential treatments.
What have they accomplished so far and what's next?
We have:
Developed 4 animal model, including 3 that share all 3 human Usher 1F traits
Engaged 7 research labs dedicated to Usher 1F specific research
Partnered with 1 research labs obtaining their own funding for Usher 1F specific research
Directly funded $3.8 million in research and helped our partners raise another $3 million
Have 3 gene therapies that correct hearing in our mouse model with 2 also shown to correct balance. Now testing these gene therapies for restoration of vision on our zebrafish
Have launched RUSH1F, our natural history study in partnership with Foundation Fighting Blindness
Have two promising drugs in testing in our animal models in the lab, one of which is in preparation to begin human trials
How we listen
Seeking feedback from people served makes programs more responsive and effective. Here’s how this organization is listening.
-
Who are the people you serve with your mission?
Patients with Usher 1F and their families and Usher 1F researchers.
-
How is your organization using feedback from the people you serve?
To inform the development of new programs/projects, To strengthen relationships with the people we serve, To understand people's needs and how we can help them achieve their goals
-
What significant change resulted from feedback?
Zoom community meetings twice a year, including presentation by one of our researchers to keep the patients up to date. Since our community is distributed around the world, Zoom has opened up this opportunity. International scientific research conference held virtually October 2022 and opened up to all researchers and all patients free of cost.
-
Which of the following feedback practices does your organization routinely carry out?
We collect feedback from the people we serve at least annually, We aim to collect feedback from as many people we serve as possible, We take steps to ensure people feel comfortable being honest with us, We act on the feedback we receive, We tell the people who gave us feedback how we acted on their feedback
-
What challenges does the organization face when collecting feedback?
It is difficult to get the people we serve to respond to requests for feedback
Financials
Unlock nonprofit financial insights that will help you make more informed decisions. Try our monthly plan today.
- Analyze a variety of pre-calculated financial metrics
- Access beautifully interactive analysis and comparison tools
- Compare nonprofit financials to similar organizations
Want to see how you can enhance your nonprofit research and unlock more insights?
Learn more
about GuideStar Pro.
Operations
The people, governance practices, and partners that make the organization tick.
Connect with nonprofit leaders
SubscribeBuild relationships with key people who manage and lead nonprofit organizations with GuideStar Pro. Try a low commitment monthly plan today.
- Analyze a variety of pre-calculated financial metrics
- Access beautifully interactive analysis and comparison tools
- Compare nonprofit financials to similar organizations
Want to see how you can enhance your nonprofit research and unlock more insights? Learn More about GuideStar Pro.
Connect with nonprofit leaders
SubscribeBuild relationships with key people who manage and lead nonprofit organizations with GuideStar Pro. Try a low commitment monthly plan today.
- Analyze a variety of pre-calculated financial metrics
- Access beautifully interactive analysis and comparison tools
- Compare nonprofit financials to similar organizations
Want to see how you can enhance your nonprofit research and unlock more insights? Learn More about GuideStar Pro.
USHER 1F COLLABORATIVE INC
Board of directorsas of 01/19/2023
Melissa Chaikof
Usher 1f Collaborative
Term: 2016 - 2026
Dr. Elliot Chaikof
Beth Israel Deaconess Medical Center
Term: 2016 - 2026
Frank Gentile
Casma Therapeutics
Lijun Sun
Beth Israel Deaconess Medical Center
Rachel Root
Cedar Grove School District
Laurie Shapiro
Optical Expressions
Jared Root
Ideal Fastener
Julian Seewald
Julian Seewald, DDS
Sari Springer
Littler Mendelson P.C.
Josh Cohen
Pearl Media
Heather Rosenstein
Morgan Stanley Private Wealth Management
Board leadership practices
GuideStar worked with BoardSource, the national leader in nonprofit board leadership and governance, to create this section.
-
Board orientation and education
Does the board conduct a formal orientation for new board members and require all board members to sign a written agreement regarding their roles, responsibilities, and expectations? Yes -
CEO oversight
Has the board conducted a formal, written assessment of the chief executive within the past year ? Not applicable -
Ethics and transparency
Have the board and senior staff reviewed the conflict-of-interest policy and completed and signed disclosure statements in the past year? Yes -
Board composition
Does the board ensure an inclusive board member recruitment process that results in diversity of thought and leadership? Yes -
Board performance
Has the board conducted a formal, written self-assessment of its performance within the past three years? Not applicable
Organizational demographics
Who works and leads organizations that serve our diverse communities? Candid partnered with CHANGE Philanthropy on this demographic section.
Leadership
The organization's leader identifies as:
The organization's co-leader identifies as:
Race & ethnicity
Gender identity
Sexual orientation
No data
Disability
Equity strategies
Last updated: 01/19/2022GuideStar partnered with Equity in the Center - an organization that works to shift mindsets, practices, and systems to increase racial equity - to create this section. Learn more
- We disaggregate data to adjust programming goals to keep pace with changing needs of the communities we support.
- We have long-term strategic plans and measurable goals for creating a culture such that one’s race identity has no influence on how they fare within the organization.
- We use a vetting process to identify vendors and partners that share our commitment to race equity.
- We help senior leadership understand how to be inclusive leaders with learning approaches that emphasize reflection, iteration, and adaptability.