Usher Syndrome Blog and News

The latest USH blog posts and various news items impacting the Usher syndrome community.

Students with Usher syndrome at Gallaudet University are now able to benefit from a scholarship fund established in 2015 in honor of Linda Annala, '70, an influential leader in the deaf-blind community.

Jennifer Phillips, Ph.D. highlights the importance of forging "connections with people who have expertise in different areas" of Usher syndrome.

Jennifer Phillips, Ph.D." on defining “Failure”: Disclosing when things don’t work and understanding WHY is a really important, though often overlooked realm of research. Here are a couple of USH1 research stories from today’s presentations that illustrate that point.

Jennifer Phillips, Ph.D.: Several of the talks on Day 3 at ARVO 2017 delved into the biology of what, specifically, causes photoreceptor cells to die in retinitis pigmentosa patients.

Jennifer Phillips, Ph.D. recaps ARVO 2017 Day 2 with highlights on Usher syndrome type 2A research from Erwin van Wijk and colleagues at Radboud University Medical Center in the Netherlands and RP research by Neena Haider and her team at Massachusetts Eye and Ear.

Jennifer Phillips, Ph.D. shares highlights of Usher syndrome research from ARVO 2017.

If you tell your story, if you share your dream, if you reach out for help, you might just be surprised who will reach back out to help and tell their story, and share their dream, to you.

Encouraging signs this week that the FDA is serious when it granted Regenerative Medicine Advanced Therapy (RMAT) status to the CIRM-funded jCyte clinical trial for a rare form of blindness. This is a big deal because RMAT seeks to accelerate approval for stem cell therapies that demonstrate they can help patients with unmet medical needs.

Dr. Gema García-García shares strategies for the molecular diagnosis of Usher syndrome used at the Health Research Institute Hospital La Fe in Valencia, Spain. | En este USH Talk, Dr. Gema García-García presenta strategias para el estudio molecular del Síndrome de Usher.

jCyte is working on a treatment for the broad spectrum of Retinitis Pigmentosa.

Jie Zhu, Chang Ming, Xin Fu, Yaou Duan, Duc Anh Hoang, Jeffrey Rutgard, Runze Zhang, Wenqiu Wang, Rui Hou, Daniel Zhang, Edward Zhang, Charlotte Zhang, Xiaoke Hao, Wenjun Xiong, Kang Zhang.

Using the gene-editing tool CRISPR/Cas9, researchers have reprogrammed mutated rod photoreceptors to become functioning cone photoreceptors, reversing cellular degeneration and restoring visual function in two mouse models of retinitis pigmentosa.

For more information on this study: https://www.nature.com/cr/journal/vaop/ncurrent/full/cr201757a.html

The next International Symposium on Usher Syndrome will be held in conjunction with our 10th USH Connections Conference in Mainz, Germany, July 19-21, 2018.

HKNC is a one-of-a-kind facility for folks living with deaf-blindness. All classes and training are done one-on-one with individual instructors and focus on orientation and mobility, communication, technology and even organizing money and writing checks.

In this USH Talk, Megan Cote provides a brief overview of the National Center on Deaf-Blindness (NCDB), their six national initiatives and ways in which they can connect families to support and training at the state and national level.

Usher syndrome is, and will remain, a rare disease. Turns out it may be rarer than we thought.

Researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome.

Kevin Isgrig, Jack W. Shteamer, Inna A. Belyantseva, Meghan C. Drummond, Tracy S. Fitzgerald, Sarath Vijayakumar, Sherri M. Jones, Andrew J. Griffith, Thomas B. Friedman, Lisa L. Cunningham, Wade W. Chien

For more information on this study: http://www.cell.com/molecular-therapy-family/molecular-therapy/fulltext/S1525-0016(17)30013-8

Splash Magazines' Andrew DeCanniere interviews Mark Dunning, Chair of the Coalition, about the upcoming USH Connections Conference, the state of Usher syndrome research and the Usher Syndrome Coalition community.

Foundation Fighting Blindness Press Release (Columbia, MD) - A Cautionary Tale About the Need to Educate Patients and Advance Research to Produce Treatments with Proven Efficacy, Says Foundation Fighting Blindness

Take action NOW to let your members of Congress know you're counting on them to reject these cuts and to prioritize Usher syndrome research funding.

Harvard Stem Cell Institute (HSCI) researchers at Brigham and Women’s Hospital (BWH) and Massachusetts Eye and Ear Infirmary and colleagues from Massachusetts Institute of Technology (MIT) have developed an approach to replace damaged sound-sensing hair cells, which eventually may lead to therapies for people who live with disabling hearing loss.

Allergan and Editas Medicine have made an alliance to work with the gene-editing CRISPR to help prevent vision deterioration.

In this study, researchers introduced CRISPR into retinal cells, tested this genome tool to remove the Nrl gene in mice and three different mouse models of retinal degeneration. By measuring gene expression and examining the retinal cells, the researchers confirmed that rods became more cone-like, as predicted which allowed for rod degeneration to be prevented or slowed.

Yu W, Mookherjee S, Chaitankar V, Hiriyanna S, Kim JW, Brooks M, Ataeijiannati Y, Sun X, Dong L, Li T, Swaroop A, Wu Z

For more information on this study: http://www.nature.com/articles/ncomms14716

Scientists have developed a retinal implant that can restore lost vision in rats, and are planning to trial the procedure in humans later this year. The implant, which converts light into an electrical signal that stimulates retinal neurons, could give hope to millions who experience retinal degeneration – including retinitis pigmentosa – in which photoreceptor cells in the eye begin to break down, leading to blindness.

Researchers are working to find how fish can regenerate their eyes after they have been injured and if there is a way to make this happen the same way in a human eye.

Mark Dunning does the Usher Dance Challenge #usher4ushersyndrome.

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