Usher Syndrome Blog and News

The latest USH blog posts and various news items impacting the Usher syndrome community. Join our mailing list.

Thanks to everyone who rushed to our aid during our recent request for funding. I am sorry if I scared anyone. I should have stressed that the Usher Syndrome Coalition is not going anywhere! It’s really just a question of the depth of services we will be able to provide the community.

Here in the world of Usher syndrome, we are torn asunder by the forces of the future. Everyone looks ahead to a time when there will be treatments, when there will be a cure, when things are fixed.

Geng R, Omar A., Gopal SR, Chen DH, Stepanyan R, Basch ML, Dinculescu A, Furness DN, Saperstein D, Hauswirth W, Lustig LR, Alagramam KN

Researchers developed a new USH3 mouse model that displays delayed-onset progressive hearing loss, then tested a viral therapy to preserve hearing in the mouse models. Their results show that gene therapy is a promising approach to preserve hearing in USH3 patients.

While we wait for treatments, the Coalition is what makes life bearable.

Samantha R. De Silva, Alun R. Barnard, Steven Hughes, Shu K. E. Tam, Chris Martin, Mandeep S. Singh, Alona O. Barnea-Cramer, Michelle E. McClements, Matthew J. During, Stuart N. Peirson, Mark W. Hankins and Robert E. MacLaren

Oxford researchers have shown that gene therapy might help reverse blindness caused by retinitis pigmentosa by reprogramming cells at the back of the eye to become light sensitive.

View the journal publication of this study: http://www.pnas.org/content/early/2017/09/26/1701589114

If you believe the Usher Syndrome Coalition has improved your life in any way, I hope you will join me in ensuring its continued existence.

In this USH Talk, Hester van Diepen provides an overview of the Usher development program at ProQR Therapeutics as an approach for possible future treatment of USH2A-associated retinitis pigmentosa.

Alice Emptoz, Vincent Michel, Andrea Lelli, Omar Akil, Jacques Boutet de Monvel, Ghizlene Lahlou, Anaïs Meyer, Typhaine Dupont, Sylvie Nouaille, Elody Ey, Filipa Franca de Barros, Mathieu Beraneck, Didier Dulon, Jean-Pierre Hardelin, Lawrence Lustig, Paul Avan, Christine Petit, Saaid Safieddine

Scientists have recently restored hearing and balance in a mouse model of Usher syndrome type 1G characterized by profound congenital deafness and vestibular disorders caused by severe dysmorphogenesis of the mechanoelectrical transduction apparatus of the inner ear's sensory cells. These findings open up new possibilities for the development of gene therapy treatments for hereditary forms of deafness.

Parents, join us on Wednesday, October 11 at 5pm PT / 6pm MT / 7pm CT/ 8pm ET for an open, genuine, and powerful 90-minute presentation and discussion focusing on children with Usher syndrome.

Katharine Rose blogs about how the essence of life seems to always come down to the small and simple things, to the things we often don’t think about, the things we take for granted, the things we forget are gifted to us as human beings: our ability to see and hear, taste and smell, walk and breathe.

I'm grateful to have had so many decades of my life completely unaware of Usher syndrome. But now that I know that I have it, I think often about how Usher syndrome isn't something that everyone knows about.

The primary purpose of the Own the Equinox campaign is to raise awareness about Usher syndrome. The second purpose of Own the Equinox is to raise funds for the Usher Syndrome Coalition.

Usher Syndrome Society, in collaboration with the Usher Syndrome Coalition, is Owning the Equinox and taking New York City by a storm by bringing awareness to Usher syndrome (USH). Check out Usher Syndrome Society's Outdoor Awareness Exhibit in Washington Square Park on September 12th!

Usher Syndrome Awareness Day and the Own the Equinox campaign are first about raising awareness for Usher syndrome. By building a community and gaining global recognition for Usher syndrome we move closer to a cure.

A plea to the Usher syndrome community: do not rely on testimonials and press releases to influence your medical treatment decisions.

Danay Trest submitted a proclamation request to Mississippi Governor Phil Bryant, who recognized September 17, 2016 as Usher Syndrome Awareness Day. Now let's make this happen in YOUR state.

The Usher Syndrome Coalition is pleased to announce that the USH Trust registry is now available in German. | NEU! NEU! NEU!: Das Usher Syndrom Register in deutscher Sprache! Wir freuen uns mitzuteilen, dass das Usher Register “USH Trust” ab sofort in deutscher Sprache verfügbar ist.

The conference transcript and presentation slides from the annual Usher Syndrome (USH) Connections Conference are now available!

Approved by the U.S. Food and Drug Administration in June, Cochlear’s Nucleus 7 Sound Processor can now stream sound directly from a compatible iPhone, iPad or iPod touch to the sound processor.

Nikolas L. Jorstad, Matthew S. Wilken, William N. Grimes, Stefanie G. Wohl, Leah S. VandenBosch, Takeshi Yoshimatsu, Rachel O. Wong, Fred Rieke, & Thomas A. Reh

NEI-funded researchers use a clue from zebrafish to discover the cues that reprogram Müller glia into retinal neurons.

Learn more about having your portrait taken and your story told to give a face and voice to Usher syndrome through photojournalism and art.

In this USH Talk, Dr. Shannon Boye summarizes efforts to develop a dual AAV vector-based gene therapy for Myosin7a Usher syndrome (USH1B). The drawbacks of USH1B mouse models and a rationale for testing these vectors in a more clinically relevant species are discussed.

Sarath Vijayakumar Frederic F. Depreux Francine M. Jodelka Jennifer J. Lentz Frank Rigo Timothy A. Jones Michelle L. Hastings.

These findings provide the first direct evidence of an effective treatment of peripheral vestibular function in a mouse model of USH1C and reveal the potential for using antisense technology to treat vestibular dysfunction.

If you’ve followed any of my involvement with the Usher community over the years, from blog posts to ARVO updates to speaking at our family conferences and making dorky USH Talk videos, it should come as no surprise to you that I’m a big proponent of science communication and outreach.

Challenge friends and family to create a short video dancing to an Usher song in hopes of getting Usher the singer to perform a benefit concert to raise awareness and funds to find treatments and a cure for Usher syndrome.

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