Usher Syndrome Blog and News

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

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.

In this USH Talk, Dr. Hannie Kremer explains genetic testing of the USH2A gene, as conducted at the Radboud University Medical Center in Nijmegen, Netherlands.

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.

Scientists at the Boston Children’s Hospital, Massachusetts Eye and Ear and Harvard Medical School have spent several years refining a technique to repair one of the common genetic disorders that cause deafness, offering hope to millions. The genetic disorder they repaired is Usher syndrome.

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

Powered By Firespring.org