overview

Dr. David Corey, Department of Neurobiology, Harvard Medical School, updates Usher 1F families on his research for a cure.

We are pleased to share with you the exciting 7th publication out of David Corey’s lab at Harvard, documenting the rescue of vision in our Usher 1F zebrafish model.

David Corey, Bertarelli Professor of Translational Medical Science at Harvard Medical School, discusses his team's development of gene therapies to treat hereditary deafness in children. After nearly 50 years studying inner ear cells, they're close to treating two types of genetic hearing loss: Usher syndrome type 1F and DFNB1.

NPR’s story shows just how deeply the funding decisions affect real lives—and the progress of life-saving science. Craig LeMoult of WGBH in Boston profiles Jessica Chaikof's hope for a cure for Usher 1F and her concern that the federal funding cuts to Harvard threaten Dr. David Corey's Usher 1F research.

A recent federal judge's ruling to restore NIH funding for some terminated grants does not include over $1 billion in frozen funds awarded to Harvard University, significantly impacting research like that into Usher 1F. Jessica Chaikof, who lives with Usher 1F, fears these funding cuts will delay critical gene therapy developments that could preserve her sight. Harvard scientist Dr. David Corey, whose promising research is now stalled, warns that politics-driven funding decisions could severely hinder progress for rare disease treatments nationwide.

Our top Usher 1F researcher, David Corey, is quoted in this NY Times about the threats to his Usher 1F research. We are so close, and now a cure is threatened. Maryna Ivanchenko, our gifted MD, PhD, research scientist and ophthalmologist in the Corey lab, recently applied for an NIH grant specifically for their Usher 1F work. If this grant does not come through, and right now, like so many grant applications, it is sitting in limbo, Usher 1F Collaborative will have to cover the cost in order for this work to proceed. This will put significant pressure on our small foundation.

For all of you who live in the United States, please help us by calling and writing to ask your senators and representative to restore and maintain NIH research funding.

Take a look at our fundraising and research accomplishments from 2024.

Read this wonderful story about Usher 1F Collaborative Canada and the Forte family's work for a cure. If you're in Ontario, please buy a Catch the Ace ticket for a chance to win while helping fund Usher 1F research for a cure.

Excellent coverage in Harvard's Pulse publication of the work of David Corey, PhD, Maryna Ivanchenko, MD, PhD, and team, who are making incredible strides in their research toward a cure for Usher 1F.

The Usher 1F Collaborative funded research team at Harvard Medical School has taken another decisive step in their efforts to develop a gene therapy for people with Usher syndrome type 1F. A new way of delivering a corrected version of the faulty gene that causes Usher syndrome — PCDH15 — restored hearing in mouse models and showed potential in retinal organoids and nonhuman primates for improving vision, the team reports in the Journal of Clinical Investigation.

Our Harvard research team has developed a second gene therapy that is providing great results in treating Usher 1F.

Terrific coverage of David Corey's Usher 1F research - "Now, seven years later, about two-thirds of Corey’s team works in gene therapy with a large focus on developing a treatment for Usher syndrome type 1F—work led by Maryna Ivanchenko, MD, PhD, an instructor in the Corey lab."

Research out of our University of Maryland research lab describing success with a gene therapy approach utilizing dual AAV vectors to deliver our large gene

Research from our team at the University of Oregon Institute of Neuroscience demonstrates that a potent antioxidant. Hexafluoro, made from the maple tree, shows promise in treating Usher 1F and, potentially, other types of Usher syndrome.

Another promising gene therapy from our Harvard researchers, this one using dual vectors to deliver the large Usher 1F gene.

Harvard researchers hope at least one will treat progressive blindness caused by Usher syndrome type 1F

Exciting news! - Our Harvard Medical School researchers reported at the 2023 ARVO conference that they have restored vision in our zebrafish model with their Usher 1F mini-gene.

Researchers have designed a “mini gene” therapy that could hold promise for treating Usher Syndrome Type 1F

We write to you today as board members of Usher 1F Collaborative, but our story that brought us here is a bit different than our board peers. Our families are not personally impacted by this genetic disease. However, we have walked side by side with our friends whose lives were turned upside down and we felt compelled to join them in their battle to improve the future for their children.

A publication out of David Corey's lab at Harvard Medical School describing yet another gene therapy approach his team has developed. A big thank you to David Corey, Maryna Ivanchenko, and their team!

A team led by researchers at Harvard Medical School, Massachusetts Eye and Ear, and The Ohio State University has made an important first step toward developing a gene therapy for Usher 1F.

The research, conducted in mice, is described Apr. 26 in Nature Communications.

With excitement we recognize that 2023 marks the Ten-Year Anniversary of the founding of Usher 1F Collaborative. Together with your support, we have accomplished so much in a relatively short period of time.

While it is important to report our achievements to this point, today we write about our future. Time shows us no mercy as those who live with Usher 1F face a continuous narrowing of their vision.

"Rather than sitting back and accepting the fate of my son's eye condition to come, we knew we had nothing to lose, we began fundraising from Canada. There is power in numbers and the goal is to reach as many people as possible to help get that cure!

"THAT IS WHY WE ARE HONORED TO ANNOUNCE THAT USHER 1F COLLABORATIVE WILL BE EXTENDING INTO CANADA! Because of our affected families and donors in Canada, we have incorporated here and are just awaiting our charitable status to fully launch!"

"Our daughter Tzila is a strong young woman – a mother to two beautiful boys, a committed wife, and a dedicated social worker. She also lives with Usher 1F, adding a plate full of daily challenges to her life. As her parents, we are immensely proud of her success, but it is vital to us that a cure is developed for her vision loss."

Brendan, who has Usher 1F, is becoming part of the team seeking a cure. He graduated college with his Bachelor’s degree in Biochemistry & Molecular Biology, is currently doing a fellowship at the National Institutes of Health (NIH) in Bethesda, MD, and applying to PhD programs. His parents, Stacey and David, are incredibly proud of his accomplishments and ambitions.

Read the latest news and research updates from Usher 1F Collaborative.

Usher 1F researcher Livia Carvalho, PhD, is part of this team.

Melissa and Rachel Chaikof are in @cttnpodcast 's podcast! From the discovery of Rachel's diagnosis of deafness at a young age to Usher's Type 1 later on, and her fight against it all these years to Melissa and her husband starting the Usher 1F Collaborative and the commitment to research for a cure. Check out the new episode today!

It's on Youtube too: https://www.youtube.com/watch?v=_In3Snj9K1U

The Association for Research in Vision and Ophthalmology (ARVO) conference is the most significant international vision research conference in the world. Maryna Ivanchenko, MD, PhD, et. al. presented their work and success developing a dual vector gene therapy for Usher 1F.

A summary of Usher 1F researcher David Corey's presentation to the World Medical Innovation Forum, Gene and Cell Therapy, on his work for a cure for Usher 1F and the success he has realized thus far.

Jaime Recht, who has Usher 1F, is running the Boston Marathon to raise funds for research for a cure. Despite declining vision, nothing stops her!

Global Genes interview with Usher 1F Board Chair Melissa Chaikof

“Aside from retinoid replacement, we can also think about developing more permanent therapies to treat or prevent blindness in people with Usher syndrome type 1F that may correct or replace the other functions of protocadherin-15, as well.” – Zubair M. Ahmed, Professor of Otorhinolaryngology—Head & Neck surgery and Ophthalmology, University of Maryland

"The labs of Artur A. Indzhykulian, MD, PhD, Assistant Professor of Otolaryngology–Head and Neck Surgery at Harvard Medical School (HMS), and David Corey, PhD, Bertarelli Professor of Translational Medical Science in the Blavatnik Institute of HMS, have recently received a $1 million Blavatnik Therapeutics Challenge Award for their collaborative research on the treatment of Usher syndrome 1F, a rare – albeit debilitating – form of Usher syndrome."

Diego and Emilia Rodrigues live in São Paulo, Brazil, and are parents to Liz, age three, who has Usher 1F. Read their story.

Chase and Jax are brothers with Usher 1F. Read their story as told by their mom Ally.

Amanda is a PhD student in the lab of Usher 1F researcher Vincent Tropepe at the University of Toronto, Toronto, Canada, investigating disease modelling for retinal development and disease mechanisms. She is first author on ‘ Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish’, published in DMM. (PCDH15 is the gene on which mutations cause Usher 1F.)

Anna, who has Usher 1F, talks about her life, her hopes, and her dreams for the future.

Our Usher 1F Collaborative funded research team at the University of Maryland have identified a promising drug therapy and plan to take it to clinical trial.

Usher 1F patient Jessica Chaikof talks about the difficulties navigating secondary education and challenges with disability services at her graduate school, with other students with disabilities also describing their struggles.

Read our latest newsletter with stories and updates on research.

On September 29th, 2021, the Red Meat Lovers Club hosted an epic fundraiser in Verona, NJ, for Usher 1F Collaborative, raising $26,000 for research.

"Arts & Science researchers at the University of Toronto trying to solve a rare disorder — which leaves newborns with profound hearing loss and gradually robs them of their vision — are celebrating a recent funding boost.

"Just ahead of Usher Syndrome Awareness Day on September 18, researchers led by Vincent Tropepe, a professor of cell & systems biology, have received a $50,000 donation from the Usher 1F Collaborative, a U.S.-based non-profit."

"Administration of exogenous 9-cis retinal, an analog of the naturally occurring 11-cis retinal, improved ERG amplitudes in these mutant mice, suggesting a basis for a clinical trial of exogenous FDA approved retinoids to preserve vision in USH1F patients."

Read our newsletter to learn about our latest updates, including exciting news about our conference and RUSH1F natural history study.

Here is Recht’s advice to other mothers this Mother’s Day:

“Your attitude should be positive, no matter who you are or what challenges you may have. Perhaps you use a wheelchair, you’re blind, or have any other issues. Don’t let it affect you or limit you. Be positive. Have a positive attitude. That’s going to be effective.”

COLUMBIA, Maryland – April 29, 2021 – Foundation Fighting Blindness, the world’s leading organization committed to finding treatments and cures for blinding retinal diseases, is partnering with the Usher 1F Collaborative, a family-founded nonprofit driving research for Usher syndrome type 1F (USH1F), to launch a natural history study, the Rate of Progression in PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F). The project will help identify outcome measures for future clinical trials of potential USH1F therapies.

More great coverage of the #Usher1FCerealChallenge? Go Zachary! We will do this for you and for everyone with #usher1f! Thank you WJLP for covering this story.

More great media coverage for Usher 1F Collaborative and our Cereal Challenge!